Incidental Mutation 'IGL02728:Clasp1'
ID |
305339 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Clasp1
|
Ensembl Gene |
ENSMUSG00000064302 |
Gene Name |
CLIP associating protein 1 |
Synonyms |
CLASP1alpha, 1700030C23Rik, 5730583A19Rik, CLASP1, B130045P17Rik, mCLASP1 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.948)
|
Stock # |
IGL02728
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
118314976-118537192 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 118530107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 1490
(T1490S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140019
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049404]
[ENSMUST00000070989]
[ENSMUST00000165223]
[ENSMUST00000178710]
[ENSMUST00000185405]
[ENSMUST00000186349]
[ENSMUST00000188710]
[ENSMUST00000190571]
[ENSMUST00000187713]
[ENSMUST00000189262]
[ENSMUST00000189570]
[ENSMUST00000191823]
[ENSMUST00000189738]
[ENSMUST00000191445]
[ENSMUST00000204325]
[ENSMUST00000190733]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049404
AA Change: T1474S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000042266 Gene: ENSMUSG00000064302 AA Change: T1474S
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: T1464S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000067858 Gene: ENSMUSG00000064302 AA Change: T1464S
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: T1390S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128089 Gene: ENSMUSG00000064302 AA Change: T1390S
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: T1397S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000137137 Gene: ENSMUSG00000064302 AA Change: T1397S
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: T1430S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139619 Gene: ENSMUSG00000064302 AA Change: T1430S
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: T1474S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141105 Gene: ENSMUSG00000064302 AA Change: T1474S
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 |
noncoding transcript
Transcript: ENSMUST00000187575
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000188710
AA Change: T1464S
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140593 Gene: ENSMUSG00000064302 AA Change: T1464S
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: ENSMUST00000190571
AA Change: T1490S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140019 Gene: ENSMUSG00000064302 AA Change: T1490S
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: ENSMUST00000187713
AA Change: T1413S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139526 Gene: ENSMUSG00000064302 AA Change: T1413S
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: ENSMUST00000189262
AA Change: T1398S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140860 Gene: ENSMUSG00000064302 AA Change: T1398S
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: ENSMUST00000189570
AA Change: T1406S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140167 Gene: ENSMUSG00000064302 AA Change: T1406S
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 damaging
Transcript: ENSMUST00000191823
AA Change: T1182S
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142203 Gene: ENSMUSG00000064302 AA Change: T1182S
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: ENSMUST00000189738
AA Change: T1415S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140665 Gene: ENSMUSG00000064302 AA Change: T1415S
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 benign
Transcript: ENSMUST00000191445
AA Change: T1407S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000140095 Gene: ENSMUSG00000064302 AA Change: T1407S
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: ENSMUST00000204325
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203646
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190733
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
G |
T |
9: 90,073,880 (GRCm39) |
|
probably benign |
Het |
Als2 |
A |
G |
1: 59,235,506 (GRCm39) |
V726A |
probably benign |
Het |
Apba1 |
G |
A |
19: 23,922,269 (GRCm39) |
G779E |
possibly damaging |
Het |
Atr |
T |
A |
9: 95,818,528 (GRCm39) |
V2167E |
probably damaging |
Het |
Bod1l |
T |
C |
5: 41,983,846 (GRCm39) |
K566E |
probably damaging |
Het |
Btd |
T |
C |
14: 31,389,319 (GRCm39) |
F347L |
probably benign |
Het |
Btg2 |
T |
C |
1: 134,006,643 (GRCm39) |
|
probably benign |
Het |
Cblb |
T |
A |
16: 52,003,672 (GRCm39) |
S717T |
probably benign |
Het |
Cep250 |
T |
A |
2: 155,825,198 (GRCm39) |
|
probably benign |
Het |
Cep350 |
T |
C |
1: 155,828,968 (GRCm39) |
N312S |
probably benign |
Het |
Col7a1 |
T |
A |
9: 108,813,172 (GRCm39) |
C2906S |
probably benign |
Het |
Csmd1 |
C |
T |
8: 16,049,779 (GRCm39) |
|
probably null |
Het |
Cspg4 |
T |
A |
9: 56,793,765 (GRCm39) |
V500E |
probably damaging |
Het |
Cyp7b1 |
T |
A |
3: 18,126,739 (GRCm39) |
D469V |
probably damaging |
Het |
Dhh |
A |
T |
15: 98,792,192 (GRCm39) |
|
probably null |
Het |
Dhrs3 |
A |
G |
4: 144,646,642 (GRCm39) |
R231G |
probably damaging |
Het |
Disp3 |
A |
G |
4: 148,356,495 (GRCm39) |
S122P |
probably damaging |
Het |
Dnah1 |
T |
C |
14: 31,005,955 (GRCm39) |
I2275V |
probably benign |
Het |
Dock8 |
A |
C |
19: 25,109,584 (GRCm39) |
N922T |
probably benign |
Het |
Eef1d |
A |
G |
15: 75,774,945 (GRCm39) |
L154P |
probably damaging |
Het |
Eif4ebp1 |
C |
A |
8: 27,763,510 (GRCm39) |
P101Q |
possibly damaging |
Het |
Eif4g1 |
T |
G |
16: 20,505,502 (GRCm39) |
|
probably benign |
Het |
Emb |
A |
G |
13: 117,369,301 (GRCm39) |
M50V |
probably benign |
Het |
Eml4 |
T |
C |
17: 83,780,568 (GRCm39) |
|
probably null |
Het |
Fkbp10 |
G |
T |
11: 100,306,803 (GRCm39) |
R65L |
probably damaging |
Het |
Gm5878 |
T |
C |
6: 85,095,574 (GRCm39) |
N83S |
probably benign |
Het |
Gm8165 |
C |
T |
14: 43,913,694 (GRCm39) |
A57T |
unknown |
Het |
Gpr179 |
A |
G |
11: 97,228,726 (GRCm39) |
V1143A |
probably damaging |
Het |
Hat1 |
T |
C |
2: 71,251,604 (GRCm39) |
Y218H |
probably damaging |
Het |
Hfm1 |
T |
A |
5: 107,026,689 (GRCm39) |
N885I |
probably benign |
Het |
Ift70a1 |
T |
A |
2: 75,811,193 (GRCm39) |
M297L |
probably benign |
Het |
Inha |
T |
C |
1: 75,486,091 (GRCm39) |
S129P |
probably damaging |
Het |
Ints9 |
T |
C |
14: 65,230,457 (GRCm39) |
I128T |
probably damaging |
Het |
Klra9 |
T |
C |
6: 130,168,149 (GRCm39) |
|
probably null |
Het |
Lrba |
A |
G |
3: 86,683,356 (GRCm39) |
E2726G |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,691,410 (GRCm39) |
N3356D |
probably benign |
Het |
Map3k5 |
A |
G |
10: 19,994,038 (GRCm39) |
D1008G |
possibly damaging |
Het |
Med4 |
T |
A |
14: 73,755,415 (GRCm39) |
L241Q |
possibly damaging |
Het |
Mtch1 |
A |
G |
17: 29,557,716 (GRCm39) |
V254A |
possibly damaging |
Het |
Napg |
C |
T |
18: 63,127,375 (GRCm39) |
|
probably benign |
Het |
Or1j11 |
T |
C |
2: 36,312,156 (GRCm39) |
S249P |
possibly damaging |
Het |
Or5k1 |
C |
T |
16: 58,617,843 (GRCm39) |
R122H |
probably benign |
Het |
Or7g33 |
A |
G |
9: 19,449,142 (GRCm39) |
F28S |
possibly damaging |
Het |
Or8d2 |
T |
C |
9: 38,760,222 (GRCm39) |
S271P |
probably damaging |
Het |
Or9r3 |
T |
A |
10: 129,948,487 (GRCm39) |
R57S |
probably damaging |
Het |
Pias1 |
T |
A |
9: 62,830,926 (GRCm39) |
S161C |
probably damaging |
Het |
Pias1 |
G |
T |
9: 62,830,927 (GRCm39) |
N160K |
possibly damaging |
Het |
Pigp |
G |
A |
16: 94,168,466 (GRCm39) |
P37S |
probably damaging |
Het |
Pik3c2b |
T |
A |
1: 133,020,065 (GRCm39) |
V1070E |
probably benign |
Het |
Pramel51 |
G |
T |
12: 88,142,792 (GRCm39) |
H275Q |
probably benign |
Het |
Prepl |
T |
C |
17: 85,378,010 (GRCm39) |
T457A |
probably damaging |
Het |
Psg23 |
G |
A |
7: 18,340,853 (GRCm39) |
A467V |
probably benign |
Het |
Rad54l |
T |
C |
4: 115,980,146 (GRCm39) |
R13G |
probably benign |
Het |
Rassf5 |
T |
C |
1: 131,108,336 (GRCm39) |
D248G |
probably damaging |
Het |
Rspo1 |
A |
G |
4: 124,898,955 (GRCm39) |
N92S |
probably damaging |
Het |
Scube1 |
G |
A |
15: 83,543,217 (GRCm39) |
|
probably benign |
Het |
Sec31b |
C |
A |
19: 44,511,554 (GRCm39) |
V616F |
probably damaging |
Het |
Sema3a |
T |
C |
5: 13,615,881 (GRCm39) |
V435A |
probably damaging |
Het |
Slc7a10 |
T |
A |
7: 34,897,123 (GRCm39) |
I208N |
probably damaging |
Het |
Stab2 |
A |
T |
10: 86,692,420 (GRCm39) |
M2151K |
possibly damaging |
Het |
Tacc1 |
T |
C |
8: 25,665,235 (GRCm39) |
D50G |
probably damaging |
Het |
Tas2r121 |
G |
T |
6: 132,677,480 (GRCm39) |
T164N |
probably damaging |
Het |
Tatdn2 |
T |
C |
6: 113,681,676 (GRCm39) |
W570R |
probably damaging |
Het |
Telo2 |
A |
T |
17: 25,323,628 (GRCm39) |
F600I |
probably damaging |
Het |
Trim36 |
T |
A |
18: 46,305,669 (GRCm39) |
H426L |
probably benign |
Het |
Trpm6 |
A |
T |
19: 18,787,016 (GRCm39) |
N531Y |
possibly damaging |
Het |
Ttc39a |
T |
C |
4: 109,299,920 (GRCm39) |
C470R |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,615,283 (GRCm39) |
E8485K |
probably damaging |
Het |
Ubr4 |
A |
T |
4: 139,196,122 (GRCm39) |
I1253F |
probably damaging |
Het |
Unc79 |
A |
T |
12: 103,088,688 (GRCm39) |
H1724L |
possibly damaging |
Het |
Vmn1r40 |
T |
A |
6: 89,691,998 (GRCm39) |
C89S |
probably benign |
Het |
Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |