Incidental Mutation 'R4437:Camsap1'
| ID |
329561 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camsap1
|
| Ensembl Gene |
ENSMUSG00000026933 |
| Gene Name |
calmodulin regulated spectrin-associated protein 1 |
| Synonyms |
9530003A05Rik, PRO2405 |
| MMRRC Submission |
041150-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.331)
|
| Stock # |
R4437 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
25816850-25873294 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 25828658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 1022
(T1022I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109804
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091268]
[ENSMUST00000114167]
[ENSMUST00000134882]
[ENSMUST00000183461]
|
| AlphaFold |
A2AHC3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091268
AA Change: T1022I
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: T1022I
| 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: T1022I
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: T1022I
| 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
AA Change: T1042I
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000117203
Gene: ENSMUSG00000026933
AA Change: T1042I
| 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: T1022I
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: T1022I
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(4) : Targeted, other(2) Gene trapped(2) |
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
| Arhgef16 |
A |
G |
4: 154,364,153 (GRCm39) |
|
probably null |
Het |
| Bcar1 |
G |
A |
8: 112,442,021 (GRCm39) |
T273M |
probably damaging |
Het |
| Bcl2a1d |
A |
T |
9: 88,613,753 (GRCm39) |
M7K |
probably benign |
Het |
| Bptf |
A |
G |
11: 106,965,300 (GRCm39) |
V1235A |
possibly damaging |
Het |
| Cdc37l1 |
T |
C |
19: 28,985,021 (GRCm39) |
F224L |
probably damaging |
Het |
| Col4a1 |
G |
T |
8: 11,256,387 (GRCm39) |
C1493* |
probably null |
Het |
| Cul9 |
A |
G |
17: 46,813,085 (GRCm39) |
L2378P |
probably damaging |
Het |
| D630003M21Rik |
G |
A |
2: 158,055,382 (GRCm39) |
P585L |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,263,248 (GRCm39) |
D567G |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,339,236 (GRCm39) |
I510V |
probably benign |
Het |
| Garin2 |
T |
A |
12: 78,761,824 (GRCm39) |
F163I |
probably damaging |
Het |
| Gm2381 |
A |
T |
7: 42,469,268 (GRCm39) |
H285Q |
probably damaging |
Het |
| Gm4884 |
A |
G |
7: 40,692,514 (GRCm39) |
Q161R |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igkv1-99 |
T |
G |
6: 68,519,318 (GRCm39) |
S91A |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,655,982 (GRCm39) |
L302P |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,519,972 (GRCm39) |
|
probably null |
Het |
| Myoc |
A |
G |
1: 162,476,681 (GRCm39) |
M462V |
possibly damaging |
Het |
| Nkx2-4 |
T |
C |
2: 146,926,179 (GRCm39) |
T228A |
possibly damaging |
Het |
| Npr1 |
T |
G |
3: 90,363,593 (GRCm39) |
D810A |
probably damaging |
Het |
| Or4a68 |
T |
G |
2: 89,269,698 (GRCm39) |
R308S |
possibly damaging |
Het |
| Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
| Or51a24 |
T |
C |
7: 103,734,128 (GRCm39) |
E53G |
possibly damaging |
Het |
| Pde4dip |
G |
A |
3: 97,673,885 (GRCm39) |
L344F |
possibly damaging |
Het |
| Pfas |
A |
G |
11: 68,879,243 (GRCm39) |
L1218P |
probably damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,021,318 (GRCm39) |
E79G |
probably damaging |
Het |
| Rln1 |
A |
T |
19: 29,311,962 (GRCm39) |
F12Y |
possibly damaging |
Het |
| Robo2 |
T |
C |
16: 73,770,132 (GRCm39) |
T531A |
possibly damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Tsc2 |
G |
A |
17: 24,818,687 (GRCm39) |
P1450L |
probably benign |
Het |
| Vps33a |
A |
T |
5: 123,669,947 (GRCm39) |
I519N |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCCTGTCTTTTGGAACC -3'
(R):5'- TCAGTGACGCTCAGGATGTG -3'
Sequencing Primer
(F):5'- AACCTTCAGTTCAGCCGG -3'
(R):5'- GTGGCATTTGTCCAGCTACATAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation