Incidental Mutation 'IGL01324:Camsap1'
ID |
74188 |
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 # |
IGL01324
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
25816850-25873294 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 25823635 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 1472
(V1472L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139028
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091268]
[ENSMUST00000114167]
[ENSMUST00000134882]
[ENSMUST00000183461]
|
AlphaFold |
A2AHC3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091268
AA Change: V1472L
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000088812 Gene: ENSMUSG00000026933 AA Change: V1472L
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 |
possibly damaging
Transcript: ENSMUST00000114167
AA Change: V1472L
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000109804 Gene: ENSMUSG00000026933 AA Change: V1472L
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: 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 |
noncoding transcript
Transcript: ENSMUST00000134970
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143977
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148146
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183461
AA Change: V1472L
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000139028 Gene: ENSMUSG00000026933 AA Change: V1472L
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
G |
A |
19: 8,980,396 (GRCm39) |
G560D |
probably damaging |
Het |
Ap1g1 |
T |
A |
8: 110,559,414 (GRCm39) |
D239E |
possibly damaging |
Het |
Ap2a1 |
T |
A |
7: 44,555,120 (GRCm39) |
T482S |
probably damaging |
Het |
BC004004 |
T |
C |
17: 29,501,225 (GRCm39) |
L58P |
probably damaging |
Het |
Ces3b |
A |
T |
8: 105,819,884 (GRCm39) |
E569V |
probably damaging |
Het |
Commd6 |
G |
A |
14: 101,877,738 (GRCm39) |
|
probably benign |
Het |
Ddx54 |
A |
G |
5: 120,761,703 (GRCm39) |
D493G |
probably benign |
Het |
Dync1h1 |
C |
T |
12: 110,593,299 (GRCm39) |
R1189C |
probably damaging |
Het |
Ern2 |
T |
A |
7: 121,782,413 (GRCm39) |
I68F |
possibly damaging |
Het |
Eya4 |
A |
G |
10: 22,992,449 (GRCm39) |
|
probably null |
Het |
Gda |
A |
T |
19: 21,387,250 (GRCm39) |
I325K |
probably damaging |
Het |
Gmnn |
T |
C |
13: 24,936,105 (GRCm39) |
T190A |
probably benign |
Het |
Hdac4 |
G |
A |
1: 91,887,137 (GRCm39) |
P801S |
probably damaging |
Het |
Hnrnph3 |
A |
T |
10: 62,853,903 (GRCm39) |
*72K |
probably null |
Het |
Hoxd12 |
A |
T |
2: 74,505,480 (GRCm39) |
N17I |
probably damaging |
Het |
Incenp |
G |
A |
19: 9,861,092 (GRCm39) |
R497C |
unknown |
Het |
Iqsec1 |
C |
A |
6: 90,666,685 (GRCm39) |
R584L |
probably damaging |
Het |
Kcnip1 |
A |
G |
11: 33,595,603 (GRCm39) |
M1T |
probably null |
Het |
Kcnu1 |
T |
A |
8: 26,339,735 (GRCm39) |
S18T |
probably benign |
Het |
Lepr |
T |
A |
4: 101,625,265 (GRCm39) |
D473E |
probably benign |
Het |
Nfkbiz |
T |
C |
16: 55,636,167 (GRCm39) |
T564A |
probably damaging |
Het |
Nsd3 |
C |
T |
8: 26,152,836 (GRCm39) |
T392I |
probably damaging |
Het |
Or10a5 |
T |
C |
7: 106,636,054 (GRCm39) |
S231P |
probably damaging |
Het |
Or10w1 |
T |
C |
19: 13,632,297 (GRCm39) |
I163T |
probably damaging |
Het |
P4ha2 |
A |
G |
11: 54,010,984 (GRCm39) |
D333G |
probably damaging |
Het |
Parg |
T |
C |
14: 32,018,142 (GRCm39) |
|
probably benign |
Het |
Psmc2 |
G |
A |
5: 22,005,007 (GRCm39) |
|
probably null |
Het |
Rnf213 |
A |
G |
11: 119,338,063 (GRCm39) |
Y3354C |
probably damaging |
Het |
Siglec1 |
T |
G |
2: 130,927,461 (GRCm39) |
D115A |
probably damaging |
Het |
Slit3 |
G |
T |
11: 35,501,529 (GRCm39) |
G421V |
probably damaging |
Het |
Srgap3 |
T |
A |
6: 112,716,358 (GRCm39) |
H590L |
probably damaging |
Het |
Stk36 |
A |
C |
1: 74,664,769 (GRCm39) |
T628P |
possibly damaging |
Het |
Stx12 |
A |
T |
4: 132,590,576 (GRCm39) |
M107K |
probably benign |
Het |
Syne2 |
G |
T |
12: 76,090,526 (GRCm39) |
V5105F |
probably damaging |
Het |
Tecta |
T |
C |
9: 42,256,727 (GRCm39) |
S1650G |
probably damaging |
Het |
Tlr1 |
T |
C |
5: 65,082,522 (GRCm39) |
N685S |
probably damaging |
Het |
Trio |
A |
G |
15: 27,905,409 (GRCm39) |
V60A |
probably benign |
Het |
Ttyh3 |
G |
A |
5: 140,617,268 (GRCm39) |
R334W |
probably benign |
Het |
Ube2u |
A |
G |
4: 100,336,422 (GRCm39) |
E15G |
possibly damaging |
Het |
Ush2a |
G |
T |
1: 188,581,189 (GRCm39) |
V3690L |
probably benign |
Het |
Xab2 |
A |
G |
8: 3,671,232 (GRCm39) |
V16A |
possibly damaging |
Het |
|
Other mutations in Camsap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01555:Camsap1
|
APN |
2 |
25,829,405 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01667:Camsap1
|
APN |
2 |
25,835,293 (GRCm39) |
splice site |
probably benign |
|
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 |
2013-10-07 |