Incidental Mutation 'R5105:Camsap1'
| ID |
401965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camsap1
|
| Ensembl Gene |
ENSMUSG00000026933 |
| Gene Name |
calmodulin regulated spectrin-associated protein 1 |
| Synonyms |
9530003A05Rik, PRO2405 |
| MMRRC Submission |
042693-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.369)
|
| Stock # |
R5105 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25926838-25983282 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25940929 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 445
(S445P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091268]
[ENSMUST00000114167]
[ENSMUST00000134882]
[ENSMUST00000183461]
|
| AlphaFold |
A2AHC3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091268
AA Change: S445P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: S445P
| 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: S445P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: S445P
| 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 |
possibly damaging
Transcript: ENSMUST00000134882
AA Change: S465P
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117203
Gene: ENSMUSG00000026933
AA Change: S465P
| 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 damaging
Transcript: ENSMUST00000183461
AA Change: S445P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: S445P
| 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 |
|
| Meta Mutation Damage Score |
0.1446 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
96% (52/54) |
| Allele List at MGI |
All alleles(4) : Targeted, other(2) Gene trapped(2) |
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830010M20Rik |
T |
G |
5: 107,510,471 (GRCm38) |
S1124A |
possibly damaging |
Het |
| Ccdc92 |
G |
A |
5: 124,835,794 (GRCm38) |
P224S |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,594,092 (GRCm38) |
V125A |
probably benign |
Het |
| Cep192 |
T |
A |
18: 67,866,541 (GRCm38) |
C2159S |
probably benign |
Het |
| Col1a1 |
G |
T |
11: 94,942,385 (GRCm38) |
R404L |
unknown |
Het |
| Col6a3 |
A |
T |
1: 90,798,140 (GRCm38) |
M1382K |
possibly damaging |
Het |
| Cyp4a12b |
T |
C |
4: 115,433,761 (GRCm38) |
S329P |
probably damaging |
Het |
| Dclk1 |
T |
G |
3: 55,255,939 (GRCm38) |
S151A |
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,657,407 (GRCm38) |
V202E |
probably benign |
Het |
| Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm38) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,811,482 (GRCm38) |
E3050G |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,617,932 (GRCm38) |
F590I |
probably damaging |
Het |
| Eif4b |
T |
C |
15: 102,084,196 (GRCm38) |
Y63H |
probably benign |
Het |
| Fscb |
T |
C |
12: 64,473,336 (GRCm38) |
E452G |
possibly damaging |
Het |
| Gpx3 |
A |
T |
11: 54,907,154 (GRCm38) |
T39S |
possibly damaging |
Het |
| Grin2b |
T |
A |
6: 135,732,441 (GRCm38) |
Y1369F |
probably benign |
Het |
| Kank4 |
A |
T |
4: 98,779,159 (GRCm38) |
N350K |
probably benign |
Het |
| Kdm5d |
A |
G |
Y: 941,752 (GRCm38) |
K1318E |
probably benign |
Het |
| Large1 |
A |
T |
8: 72,852,244 (GRCm38) |
Y444* |
probably null |
Het |
| Lhx3 |
TCCTACGGGCCGGCCC |
TCC |
2: 26,201,423 (GRCm38) |
|
probably null |
Het |
| Lrrc47 |
A |
G |
4: 154,012,216 (GRCm38) |
Q156R |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,650,483 (GRCm38) |
L220P |
probably damaging |
Het |
| Matn2 |
A |
G |
15: 34,355,668 (GRCm38) |
D273G |
possibly damaging |
Het |
| Myo18b |
T |
A |
5: 112,840,778 (GRCm38) |
I981F |
probably damaging |
Het |
| Olfr1110 |
A |
G |
2: 87,136,210 (GRCm38) |
I37T |
probably benign |
Het |
| Olfr135 |
A |
C |
17: 38,208,317 (GRCm38) |
E24A |
possibly damaging |
Het |
| Olfr357 |
G |
A |
2: 36,997,457 (GRCm38) |
|
probably null |
Het |
| Olfr524 |
A |
G |
7: 140,202,549 (GRCm38) |
Y74H |
probably damaging |
Het |
| Olfr974 |
T |
C |
9: 39,942,398 (GRCm38) |
V46A |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,816,384 (GRCm38) |
T1784A |
probably damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,509,422 (GRCm38) |
V422A |
possibly damaging |
Het |
| Rlf |
G |
A |
4: 121,150,367 (GRCm38) |
T472I |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,420,432 (GRCm38) |
E417G |
probably damaging |
Het |
| Shisa2 |
A |
T |
14: 59,629,814 (GRCm38) |
T172S |
possibly damaging |
Het |
| Siglec1 |
T |
A |
2: 131,080,400 (GRCm38) |
Q585L |
possibly damaging |
Het |
| Sorcs1 |
A |
T |
19: 50,225,141 (GRCm38) |
M716K |
possibly damaging |
Het |
| Sparcl1 |
C |
T |
5: 104,085,763 (GRCm38) |
M573I |
probably damaging |
Het |
| Stxbp5l |
C |
A |
16: 37,142,372 (GRCm38) |
V774F |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,591,325 (GRCm38) |
F699S |
probably damaging |
Het |
| Tmem87b |
T |
C |
2: 128,831,589 (GRCm38) |
V251A |
probably damaging |
Het |
| Trpc6 |
T |
A |
9: 8,649,470 (GRCm38) |
N560K |
probably benign |
Het |
| Trpv4 |
T |
A |
5: 114,626,920 (GRCm38) |
I678F |
probably damaging |
Het |
| Ttc3 |
A |
T |
16: 94,466,934 (GRCm38) |
H1935L |
possibly damaging |
Het |
| Vmn2r59 |
T |
A |
7: 42,047,105 (GRCm38) |
Y71F |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 101,855,549 (GRCm38) |
I2900T |
probably damaging |
Het |
| Zfp184 |
A |
G |
13: 21,959,629 (GRCm38) |
T502A |
possibly damaging |
Het |
| Zmym6 |
A |
G |
4: 127,123,758 (GRCm38) |
I1019V |
probably benign |
Het |
|
| Other mutations in Camsap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01324:Camsap1
|
APN |
2 |
25,933,623 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01555:Camsap1
|
APN |
2 |
25,939,393 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL01667:Camsap1
|
APN |
2 |
25,945,281 (GRCm38) |
splice site |
probably benign |
|
|
IGL02167:Camsap1
|
APN |
2 |
25,934,300 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02191:Camsap1
|
APN |
2 |
25,929,880 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02285:Camsap1
|
APN |
2 |
25,929,802 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02393:Camsap1
|
APN |
2 |
25,938,322 (GRCm38) |
missense |
probably benign |
0.10 |
|
3-1:Camsap1
|
UTSW |
2 |
25,945,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0631:Camsap1
|
UTSW |
2 |
25,933,647 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0828:Camsap1
|
UTSW |
2 |
25,939,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1434:Camsap1
|
UTSW |
2 |
25,945,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1687:Camsap1
|
UTSW |
2 |
25,939,615 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2027:Camsap1
|
UTSW |
2 |
25,938,526 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R2048:Camsap1
|
UTSW |
2 |
25,929,743 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3732:Camsap1
|
UTSW |
2 |
25,938,344 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4437:Camsap1
|
UTSW |
2 |
25,938,646 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R4494:Camsap1
|
UTSW |
2 |
25,952,758 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4888:Camsap1
|
UTSW |
2 |
25,935,550 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5028:Camsap1
|
UTSW |
2 |
25,944,556 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5058:Camsap1
|
UTSW |
2 |
25,939,363 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5121:Camsap1
|
UTSW |
2 |
25,935,550 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5153:Camsap1
|
UTSW |
2 |
25,933,618 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5323:Camsap1
|
UTSW |
2 |
25,965,811 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6043:Camsap1
|
UTSW |
2 |
25,929,925 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6479:Camsap1
|
UTSW |
2 |
25,935,862 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R6502:Camsap1
|
UTSW |
2 |
25,956,308 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6571:Camsap1
|
UTSW |
2 |
25,939,500 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7046:Camsap1
|
UTSW |
2 |
25,945,189 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7251:Camsap1
|
UTSW |
2 |
25,938,886 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8026:Camsap1
|
UTSW |
2 |
25,938,202 (GRCm38) |
missense |
probably benign |
0.17 |
|
R8133:Camsap1
|
UTSW |
2 |
25,934,297 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8152:Camsap1
|
UTSW |
2 |
25,940,241 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8158:Camsap1
|
UTSW |
2 |
25,944,428 (GRCm38) |
nonsense |
probably null |
|
|
R8325:Camsap1
|
UTSW |
2 |
25,939,363 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8339:Camsap1
|
UTSW |
2 |
25,982,805 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R9187:Camsap1
|
UTSW |
2 |
25,930,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9379:Camsap1
|
UTSW |
2 |
25,956,306 (GRCm38) |
missense |
|
|
|
R9419:Camsap1
|
UTSW |
2 |
25,955,292 (GRCm38) |
missense |
|
|
|
R9525:Camsap1
|
UTSW |
2 |
25,953,950 (GRCm38) |
missense |
probably benign |
|
|
R9526:Camsap1
|
UTSW |
2 |
25,953,950 (GRCm38) |
missense |
probably benign |
|
|
R9776:Camsap1
|
UTSW |
2 |
25,938,154 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1176:Camsap1
|
UTSW |
2 |
25,940,881 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1176:Camsap1
|
UTSW |
2 |
25,936,639 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCATACAGTCGCTGTGCC -3'
(R):5'- ACGTATTGCAGCTACTGGAAG -3'
Sequencing Primer
(F):5'- CTGTGGTATCACTAGCTGCCAG -3'
(R):5'- CGTATTGCAGCTACTGGAAGTTACAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation