Incidental Mutation 'IGL02191:Camsap1'
| ID |
283866 |
| 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 # |
IGL02191
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
25816850-25873294 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25819892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1531
(I1531T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091268]
[ENSMUST00000114167]
[ENSMUST00000183461]
|
| AlphaFold |
A2AHC3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091268
AA Change: I1531T
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: I1531T
| 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: I1532T
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: I1532T
| 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 |
noncoding transcript
Transcript: ENSMUST00000134970
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143977
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148146
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183461
AA Change: I1531T
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: I1531T
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
C |
12: 80,220,883 (GRCm39) |
I642V |
probably benign |
Het |
| Adam5 |
G |
A |
8: 25,302,439 (GRCm39) |
R185* |
probably null |
Het |
| C2 |
T |
C |
17: 35,085,539 (GRCm39) |
I122V |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,863,205 (GRCm39) |
T1276A |
possibly damaging |
Het |
| Cnot7 |
A |
T |
8: 40,963,068 (GRCm39) |
N35K |
probably benign |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,036 (GRCm39) |
I482V |
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,302,495 (GRCm39) |
E97G |
probably damaging |
Het |
| Cyp51 |
C |
A |
5: 4,150,147 (GRCm39) |
R192I |
probably benign |
Het |
| Ddx59 |
T |
C |
1: 136,344,896 (GRCm39) |
L189P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 72,994,780 (GRCm39) |
I4127T |
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,815,340 (GRCm39) |
V1217I |
probably benign |
Het |
| Ergic2 |
T |
C |
6: 148,106,319 (GRCm39) |
D57G |
probably null |
Het |
| Flvcr2 |
A |
T |
12: 85,832,966 (GRCm39) |
K329* |
probably null |
Het |
| Foxp1 |
T |
C |
6: 98,922,561 (GRCm39) |
S327G |
probably damaging |
Het |
| Gen1 |
A |
C |
12: 11,292,297 (GRCm39) |
H562Q |
probably benign |
Het |
| Gjc2 |
A |
G |
11: 59,068,386 (GRCm39) |
V32A |
probably damaging |
Het |
| Grk4 |
C |
T |
5: 34,912,533 (GRCm39) |
H574Y |
probably benign |
Het |
| Kif15 |
T |
A |
9: 122,804,744 (GRCm39) |
C93S |
probably damaging |
Het |
| Lrtm1 |
A |
C |
14: 28,743,906 (GRCm39) |
I125L |
probably benign |
Het |
| Mrgprb8 |
A |
G |
7: 48,038,527 (GRCm39) |
Y66C |
probably damaging |
Het |
| Pfn1 |
G |
A |
11: 70,545,209 (GRCm39) |
A33V |
probably damaging |
Het |
| Scnn1b |
A |
C |
7: 121,516,736 (GRCm39) |
K492Q |
probably damaging |
Het |
| Slc22a29 |
G |
A |
19: 8,196,045 (GRCm39) |
|
probably benign |
Het |
| Spocd1 |
A |
G |
4: 129,847,380 (GRCm39) |
D523G |
probably damaging |
Het |
| Tmem144 |
A |
T |
3: 79,734,159 (GRCm39) |
D181E |
possibly damaging |
Het |
| Tmem220 |
G |
A |
11: 66,921,933 (GRCm39) |
C101Y |
probably damaging |
Het |
| Tmpo |
A |
G |
10: 90,997,741 (GRCm39) |
V682A |
probably benign |
Het |
| Wdr93 |
A |
G |
7: 79,398,968 (GRCm39) |
K34R |
probably damaging |
Het |
| Zdhhc16 |
C |
A |
19: 41,926,130 (GRCm39) |
C8* |
probably null |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation