Incidental Mutation 'R8133:Camsap1'
ID |
632100 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camsap1
|
Ensembl Gene |
ENSMUSG00000026933 |
Gene Name |
calmodulin regulated spectrin-associated protein 1 |
Synonyms |
9530003A05Rik, PRO2405 |
MMRRC Submission |
067561-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.272)
|
Stock # |
R8133 (G1)
|
Quality Score |
180.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
25816850-25873294 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25824309 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 1417
(N1417S)
|
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: N1417S
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000088812 Gene: ENSMUSG00000026933 AA Change: N1417S
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: N1417S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000109804 Gene: ENSMUSG00000026933 AA Change: N1417S
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
|
SMART Domains |
Protein: ENSMUSP00000117203 Gene: ENSMUSG00000026933
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: ENSMUST00000143977
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183461
AA Change: N1417S
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000139028 Gene: ENSMUSG00000026933 AA Change: N1417S
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: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 96.3%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
All alleles(4) : Targeted, other(2) Gene trapped(2) |
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
T |
11: 110,018,289 (GRCm39) |
S1110R |
possibly damaging |
Het |
Adam15 |
C |
T |
3: 89,254,513 (GRCm39) |
R123Q |
probably benign |
Het |
AI987944 |
A |
G |
7: 41,024,489 (GRCm39) |
|
probably null |
Het |
Ankrd31 |
T |
C |
13: 97,003,003 (GRCm39) |
|
probably null |
Het |
Arfgef3 |
C |
A |
10: 18,486,951 (GRCm39) |
|
probably null |
Het |
Atp6v0c |
C |
T |
17: 24,383,553 (GRCm39) |
S98N |
possibly damaging |
Het |
Cct7 |
T |
C |
6: 85,438,045 (GRCm39) |
S96P |
probably damaging |
Het |
Cd200l1 |
T |
C |
16: 45,264,304 (GRCm39) |
T85A |
probably benign |
Het |
Cd38 |
C |
A |
5: 44,058,790 (GRCm39) |
L135M |
probably damaging |
Het |
Cib4 |
T |
C |
5: 30,691,562 (GRCm39) |
D53G |
probably benign |
Het |
Cntn6 |
T |
A |
6: 104,705,298 (GRCm39) |
S244T |
probably benign |
Het |
Cubn |
G |
T |
2: 13,393,659 (GRCm39) |
D1447E |
probably damaging |
Het |
Ebf3 |
T |
C |
7: 136,914,872 (GRCm39) |
E102G |
probably damaging |
Het |
Elmo1 |
T |
A |
13: 20,557,256 (GRCm39) |
V399E |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,811,082 (GRCm39) |
E1423G |
possibly damaging |
Het |
Glis3 |
A |
G |
19: 28,327,406 (GRCm39) |
S669P |
probably benign |
Het |
Hipk1 |
T |
C |
3: 103,660,710 (GRCm39) |
T742A |
possibly damaging |
Het |
Igdcc4 |
C |
A |
9: 65,039,023 (GRCm39) |
T890N |
possibly damaging |
Het |
Jcad |
C |
T |
18: 4,649,384 (GRCm39) |
T85I |
probably benign |
Het |
Kmt2d |
T |
C |
15: 98,762,823 (GRCm39) |
K316E |
probably damaging |
Het |
Lrig1 |
T |
C |
6: 94,588,610 (GRCm39) |
D513G |
possibly damaging |
Het |
Lrrn4 |
T |
C |
2: 132,719,934 (GRCm39) |
N289D |
probably damaging |
Het |
Mcf2l |
A |
G |
8: 13,061,487 (GRCm39) |
M829V |
probably damaging |
Het |
Mib2 |
C |
T |
4: 155,741,458 (GRCm39) |
R495H |
probably benign |
Het |
Nqo2 |
T |
C |
13: 34,169,461 (GRCm39) |
Y228H |
probably benign |
Het |
Nrg2 |
T |
A |
18: 36,165,430 (GRCm39) |
E394V |
probably benign |
Het |
Oas1e |
T |
C |
5: 120,926,060 (GRCm39) |
N336S |
probably benign |
Het |
Obi1 |
G |
T |
14: 104,716,681 (GRCm39) |
S564* |
probably null |
Het |
Or51i2 |
G |
T |
7: 103,689,122 (GRCm39) |
G40W |
probably benign |
Het |
Or52b4i |
T |
A |
7: 102,192,065 (GRCm39) |
H307Q |
probably benign |
Het |
Or5b95 |
T |
G |
19: 12,657,844 (GRCm39) |
V124G |
probably damaging |
Het |
Pax4 |
T |
C |
6: 28,442,513 (GRCm39) |
D305G |
probably benign |
Het |
Pcdhb16 |
T |
A |
18: 37,611,185 (GRCm39) |
N48K |
probably damaging |
Het |
Pcdhb20 |
G |
T |
18: 37,639,663 (GRCm39) |
E730* |
probably null |
Het |
Pde4a |
A |
T |
9: 21,102,673 (GRCm39) |
D119V |
possibly damaging |
Het |
Pgam1 |
T |
C |
19: 41,904,149 (GRCm39) |
V82A |
probably benign |
Het |
Phf11a |
C |
T |
14: 59,521,773 (GRCm39) |
G133S |
probably damaging |
Het |
Phlpp1 |
TGCGCGCGCGC |
TGCGCGCGC |
1: 106,100,522 (GRCm39) |
|
probably null |
Het |
Piwil1 |
T |
C |
5: 128,826,914 (GRCm39) |
V558A |
probably damaging |
Het |
Prpf40b |
T |
C |
15: 99,202,319 (GRCm39) |
V59A |
unknown |
Het |
Psd4 |
T |
A |
2: 24,286,701 (GRCm39) |
S353T |
probably benign |
Het |
Ryr2 |
A |
T |
13: 11,618,584 (GRCm39) |
L3877H |
probably damaging |
Het |
S100a2 |
T |
C |
3: 90,498,616 (GRCm39) |
V39A |
possibly damaging |
Het |
Tanc2 |
T |
A |
11: 105,814,048 (GRCm39) |
S1831T |
probably damaging |
Het |
Zfhx4 |
A |
G |
3: 5,465,554 (GRCm39) |
K1904R |
probably damaging |
Het |
Zfp141 |
A |
G |
7: 42,124,481 (GRCm39) |
C664R |
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 |
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 |
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'- GCCAGCAGTTAGAGATAGCTC -3'
(R):5'- GCAGTGGTTGACAAAGGCTC -3'
Sequencing Primer
(F):5'- TCTATACCCAAGTGCCTC -3'
(R):5'- GTGGTTGACAAAGGCTCACCAAATC -3'
|
Posted On |
2020-06-30 |