Incidental Mutation 'R6043:Camsap1'
ID |
483645 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camsap1
|
Ensembl Gene |
ENSMUSG00000026933 |
Gene Name |
calmodulin regulated spectrin-associated protein 1 |
Synonyms |
9530003A05Rik, PRO2405 |
MMRRC Submission |
044211-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.272)
|
Stock # |
R6043 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
25816850-25873294 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25819937 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1516
(Y1516C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139028
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091268]
[ENSMUST00000114167]
[ENSMUST00000183461]
|
AlphaFold |
A2AHC3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000091268
AA Change: Y1516C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000088812 Gene: ENSMUSG00000026933 AA Change: Y1516C
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 benign
Transcript: ENSMUST00000114167
AA Change: Y1517C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000109804 Gene: ENSMUSG00000026933 AA Change: Y1517C
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 benign
Transcript: ENSMUST00000183461
AA Change: Y1516C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000139028 Gene: ENSMUSG00000026933 AA Change: Y1516C
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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(4) : Targeted, other(2) Gene trapped(2) |
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts4 |
T |
C |
1: 171,080,170 (GRCm39) |
F44S |
probably damaging |
Het |
Ap3b1 |
A |
T |
13: 94,613,501 (GRCm39) |
T667S |
probably benign |
Het |
Ccl17 |
A |
G |
8: 95,537,100 (GRCm39) |
M1V |
probably null |
Het |
Cfhr1 |
T |
A |
1: 139,478,606 (GRCm39) |
T255S |
probably benign |
Het |
Clcn6 |
T |
C |
4: 148,093,245 (GRCm39) |
N812D |
probably damaging |
Het |
Cyp2b10 |
T |
C |
7: 25,616,764 (GRCm39) |
F402L |
probably damaging |
Het |
Dgkz |
A |
C |
2: 91,766,234 (GRCm39) |
S776A |
probably benign |
Het |
Dnaaf2 |
A |
T |
12: 69,244,122 (GRCm39) |
L313Q |
probably damaging |
Het |
Dnah10 |
G |
A |
5: 124,878,924 (GRCm39) |
G2728S |
probably damaging |
Het |
Dnah7b |
T |
A |
1: 46,178,949 (GRCm39) |
M874K |
probably benign |
Het |
Eef1akmt3 |
A |
T |
10: 126,869,147 (GRCm39) |
L109Q |
probably damaging |
Het |
Egf |
A |
G |
3: 129,530,434 (GRCm39) |
S243P |
probably benign |
Het |
Fbxw21 |
T |
C |
9: 108,974,607 (GRCm39) |
I304M |
possibly damaging |
Het |
Fcgr4 |
T |
C |
1: 170,847,699 (GRCm39) |
V99A |
probably damaging |
Het |
Fhdc1 |
T |
C |
3: 84,356,193 (GRCm39) |
E417G |
probably damaging |
Het |
Flnc |
G |
T |
6: 29,446,607 (GRCm39) |
G939V |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,315,436 (GRCm39) |
M1173V |
probably benign |
Het |
Hspa2 |
C |
T |
12: 76,453,096 (GRCm39) |
H597Y |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,870,212 (GRCm39) |
T64I |
probably benign |
Het |
Kif16b |
A |
G |
2: 142,553,820 (GRCm39) |
S993P |
probably damaging |
Het |
Kitl |
T |
A |
10: 99,899,947 (GRCm39) |
V84E |
probably damaging |
Het |
Klra17 |
A |
G |
6: 129,849,150 (GRCm39) |
|
probably null |
Het |
Map2k3 |
A |
G |
11: 60,837,572 (GRCm39) |
D224G |
probably benign |
Het |
Medag |
T |
G |
5: 149,345,672 (GRCm39) |
F4V |
probably benign |
Het |
Mob3b |
C |
T |
4: 34,985,993 (GRCm39) |
V182I |
probably benign |
Het |
Mvb12b |
G |
T |
2: 33,764,402 (GRCm39) |
T49K |
probably damaging |
Het |
Naaladl2 |
A |
G |
3: 24,112,378 (GRCm39) |
V568A |
possibly damaging |
Het |
Nbea |
T |
C |
3: 55,693,896 (GRCm39) |
E2174G |
probably benign |
Het |
Nmd3 |
T |
C |
3: 69,652,580 (GRCm39) |
Y389H |
probably benign |
Het |
Or13g1 |
A |
G |
7: 85,955,547 (GRCm39) |
I258T |
probably damaging |
Het |
Or4p19 |
C |
T |
2: 88,242,589 (GRCm39) |
E138K |
probably benign |
Het |
Pcare |
T |
C |
17: 72,057,037 (GRCm39) |
D880G |
probably damaging |
Het |
Pcdh1 |
T |
A |
18: 38,336,327 (GRCm39) |
N103Y |
probably damaging |
Het |
Pcm1 |
A |
G |
8: 41,781,815 (GRCm39) |
D1905G |
possibly damaging |
Het |
Plcd1 |
A |
G |
9: 118,901,667 (GRCm39) |
F619S |
probably damaging |
Het |
Ptdss1 |
T |
A |
13: 67,111,433 (GRCm39) |
D166E |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,332,927 (GRCm39) |
V2713A |
probably damaging |
Het |
Sema4f |
T |
C |
6: 82,896,634 (GRCm39) |
N200D |
probably damaging |
Het |
Tjp1 |
A |
T |
7: 64,973,837 (GRCm39) |
N472K |
probably damaging |
Het |
Trav6n-5 |
T |
C |
14: 53,342,608 (GRCm39) |
Y49H |
probably benign |
Het |
Trbv2 |
A |
G |
6: 41,024,904 (GRCm39) |
T107A |
probably benign |
Het |
Unc13c |
T |
C |
9: 73,643,933 (GRCm39) |
N1177S |
possibly damaging |
Het |
Vmn1r212 |
A |
G |
13: 23,068,258 (GRCm39) |
V25A |
probably damaging |
Het |
Zfhx4 |
T |
G |
3: 5,468,487 (GRCm39) |
S2882A |
probably benign |
Het |
Zswim5 |
A |
C |
4: 116,819,818 (GRCm39) |
S408R |
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 |
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 |
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'- GTTGCCATGGTCACTTACGAG -3'
(R):5'- TGGAACAATACCTACCCATTGGAC -3'
Sequencing Primer
(F):5'- CCATGGTCACTTACGAGTCTGG -3'
(R):5'- TTGGACAACAATGGGAATCTAGG -3'
|
Posted On |
2017-07-14 |