Incidental Mutation 'R4494:Camsap1'
| ID |
330864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camsap1
|
| Ensembl Gene |
ENSMUSG00000026933 |
| Gene Name |
calmodulin regulated spectrin-associated protein 1 |
| Synonyms |
9530003A05Rik, PRO2405 |
| MMRRC Submission |
041582-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.272)
|
| Stock # |
R4494 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
25816850-25873294 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25842770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 262
(D262G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091268]
[ENSMUST00000114167]
[ENSMUST00000134882]
[ENSMUST00000139937]
[ENSMUST00000183461]
|
| AlphaFold |
A2AHC3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091268
AA Change: D242G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: D242G
| 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 damaging
Transcript: ENSMUST00000114167
AA Change: D242G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: D242G
| 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 |
unknown
Transcript: ENSMUST00000134054
AA Change: D183G
|
| SMART Domains |
Protein: ENSMUSP00000121689
Gene: ENSMUSG00000026933
AA Change: D183G
| 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 damaging
Transcript: ENSMUST00000134882
AA Change: D262G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117203
Gene: ENSMUSG00000026933
AA Change: D262G
| 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: ENSMUST00000139937
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000142028
AA Change: D114G
|
| SMART Domains |
Protein: ENSMUSP00000119296
Gene: ENSMUSG00000026933
AA Change: D114G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAMSAP_CH
|
101 |
164 |
7.5e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143977
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183461
AA Change: D242G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: D242G
| 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 |
unknown
Transcript: ENSMUST00000151593
AA Change: D101G
|
| SMART Domains |
Protein: ENSMUSP00000123541
Gene: ENSMUSG00000026933
AA Change: D101G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAMSAP_CH
|
88 |
171 |
5.7e-37 |
PFAM |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf7ip |
T |
A |
6: 136,540,747 (GRCm39) |
|
probably null |
Het |
| Cacna1b |
T |
C |
2: 24,542,950 (GRCm39) |
T1301A |
probably damaging |
Het |
| Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
| Ccdc141 |
A |
G |
2: 76,962,641 (GRCm39) |
V101A |
probably damaging |
Het |
| Ccdc170 |
T |
C |
10: 4,464,128 (GRCm39) |
Y36H |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,451,428 (GRCm39) |
S492T |
probably benign |
Het |
| Chrna4 |
T |
A |
2: 180,670,281 (GRCm39) |
I492F |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,012,043 (GRCm39) |
Y217H |
probably damaging |
Het |
| Cnbd1 |
T |
A |
4: 19,098,150 (GRCm39) |
D90V |
probably benign |
Het |
| Cryba2 |
A |
G |
1: 74,929,789 (GRCm39) |
F116S |
probably damaging |
Het |
| Ctbp1 |
T |
C |
5: 33,408,213 (GRCm39) |
T240A |
possibly damaging |
Het |
| D130043K22Rik |
C |
T |
13: 25,055,339 (GRCm39) |
S501L |
probably benign |
Het |
| Ddhd2 |
A |
G |
8: 26,228,261 (GRCm39) |
F553S |
probably benign |
Het |
| Ddr2 |
C |
A |
1: 169,815,983 (GRCm39) |
G575W |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,621,098 (GRCm39) |
V537A |
possibly damaging |
Het |
| Dnah12 |
C |
T |
14: 26,593,812 (GRCm39) |
A752V |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,488,197 (GRCm39) |
D3260G |
probably benign |
Het |
| Efemp2 |
T |
A |
19: 5,530,339 (GRCm39) |
C309S |
probably damaging |
Het |
| Gse1 |
G |
A |
8: 121,297,553 (GRCm39) |
|
probably benign |
Het |
| Hspa4l |
T |
C |
3: 40,707,636 (GRCm39) |
S53P |
possibly damaging |
Het |
| Ighv5-4 |
T |
C |
12: 113,561,204 (GRCm39) |
D72G |
probably benign |
Het |
| Igkv15-103 |
A |
G |
6: 68,414,780 (GRCm39) |
N73S |
probably benign |
Het |
| Igsf11 |
T |
G |
16: 38,831,703 (GRCm39) |
N183K |
possibly damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kcnk18 |
T |
C |
19: 59,223,263 (GRCm39) |
V136A |
probably damaging |
Het |
| Krt75 |
A |
T |
15: 101,480,136 (GRCm39) |
Y240* |
probably null |
Het |
| Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
| Man2a2 |
C |
T |
7: 80,009,023 (GRCm39) |
|
probably null |
Het |
| Mme |
A |
G |
3: 63,254,613 (GRCm39) |
N491S |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msi2 |
T |
C |
11: 88,608,185 (GRCm39) |
D39G |
possibly damaging |
Het |
| Naa60 |
T |
A |
16: 3,718,585 (GRCm39) |
C122* |
probably null |
Het |
| Nes |
A |
G |
3: 87,884,120 (GRCm39) |
E793G |
probably damaging |
Het |
| Nfkb2 |
A |
G |
19: 46,296,878 (GRCm39) |
D316G |
probably damaging |
Het |
| Nme6 |
C |
T |
9: 109,671,122 (GRCm39) |
L121F |
probably damaging |
Het |
| Or4k47 |
T |
A |
2: 111,451,493 (GRCm39) |
K309* |
probably null |
Het |
| Otud1 |
C |
T |
2: 19,664,146 (GRCm39) |
T425I |
probably damaging |
Het |
| Pimreg |
T |
C |
11: 71,935,964 (GRCm39) |
V149A |
probably benign |
Het |
| Plbd1 |
T |
C |
6: 136,590,856 (GRCm39) |
I437V |
probably damaging |
Het |
| Prlhr |
A |
T |
19: 60,455,519 (GRCm39) |
M349K |
probably benign |
Het |
| Slc1a3 |
G |
A |
15: 8,668,579 (GRCm39) |
T462I |
probably damaging |
Het |
| Slc25a26 |
A |
G |
6: 94,575,384 (GRCm39) |
T198A |
probably damaging |
Het |
| Stkld1 |
A |
G |
2: 26,836,638 (GRCm39) |
N268S |
probably benign |
Het |
| Svop |
T |
C |
5: 114,183,688 (GRCm39) |
T195A |
probably damaging |
Het |
| Syt6 |
A |
G |
3: 103,492,946 (GRCm39) |
E66G |
probably damaging |
Het |
| Tas2r129 |
A |
G |
6: 132,928,317 (GRCm39) |
I85V |
probably benign |
Het |
| Tent5a |
A |
G |
9: 85,207,100 (GRCm39) |
S233P |
probably damaging |
Het |
| Tprn |
T |
C |
2: 25,158,904 (GRCm39) |
S643P |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 188,285,473 (GRCm39) |
T2003I |
possibly damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,576,335 (GRCm39) |
V402E |
probably damaging |
Het |
| Vmn2r3 |
C |
G |
3: 64,182,692 (GRCm39) |
G336R |
probably damaging |
Het |
| Wdr89 |
A |
T |
12: 75,679,521 (GRCm39) |
D244E |
probably 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 |
|
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 |
|
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'- ACACAGGGACTCCATGCTAC -3'
(R):5'- ATACAGTGTAGCCATGGACCCC -3'
Sequencing Primer
(F):5'- ACAGGGACTCCATGCTACTTCTC -3'
(R):5'- TCCAGGCAATATCATGTGGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation