Incidental Mutation 'R1765:Clasp1'
ID |
194244 |
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 |
039797-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.953)
|
Stock # |
R1765 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
118314976-118537192 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 118433261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 247
(S247P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142203
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049404]
[ENSMUST00000070989]
[ENSMUST00000165223]
[ENSMUST00000178710]
[ENSMUST00000185405]
[ENSMUST00000186349]
[ENSMUST00000189738]
[ENSMUST00000189570]
[ENSMUST00000187713]
[ENSMUST00000189262]
[ENSMUST00000191823]
[ENSMUST00000188710]
[ENSMUST00000190571]
[ENSMUST00000191445]
[ENSMUST00000190733]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049404
AA Change: S479P
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000042266 Gene: ENSMUSG00000064302 AA Change: S479P
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: S479P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000067858 Gene: ENSMUSG00000064302 AA Change: S479P
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: S479P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000128089 Gene: ENSMUSG00000064302 AA Change: S479P
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: S479P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000137137 Gene: ENSMUSG00000064302 AA Change: S479P
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: S479P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000139619 Gene: ENSMUSG00000064302 AA Change: S479P
Domain | Start | End | E-Value | Type |
TOG
|
1 |
232 |
3.4e-55 |
SMART |
low complexity region
|
252 |
266 |
N/A |
INTRINSIC |
low complexity region
|
280 |
296 |
N/A |
INTRINSIC |
TOG
|
319 |
551 |
5.5e-16 |
SMART |
low complexity region
|
579 |
594 |
N/A |
INTRINSIC |
low complexity region
|
606 |
633 |
N/A |
INTRINSIC |
low complexity region
|
682 |
715 |
N/A |
INTRINSIC |
low complexity region
|
769 |
783 |
N/A |
INTRINSIC |
low complexity region
|
801 |
811 |
N/A |
INTRINSIC |
TOG
|
827 |
1065 |
1.6e-5 |
SMART |
low complexity region
|
1076 |
1093 |
N/A |
INTRINSIC |
low complexity region
|
1166 |
1177 |
N/A |
INTRINSIC |
TOG
|
1228 |
1466 |
2.3e-34 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186349
AA Change: S479P
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000141105 Gene: ENSMUSG00000064302 AA Change: S479P
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: ENSMUST00000189738
AA Change: S479P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000140665 Gene: ENSMUSG00000064302 AA Change: S479P
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: S479P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000140167 Gene: ENSMUSG00000064302 AA Change: S479P
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: ENSMUST00000187713
AA Change: S479P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000139526 Gene: ENSMUSG00000064302 AA Change: S479P
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: S479P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140860 Gene: ENSMUSG00000064302 AA Change: S479P
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: S247P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142203 Gene: ENSMUSG00000064302 AA Change: S247P
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: ENSMUST00000188710
AA Change: S479P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140593 Gene: ENSMUSG00000064302 AA Change: S479P
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: S479P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140019 Gene: ENSMUSG00000064302 AA Change: S479P
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: ENSMUST00000191445
AA Change: S479P
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140095 Gene: ENSMUSG00000064302 AA Change: S479P
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 |
noncoding transcript
Transcript: ENSMUST00000190135
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189676
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189216
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190733
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204886
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204904
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203646
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204552
|
Meta Mutation Damage Score |
0.3057 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
Validation Efficiency |
99% (90/91) |
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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
G |
T |
15: 59,887,194 (GRCm39) |
C415* |
probably null |
Het |
Adamtsl2 |
A |
C |
2: 26,992,842 (GRCm39) |
I652L |
probably benign |
Het |
Adgrl4 |
T |
C |
3: 151,248,872 (GRCm39) |
I720T |
probably damaging |
Het |
Agrn |
A |
T |
4: 156,261,284 (GRCm39) |
C604* |
probably null |
Het |
Amh |
AGCGCCTTGG |
AG |
10: 80,641,419 (GRCm39) |
|
probably null |
Het |
B3galt2 |
C |
A |
1: 143,522,207 (GRCm39) |
N114K |
probably benign |
Het |
Bud23 |
A |
T |
5: 135,084,897 (GRCm39) |
M59K |
probably benign |
Het |
C3 |
C |
T |
17: 57,531,401 (GRCm39) |
|
probably null |
Het |
C9orf72 |
A |
C |
4: 35,197,098 (GRCm39) |
H322Q |
probably damaging |
Het |
Cc2d2a |
A |
T |
5: 43,871,873 (GRCm39) |
D903V |
probably damaging |
Het |
Ccdc9b |
G |
A |
2: 118,591,128 (GRCm39) |
A135V |
probably benign |
Het |
Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
Cdan1 |
A |
C |
2: 120,551,230 (GRCm39) |
L1097V |
probably damaging |
Het |
Cdc26 |
T |
A |
4: 62,313,155 (GRCm39) |
N62I |
probably benign |
Het |
Cdc27 |
G |
T |
11: 104,425,607 (GRCm39) |
Q70K |
probably damaging |
Het |
Cenpq |
A |
T |
17: 41,235,178 (GRCm39) |
|
probably null |
Het |
Cep295 |
T |
C |
9: 15,239,200 (GRCm39) |
S1858G |
probably damaging |
Het |
Cyp2w1 |
C |
T |
5: 139,339,623 (GRCm39) |
T71I |
probably damaging |
Het |
Dcaf1 |
T |
C |
9: 106,741,793 (GRCm39) |
F1336S |
probably damaging |
Het |
Dennd6b |
G |
A |
15: 89,074,506 (GRCm39) |
Q104* |
probably null |
Het |
Dglucy |
T |
A |
12: 100,816,361 (GRCm39) |
|
probably null |
Het |
Dnajc9 |
A |
G |
14: 20,438,158 (GRCm39) |
V148A |
possibly damaging |
Het |
Dnmbp |
T |
A |
19: 43,890,579 (GRCm39) |
D396V |
possibly damaging |
Het |
Dock10 |
T |
A |
1: 80,583,540 (GRCm39) |
I221F |
probably damaging |
Het |
Dscam |
T |
C |
16: 96,486,579 (GRCm39) |
N1032S |
probably benign |
Het |
Dsg4 |
A |
C |
18: 20,589,888 (GRCm39) |
Y346S |
probably benign |
Het |
Dync1i2 |
A |
G |
2: 71,079,759 (GRCm39) |
H417R |
probably benign |
Het |
Dysf |
G |
A |
6: 84,167,884 (GRCm39) |
|
probably null |
Het |
Elovl1 |
A |
G |
4: 118,287,707 (GRCm39) |
M1V |
probably null |
Het |
Eva1c |
A |
G |
16: 90,701,135 (GRCm39) |
S257G |
probably benign |
Het |
Eya2 |
A |
T |
2: 165,566,723 (GRCm39) |
D258V |
probably damaging |
Het |
Fam193a |
A |
G |
5: 34,593,841 (GRCm39) |
T113A |
probably damaging |
Het |
Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
Fstl5 |
G |
T |
3: 76,500,783 (GRCm39) |
R404L |
possibly damaging |
Het |
Glud1 |
T |
C |
14: 34,047,541 (GRCm39) |
|
probably benign |
Het |
Gm10770 |
A |
C |
2: 150,021,258 (GRCm39) |
H86Q |
probably damaging |
Het |
Gzme |
C |
T |
14: 56,355,871 (GRCm39) |
G147D |
probably damaging |
Het |
Herc3 |
T |
C |
6: 58,865,645 (GRCm39) |
V746A |
probably damaging |
Het |
Hmga1 |
A |
G |
17: 27,778,592 (GRCm39) |
E17G |
probably damaging |
Het |
Kdelr2 |
A |
T |
5: 143,406,567 (GRCm39) |
K206* |
probably null |
Het |
Kng2 |
A |
G |
16: 22,806,993 (GRCm39) |
|
probably null |
Het |
Lrrc41 |
G |
A |
4: 115,946,248 (GRCm39) |
R321H |
possibly damaging |
Het |
Mapkapk2 |
A |
T |
1: 130,986,498 (GRCm39) |
M1K |
probably null |
Het |
Me2 |
A |
G |
18: 73,924,929 (GRCm39) |
F263L |
probably damaging |
Het |
Mkks |
A |
G |
2: 136,722,287 (GRCm39) |
L290P |
probably damaging |
Het |
Mmp12 |
T |
A |
9: 7,354,772 (GRCm39) |
I255N |
probably damaging |
Het |
Mogs |
A |
G |
6: 83,093,784 (GRCm39) |
D251G |
probably benign |
Het |
Morf4l1 |
T |
A |
9: 89,984,401 (GRCm39) |
Y65F |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,094,676 (GRCm39) |
D5169G |
probably damaging |
Het |
Nin |
A |
G |
12: 70,089,665 (GRCm39) |
L1250P |
probably damaging |
Het |
Nomo1 |
G |
T |
7: 45,715,717 (GRCm39) |
G721V |
possibly damaging |
Het |
Notch2 |
T |
G |
3: 98,029,242 (GRCm39) |
C1002G |
probably damaging |
Het |
Npat |
T |
C |
9: 53,481,522 (GRCm39) |
Y1077H |
probably benign |
Het |
Or1e1c |
T |
A |
11: 73,266,170 (GRCm39) |
N198K |
probably damaging |
Het |
Or4g17 |
G |
A |
2: 111,209,491 (GRCm39) |
V49I |
probably benign |
Het |
Or4p21 |
A |
T |
2: 88,276,367 (GRCm39) |
F305Y |
probably damaging |
Het |
Or5h25 |
A |
G |
16: 58,930,118 (GRCm39) |
L285P |
probably damaging |
Het |
Or8c16 |
T |
C |
9: 38,130,548 (GRCm39) |
I143T |
probably benign |
Het |
Otop2 |
A |
T |
11: 115,215,504 (GRCm39) |
I142F |
probably benign |
Het |
Pacsin3 |
A |
G |
2: 91,093,460 (GRCm39) |
E279G |
possibly damaging |
Het |
Pafah2 |
A |
G |
4: 134,140,758 (GRCm39) |
T243A |
probably benign |
Het |
Pcdhgc5 |
A |
G |
18: 37,954,913 (GRCm39) |
H729R |
probably benign |
Het |
Plcd1 |
T |
C |
9: 118,900,874 (GRCm39) |
D756G |
probably damaging |
Het |
Prune2 |
A |
G |
19: 17,102,962 (GRCm39) |
E2707G |
probably damaging |
Het |
Rit2 |
C |
T |
18: 31,449,951 (GRCm39) |
G16S |
probably damaging |
Het |
Sec24c |
A |
G |
14: 20,738,922 (GRCm39) |
|
probably benign |
Het |
Skint5 |
G |
T |
4: 113,434,858 (GRCm39) |
T1037K |
unknown |
Het |
Slc28a2 |
T |
A |
2: 122,290,876 (GRCm39) |
|
probably null |
Het |
Slc41a2 |
G |
A |
10: 83,137,130 (GRCm39) |
A259V |
probably damaging |
Het |
Slc6a17 |
T |
A |
3: 107,380,895 (GRCm39) |
I537F |
possibly damaging |
Het |
Slco1a7 |
T |
C |
6: 141,700,084 (GRCm39) |
|
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,707,196 (GRCm39) |
|
probably benign |
Het |
Smg1 |
T |
C |
7: 117,738,938 (GRCm39) |
I3489V |
probably benign |
Het |
Sytl3 |
T |
C |
17: 6,967,082 (GRCm39) |
L142P |
probably damaging |
Het |
Tektl1 |
A |
T |
10: 78,584,502 (GRCm39) |
M340K |
probably benign |
Het |
Tfr2 |
C |
T |
5: 137,581,707 (GRCm39) |
T598I |
probably damaging |
Het |
Tmc2 |
A |
G |
2: 130,102,145 (GRCm39) |
Q770R |
probably benign |
Het |
Tnc |
C |
T |
4: 63,932,231 (GRCm39) |
V728M |
probably damaging |
Het |
Trim68 |
A |
T |
7: 102,329,597 (GRCm39) |
M177K |
possibly damaging |
Het |
Trmt11 |
T |
C |
10: 30,435,184 (GRCm39) |
D325G |
probably benign |
Het |
Ube3a |
C |
T |
7: 58,935,862 (GRCm39) |
T582I |
probably damaging |
Het |
Usp13 |
G |
A |
3: 32,969,919 (GRCm39) |
E682K |
probably benign |
Het |
Usp9y |
A |
G |
Y: 1,384,454 (GRCm39) |
V688A |
possibly damaging |
Het |
Uts2r |
A |
G |
11: 121,052,095 (GRCm39) |
T320A |
possibly damaging |
Het |
Vmn1r34 |
A |
T |
6: 66,614,480 (GRCm39) |
M86K |
probably damaging |
Het |
Vsig10 |
A |
G |
5: 117,456,880 (GRCm39) |
|
probably benign |
Het |
Zbtb41 |
T |
A |
1: 139,368,132 (GRCm39) |
C607S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATCCCTCAGAACCACTTTGCTGAC -3'
(R):5'- TCACAATAGTGCATACTGCCCGC -3'
Sequencing Primer
(F):5'- AGAACCACTTTGCTGACCTAGTC -3'
(R):5'- ttcttacatgctatgcaagcac -3'
|
Posted On |
2014-05-23 |