Incidental Mutation 'IGL01667:Camsap1'
ID |
103357 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Camsap1
|
Ensembl Gene |
ENSMUSG00000026933 |
Gene Name |
calmodulin regulated spectrin-associated protein 1 |
Synonyms |
9530003A05Rik, PRO2405 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.272)
|
Stock # |
IGL01667
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
25816850-25873294 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 25835293 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139028
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091268]
[ENSMUST00000114167]
[ENSMUST00000134882]
[ENSMUST00000183461]
|
AlphaFold |
A2AHC3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000091268
|
SMART Domains |
Protein: ENSMUSP00000088812 Gene: ENSMUSG00000026933
Domain | Start | End | E-Value | Type |
Pfam:CAMSAP_CH
|
228 |
311 |
3.3e-35 |
PFAM |
low complexity region
|
732 |
747 |
N/A |
INTRINSIC |
low complexity region
|
792 |
807 |
N/A |
INTRINSIC |
low complexity region
|
826 |
837 |
N/A |
INTRINSIC |
Pfam:CAMSAP_CC1
|
859 |
917 |
3.8e-29 |
PFAM |
coiled coil region
|
1010 |
1037 |
N/A |
INTRINSIC |
coiled coil region
|
1267 |
1336 |
N/A |
INTRINSIC |
low complexity region
|
1341 |
1353 |
N/A |
INTRINSIC |
low complexity region
|
1373 |
1390 |
N/A |
INTRINSIC |
low complexity region
|
1429 |
1439 |
N/A |
INTRINSIC |
CAMSAP_CKK
|
1442 |
1570 |
3.6e-85 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114167
|
SMART Domains |
Protein: ENSMUSP00000109804 Gene: ENSMUSG00000026933
Domain | Start | End | E-Value | Type |
Pfam:CH
|
185 |
330 |
5.4e-34 |
PFAM |
Pfam:CAMSAP_CH
|
228 |
311 |
2.3e-34 |
PFAM |
low complexity region
|
732 |
747 |
N/A |
INTRINSIC |
low complexity region
|
792 |
807 |
N/A |
INTRINSIC |
low complexity region
|
826 |
837 |
N/A |
INTRINSIC |
coiled coil region
|
869 |
905 |
N/A |
INTRINSIC |
coiled coil region
|
1010 |
1037 |
N/A |
INTRINSIC |
coiled coil region
|
1267 |
1336 |
N/A |
INTRINSIC |
low complexity region
|
1341 |
1353 |
N/A |
INTRINSIC |
low complexity region
|
1373 |
1390 |
N/A |
INTRINSIC |
low complexity region
|
1429 |
1439 |
N/A |
INTRINSIC |
CAMSAP_CKK
|
1442 |
1570 |
3.6e-85 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134054
|
SMART Domains |
Protein: ENSMUSP00000121689 Gene: ENSMUSG00000026933
Domain | Start | End | E-Value | Type |
Blast:Beach
|
40 |
100 |
5e-6 |
BLAST |
Pfam:CAMSAP_CH
|
170 |
253 |
1.4e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134882
|
SMART Domains |
Protein: ENSMUSP00000117203 Gene: ENSMUSG00000026933
Domain | Start | End | E-Value | Type |
Pfam:CH
|
185 |
350 |
1.3e-33 |
PFAM |
Pfam:CAMSAP_CH
|
248 |
331 |
2.6e-34 |
PFAM |
low complexity region
|
752 |
767 |
N/A |
INTRINSIC |
low complexity region
|
812 |
827 |
N/A |
INTRINSIC |
low complexity region
|
846 |
857 |
N/A |
INTRINSIC |
coiled coil region
|
889 |
925 |
N/A |
INTRINSIC |
coiled coil region
|
1030 |
1057 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142028
|
SMART Domains |
Protein: ENSMUSP00000119296 Gene: ENSMUSG00000026933
Domain | Start | End | E-Value | Type |
Pfam:CAMSAP_CH
|
101 |
164 |
7.5e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143977
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151593
|
SMART Domains |
Protein: ENSMUSP00000123541 Gene: ENSMUSG00000026933
Domain | Start | End | E-Value | Type |
Pfam:CAMSAP_CH
|
88 |
171 |
5.7e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183461
|
SMART Domains |
Protein: ENSMUSP00000139028 Gene: ENSMUSG00000026933
Domain | Start | End | E-Value | Type |
Pfam:CH
|
185 |
330 |
5.4e-34 |
PFAM |
Pfam:CAMSAP_CH
|
228 |
311 |
2.3e-34 |
PFAM |
low complexity region
|
732 |
747 |
N/A |
INTRINSIC |
low complexity region
|
792 |
807 |
N/A |
INTRINSIC |
low complexity region
|
826 |
837 |
N/A |
INTRINSIC |
coiled coil region
|
869 |
905 |
N/A |
INTRINSIC |
coiled coil region
|
1010 |
1037 |
N/A |
INTRINSIC |
coiled coil region
|
1267 |
1336 |
N/A |
INTRINSIC |
low complexity region
|
1341 |
1353 |
N/A |
INTRINSIC |
low complexity region
|
1373 |
1390 |
N/A |
INTRINSIC |
low complexity region
|
1429 |
1439 |
N/A |
INTRINSIC |
CAMSAP_CKK
|
1442 |
1570 |
3.6e-85 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(4) : Targeted, other(2) Gene trapped(2) |
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
A |
G |
7: 75,219,767 (GRCm39) |
T57A |
probably damaging |
Het |
Akna |
G |
T |
4: 63,297,396 (GRCm39) |
T886N |
probably benign |
Het |
Aqp9 |
A |
G |
9: 71,045,495 (GRCm39) |
V38A |
probably benign |
Het |
Awat2 |
C |
T |
X: 99,447,860 (GRCm39) |
G124D |
probably damaging |
Het |
Catsperg2 |
T |
C |
7: 29,409,558 (GRCm39) |
Y545C |
probably damaging |
Het |
Cldn23 |
A |
G |
8: 36,293,074 (GRCm39) |
F138S |
possibly damaging |
Het |
Clec4a3 |
A |
C |
6: 122,929,819 (GRCm39) |
|
probably benign |
Het |
Dlgap3 |
C |
A |
4: 127,127,690 (GRCm39) |
T786K |
probably benign |
Het |
Dnah2 |
A |
C |
11: 69,435,221 (GRCm39) |
S50A |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,411,767 (GRCm39) |
I285N |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,586,451 (GRCm39) |
Y1467H |
probably damaging |
Het |
Fgf22 |
C |
T |
10: 79,592,588 (GRCm39) |
P115L |
probably damaging |
Het |
Fzd2 |
G |
T |
11: 102,496,608 (GRCm39) |
V351L |
possibly damaging |
Het |
Gapdhs |
T |
A |
7: 30,436,062 (GRCm39) |
E174V |
possibly damaging |
Het |
Gjc2 |
A |
C |
11: 59,068,344 (GRCm39) |
I46S |
probably damaging |
Het |
Gm5581 |
T |
C |
6: 131,144,735 (GRCm39) |
|
noncoding transcript |
Het |
Krt1c |
C |
A |
15: 101,724,765 (GRCm39) |
V282L |
possibly damaging |
Het |
Myh15 |
G |
A |
16: 49,015,942 (GRCm39) |
V1873M |
probably benign |
Het |
Myo1b |
T |
C |
1: 51,799,536 (GRCm39) |
T931A |
probably damaging |
Het |
Myo6 |
A |
T |
9: 80,197,175 (GRCm39) |
K965N |
unknown |
Het |
Or5a3 |
T |
C |
19: 12,400,120 (GRCm39) |
V149A |
probably benign |
Het |
Pcnx3 |
T |
C |
19: 5,736,658 (GRCm39) |
R160G |
probably benign |
Het |
Slc22a16 |
T |
C |
10: 40,461,014 (GRCm39) |
I272T |
probably damaging |
Het |
Slc35b4 |
A |
G |
6: 34,144,610 (GRCm39) |
Y82H |
possibly damaging |
Het |
Spdya |
T |
C |
17: 71,863,254 (GRCm39) |
M1T |
probably null |
Het |
St6gal1 |
A |
G |
16: 23,140,174 (GRCm39) |
N115S |
probably benign |
Het |
Tbc1d12 |
A |
T |
19: 38,902,744 (GRCm39) |
|
probably benign |
Het |
Tfrc |
A |
G |
16: 32,443,261 (GRCm39) |
|
probably benign |
Het |
Trip11 |
A |
C |
12: 101,845,121 (GRCm39) |
F1539C |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,611,422 (GRCm39) |
I15624N |
possibly damaging |
Het |
Vmn1r169 |
A |
T |
7: 23,277,225 (GRCm39) |
M206L |
probably benign |
Het |
Zfp362 |
A |
G |
4: 128,680,902 (GRCm39) |
L141P |
probably damaging |
Het |
Zfp692 |
A |
G |
11: 58,202,379 (GRCm39) |
H378R |
probably damaging |
Het |
Zfp799 |
T |
C |
17: 33,040,794 (GRCm39) |
Q52R |
possibly damaging |
Het |
|
Other mutations in Camsap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01324:Camsap1
|
APN |
2 |
25,823,635 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01555:Camsap1
|
APN |
2 |
25,829,405 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02167:Camsap1
|
APN |
2 |
25,824,312 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02191:Camsap1
|
APN |
2 |
25,819,892 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02285:Camsap1
|
APN |
2 |
25,819,814 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02393:Camsap1
|
APN |
2 |
25,828,334 (GRCm39) |
missense |
probably benign |
0.10 |
3-1:Camsap1
|
UTSW |
2 |
25,835,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R0631:Camsap1
|
UTSW |
2 |
25,823,659 (GRCm39) |
missense |
probably damaging |
0.98 |
R0828:Camsap1
|
UTSW |
2 |
25,829,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R1434:Camsap1
|
UTSW |
2 |
25,835,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R1687:Camsap1
|
UTSW |
2 |
25,829,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R2027:Camsap1
|
UTSW |
2 |
25,828,538 (GRCm39) |
missense |
possibly damaging |
0.51 |
R2048:Camsap1
|
UTSW |
2 |
25,819,755 (GRCm39) |
missense |
probably benign |
0.00 |
R3732:Camsap1
|
UTSW |
2 |
25,828,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R4437:Camsap1
|
UTSW |
2 |
25,828,658 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4494:Camsap1
|
UTSW |
2 |
25,842,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R4888:Camsap1
|
UTSW |
2 |
25,825,562 (GRCm39) |
missense |
probably benign |
0.03 |
R5028:Camsap1
|
UTSW |
2 |
25,834,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R5058:Camsap1
|
UTSW |
2 |
25,829,375 (GRCm39) |
missense |
probably benign |
0.01 |
R5105:Camsap1
|
UTSW |
2 |
25,830,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R5121:Camsap1
|
UTSW |
2 |
25,825,562 (GRCm39) |
missense |
probably benign |
0.03 |
R5153:Camsap1
|
UTSW |
2 |
25,823,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R5323:Camsap1
|
UTSW |
2 |
25,855,823 (GRCm39) |
missense |
probably damaging |
0.98 |
R6043:Camsap1
|
UTSW |
2 |
25,819,937 (GRCm39) |
missense |
probably benign |
0.00 |
R6479:Camsap1
|
UTSW |
2 |
25,825,874 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6502:Camsap1
|
UTSW |
2 |
25,846,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R6571:Camsap1
|
UTSW |
2 |
25,829,512 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7046:Camsap1
|
UTSW |
2 |
25,835,201 (GRCm39) |
missense |
probably damaging |
0.99 |
R7251:Camsap1
|
UTSW |
2 |
25,828,898 (GRCm39) |
missense |
probably damaging |
0.99 |
R8026:Camsap1
|
UTSW |
2 |
25,828,214 (GRCm39) |
missense |
probably benign |
0.17 |
R8133:Camsap1
|
UTSW |
2 |
25,824,309 (GRCm39) |
missense |
probably damaging |
0.99 |
R8152:Camsap1
|
UTSW |
2 |
25,830,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R8158:Camsap1
|
UTSW |
2 |
25,834,440 (GRCm39) |
nonsense |
probably null |
|
R8325:Camsap1
|
UTSW |
2 |
25,829,375 (GRCm39) |
missense |
probably benign |
0.01 |
R8339:Camsap1
|
UTSW |
2 |
25,872,817 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9187:Camsap1
|
UTSW |
2 |
25,820,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R9379:Camsap1
|
UTSW |
2 |
25,846,318 (GRCm39) |
missense |
|
|
R9419:Camsap1
|
UTSW |
2 |
25,845,304 (GRCm39) |
missense |
|
|
R9525:Camsap1
|
UTSW |
2 |
25,843,962 (GRCm39) |
missense |
probably benign |
|
R9526:Camsap1
|
UTSW |
2 |
25,843,962 (GRCm39) |
missense |
probably benign |
|
R9776:Camsap1
|
UTSW |
2 |
25,828,166 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Camsap1
|
UTSW |
2 |
25,830,893 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Camsap1
|
UTSW |
2 |
25,826,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-01-21 |