Incidental Mutation 'R1942:Clasp1'
| ID |
216260 |
| 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 |
039960-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R1942 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
118314976-118537192 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118429078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 329
(E329G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049404]
[ENSMUST00000070989]
[ENSMUST00000165223]
[ENSMUST00000178710]
[ENSMUST00000185405]
[ENSMUST00000186349]
[ENSMUST00000187713]
[ENSMUST00000190571]
[ENSMUST00000191445]
[ENSMUST00000189262]
[ENSMUST00000189738]
[ENSMUST00000188710]
[ENSMUST00000189570]
[ENSMUST00000191823]
[ENSMUST00000190733]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049404
AA Change: E329G
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000042266
Gene: ENSMUSG00000064302
AA Change: E329G
| 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: E329G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000067858
Gene: ENSMUSG00000064302
AA Change: E329G
| 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: E329G
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128089
Gene: ENSMUSG00000064302
AA Change: E329G
| 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: E329G
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000137137
Gene: ENSMUSG00000064302
AA Change: E329G
| 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: E329G
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139619
Gene: ENSMUSG00000064302
AA Change: E329G
| 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: E329G
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141105
Gene: ENSMUSG00000064302
AA Change: E329G
| 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: E329G
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139526
Gene: ENSMUSG00000064302
AA Change: E329G
| 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: E329G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140019
Gene: ENSMUSG00000064302
AA Change: E329G
| 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: ENSMUST00000191445
AA Change: E329G
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140095
Gene: ENSMUSG00000064302
AA Change: E329G
| 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 |
possibly damaging
Transcript: ENSMUST00000189262
AA Change: E329G
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140860
Gene: ENSMUSG00000064302
AA Change: E329G
| 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: ENSMUST00000189738
AA Change: E329G
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140665
Gene: ENSMUSG00000064302
AA Change: E329G
| 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: E329G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140593
Gene: ENSMUSG00000064302
AA Change: E329G
| 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: ENSMUST00000189570
AA Change: E329G
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140167
Gene: ENSMUSG00000064302
AA Change: E329G
| 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: ENSMUST00000191823
AA Change: E97G
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142203
Gene: ENSMUSG00000064302
AA Change: E97G
| 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 |
noncoding transcript
Transcript: ENSMUST00000203009
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204552
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203646
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190135
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204886
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189676
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190733
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000204904
AA Change: E114G
|
| Meta Mutation Damage Score |
0.4507 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
| Validation Efficiency |
100% (75/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
T |
15: 81,949,625 (GRCm39) |
Y1174F |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,992,447 (GRCm39) |
E4577G |
probably damaging |
Het |
| Anapc4 |
T |
C |
5: 53,004,056 (GRCm39) |
V291A |
probably benign |
Het |
| Apba2 |
A |
G |
7: 64,345,218 (GRCm39) |
E136G |
possibly damaging |
Het |
| Arhgap20 |
C |
A |
9: 51,742,998 (GRCm39) |
Q279K |
probably benign |
Het |
| B3galnt1 |
A |
T |
3: 69,483,258 (GRCm39) |
M1K |
probably null |
Het |
| C4bp |
C |
A |
1: 130,583,804 (GRCm39) |
|
probably benign |
Het |
| Catsperg1 |
G |
A |
7: 28,906,232 (GRCm39) |
T157I |
possibly damaging |
Het |
| Cfap90 |
A |
C |
13: 68,761,090 (GRCm39) |
I171L |
probably benign |
Het |
| Chrm1 |
T |
A |
19: 8,655,637 (GRCm39) |
M114K |
probably damaging |
Het |
| Clrn2 |
A |
C |
5: 45,611,337 (GRCm39) |
Y62S |
probably benign |
Het |
| Col12a1 |
T |
G |
9: 79,542,748 (GRCm39) |
D2339A |
probably damaging |
Het |
| Copa |
T |
A |
1: 171,939,455 (GRCm39) |
L564Q |
probably damaging |
Het |
| Cpeb2 |
C |
A |
5: 43,392,596 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
A |
T |
17: 80,572,573 (GRCm39) |
M647K |
probably damaging |
Het |
| Diaph3 |
C |
T |
14: 87,378,556 (GRCm39) |
|
probably benign |
Het |
| Eomes |
A |
G |
9: 118,313,716 (GRCm39) |
D587G |
probably benign |
Het |
| Gm5142 |
T |
A |
14: 59,416,156 (GRCm39) |
M1L |
probably benign |
Het |
| Gnl2 |
A |
G |
4: 124,923,957 (GRCm39) |
I12V |
probably benign |
Het |
| Gprin1 |
C |
T |
13: 54,887,752 (GRCm39) |
C174Y |
probably benign |
Het |
| Grin2b |
A |
T |
6: 135,709,730 (GRCm39) |
V1272E |
possibly damaging |
Het |
| Hdac9 |
A |
G |
12: 34,479,544 (GRCm39) |
L227S |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,493,318 (GRCm39) |
L247Q |
probably benign |
Het |
| Hs6st1 |
T |
C |
1: 36,107,803 (GRCm39) |
V22A |
probably benign |
Het |
| Hspg2 |
C |
A |
4: 137,269,863 (GRCm39) |
A2304E |
possibly damaging |
Het |
| Htr3a |
T |
C |
9: 48,819,911 (GRCm39) |
Y73C |
probably damaging |
Het |
| Il1rap |
A |
C |
16: 26,541,205 (GRCm39) |
E482A |
probably damaging |
Het |
| Itsn2 |
T |
A |
12: 4,689,670 (GRCm39) |
L581* |
probably null |
Het |
| Msmb |
A |
G |
14: 31,870,034 (GRCm39) |
E2G |
probably benign |
Het |
| Muc19 |
T |
C |
15: 91,776,666 (GRCm39) |
|
noncoding transcript |
Het |
| Muc4 |
A |
C |
16: 32,569,460 (GRCm39) |
L173F |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,411,421 (GRCm39) |
S1456C |
unknown |
Het |
| Mylip |
A |
T |
13: 45,560,172 (GRCm39) |
I203F |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,952,039 (GRCm39) |
D1504E |
probably damaging |
Het |
| Neil1 |
C |
G |
9: 57,053,891 (GRCm39) |
R143P |
probably benign |
Het |
| Nlrp2 |
T |
A |
7: 5,325,447 (GRCm39) |
T742S |
probably damaging |
Het |
| Nme8 |
A |
G |
13: 19,859,978 (GRCm39) |
V214A |
probably damaging |
Het |
| Nsun7 |
C |
T |
5: 66,441,588 (GRCm39) |
T419I |
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,058,544 (GRCm39) |
E648K |
probably benign |
Het |
| Or10g6 |
T |
A |
9: 39,934,031 (GRCm39) |
L114H |
probably damaging |
Het |
| Or10g6 |
T |
C |
9: 39,934,048 (GRCm39) |
Y120H |
probably damaging |
Het |
| Or2y1c |
T |
C |
11: 49,360,981 (GRCm39) |
M1T |
probably null |
Het |
| Or8s2 |
A |
G |
15: 98,276,445 (GRCm39) |
L182P |
probably damaging |
Het |
| Parp11 |
A |
C |
6: 127,447,663 (GRCm39) |
|
probably null |
Het |
| Pomgnt1 |
G |
T |
4: 116,012,472 (GRCm39) |
|
probably null |
Het |
| Ppp1r14c |
T |
C |
10: 3,413,417 (GRCm39) |
I150T |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,295,805 (GRCm39) |
E908G |
probably damaging |
Het |
| Psmd6 |
A |
T |
14: 14,116,442 (GRCm38) |
V91E |
probably damaging |
Het |
| Ptk2b |
A |
T |
14: 66,406,830 (GRCm39) |
V634D |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,548,089 (GRCm39) |
I753V |
possibly damaging |
Het |
| Rbm45 |
G |
A |
2: 76,205,823 (GRCm39) |
|
probably null |
Het |
| Ric1 |
A |
G |
19: 29,578,416 (GRCm39) |
|
probably benign |
Het |
| Sh3rf2 |
A |
G |
18: 42,282,689 (GRCm39) |
K416E |
probably damaging |
Het |
| Six5 |
C |
T |
7: 18,830,858 (GRCm39) |
A495V |
possibly damaging |
Het |
| Slc27a6 |
T |
A |
18: 58,689,870 (GRCm39) |
M112K |
probably damaging |
Het |
| Slc5a4a |
T |
C |
10: 75,983,422 (GRCm39) |
S20P |
unknown |
Het |
| Smg1 |
A |
G |
7: 117,757,326 (GRCm39) |
|
probably benign |
Het |
| Sntb2 |
G |
A |
8: 107,737,984 (GRCm39) |
A511T |
probably damaging |
Het |
| Stk31 |
A |
T |
6: 49,416,061 (GRCm39) |
N622I |
probably damaging |
Het |
| Sulf1 |
T |
C |
1: 12,918,397 (GRCm39) |
F38S |
probably damaging |
Het |
| Szt2 |
G |
T |
4: 118,249,817 (GRCm39) |
T521K |
probably benign |
Het |
| Terf1 |
G |
T |
1: 15,876,038 (GRCm39) |
R46I |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,923,511 (GRCm39) |
|
probably benign |
Het |
| Tmigd1 |
T |
C |
11: 76,804,905 (GRCm39) |
|
probably null |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Umod |
A |
G |
7: 119,076,155 (GRCm39) |
Y204H |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,851,543 (GRCm39) |
Q1139L |
probably benign |
Het |
| Vmn1r85 |
T |
A |
7: 12,818,668 (GRCm39) |
T159S |
possibly damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,032,562 (GRCm39) |
S779T |
probably benign |
Het |
| Vmn2r27 |
C |
T |
6: 124,200,722 (GRCm39) |
A412T |
probably damaging |
Het |
| Zc3h12d |
A |
C |
10: 7,729,077 (GRCm39) |
D147A |
probably damaging |
Het |
| Zfp800 |
A |
T |
6: 28,243,272 (GRCm39) |
D564E |
probably benign |
Het |
| Zfp932 |
A |
G |
5: 110,154,853 (GRCm39) |
E17G |
probably damaging |
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 |
|
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 |
|
|
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'- GCTTCCAAGTGGCAGCAAAG -3'
(R):5'- TTCACTGTGAACAACAAAGAAAGTG -3'
Sequencing Primer
(F):5'- GGCTATCAGGCCCACTAAGATG -3'
(R):5'- ACAACAAAGAAAGTGAAGCAATTTAC -3'
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| Posted On |
2014-08-01 |
Incidental Mutation