Incidental Mutation 'R8339:Camsap1'
ID |
644786 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camsap1
|
Ensembl Gene |
ENSMUSG00000026933 |
Gene Name |
calmodulin regulated spectrin-associated protein 1 |
Synonyms |
9530003A05Rik, PRO2405 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.272)
|
Stock # |
R8339 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
25816850-25873294 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25872817 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 45
(I45T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109804
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091268]
[ENSMUST00000114167]
[ENSMUST00000127823]
[ENSMUST00000134882]
[ENSMUST00000139937]
[ENSMUST00000183461]
|
AlphaFold |
A2AHC3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091268
AA Change: I45T
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000088812 Gene: ENSMUSG00000026933 AA Change: I45T
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: I45T
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000109804 Gene: ENSMUSG00000026933 AA Change: I45T
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: ENSMUST00000127823
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134882
AA Change: I45T
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117203 Gene: ENSMUSG00000026933 AA Change: I45T
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 |
possibly damaging
Transcript: ENSMUST00000139937
AA Change: I45T
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183461
AA Change: I45T
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000139028 Gene: ENSMUSG00000026933 AA Change: I45T
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(4) : Targeted, other(2) Gene trapped(2) |
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,324,831 (GRCm39) |
F1549S |
probably damaging |
Het |
Ablim1 |
T |
C |
19: 57,032,281 (GRCm39) |
E710G |
probably benign |
Het |
Adam34 |
A |
T |
8: 44,103,640 (GRCm39) |
H668Q |
probably benign |
Het |
Asphd2 |
A |
T |
5: 112,539,501 (GRCm39) |
Y111N |
possibly damaging |
Het |
Ccdc88c |
A |
T |
12: 100,907,399 (GRCm39) |
L984* |
probably null |
Het |
Ccr1 |
T |
G |
9: 123,763,763 (GRCm39) |
N256H |
probably damaging |
Het |
Cep295 |
A |
T |
9: 15,236,846 (GRCm39) |
D254E |
|
Het |
Cfhr4 |
T |
A |
1: 139,660,157 (GRCm39) |
E656V |
probably damaging |
Het |
Cmya5 |
G |
T |
13: 93,228,142 (GRCm39) |
Y2315* |
probably null |
Het |
Cspp1 |
G |
T |
1: 10,183,892 (GRCm39) |
R839I |
probably damaging |
Het |
Dbn1 |
A |
T |
13: 55,629,982 (GRCm39) |
D153E |
probably benign |
Het |
Dnah7a |
G |
T |
1: 53,724,178 (GRCm39) |
L96I |
probably benign |
Het |
G6pc1 |
A |
G |
11: 101,267,314 (GRCm39) |
T255A |
possibly damaging |
Het |
Heatr5a |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
12: 51,934,702 (GRCm39) |
|
probably benign |
Het |
Il12a |
T |
A |
3: 68,599,438 (GRCm39) |
C33* |
probably null |
Het |
Iqce |
T |
C |
5: 140,660,093 (GRCm39) |
E555G |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,214,396 (GRCm39) |
M1484V |
probably benign |
Het |
Klc2 |
A |
G |
19: 5,159,562 (GRCm39) |
S518P |
probably benign |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Or2b7 |
A |
T |
13: 21,739,996 (GRCm39) |
N65K |
probably damaging |
Het |
Or8b47 |
T |
C |
9: 38,435,717 (GRCm39) |
S230P |
probably damaging |
Het |
Or9g4b |
C |
A |
2: 85,615,876 (GRCm39) |
T7N |
probably damaging |
Het |
Otogl |
T |
A |
10: 107,625,396 (GRCm39) |
I1516F |
probably damaging |
Het |
Otogl |
G |
T |
10: 107,625,397 (GRCm39) |
S1515R |
probably benign |
Het |
Pacs1 |
A |
T |
19: 5,192,651 (GRCm39) |
V627E |
probably damaging |
Het |
Ptprb |
A |
C |
10: 116,119,356 (GRCm39) |
R163S |
probably benign |
Het |
Ralgps2 |
G |
T |
1: 156,649,008 (GRCm39) |
P432Q |
probably null |
Het |
Rgl3 |
T |
C |
9: 21,898,825 (GRCm39) |
T205A |
probably benign |
Het |
Rock2 |
G |
T |
12: 17,024,861 (GRCm39) |
W1213L |
probably damaging |
Het |
Satb1 |
T |
A |
17: 52,089,977 (GRCm39) |
H290L |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,116,373 (GRCm39) |
Y422C |
probably damaging |
Het |
Sgcg |
T |
A |
14: 61,469,966 (GRCm39) |
M132L |
probably benign |
Het |
Shank1 |
A |
G |
7: 43,975,589 (GRCm39) |
S478G |
unknown |
Het |
Slc18a1 |
A |
T |
8: 69,518,273 (GRCm39) |
M247K |
possibly damaging |
Het |
Slc37a4 |
A |
G |
9: 44,313,724 (GRCm39) |
I417V |
probably benign |
Het |
Slc9b2 |
A |
G |
3: 135,030,363 (GRCm39) |
M227V |
possibly damaging |
Het |
Tcf20 |
C |
A |
15: 82,736,877 (GRCm39) |
V1525L |
probably benign |
Het |
Tril |
G |
A |
6: 53,794,918 (GRCm39) |
T768I |
possibly damaging |
Het |
Xxylt1 |
T |
C |
16: 30,899,858 (GRCm39) |
H99R |
possibly damaging |
Het |
Zfp653 |
T |
C |
9: 21,969,213 (GRCm39) |
E351G |
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 |
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 |
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'- TAGTCCGACCCCAGTTCTG -3'
(R):5'- ACAGGTACGGAGCCTTCAGG -3'
Sequencing Primer
(F):5'- GACCCCAGTTCTGGTCCCATAC -3'
(R):5'- GTTAGCTCCCACCCGTTGG -3'
|
Posted On |
2020-09-02 |