Incidental Mutation 'R7216:Clasp1'
| ID |
561432 |
| 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 |
045288-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R7216 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
118314976-118537192 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118475648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 944
(D944E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140019
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049404]
[ENSMUST00000070989]
[ENSMUST00000165223]
[ENSMUST00000178710]
[ENSMUST00000185405]
[ENSMUST00000186349]
[ENSMUST00000187713]
[ENSMUST00000190571]
[ENSMUST00000188710]
[ENSMUST00000189262]
[ENSMUST00000189570]
[ENSMUST00000189738]
[ENSMUST00000190733]
[ENSMUST00000191445]
[ENSMUST00000191823]
[ENSMUST00000204325]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049404
AA Change: D928E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000042266
Gene: ENSMUSG00000064302
AA Change: D928E
| 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: D957E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000067858
Gene: ENSMUSG00000064302
AA Change: D957E
| 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 benign
Transcript: ENSMUST00000165223
AA Change: D883E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128089
Gene: ENSMUSG00000064302
AA Change: D883E
| 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 benign
Transcript: ENSMUST00000178710
AA Change: D890E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000137137
Gene: ENSMUSG00000064302
AA Change: D890E
| 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: D923E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000139619
Gene: ENSMUSG00000064302
AA Change: D923E
| 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: D928E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000141105
Gene: ENSMUSG00000064302
AA Change: D928E
| 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: D906E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000139526
Gene: ENSMUSG00000064302
AA Change: D906E
| 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 benign
Transcript: ENSMUST00000190571
AA Change: D944E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140019
Gene: ENSMUSG00000064302
AA Change: D944E
| 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 benign
Transcript: ENSMUST00000188710
AA Change: D957E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140593
Gene: ENSMUSG00000064302
AA Change: D957E
| 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: D891E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140860
Gene: ENSMUSG00000064302
AA Change: D891E
| 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: ENSMUST00000189570
AA Change: D899E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140167
Gene: ENSMUSG00000064302
AA Change: D899E
| 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: ENSMUST00000189738
AA Change: D908E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140665
Gene: ENSMUSG00000064302
AA Change: D908E
| 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: ENSMUST00000190733
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191445
AA Change: D900E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140095
Gene: ENSMUSG00000064302
AA Change: D900E
| 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: ENSMUST00000191823
AA Change: D675E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000142203
Gene: ENSMUSG00000064302
AA Change: D675E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
64 |
N/A |
INTRINSIC |
|
TOG
|
87 |
319 |
5.6e-16 |
SMART |
|
low complexity region
|
347 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
401 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
483 |
N/A |
INTRINSIC |
|
low complexity region
|
537 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
568 |
578 |
N/A |
INTRINSIC |
|
TOG
|
594 |
832 |
1.6e-5 |
SMART |
|
low complexity region
|
843 |
860 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
944 |
N/A |
INTRINSIC |
|
TOG
|
995 |
1233 |
2.4e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192387
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204325
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205176
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
T |
A |
12: 53,187,240 (GRCm39) |
N1551K |
probably benign |
Het |
| Amy2a1 |
T |
C |
3: 113,324,090 (GRCm39) |
D150G |
possibly damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,822,839 (GRCm39) |
C165S |
probably benign |
Het |
| Atp2c1 |
A |
T |
9: 105,344,930 (GRCm39) |
D102E |
probably benign |
Het |
| Capn8 |
C |
A |
1: 182,426,363 (GRCm39) |
R233S |
possibly damaging |
Het |
| Cd48 |
T |
C |
1: 171,523,390 (GRCm39) |
S78P |
probably damaging |
Het |
| Clip2 |
A |
G |
5: 134,531,771 (GRCm39) |
M678T |
probably benign |
Het |
| Clmp |
T |
C |
9: 40,672,205 (GRCm39) |
Y12H |
possibly damaging |
Het |
| Col22a1 |
A |
T |
15: 71,845,694 (GRCm39) |
V356D |
probably damaging |
Het |
| Copg2 |
A |
T |
6: 30,862,535 (GRCm39) |
D101E |
probably damaging |
Het |
| Cpsf6 |
G |
A |
10: 117,197,928 (GRCm39) |
P229S |
unknown |
Het |
| Dgke |
T |
C |
11: 88,941,163 (GRCm39) |
D340G |
probably benign |
Het |
| Dlg1 |
TAAA |
TAA |
16: 31,615,736 (GRCm39) |
|
probably null |
Het |
| Dlg5 |
G |
A |
14: 24,186,706 (GRCm39) |
Q1865* |
probably null |
Het |
| Dnajc2 |
C |
T |
5: 21,981,777 (GRCm39) |
R123Q |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,771,375 (GRCm39) |
K2633N |
possibly damaging |
Het |
| Egln2 |
T |
C |
7: 26,859,254 (GRCm39) |
D365G |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,421,621 (GRCm39) |
D287G |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,945,192 (GRCm39) |
T1362A |
probably damaging |
Het |
| Flt4 |
A |
G |
11: 49,525,508 (GRCm39) |
T685A |
possibly damaging |
Het |
| Fras1 |
T |
C |
5: 96,887,173 (GRCm39) |
Y2652H |
probably damaging |
Het |
| Gas2 |
A |
G |
7: 51,547,005 (GRCm39) |
E52G |
possibly damaging |
Het |
| Gm5093 |
A |
T |
17: 46,751,014 (GRCm39) |
D4E |
not run |
Het |
| Gm6370 |
A |
T |
5: 146,430,723 (GRCm39) |
T303S |
probably benign |
Het |
| Gpr161 |
A |
G |
1: 165,134,115 (GRCm39) |
I126V |
probably benign |
Het |
| Gpr63 |
T |
C |
4: 25,008,038 (GRCm39) |
L254P |
probably damaging |
Het |
| H2-M9 |
C |
T |
17: 36,951,594 (GRCm39) |
V294I |
probably benign |
Het |
| Insr |
T |
A |
8: 3,253,034 (GRCm39) |
N375I |
possibly damaging |
Het |
| Ints1 |
T |
C |
5: 139,754,739 (GRCm39) |
N600S |
possibly damaging |
Het |
| Ints10 |
A |
G |
8: 69,274,809 (GRCm39) |
N628S |
probably damaging |
Het |
| Irf2 |
A |
G |
8: 47,246,591 (GRCm39) |
T20A |
probably benign |
Het |
| Irs1 |
T |
A |
1: 82,267,476 (GRCm39) |
T247S |
probably damaging |
Het |
| Islr |
C |
T |
9: 58,064,250 (GRCm39) |
S419N |
unknown |
Het |
| Kcna2 |
T |
A |
3: 107,012,109 (GRCm39) |
I230N |
probably damaging |
Het |
| Kif3c |
C |
A |
12: 3,416,126 (GRCm39) |
A49E |
probably benign |
Het |
| Kifap3 |
A |
T |
1: 163,623,558 (GRCm39) |
K108N |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,563,057 (GRCm39) |
F527I |
probably damaging |
Het |
| Layn |
A |
G |
9: 50,988,352 (GRCm39) |
|
probably benign |
Het |
| Lims2 |
G |
T |
18: 32,090,315 (GRCm39) |
W276L |
probably damaging |
Het |
| Lsp1 |
T |
C |
7: 142,042,179 (GRCm39) |
L133S |
probably damaging |
Het |
| Map3k6 |
T |
G |
4: 132,974,211 (GRCm39) |
V536G |
probably damaging |
Het |
| Med7 |
T |
A |
11: 46,331,681 (GRCm39) |
L92H |
probably damaging |
Het |
| Mllt1 |
A |
G |
17: 57,234,042 (GRCm39) |
V48A |
probably damaging |
Het |
| Mtcl2 |
T |
C |
2: 156,860,290 (GRCm39) |
R1650G |
possibly damaging |
Het |
| Neurl4 |
T |
A |
11: 69,801,088 (GRCm39) |
V1153E |
probably damaging |
Het |
| Nkx2-1 |
A |
C |
12: 56,581,587 (GRCm39) |
C87G |
probably damaging |
Het |
| Nsun7 |
T |
C |
5: 66,436,000 (GRCm39) |
S291P |
probably damaging |
Het |
| Or10n1 |
A |
T |
9: 39,525,790 (GRCm39) |
Q309L |
probably benign |
Het |
| Or13a18 |
A |
T |
7: 140,190,373 (GRCm39) |
N90I |
possibly damaging |
Het |
| Or1p1c |
A |
T |
11: 74,160,550 (GRCm39) |
I112F |
probably damaging |
Het |
| Or4e1 |
G |
A |
14: 52,700,945 (GRCm39) |
P174S |
probably damaging |
Het |
| Or7g17 |
T |
A |
9: 18,768,632 (GRCm39) |
M237K |
probably benign |
Het |
| Pals1 |
G |
A |
12: 78,844,006 (GRCm39) |
R70H |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,767,379 (GRCm39) |
Y331C |
possibly damaging |
Het |
| Pirb |
T |
A |
7: 3,719,273 (GRCm39) |
T539S |
probably benign |
Het |
| Plch2 |
T |
G |
4: 155,068,685 (GRCm39) |
T1314P |
probably benign |
Het |
| Polk |
T |
C |
13: 96,644,728 (GRCm39) |
S133G |
probably benign |
Het |
| Pramel27 |
A |
G |
4: 143,578,399 (GRCm39) |
I220V |
probably damaging |
Het |
| Prdm5 |
A |
T |
6: 65,904,967 (GRCm39) |
K533* |
probably null |
Het |
| Prmt1 |
T |
A |
7: 44,632,997 (GRCm39) |
Q35H |
probably benign |
Het |
| Pum3 |
A |
T |
19: 27,401,625 (GRCm39) |
W142R |
probably damaging |
Het |
| Rest |
G |
A |
5: 77,430,455 (GRCm39) |
R958H |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,798,782 (GRCm39) |
T343M |
probably damaging |
Het |
| Ripor2 |
G |
A |
13: 24,855,886 (GRCm39) |
G109R |
probably damaging |
Het |
| Sec62 |
C |
T |
3: 30,872,978 (GRCm39) |
Q354* |
probably null |
Het |
| Snx14 |
T |
C |
9: 88,263,844 (GRCm39) |
Y847C |
probably damaging |
Het |
| Sox7 |
A |
T |
14: 64,185,438 (GRCm39) |
D158V |
probably benign |
Het |
| Spag8 |
A |
G |
4: 43,652,034 (GRCm39) |
V350A |
possibly damaging |
Het |
| Syngr1 |
A |
T |
15: 79,995,934 (GRCm39) |
I158F |
probably damaging |
Het |
| Tacstd2 |
C |
A |
6: 67,511,979 (GRCm39) |
V238L |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,063,014 (GRCm39) |
S815P |
possibly damaging |
Het |
| Tmem117 |
A |
T |
15: 94,612,793 (GRCm39) |
T110S |
possibly damaging |
Het |
| Tnrc6a |
T |
C |
7: 122,770,718 (GRCm39) |
I836T |
probably benign |
Het |
| Trim30b |
C |
A |
7: 104,006,569 (GRCm39) |
V96L |
probably benign |
Het |
| Tssk3 |
TGCTATCATGGGG |
TG |
4: 129,383,106 (GRCm39) |
|
probably null |
Het |
| Tyk2 |
G |
T |
9: 21,031,822 (GRCm39) |
H418N |
probably benign |
Het |
| Uap1 |
G |
T |
1: 169,986,472 (GRCm39) |
T170K |
probably damaging |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,606 (GRCm39) |
V141A |
not run |
Het |
| Vmn1r54 |
T |
A |
6: 90,246,647 (GRCm39) |
I187K |
probably damaging |
Het |
| Vmp1 |
C |
T |
11: 86,492,859 (GRCm39) |
V317M |
probably damaging |
Het |
| Wnt8b |
A |
G |
19: 44,500,511 (GRCm39) |
K366R |
probably benign |
Het |
| Zfp207 |
C |
T |
11: 80,286,004 (GRCm39) |
P415L |
unknown |
Het |
| Zfp263 |
A |
G |
16: 3,562,435 (GRCm39) |
E66G |
probably damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,990,695 (GRCm39) |
S431P |
probably benign |
Het |
| Zfp985 |
T |
A |
4: 147,667,913 (GRCm39) |
H260Q |
probably damaging |
Het |
| Zmiz1 |
GCC |
GC |
14: 25,576,624 (GRCm39) |
|
probably null |
Het |
| Zmiz1 |
A |
G |
14: 25,576,633 (GRCm39) |
R47G |
probably damaging |
Het |
| Zmiz1 |
A |
C |
14: 25,576,631 (GRCm39) |
Q46P |
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 |
|
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 |
|
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'- TCACAACAGAGAGTAAGTGTCAAGTAC -3'
(R):5'- TGAGGACTAAAACTATGGCCAAGAC -3'
Sequencing Primer
(F):5'- GAGTAAGTGTCAAGTACGCCCTC -3'
(R):5'- GACTCCTACAGCAGTAAGATGGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation