Incidental Mutation 'R0395:Clasp1'
| ID |
31909 |
| 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 |
038601-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R0395 (G1)
|
| Quality Score |
195 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
118314976-118537192 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118467061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 534
(T534A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049404]
[ENSMUST00000070989]
[ENSMUST00000165223]
[ENSMUST00000178710]
[ENSMUST00000185405]
[ENSMUST00000186349]
[ENSMUST00000187713]
[ENSMUST00000191823]
[ENSMUST00000189738]
[ENSMUST00000189570]
[ENSMUST00000188710]
[ENSMUST00000189262]
[ENSMUST00000191445]
[ENSMUST00000190571]
[ENSMUST00000204325]
[ENSMUST00000190733]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049404
AA Change: T794A
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000042266
Gene: ENSMUSG00000064302
AA Change: T794A
| 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 |
probably benign
Transcript: ENSMUST00000070989
AA Change: T815A
PolyPhen 2
Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000067858
Gene: ENSMUSG00000064302
AA Change: T815A
| 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: T749A
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128089
Gene: ENSMUSG00000064302
AA Change: T749A
| 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: T749A
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000137137
Gene: ENSMUSG00000064302
AA Change: T749A
| 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 |
probably benign
Transcript: ENSMUST00000185405
AA Change: T758A
PolyPhen 2
Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139619
Gene: ENSMUSG00000064302
AA Change: T758A
| 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 |
probably benign
Transcript: ENSMUST00000186349
AA Change: T794A
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000141105
Gene: ENSMUSG00000064302
AA Change: T794A
| 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 |
probably benign
Transcript: ENSMUST00000187713
AA Change: T765A
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139526
Gene: ENSMUSG00000064302
AA Change: T765A
| 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: ENSMUST00000191823
AA Change: T534A
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142203
Gene: ENSMUSG00000064302
AA Change: T534A
| 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 |
possibly damaging
Transcript: ENSMUST00000189738
AA Change: T766A
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140665
Gene: ENSMUSG00000064302
AA Change: T766A
| 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: ENSMUST00000189570
AA Change: T765A
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140167
Gene: ENSMUSG00000064302
AA Change: T765A
| 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 |
probably benign
Transcript: ENSMUST00000188710
AA Change: T815A
PolyPhen 2
Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000140593
Gene: ENSMUSG00000064302
AA Change: T815A
| 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 |
probably benign
Transcript: ENSMUST00000189262
AA Change: T749A
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000140860
Gene: ENSMUSG00000064302
AA Change: T749A
| 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 |
probably benign
Transcript: ENSMUST00000191445
AA Change: T758A
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000140095
Gene: ENSMUSG00000064302
AA Change: T758A
| 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 |
probably benign
Transcript: ENSMUST00000190571
AA Change: T802A
PolyPhen 2
Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000140019
Gene: ENSMUSG00000064302
AA Change: T802A
| 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 |
unknown
Transcript: ENSMUST00000205176
AA Change: T145A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203646
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204325
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189384
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190733
|
| Meta Mutation Damage Score |
0.0876 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 91.4%
|
| Validation Efficiency |
98% (103/105) |
| 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: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
T |
C |
13: 59,837,470 (GRCm39) |
K205R |
possibly damaging |
Het |
| 9630041A04Rik |
A |
T |
9: 101,819,934 (GRCm39) |
N118I |
probably damaging |
Het |
| AAdacl4fm3 |
A |
G |
4: 144,429,765 (GRCm39) |
V408A |
probably benign |
Het |
| Acsm2 |
G |
A |
7: 119,174,969 (GRCm39) |
D245N |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,534,072 (GRCm39) |
H5836Q |
probably benign |
Het |
| Ahcyl2 |
T |
C |
6: 29,886,167 (GRCm39) |
V391A |
probably damaging |
Het |
| Alcam |
A |
T |
16: 52,130,227 (GRCm39) |
M41K |
probably benign |
Het |
| Aldh3b3 |
A |
C |
19: 4,016,472 (GRCm39) |
E363D |
probably benign |
Het |
| Alk |
A |
G |
17: 72,910,526 (GRCm39) |
V60A |
probably damaging |
Het |
| Als2cl |
G |
A |
9: 110,727,152 (GRCm39) |
R906H |
probably damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,456,317 (GRCm39) |
|
probably benign |
Het |
| Apba2 |
T |
A |
7: 64,393,156 (GRCm39) |
I547N |
probably benign |
Het |
| Apol10b |
A |
T |
15: 77,469,840 (GRCm39) |
D112E |
probably damaging |
Het |
| Ash1l |
C |
A |
3: 88,965,896 (GRCm39) |
R2433S |
probably damaging |
Het |
| Cachd1 |
T |
C |
4: 100,810,402 (GRCm39) |
F335L |
probably damaging |
Het |
| Cbfa2t3 |
G |
T |
8: 123,365,690 (GRCm39) |
Q181K |
probably benign |
Het |
| Cct6b |
A |
G |
11: 82,630,506 (GRCm39) |
M265T |
probably benign |
Het |
| Cd151 |
G |
A |
7: 141,050,304 (GRCm39) |
V180I |
probably damaging |
Het |
| Ces1h |
T |
A |
8: 94,083,706 (GRCm39) |
N412I |
unknown |
Het |
| Chmp7 |
T |
C |
14: 69,969,905 (GRCm39) |
T12A |
probably benign |
Het |
| Cldn15 |
T |
A |
5: 136,997,052 (GRCm39) |
V31E |
possibly damaging |
Het |
| Col16a1 |
G |
A |
4: 129,966,902 (GRCm39) |
G583D |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,396,652 (GRCm39) |
N426S |
probably damaging |
Het |
| Dapp1 |
C |
T |
3: 137,641,398 (GRCm39) |
C199Y |
possibly damaging |
Het |
| Dchs1 |
A |
G |
7: 105,407,745 (GRCm39) |
L2029P |
probably damaging |
Het |
| Dmc1 |
A |
G |
15: 79,472,973 (GRCm39) |
F158S |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
| Dthd1 |
T |
A |
5: 62,971,676 (GRCm39) |
N166K |
possibly damaging |
Het |
| Enam |
A |
T |
5: 88,649,367 (GRCm39) |
Y292F |
probably damaging |
Het |
| Esrrg |
A |
T |
1: 187,930,832 (GRCm39) |
I285F |
probably damaging |
Het |
| Fam50b |
A |
G |
13: 34,931,220 (GRCm39) |
D232G |
probably damaging |
Het |
| Fam91a1 |
T |
A |
15: 58,326,641 (GRCm39) |
S792T |
probably benign |
Het |
| Fbxw22 |
A |
C |
9: 109,210,753 (GRCm39) |
C419W |
probably damaging |
Het |
| Flt4 |
G |
A |
11: 49,521,170 (GRCm39) |
S393N |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,917,512 (GRCm39) |
T3511S |
possibly damaging |
Het |
| Frat2 |
A |
C |
19: 41,836,263 (GRCm39) |
S30A |
probably damaging |
Het |
| Glp1r |
T |
A |
17: 31,155,312 (GRCm39) |
M433K |
probably benign |
Het |
| Gm10300 |
G |
A |
4: 131,802,299 (GRCm39) |
|
probably benign |
Het |
| Gpatch4 |
A |
G |
3: 87,961,661 (GRCm39) |
|
probably benign |
Het |
| Gpr22 |
A |
T |
12: 31,759,461 (GRCm39) |
S220R |
possibly damaging |
Het |
| Grn |
T |
C |
11: 102,327,049 (GRCm39) |
V549A |
probably benign |
Het |
| Gtf3c5 |
T |
C |
2: 28,467,930 (GRCm39) |
D177G |
probably damaging |
Het |
| Htr1b |
A |
T |
9: 81,513,704 (GRCm39) |
M301K |
probably benign |
Het |
| Ifi207 |
A |
T |
1: 173,557,431 (GRCm39) |
S436T |
possibly damaging |
Het |
| Ifnb1 |
A |
T |
4: 88,440,766 (GRCm39) |
N82K |
possibly damaging |
Het |
| Ina |
T |
G |
19: 47,010,358 (GRCm39) |
N384K |
probably damaging |
Het |
| Kirrel2 |
T |
C |
7: 30,149,883 (GRCm39) |
N541D |
possibly damaging |
Het |
| Lrp2 |
A |
T |
2: 69,263,421 (GRCm39) |
I4377N |
possibly damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,355,221 (GRCm39) |
V2532A |
unknown |
Het |
| Mast4 |
T |
C |
13: 102,871,781 (GRCm39) |
E2529G |
probably damaging |
Het |
| Myh6 |
T |
C |
14: 55,183,777 (GRCm39) |
H1719R |
possibly damaging |
Het |
| Myo5a |
A |
T |
9: 75,101,259 (GRCm39) |
H150L |
probably benign |
Het |
| Naglu |
C |
T |
11: 100,964,933 (GRCm39) |
|
probably benign |
Het |
| Nags |
G |
A |
11: 102,036,530 (GRCm39) |
A40T |
unknown |
Het |
| Nav1 |
G |
T |
1: 135,460,359 (GRCm39) |
Y321* |
probably null |
Het |
| Nav1 |
A |
T |
1: 135,460,361 (GRCm39) |
Y321N |
probably damaging |
Het |
| Neu3 |
C |
T |
7: 99,462,985 (GRCm39) |
S246N |
probably benign |
Het |
| Npy5r |
C |
T |
8: 67,134,625 (GRCm39) |
G56D |
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 91,395,742 (GRCm39) |
V138A |
possibly damaging |
Het |
| Nuggc |
C |
T |
14: 65,850,921 (GRCm39) |
Q264* |
probably null |
Het |
| Ogfod1 |
G |
A |
8: 94,790,156 (GRCm39) |
|
probably null |
Het |
| Or1o11 |
T |
A |
17: 37,756,757 (GRCm39) |
F115Y |
probably damaging |
Het |
| Or2t45 |
A |
T |
11: 58,669,195 (GRCm39) |
M81L |
probably benign |
Het |
| Or5b101 |
A |
G |
19: 13,005,663 (GRCm39) |
F10S |
probably damaging |
Het |
| Or5p66 |
A |
G |
7: 107,885,478 (GRCm39) |
V285A |
probably benign |
Het |
| Per1 |
T |
A |
11: 68,993,103 (GRCm39) |
I340N |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,451,771 (GRCm39) |
A2175T |
probably benign |
Het |
| Pogk |
A |
G |
1: 166,231,171 (GRCm39) |
V52A |
probably damaging |
Het |
| Pou2af3 |
C |
T |
9: 51,191,834 (GRCm39) |
|
probably benign |
Het |
| Ppib |
A |
T |
9: 65,973,601 (GRCm39) |
T185S |
possibly damaging |
Het |
| Ptar1 |
G |
T |
19: 23,697,563 (GRCm39) |
M358I |
probably damaging |
Het |
| Qser1 |
A |
C |
2: 104,593,226 (GRCm39) |
I1597S |
probably damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,424,896 (GRCm39) |
I487V |
probably benign |
Het |
| Repin1 |
C |
A |
6: 48,574,459 (GRCm39) |
R460S |
probably damaging |
Het |
| Sfmbt1 |
T |
C |
14: 30,509,574 (GRCm39) |
|
probably benign |
Het |
| Sh3rf1 |
C |
T |
8: 61,846,696 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
C |
T |
5: 92,928,762 (GRCm39) |
R106C |
probably damaging |
Het |
| Siglecf |
T |
A |
7: 43,005,399 (GRCm39) |
V453D |
probably damaging |
Het |
| Slc2a9 |
A |
G |
5: 38,610,512 (GRCm39) |
S96P |
probably damaging |
Het |
| Slc5a2 |
A |
G |
7: 127,866,654 (GRCm39) |
Y124C |
probably damaging |
Het |
| Slf1 |
A |
G |
13: 77,254,088 (GRCm39) |
|
probably benign |
Het |
| Smad1 |
T |
G |
8: 80,076,411 (GRCm39) |
K269T |
probably benign |
Het |
| Srp54b |
G |
A |
12: 55,296,884 (GRCm39) |
R194H |
probably damaging |
Het |
| St8sia6 |
T |
A |
2: 13,670,247 (GRCm39) |
S238C |
probably damaging |
Het |
| Stat3 |
A |
T |
11: 100,780,763 (GRCm39) |
|
probably benign |
Het |
| Tafa2 |
A |
T |
10: 123,429,497 (GRCm39) |
H37L |
probably benign |
Het |
| Tas1r2 |
T |
A |
4: 139,382,665 (GRCm39) |
M101K |
possibly damaging |
Het |
| Tesc |
A |
G |
5: 118,191,647 (GRCm39) |
|
probably null |
Het |
| Tle3 |
T |
A |
9: 61,317,353 (GRCm39) |
M334K |
probably damaging |
Het |
| Tmem151a |
A |
T |
19: 5,132,261 (GRCm39) |
V315E |
probably damaging |
Het |
| Tmprss2 |
T |
C |
16: 97,368,245 (GRCm39) |
D480G |
probably damaging |
Het |
| Trmt1 |
C |
A |
8: 85,423,741 (GRCm39) |
|
probably null |
Het |
| Tsr3 |
T |
C |
17: 25,461,198 (GRCm39) |
|
probably null |
Het |
| Ube2u |
A |
G |
4: 100,338,845 (GRCm39) |
K37E |
probably benign |
Het |
| Usp16 |
T |
A |
16: 87,272,334 (GRCm39) |
D382E |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,340,053 (GRCm39) |
F1442Y |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,654,457 (GRCm39) |
M210K |
probably damaging |
Het |
| Utp25 |
T |
C |
1: 192,805,984 (GRCm39) |
E187G |
possibly damaging |
Het |
| V1ra8 |
C |
T |
6: 90,179,991 (GRCm39) |
L65F |
possibly damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,149,859 (GRCm39) |
N395S |
probably damaging |
Het |
| Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
| Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
| Zfp330 |
G |
A |
8: 83,491,511 (GRCm39) |
Q221* |
probably null |
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 |
|
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 |
|
R1861:Clasp1
|
UTSW |
1 |
118,498,661 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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'- CAAGCCCTGTCGGGAACATAATGTC -3'
(R):5'- CAGCCCTACTCACACACTTTGGAAG -3'
Sequencing Primer
(F):5'- GCCCAAGTTGTGACCCATTAG -3'
(R):5'- cTACTCACACACTTTGGAAGAAGAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation