Incidental Mutation 'R5821:Clasp1'
ID |
449911 |
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 |
043401-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.953)
|
Stock # |
R5821 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
118314976-118537192 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 118518214 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 1087
(F1087I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142203
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049404]
[ENSMUST00000070989]
[ENSMUST00000165223]
[ENSMUST00000178710]
[ENSMUST00000185405]
[ENSMUST00000186349]
[ENSMUST00000187713]
[ENSMUST00000190571]
[ENSMUST00000188710]
[ENSMUST00000189262]
[ENSMUST00000191823]
[ENSMUST00000191445]
[ENSMUST00000189738]
[ENSMUST00000189570]
[ENSMUST00000204325]
[ENSMUST00000190733]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049404
AA Change: F1379I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042266 Gene: ENSMUSG00000064302 AA Change: F1379I
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 damaging
Transcript: ENSMUST00000070989
AA Change: F1369I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000067858 Gene: ENSMUSG00000064302 AA Change: F1369I
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 |
probably damaging
Transcript: ENSMUST00000165223
AA Change: F1295I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128089 Gene: ENSMUSG00000064302 AA Change: F1295I
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 |
probably damaging
Transcript: ENSMUST00000178710
AA Change: F1302I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137137 Gene: ENSMUSG00000064302 AA Change: F1302I
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 damaging
Transcript: ENSMUST00000185405
AA Change: F1335I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139619 Gene: ENSMUSG00000064302 AA Change: F1335I
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 damaging
Transcript: ENSMUST00000186349
AA Change: F1379I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141105 Gene: ENSMUSG00000064302 AA Change: F1379I
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 damaging
Transcript: ENSMUST00000187713
AA Change: F1318I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139526 Gene: ENSMUSG00000064302 AA Change: F1318I
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 |
probably damaging
Transcript: ENSMUST00000190571
AA Change: F1395I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140019 Gene: ENSMUSG00000064302 AA Change: F1395I
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 |
probably damaging
Transcript: ENSMUST00000188710
AA Change: F1369I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140593 Gene: ENSMUSG00000064302 AA Change: F1369I
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 damaging
Transcript: ENSMUST00000189262
AA Change: F1303I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140860 Gene: ENSMUSG00000064302 AA Change: F1303I
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 damaging
Transcript: ENSMUST00000191823
AA Change: F1087I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142203 Gene: ENSMUSG00000064302 AA Change: F1087I
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 damaging
Transcript: ENSMUST00000191445
AA Change: F1312I
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000140095 Gene: ENSMUSG00000064302 AA Change: F1312I
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 damaging
Transcript: ENSMUST00000189738
AA Change: F1320I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140665 Gene: ENSMUSG00000064302 AA Change: F1320I
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 |
probably damaging
Transcript: ENSMUST00000189570
AA Change: F1311I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140167 Gene: ENSMUSG00000064302 AA Change: F1311I
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: ENSMUST00000204325
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203646
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190733
|
Meta Mutation Damage Score |
0.2914 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
Validation Efficiency |
100% (55/55) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
A |
T |
2: 30,686,458 (GRCm39) |
V278D |
possibly damaging |
Het |
Acacb |
A |
G |
5: 114,322,167 (GRCm39) |
D227G |
possibly damaging |
Het |
Akap9 |
A |
G |
5: 4,096,064 (GRCm39) |
E2313G |
probably benign |
Het |
Cchcr1 |
A |
T |
17: 35,839,745 (GRCm39) |
E564D |
probably damaging |
Het |
Cers2 |
G |
A |
3: 95,229,008 (GRCm39) |
|
probably benign |
Het |
Cfap161 |
A |
G |
7: 83,425,188 (GRCm39) |
I301T |
probably benign |
Het |
Ciita |
A |
T |
16: 10,329,669 (GRCm39) |
E648V |
possibly damaging |
Het |
Cir1 |
C |
T |
2: 73,142,804 (GRCm39) |
C10Y |
probably damaging |
Het |
Cped1 |
C |
A |
6: 22,138,681 (GRCm39) |
F415L |
probably benign |
Het |
Dnah7b |
A |
G |
1: 46,181,292 (GRCm39) |
T1060A |
possibly damaging |
Het |
Epha5 |
G |
T |
5: 84,232,587 (GRCm39) |
P809H |
probably damaging |
Het |
Fuca1 |
T |
A |
4: 135,650,273 (GRCm39) |
|
probably null |
Het |
Galnt2l |
A |
T |
8: 123,627,372 (GRCm39) |
*98R |
probably null |
Het |
Gm26796 |
G |
A |
12: 80,805,564 (GRCm39) |
R237C |
unknown |
Het |
Idua |
A |
G |
5: 108,827,600 (GRCm39) |
Y138C |
probably benign |
Het |
Ighd |
A |
T |
12: 113,373,253 (GRCm39) |
L240H |
probably benign |
Het |
Ing2 |
C |
G |
8: 48,121,861 (GRCm39) |
C229S |
probably benign |
Het |
Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
Kctd8 |
A |
T |
5: 69,267,828 (GRCm39) |
N427K |
probably benign |
Het |
Kif16b |
T |
C |
2: 142,544,586 (GRCm39) |
E1147G |
probably damaging |
Het |
Kif18a |
G |
A |
2: 109,120,190 (GRCm39) |
|
probably benign |
Het |
Krt82 |
T |
A |
15: 101,456,820 (GRCm39) |
R187* |
probably null |
Het |
Lrrk2 |
T |
C |
15: 91,593,593 (GRCm39) |
|
probably null |
Het |
M1ap |
T |
C |
6: 82,945,083 (GRCm39) |
Y126H |
probably benign |
Het |
Mmel1 |
A |
G |
4: 154,970,044 (GRCm39) |
N226D |
possibly damaging |
Het |
Mtmr11 |
A |
G |
3: 96,075,185 (GRCm39) |
D353G |
possibly damaging |
Het |
Nfkbia |
A |
T |
12: 55,538,005 (GRCm39) |
H149Q |
probably damaging |
Het |
Nr5a1 |
A |
T |
2: 38,598,511 (GRCm39) |
F95L |
probably damaging |
Het |
Nutm2 |
A |
G |
13: 50,623,891 (GRCm39) |
Y196C |
probably benign |
Het |
Oxtr |
A |
G |
6: 112,466,457 (GRCm39) |
I101T |
probably damaging |
Het |
Pcsk2 |
T |
A |
2: 143,591,035 (GRCm39) |
|
probably null |
Het |
Pde5a |
T |
C |
3: 122,611,604 (GRCm39) |
I514T |
probably benign |
Het |
Pign |
A |
G |
1: 105,516,788 (GRCm39) |
W585R |
possibly damaging |
Het |
Pomgnt1 |
A |
G |
4: 116,012,933 (GRCm39) |
S407G |
probably benign |
Het |
Ppfia3 |
G |
A |
7: 45,003,040 (GRCm39) |
T372I |
probably damaging |
Het |
Prrc2b |
A |
T |
2: 32,102,144 (GRCm39) |
E739V |
probably damaging |
Het |
Ro60 |
A |
G |
1: 143,642,503 (GRCm39) |
V209A |
probably benign |
Het |
Scn7a |
T |
C |
2: 66,574,047 (GRCm39) |
E192G |
probably damaging |
Het |
Slmap |
T |
C |
14: 26,183,435 (GRCm39) |
D316G |
probably damaging |
Het |
Smim8 |
GGTTTAATGAAGAG |
GG |
4: 34,771,259 (GRCm39) |
|
probably benign |
Het |
Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
Tgm2 |
T |
A |
2: 157,984,974 (GRCm39) |
Y44F |
possibly damaging |
Het |
Tmc8 |
C |
A |
11: 117,683,455 (GRCm39) |
S670* |
probably null |
Het |
Tmem145 |
A |
G |
7: 25,014,946 (GRCm39) |
D523G |
probably benign |
Het |
Vmn2r115 |
G |
A |
17: 23,566,937 (GRCm39) |
G483E |
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 |
|
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 |
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'- CCTGCTCTCTTGGAGTTGAC -3'
(R):5'- GGTTTCTCAGCTCTAATGTCAGC -3'
Sequencing Primer
(F):5'- AGTTGACTGTCCAGCAAGC -3'
(R):5'- CTCAGCTCTAATGTCAGCAGTAGG -3'
|
Posted On |
2016-12-20 |