Incidental Mutation 'R1861:Clasp1'
| ID |
203864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clasp1
|
| Ensembl Gene |
ENSMUSG00000064302 |
| Gene Name |
CLIP associating protein 1 |
| Synonyms |
CLASP1alpha, 1700030C23Rik, 5730583A19Rik, CLASP1, B130045P17Rik, mCLASP1 |
| MMRRC Submission |
039884-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R1861 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
118314976-118537192 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118498661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 898
(F898L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049404]
[ENSMUST00000070989]
[ENSMUST00000165223]
[ENSMUST00000178710]
[ENSMUST00000185405]
[ENSMUST00000186349]
[ENSMUST00000187713]
[ENSMUST00000190571]
[ENSMUST00000189570]
[ENSMUST00000189738]
[ENSMUST00000188710]
[ENSMUST00000189262]
[ENSMUST00000191823]
[ENSMUST00000191445]
[ENSMUST00000204325]
[ENSMUST00000190733]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049404
AA Change: F1190L
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000042266
Gene: ENSMUSG00000064302
AA Change: F1190L
| Domain | Start | End | E-Value | Type |
|---|
|
TOG
|
1 |
232 |
7.31e-51 |
SMART |
|
low complexity region
|
252 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
296 |
N/A |
INTRINSIC |
|
TOG
|
319 |
551 |
1.14e-11 |
SMART |
|
low complexity region
|
579 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
831 |
N/A |
INTRINSIC |
|
TOG
|
847 |
1085 |
3.23e-1 |
SMART |
|
low complexity region
|
1096 |
1113 |
N/A |
INTRINSIC |
|
low complexity region
|
1134 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1225 |
1236 |
N/A |
INTRINSIC |
|
TOG
|
1287 |
1525 |
4.96e-30 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070989
AA Change: F1180L
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000067858
Gene: ENSMUSG00000064302
AA Change: F1180L
| Domain | Start | End | E-Value | Type |
|---|
|
TOG
|
1 |
232 |
7.31e-51 |
SMART |
|
low complexity region
|
252 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
296 |
N/A |
INTRINSIC |
|
TOG
|
319 |
551 |
1.14e-11 |
SMART |
|
low complexity region
|
579 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
850 |
860 |
N/A |
INTRINSIC |
|
TOG
|
876 |
1114 |
3.23e-1 |
SMART |
|
low complexity region
|
1125 |
1142 |
N/A |
INTRINSIC |
|
low complexity region
|
1215 |
1226 |
N/A |
INTRINSIC |
|
TOG
|
1277 |
1515 |
4.96e-30 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165223
AA Change: F1106L
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128089
Gene: ENSMUSG00000064302
AA Change: F1106L
| Domain | Start | End | E-Value | Type |
|---|
|
TOG
|
1 |
232 |
7.31e-51 |
SMART |
|
low complexity region
|
252 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
296 |
N/A |
INTRINSIC |
|
TOG
|
319 |
551 |
1.14e-11 |
SMART |
|
low complexity region
|
579 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
684 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
802 |
N/A |
INTRINSIC |
|
TOG
|
818 |
1056 |
3.23e-1 |
SMART |
|
low complexity region
|
1067 |
1084 |
N/A |
INTRINSIC |
|
low complexity region
|
1157 |
1168 |
N/A |
INTRINSIC |
|
TOG
|
1219 |
1457 |
4.96e-30 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178710
AA Change: F1113L
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000137137
Gene: ENSMUSG00000064302
AA Change: F1113L
| Domain | Start | End | E-Value | Type |
|---|
|
TOG
|
1 |
232 |
7.31e-51 |
SMART |
|
low complexity region
|
252 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
296 |
N/A |
INTRINSIC |
|
TOG
|
319 |
551 |
1.14e-11 |
SMART |
|
low complexity region
|
579 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
668 |
698 |
N/A |
INTRINSIC |
|
low complexity region
|
752 |
766 |
N/A |
INTRINSIC |
|
low complexity region
|
784 |
794 |
N/A |
INTRINSIC |
|
TOG
|
810 |
1047 |
6.55e-2 |
SMART |
|
low complexity region
|
1058 |
1075 |
N/A |
INTRINSIC |
|
low complexity region
|
1148 |
1159 |
N/A |
INTRINSIC |
|
TOG
|
1210 |
1448 |
4.96e-30 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000185405
AA Change: F1146L
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139619
Gene: ENSMUSG00000064302
AA Change: F1146L
| Domain | Start | End | E-Value | Type |
|---|
|
TOG
|
1 |
232 |
3.4e-55 |
SMART |
|
low complexity region
|
252 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
296 |
N/A |
INTRINSIC |
|
TOG
|
319 |
551 |
5.5e-16 |
SMART |
|
low complexity region
|
579 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
769 |
783 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
811 |
N/A |
INTRINSIC |
|
TOG
|
827 |
1065 |
1.6e-5 |
SMART |
|
low complexity region
|
1076 |
1093 |
N/A |
INTRINSIC |
|
low complexity region
|
1166 |
1177 |
N/A |
INTRINSIC |
|
TOG
|
1228 |
1466 |
2.3e-34 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186349
AA Change: F1190L
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141105
Gene: ENSMUSG00000064302
AA Change: F1190L
| Domain | Start | End | E-Value | Type |
|---|
|
TOG
|
1 |
232 |
7.31e-51 |
SMART |
|
low complexity region
|
252 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
296 |
N/A |
INTRINSIC |
|
TOG
|
319 |
551 |
1.14e-11 |
SMART |
|
low complexity region
|
579 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
831 |
N/A |
INTRINSIC |
|
TOG
|
847 |
1085 |
3.23e-1 |
SMART |
|
low complexity region
|
1096 |
1113 |
N/A |
INTRINSIC |
|
low complexity region
|
1134 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1225 |
1236 |
N/A |
INTRINSIC |
|
TOG
|
1287 |
1525 |
4.96e-30 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187713
AA Change: F1129L
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139526
Gene: ENSMUSG00000064302
AA Change: F1129L
| Domain | Start | End | E-Value | Type |
|---|
|
TOG
|
1 |
232 |
3.4e-55 |
SMART |
|
low complexity region
|
252 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
296 |
N/A |
INTRINSIC |
|
TOG
|
319 |
551 |
5.5e-16 |
SMART |
|
low complexity region
|
579 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
684 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
768 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
810 |
N/A |
INTRINSIC |
|
TOG
|
826 |
1064 |
1.6e-5 |
SMART |
|
low complexity region
|
1075 |
1092 |
N/A |
INTRINSIC |
|
low complexity region
|
1165 |
1176 |
N/A |
INTRINSIC |
|
TOG
|
1227 |
1465 |
2.3e-34 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190571
AA Change: F1206L
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140019
Gene: ENSMUSG00000064302
AA Change: F1206L
| Domain | Start | End | E-Value | Type |
|---|
|
TOG
|
1 |
232 |
3.4e-55 |
SMART |
|
low complexity region
|
252 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
296 |
N/A |
INTRINSIC |
|
TOG
|
319 |
551 |
5.5e-16 |
SMART |
|
low complexity region
|
579 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
771 |
N/A |
INTRINSIC |
|
low complexity region
|
805 |
819 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
847 |
N/A |
INTRINSIC |
|
TOG
|
863 |
1101 |
1.6e-5 |
SMART |
|
low complexity region
|
1112 |
1129 |
N/A |
INTRINSIC |
|
low complexity region
|
1150 |
1163 |
N/A |
INTRINSIC |
|
low complexity region
|
1241 |
1252 |
N/A |
INTRINSIC |
|
TOG
|
1303 |
1541 |
2.3e-34 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189570
AA Change: F1122L
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140167
Gene: ENSMUSG00000064302
AA Change: F1122L
| Domain | Start | End | E-Value | Type |
|---|
|
TOG
|
1 |
232 |
3.4e-55 |
SMART |
|
low complexity region
|
252 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
296 |
N/A |
INTRINSIC |
|
TOG
|
319 |
551 |
5.5e-16 |
SMART |
|
low complexity region
|
579 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
684 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
802 |
N/A |
INTRINSIC |
|
TOG
|
818 |
1055 |
3.2e-6 |
SMART |
|
low complexity region
|
1066 |
1083 |
N/A |
INTRINSIC |
|
low complexity region
|
1156 |
1167 |
N/A |
INTRINSIC |
|
TOG
|
1218 |
1456 |
2.3e-34 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189738
AA Change: F1131L
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140665
Gene: ENSMUSG00000064302
AA Change: F1131L
| Domain | Start | End | E-Value | Type |
|---|
|
TOG
|
1 |
232 |
7.31e-51 |
SMART |
|
low complexity region
|
252 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
296 |
N/A |
INTRINSIC |
|
TOG
|
319 |
551 |
1.14e-11 |
SMART |
|
low complexity region
|
579 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
668 |
698 |
N/A |
INTRINSIC |
|
low complexity region
|
752 |
766 |
N/A |
INTRINSIC |
|
low complexity region
|
784 |
794 |
N/A |
INTRINSIC |
|
TOG
|
810 |
1048 |
3.23e-1 |
SMART |
|
low complexity region
|
1059 |
1076 |
N/A |
INTRINSIC |
|
low complexity region
|
1149 |
1160 |
N/A |
INTRINSIC |
|
TOG
|
1211 |
1449 |
4.96e-30 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188710
AA Change: F1180L
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140593
Gene: ENSMUSG00000064302
AA Change: F1180L
| Domain | Start | End | E-Value | Type |
|---|
|
TOG
|
1 |
232 |
3.4e-55 |
SMART |
|
low complexity region
|
252 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
296 |
N/A |
INTRINSIC |
|
TOG
|
319 |
551 |
5.5e-16 |
SMART |
|
low complexity region
|
579 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
818 |
832 |
N/A |
INTRINSIC |
|
low complexity region
|
850 |
860 |
N/A |
INTRINSIC |
|
TOG
|
876 |
1114 |
1.6e-5 |
SMART |
|
low complexity region
|
1125 |
1142 |
N/A |
INTRINSIC |
|
low complexity region
|
1215 |
1226 |
N/A |
INTRINSIC |
|
TOG
|
1277 |
1515 |
2.3e-34 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189262
AA Change: F1114L
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140860
Gene: ENSMUSG00000064302
AA Change: F1114L
| Domain | Start | End | E-Value | Type |
|---|
|
TOG
|
1 |
232 |
3.4e-55 |
SMART |
|
low complexity region
|
252 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
296 |
N/A |
INTRINSIC |
|
TOG
|
319 |
551 |
5.5e-16 |
SMART |
|
low complexity region
|
579 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
668 |
698 |
N/A |
INTRINSIC |
|
low complexity region
|
776 |
786 |
N/A |
INTRINSIC |
|
TOG
|
802 |
1040 |
1.6e-5 |
SMART |
|
low complexity region
|
1051 |
1068 |
N/A |
INTRINSIC |
|
low complexity region
|
1141 |
1152 |
N/A |
INTRINSIC |
|
TOG
|
1203 |
1441 |
2.3e-34 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191823
AA Change: F898L
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142203
Gene: ENSMUSG00000064302
AA Change: F898L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
64 |
N/A |
INTRINSIC |
|
TOG
|
87 |
319 |
5.6e-16 |
SMART |
|
low complexity region
|
347 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
401 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
483 |
N/A |
INTRINSIC |
|
low complexity region
|
537 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
568 |
578 |
N/A |
INTRINSIC |
|
TOG
|
594 |
832 |
1.6e-5 |
SMART |
|
low complexity region
|
843 |
860 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
944 |
N/A |
INTRINSIC |
|
TOG
|
995 |
1233 |
2.4e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191445
AA Change: F1123L
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000140095
Gene: ENSMUSG00000064302
AA Change: F1123L
| Domain | Start | End | E-Value | Type |
|---|
|
TOG
|
1 |
232 |
3.4e-55 |
SMART |
|
low complexity region
|
252 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
296 |
N/A |
INTRINSIC |
|
TOG
|
319 |
551 |
5.5e-16 |
SMART |
|
low complexity region
|
579 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
775 |
N/A |
INTRINSIC |
|
low complexity region
|
793 |
803 |
N/A |
INTRINSIC |
|
TOG
|
819 |
1056 |
3.2e-6 |
SMART |
|
low complexity region
|
1067 |
1084 |
N/A |
INTRINSIC |
|
low complexity region
|
1157 |
1168 |
N/A |
INTRINSIC |
|
TOG
|
1219 |
1457 |
2.3e-34 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000192387
AA Change: F237L
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203646
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204325
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190733
|
| Meta Mutation Damage Score |
0.0694 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.0%
|
| Validation Efficiency |
97% (117/121) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CLASPs, such as CLASP1, are nonmotor microtubule-associated proteins that interact with CLIPs (e.g., CLIP170; MIM 179838). CLASP1 is involved in the regulation of microtubule dynamics at the kinetochore and throughout the spindle (Maiato et al., 2003 [PubMed 12837247]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 113 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579C12Rik |
C |
A |
9: 89,034,884 (GRCm39) |
|
noncoding transcript |
Het |
| Abra |
C |
A |
15: 41,732,430 (GRCm39) |
R212L |
probably damaging |
Het |
| Actr1a |
T |
C |
19: 46,372,714 (GRCm39) |
E87G |
probably damaging |
Het |
| Adam26a |
A |
G |
8: 44,022,578 (GRCm39) |
V304A |
possibly damaging |
Het |
| Alg2 |
T |
A |
4: 47,471,670 (GRCm39) |
K379N |
probably benign |
Het |
| Alk |
G |
T |
17: 72,181,933 (GRCm39) |
|
probably benign |
Het |
| Aopep |
A |
G |
13: 63,163,597 (GRCm39) |
Y206C |
probably damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,531,475 (GRCm39) |
Y331H |
probably damaging |
Het |
| Art3 |
A |
G |
5: 92,560,094 (GRCm39) |
|
probably benign |
Het |
| Asap1 |
G |
A |
15: 64,007,647 (GRCm39) |
|
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,960,114 (GRCm39) |
|
probably null |
Het |
| Atp8b5 |
G |
A |
4: 43,372,906 (GRCm39) |
R1150H |
probably damaging |
Het |
| Bltp2 |
C |
T |
11: 78,178,755 (GRCm39) |
|
probably benign |
Het |
| Brdt |
T |
C |
5: 107,507,324 (GRCm39) |
S575P |
probably benign |
Het |
| Capn3 |
T |
A |
2: 120,316,963 (GRCm39) |
|
probably benign |
Het |
| Casd1 |
T |
A |
6: 4,640,951 (GRCm39) |
Y691N |
probably damaging |
Het |
| Ccdc127 |
T |
G |
13: 74,505,098 (GRCm39) |
H215Q |
possibly damaging |
Het |
| Cenpe |
T |
C |
3: 134,974,740 (GRCm39) |
L2300P |
probably damaging |
Het |
| Clcn1 |
C |
A |
6: 42,290,925 (GRCm39) |
P933Q |
possibly damaging |
Het |
| Cntn3 |
T |
A |
6: 102,222,032 (GRCm39) |
N489I |
probably benign |
Het |
| Col16a1 |
T |
C |
4: 129,955,517 (GRCm39) |
|
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,243,022 (GRCm39) |
|
probably null |
Het |
| Col8a2 |
C |
T |
4: 126,205,417 (GRCm39) |
|
probably benign |
Het |
| Cpd |
T |
C |
11: 76,675,208 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,522,588 (GRCm39) |
C2694S |
probably damaging |
Het |
| Cyp2c40 |
T |
C |
19: 39,775,319 (GRCm39) |
Y311C |
probably benign |
Het |
| Dennd5b |
T |
A |
6: 148,969,760 (GRCm39) |
N231I |
probably damaging |
Het |
| Dgkh |
T |
A |
14: 78,816,232 (GRCm39) |
H936L |
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,170,347 (GRCm39) |
|
probably null |
Het |
| Dnai2 |
T |
C |
11: 114,643,777 (GRCm39) |
V481A |
possibly damaging |
Het |
| Dnai3 |
T |
C |
3: 145,788,801 (GRCm39) |
Y260C |
probably damaging |
Het |
| Dpyd |
T |
G |
3: 118,710,780 (GRCm39) |
V396G |
probably damaging |
Het |
| Elmo3 |
A |
G |
8: 106,035,213 (GRCm39) |
D448G |
probably damaging |
Het |
| Emsy |
A |
T |
7: 98,290,822 (GRCm39) |
V100E |
probably damaging |
Het |
| Erbb2 |
T |
C |
11: 98,303,563 (GRCm39) |
|
probably null |
Het |
| Faah |
T |
C |
4: 115,865,432 (GRCm39) |
K85R |
probably benign |
Het |
| Fam149a |
A |
T |
8: 45,792,399 (GRCm39) |
Y686* |
probably null |
Het |
| Fat4 |
T |
C |
3: 39,064,633 (GRCm39) |
V4863A |
probably benign |
Het |
| Fbxl8 |
A |
G |
8: 105,995,561 (GRCm39) |
T358A |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,854,157 (GRCm39) |
Y1707C |
probably damaging |
Het |
| Fgfr3 |
A |
G |
5: 33,887,090 (GRCm39) |
T165A |
probably damaging |
Het |
| Fnbp1l |
A |
T |
3: 122,354,581 (GRCm39) |
H180Q |
probably damaging |
Het |
| Gm8180 |
T |
A |
14: 44,021,196 (GRCm39) |
H4L |
probably benign |
Het |
| Gon4l |
T |
C |
3: 88,802,794 (GRCm39) |
V1135A |
probably damaging |
Het |
| Gstcd |
G |
T |
3: 132,688,868 (GRCm39) |
N627K |
probably damaging |
Het |
| Gtf2a1l |
G |
A |
17: 89,022,382 (GRCm39) |
V458I |
probably damaging |
Het |
| Gtf3c3 |
T |
C |
1: 54,477,997 (GRCm39) |
E26G |
possibly damaging |
Het |
| Hrct1 |
A |
T |
4: 43,727,404 (GRCm39) |
T15S |
probably benign |
Het |
| Ift122 |
C |
A |
6: 115,868,889 (GRCm39) |
R459S |
probably damaging |
Het |
| Irf1 |
T |
A |
11: 53,665,183 (GRCm39) |
C187S |
possibly damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,607,736 (GRCm39) |
V615A |
probably damaging |
Het |
| Kif1c |
T |
C |
11: 70,594,168 (GRCm39) |
S61P |
probably damaging |
Het |
| Mamdc2 |
T |
C |
19: 23,336,517 (GRCm39) |
T331A |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,268,128 (GRCm39) |
D25G |
possibly damaging |
Het |
| Me2 |
T |
C |
18: 73,918,785 (GRCm39) |
D432G |
probably benign |
Het |
| Mfap3 |
T |
C |
11: 57,419,032 (GRCm39) |
V64A |
probably benign |
Het |
| Nadk2 |
T |
A |
15: 9,108,399 (GRCm39) |
M416K |
probably benign |
Het |
| Ndufs1 |
C |
T |
1: 63,186,576 (GRCm39) |
G631D |
probably benign |
Het |
| Nomo1 |
G |
A |
7: 45,727,525 (GRCm39) |
V1055I |
probably benign |
Het |
| Nuggc |
T |
A |
14: 65,879,450 (GRCm39) |
|
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,962,197 (GRCm39) |
S594P |
probably damaging |
Het |
| Or13c3 |
T |
A |
4: 52,856,373 (GRCm39) |
I47L |
probably benign |
Het |
| Or4a27 |
T |
G |
2: 88,559,674 (GRCm39) |
I90L |
probably damaging |
Het |
| Or4b1b |
C |
A |
2: 90,112,502 (GRCm39) |
C139F |
probably damaging |
Het |
| Or5b113 |
T |
A |
19: 13,342,705 (GRCm39) |
S238T |
possibly damaging |
Het |
| Or6p1 |
T |
C |
1: 174,258,657 (GRCm39) |
I221T |
probably damaging |
Het |
| Or8c10 |
C |
T |
9: 38,278,902 (GRCm39) |
S10L |
probably benign |
Het |
| Pakap |
A |
G |
4: 57,709,468 (GRCm39) |
I138V |
probably damaging |
Het |
| Pcyt2 |
G |
A |
11: 120,501,968 (GRCm39) |
P332S |
probably benign |
Het |
| Phaf1 |
A |
G |
8: 105,966,703 (GRCm39) |
E150G |
probably null |
Het |
| Phf14 |
A |
T |
6: 11,987,610 (GRCm39) |
M630L |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 123,222,489 (GRCm39) |
N919S |
possibly damaging |
Het |
| Pif1 |
A |
T |
9: 65,496,735 (GRCm39) |
I283F |
probably damaging |
Het |
| Pknox2 |
G |
A |
9: 36,834,957 (GRCm39) |
H171Y |
probably damaging |
Het |
| Pramel17 |
A |
T |
4: 101,694,135 (GRCm39) |
D249E |
probably benign |
Het |
| Prkg2 |
T |
A |
5: 99,095,275 (GRCm39) |
D632V |
probably damaging |
Het |
| Prr29 |
G |
A |
11: 106,266,264 (GRCm39) |
A6T |
probably damaging |
Het |
| Rims1 |
T |
A |
1: 22,635,639 (GRCm39) |
Y114F |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,708,977 (GRCm39) |
D4796E |
unknown |
Het |
| Scnn1b |
G |
A |
7: 121,513,484 (GRCm39) |
C399Y |
probably damaging |
Het |
| Scp2 |
T |
C |
4: 107,948,518 (GRCm39) |
Y153C |
probably damaging |
Het |
| Sema3d |
A |
G |
5: 12,547,570 (GRCm39) |
K164R |
probably benign |
Het |
| Siglecf |
A |
G |
7: 43,001,648 (GRCm39) |
T153A |
probably benign |
Het |
| Siglecf |
A |
G |
7: 43,004,967 (GRCm39) |
N399S |
probably benign |
Het |
| Skint2 |
T |
C |
4: 112,504,315 (GRCm39) |
|
probably benign |
Het |
| Slc22a8 |
G |
A |
19: 8,583,503 (GRCm39) |
R236H |
probably damaging |
Het |
| Slc25a40 |
T |
A |
5: 8,492,431 (GRCm39) |
|
probably null |
Het |
| Slc26a5 |
T |
C |
5: 22,021,956 (GRCm39) |
D490G |
possibly damaging |
Het |
| Slc26a7 |
G |
T |
4: 14,522,873 (GRCm39) |
D482E |
probably benign |
Het |
| Smarca2 |
A |
T |
19: 26,601,284 (GRCm39) |
M77L |
probably benign |
Het |
| Sos2 |
A |
G |
12: 69,664,137 (GRCm39) |
L449P |
probably damaging |
Het |
| Spaca1 |
A |
G |
4: 34,044,206 (GRCm39) |
V96A |
probably damaging |
Het |
| Spata31d1b |
T |
A |
13: 59,865,150 (GRCm39) |
I766N |
possibly damaging |
Het |
| Specc1l |
T |
C |
10: 75,145,693 (GRCm39) |
Y1113H |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,365,649 (GRCm39) |
R677G |
probably damaging |
Het |
| Taf5l |
A |
T |
8: 124,724,729 (GRCm39) |
D363E |
probably damaging |
Het |
| Tex56 |
A |
T |
13: 35,116,490 (GRCm39) |
I80F |
possibly damaging |
Het |
| Tmem208 |
A |
G |
8: 106,061,438 (GRCm39) |
K155E |
possibly damaging |
Het |
| Tppp2 |
A |
C |
14: 52,158,062 (GRCm39) |
N169T |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,752,727 (GRCm39) |
|
probably null |
Het |
| Ttll6 |
T |
A |
11: 96,029,700 (GRCm39) |
Y204* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,602,992 (GRCm39) |
I18410K |
probably benign |
Het |
| V1rd19 |
T |
A |
7: 23,703,149 (GRCm39) |
V205D |
probably damaging |
Het |
| Vdac3 |
A |
T |
8: 23,070,515 (GRCm39) |
I132K |
possibly damaging |
Het |
| Vmn2r95 |
T |
G |
17: 18,672,530 (GRCm39) |
C756G |
probably damaging |
Het |
| Zc3h15 |
A |
G |
2: 83,494,334 (GRCm39) |
T421A |
unknown |
Het |
| Zc3hc1 |
T |
C |
6: 30,374,837 (GRCm39) |
T235A |
probably benign |
Het |
| Zcchc14 |
A |
G |
8: 122,335,990 (GRCm39) |
|
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,722,366 (GRCm39) |
N1456K |
possibly damaging |
Het |
| Zfp606 |
A |
G |
7: 12,214,858 (GRCm39) |
|
probably benign |
Het |
| Zfp811 |
T |
A |
17: 33,016,399 (GRCm39) |
H546L |
probably damaging |
Het |
| Zfp94 |
A |
T |
7: 24,008,541 (GRCm39) |
Y33N |
probably damaging |
Het |
| Zfyve9 |
G |
T |
4: 108,539,492 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Clasp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01785:Clasp1
|
APN |
1 |
118,425,466 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL01786:Clasp1
|
APN |
1 |
118,425,466 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL01871:Clasp1
|
APN |
1 |
118,498,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02066:Clasp1
|
APN |
1 |
118,492,990 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02602:Clasp1
|
APN |
1 |
118,399,515 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02683:Clasp1
|
APN |
1 |
118,466,996 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02728:Clasp1
|
APN |
1 |
118,530,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02820:Clasp1
|
APN |
1 |
118,478,834 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02874:Clasp1
|
APN |
1 |
118,479,773 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02975:Clasp1
|
APN |
1 |
118,390,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03100:Clasp1
|
APN |
1 |
118,395,626 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03115:Clasp1
|
APN |
1 |
118,429,053 (GRCm39) |
nonsense |
probably null |
|
|
IGL03122:Clasp1
|
APN |
1 |
118,438,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03180:Clasp1
|
APN |
1 |
118,433,255 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03248:Clasp1
|
APN |
1 |
118,530,206 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03388:Clasp1
|
APN |
1 |
118,433,233 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
F5770:Clasp1
|
UTSW |
1 |
118,509,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I2288:Clasp1
|
UTSW |
1 |
118,492,959 (GRCm39) |
missense |
probably benign |
0.09 |
|
PIT4585001:Clasp1
|
UTSW |
1 |
118,390,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0079:Clasp1
|
UTSW |
1 |
118,471,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0395:Clasp1
|
UTSW |
1 |
118,467,061 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0960:Clasp1
|
UTSW |
1 |
118,479,756 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1448:Clasp1
|
UTSW |
1 |
118,436,646 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1497:Clasp1
|
UTSW |
1 |
118,479,788 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1607:Clasp1
|
UTSW |
1 |
118,432,689 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1722:Clasp1
|
UTSW |
1 |
118,518,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1758:Clasp1
|
UTSW |
1 |
118,475,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1765:Clasp1
|
UTSW |
1 |
118,433,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1855:Clasp1
|
UTSW |
1 |
118,436,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Clasp1
|
UTSW |
1 |
118,528,315 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1942:Clasp1
|
UTSW |
1 |
118,429,078 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2025:Clasp1
|
UTSW |
1 |
118,432,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2174:Clasp1
|
UTSW |
1 |
118,487,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2280:Clasp1
|
UTSW |
1 |
118,492,913 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2288:Clasp1
|
UTSW |
1 |
118,506,608 (GRCm39) |
missense |
probably benign |
|
|
R2895:Clasp1
|
UTSW |
1 |
118,387,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3958:Clasp1
|
UTSW |
1 |
118,395,611 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4073:Clasp1
|
UTSW |
1 |
118,431,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4206:Clasp1
|
UTSW |
1 |
118,506,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4465:Clasp1
|
UTSW |
1 |
118,488,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4609:Clasp1
|
UTSW |
1 |
118,430,765 (GRCm39) |
intron |
probably benign |
|
|
R4679:Clasp1
|
UTSW |
1 |
118,471,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4707:Clasp1
|
UTSW |
1 |
118,470,927 (GRCm39) |
nonsense |
probably null |
|
|
R4809:Clasp1
|
UTSW |
1 |
118,388,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4906:Clasp1
|
UTSW |
1 |
118,436,640 (GRCm39) |
nonsense |
probably null |
|
|
R5048:Clasp1
|
UTSW |
1 |
118,475,340 (GRCm39) |
intron |
probably benign |
|
|
R5298:Clasp1
|
UTSW |
1 |
118,475,650 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5485:Clasp1
|
UTSW |
1 |
118,395,643 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5516:Clasp1
|
UTSW |
1 |
118,425,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5821:Clasp1
|
UTSW |
1 |
118,518,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5911:Clasp1
|
UTSW |
1 |
118,434,638 (GRCm39) |
unclassified |
probably benign |
|
|
R6092:Clasp1
|
UTSW |
1 |
118,438,028 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6181:Clasp1
|
UTSW |
1 |
118,347,547 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6478:Clasp1
|
UTSW |
1 |
118,439,910 (GRCm39) |
nonsense |
probably null |
|
|
R7090:Clasp1
|
UTSW |
1 |
118,409,816 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7216:Clasp1
|
UTSW |
1 |
118,475,648 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7508:Clasp1
|
UTSW |
1 |
118,473,164 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7541:Clasp1
|
UTSW |
1 |
118,470,727 (GRCm39) |
splice site |
probably null |
|
|
R7644:Clasp1
|
UTSW |
1 |
118,440,480 (GRCm39) |
splice site |
probably null |
|
|
R7825:Clasp1
|
UTSW |
1 |
118,473,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7910:Clasp1
|
UTSW |
1 |
118,530,144 (GRCm39) |
nonsense |
probably null |
|
|
R7971:Clasp1
|
UTSW |
1 |
118,449,559 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8074:Clasp1
|
UTSW |
1 |
118,390,213 (GRCm39) |
missense |
probably benign |
|
|
R8344:Clasp1
|
UTSW |
1 |
118,431,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8847:Clasp1
|
UTSW |
1 |
118,506,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9035:Clasp1
|
UTSW |
1 |
118,431,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9073:Clasp1
|
UTSW |
1 |
118,390,193 (GRCm39) |
splice site |
probably null |
|
|
R9161:Clasp1
|
UTSW |
1 |
118,474,651 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9184:Clasp1
|
UTSW |
1 |
118,470,908 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9379:Clasp1
|
UTSW |
1 |
118,509,168 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9379:Clasp1
|
UTSW |
1 |
118,509,157 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9422:Clasp1
|
UTSW |
1 |
118,390,257 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9516:Clasp1
|
UTSW |
1 |
118,431,560 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9566:Clasp1
|
UTSW |
1 |
118,479,801 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9776:Clasp1
|
UTSW |
1 |
118,509,108 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
V7581:Clasp1
|
UTSW |
1 |
118,509,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Clasp1
|
UTSW |
1 |
118,478,855 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTCCAGTTAACCGAAACCC -3'
(R):5'- AAGCTGAGAACCACTCTTCTG -3'
Sequencing Primer
(F):5'- GTTAACCGAAACCCAAGTATAATGAG -3'
(R):5'- GCTGAGAACCACTCTTCTGAAATG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation