Incidental Mutation 'R2288:Clasp1'
| ID |
244168 |
| 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 |
040287-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R2288 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
118314976-118537192 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118506608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 940
(I940V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049404]
[ENSMUST00000070989]
[ENSMUST00000165223]
[ENSMUST00000178710]
[ENSMUST00000185405]
[ENSMUST00000186349]
[ENSMUST00000187713]
[ENSMUST00000189570]
[ENSMUST00000189738]
[ENSMUST00000188710]
[ENSMUST00000191445]
[ENSMUST00000191823]
[ENSMUST00000189262]
[ENSMUST00000190571]
[ENSMUST00000204325]
[ENSMUST00000190733]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049404
AA Change: I1232V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042266
Gene: ENSMUSG00000064302
AA Change: I1232V
| 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: I1222V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000067858
Gene: ENSMUSG00000064302
AA Change: I1222V
| 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: I1148V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128089
Gene: ENSMUSG00000064302
AA Change: I1148V
| 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: I1155V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137137
Gene: ENSMUSG00000064302
AA Change: I1155V
| 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: I1188V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139619
Gene: ENSMUSG00000064302
AA Change: I1188V
| 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: I1232V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141105
Gene: ENSMUSG00000064302
AA Change: I1232V
| 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: I1171V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139526
Gene: ENSMUSG00000064302
AA Change: I1171V
| 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: ENSMUST00000189570
AA Change: I1164V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140167
Gene: ENSMUSG00000064302
AA Change: I1164V
| 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: I1173V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140665
Gene: ENSMUSG00000064302
AA Change: I1173V
| 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: ENSMUST00000188710
AA Change: I1222V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140593
Gene: ENSMUSG00000064302
AA Change: I1222V
| 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: ENSMUST00000191445
AA Change: I1165V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140095
Gene: ENSMUSG00000064302
AA Change: I1165V
| 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: I940V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142203
Gene: ENSMUSG00000064302
AA Change: I940V
| 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: ENSMUST00000189262
AA Change: I1156V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140860
Gene: ENSMUSG00000064302
AA Change: I1156V
| 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: ENSMUST00000190571
AA Change: I1248V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140019
Gene: ENSMUSG00000064302
AA Change: I1248V
| Domain | Start | End | E-Value | Type |
|---|
|
TOG
|
1 |
232 |
3.4e-55 |
SMART |
|
low complexity region
|
252 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
296 |
N/A |
INTRINSIC |
|
TOG
|
319 |
551 |
5.5e-16 |
SMART |
|
low complexity region
|
579 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
771 |
N/A |
INTRINSIC |
|
low complexity region
|
805 |
819 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
847 |
N/A |
INTRINSIC |
|
TOG
|
863 |
1101 |
1.6e-5 |
SMART |
|
low complexity region
|
1112 |
1129 |
N/A |
INTRINSIC |
|
low complexity region
|
1150 |
1163 |
N/A |
INTRINSIC |
|
low complexity region
|
1241 |
1252 |
N/A |
INTRINSIC |
|
TOG
|
1303 |
1541 |
2.3e-34 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000192387
AA Change: I279V
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203646
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204325
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190733
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf4 |
T |
C |
17: 42,978,402 (GRCm39) |
T314A |
probably benign |
Het |
| Ces2a |
T |
C |
8: 105,464,069 (GRCm39) |
S234P |
probably damaging |
Het |
| Cfh |
A |
T |
1: 140,026,639 (GRCm39) |
N571K |
possibly damaging |
Het |
| Dapk1 |
T |
C |
13: 60,909,563 (GRCm39) |
L1392S |
probably damaging |
Het |
| Fbxw19 |
T |
A |
9: 109,322,636 (GRCm39) |
L111F |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Nek10 |
G |
T |
14: 14,853,956 (GRCm38) |
E381* |
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or5m3b |
T |
A |
2: 85,872,377 (GRCm39) |
C239* |
probably null |
Het |
| Peg3 |
T |
C |
7: 6,712,114 (GRCm39) |
E1036G |
probably damaging |
Het |
| Pgap4 |
A |
T |
4: 49,586,445 (GRCm39) |
L241Q |
probably damaging |
Het |
| Psma3 |
T |
G |
12: 71,041,145 (GRCm39) |
D173E |
possibly damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,597,695 (GRCm39) |
L1135P |
probably damaging |
Het |
| Sfxn1 |
A |
G |
13: 54,247,976 (GRCm39) |
I234V |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,735,886 (GRCm39) |
V1855A |
probably benign |
Het |
| Tctn3 |
A |
T |
19: 40,594,157 (GRCm39) |
C419S |
probably damaging |
Het |
| Tlr3 |
T |
A |
8: 45,850,705 (GRCm39) |
I207F |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,739,963 (GRCm39) |
R992S |
probably damaging |
Het |
| V1ra8 |
T |
C |
6: 90,180,024 (GRCm39) |
S76P |
probably damaging |
Het |
| Vnn3 |
A |
G |
10: 23,740,354 (GRCm39) |
D219G |
probably benign |
Het |
| Zfp536 |
T |
A |
7: 37,179,773 (GRCm39) |
D944V |
probably damaging |
Het |
| Zfp683 |
CGGG |
CCGGGGG |
4: 133,783,381 (GRCm39) |
|
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 |
|
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 |
|
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'- GCAAATGGAAATCTCTGACCCC -3'
(R):5'- AGCTGCTCCATGTCATCGTC -3'
Sequencing Primer
(F):5'- ACTCTGTAGACCTGAGTTCAAGGC -3'
(R):5'- GTCAAACACTGCTTCCTTCAGAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation