Incidental Mutation 'R7445:Camta1'
| ID |
577215 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camta1
|
| Ensembl Gene |
ENSMUSG00000014592 |
| Gene Name |
calmodulin binding transcription activator 1 |
| Synonyms |
2310058O09Rik, 1810059M14Rik |
| MMRRC Submission |
045521-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.551)
|
| Stock # |
R7445 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
151143980-151946225 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 151228748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 695
(E695K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054804
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049790]
[ENSMUST00000097774]
[ENSMUST00000169423]
|
| AlphaFold |
A2A891 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049790
AA Change: E695K
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592
AA Change: E695K
| Domain | Start | End | E-Value | Type |
|---|
|
CG-1
|
67 |
183 |
1.39e-91 |
SMART |
|
low complexity region
|
550 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
677 |
688 |
N/A |
INTRINSIC |
|
Pfam:TIG
|
874 |
954 |
3e-13 |
PFAM |
|
low complexity region
|
997 |
1030 |
N/A |
INTRINSIC |
|
ANK
|
1066 |
1095 |
1.7e2 |
SMART |
|
ANK
|
1111 |
1141 |
4.73e2 |
SMART |
|
low complexity region
|
1301 |
1319 |
N/A |
INTRINSIC |
|
IQ
|
1548 |
1564 |
2.38e2 |
SMART |
|
IQ
|
1578 |
1600 |
5.42e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097774
AA Change: E695K
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592
AA Change: E695K
| Domain | Start | End | E-Value | Type |
|---|
|
CG-1
|
67 |
183 |
1.39e-91 |
SMART |
|
low complexity region
|
550 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
677 |
688 |
N/A |
INTRINSIC |
|
Pfam:TIG
|
874 |
954 |
3.1e-11 |
PFAM |
|
low complexity region
|
997 |
1030 |
N/A |
INTRINSIC |
|
ANK
|
1066 |
1095 |
1.7e2 |
SMART |
|
ANK
|
1111 |
1141 |
4.73e2 |
SMART |
|
low complexity region
|
1301 |
1319 |
N/A |
INTRINSIC |
|
IQ
|
1548 |
1570 |
5.45e1 |
SMART |
|
IQ
|
1571 |
1593 |
5.42e0 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169423
AA Change: E695K
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592
AA Change: E695K
| Domain | Start | End | E-Value | Type |
|---|
|
CG-1
|
67 |
183 |
1.39e-91 |
SMART |
|
low complexity region
|
550 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
677 |
688 |
N/A |
INTRINSIC |
|
Pfam:TIG
|
874 |
954 |
3.1e-11 |
PFAM |
|
low complexity region
|
997 |
1030 |
N/A |
INTRINSIC |
|
ANK
|
1066 |
1095 |
1.7e2 |
SMART |
|
ANK
|
1111 |
1141 |
4.73e2 |
SMART |
|
low complexity region
|
1301 |
1319 |
N/A |
INTRINSIC |
|
IQ
|
1548 |
1564 |
2.38e2 |
SMART |
|
IQ
|
1578 |
1600 |
5.42e0 |
SMART |
|
| Meta Mutation Damage Score |
0.0718 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (67/67) |
| MGI Phenotype |
PHENOTYPE: Global or nervous system deletion of this gene results in decreased body size, severe ataxia, progressive Purkinje cell degeneration, and cerebellar atrophy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 64,055,962 (GRCm39) |
S233T |
probably damaging |
Het |
| 1700034E13Rik |
T |
A |
18: 52,793,553 (GRCm39) |
C29S |
probably damaging |
Het |
| Acsbg3 |
G |
A |
17: 57,189,973 (GRCm39) |
R333Q |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,827,954 (GRCm39) |
T2208A |
|
Het |
| Ap4s1 |
T |
C |
12: 51,785,424 (GRCm39) |
L132P |
probably damaging |
Het |
| Ascl4 |
C |
T |
10: 85,764,364 (GRCm39) |
R4C |
probably benign |
Het |
| Brd7 |
A |
T |
8: 89,088,336 (GRCm39) |
Y18N |
probably damaging |
Het |
| Cacna2d3 |
A |
G |
14: 28,780,575 (GRCm39) |
S648P |
possibly damaging |
Het |
| Ccdc28b |
A |
G |
4: 129,516,400 (GRCm39) |
F53L |
probably benign |
Het |
| Chaf1a |
A |
G |
17: 56,369,170 (GRCm39) |
D467G |
possibly damaging |
Het |
| Cnnm1 |
G |
A |
19: 43,429,260 (GRCm39) |
R126H |
possibly damaging |
Het |
| Cog5 |
T |
G |
12: 31,969,671 (GRCm39) |
S730R |
possibly damaging |
Het |
| Col11a1 |
A |
T |
3: 113,987,578 (GRCm39) |
E1374D |
unknown |
Het |
| Csmd1 |
A |
G |
8: 16,208,268 (GRCm39) |
I1229T |
possibly damaging |
Het |
| Degs1l |
A |
G |
1: 180,882,577 (GRCm39) |
N113S |
possibly damaging |
Het |
| Dnajc30 |
T |
C |
5: 135,093,232 (GRCm39) |
L43P |
probably damaging |
Het |
| Eif3f |
C |
T |
7: 108,533,865 (GRCm39) |
T76M |
unknown |
Het |
| Ermap |
G |
A |
4: 119,045,907 (GRCm39) |
T42I |
unknown |
Het |
| Gpd1l |
C |
T |
9: 114,749,742 (GRCm39) |
G25S |
probably damaging |
Het |
| Heatr1 |
G |
T |
13: 12,445,919 (GRCm39) |
W1632L |
possibly damaging |
Het |
| Ice1 |
T |
C |
13: 70,744,286 (GRCm39) |
D29G |
|
Het |
| Ipo8 |
T |
C |
6: 148,691,315 (GRCm39) |
D685G |
probably benign |
Het |
| Klra10 |
T |
C |
6: 130,252,819 (GRCm39) |
T152A |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,375,693 (GRCm39) |
S82C |
probably damaging |
Het |
| Maip1 |
T |
C |
1: 57,446,190 (GRCm39) |
S87P |
possibly damaging |
Het |
| Mapkapk2 |
A |
G |
1: 131,025,256 (GRCm39) |
S3P |
unknown |
Het |
| Mei4 |
A |
G |
9: 81,772,292 (GRCm39) |
Y35C |
possibly damaging |
Het |
| Ms4a14 |
T |
G |
19: 11,280,336 (GRCm39) |
K741Q |
probably benign |
Het |
| Mtcl3 |
T |
C |
10: 29,072,999 (GRCm39) |
S764P |
possibly damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Ncapg2 |
A |
G |
12: 116,382,888 (GRCm39) |
I240V |
possibly damaging |
Het |
| Ncbp1 |
T |
A |
4: 46,149,914 (GRCm39) |
M145K |
probably damaging |
Het |
| Nmur2 |
A |
G |
11: 55,923,766 (GRCm39) |
F263L |
probably damaging |
Het |
| Ntrk2 |
A |
G |
13: 58,994,576 (GRCm39) |
E164G |
probably benign |
Het |
| Or2ag1 |
A |
G |
7: 106,472,549 (GRCm39) |
L301S |
possibly damaging |
Het |
| Or4c58 |
T |
A |
2: 89,674,616 (GRCm39) |
T234S |
probably damaging |
Het |
| Or6c5b |
A |
T |
10: 129,245,754 (GRCm39) |
D173V |
probably benign |
Het |
| P3h2 |
T |
A |
16: 25,803,815 (GRCm39) |
Y317F |
probably damaging |
Het |
| Pcmtd1 |
C |
T |
1: 7,190,644 (GRCm39) |
R38C |
probably damaging |
Het |
| Pcyox1 |
T |
C |
6: 86,368,661 (GRCm39) |
T286A |
possibly damaging |
Het |
| Pdxk |
T |
C |
10: 78,283,801 (GRCm39) |
D131G |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,906,932 (GRCm39) |
D1121G |
probably damaging |
Het |
| Prkra |
T |
C |
2: 76,463,942 (GRCm39) |
D240G |
probably benign |
Het |
| Ptgs1 |
C |
A |
2: 36,135,222 (GRCm39) |
N395K |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,426,820 (GRCm39) |
Y1572N |
probably damaging |
Het |
| Pyroxd1 |
A |
T |
6: 142,304,227 (GRCm39) |
H326L |
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,719,704 (GRCm39) |
D778G |
probably benign |
Het |
| Rbm46 |
T |
A |
3: 82,771,517 (GRCm39) |
E366V |
probably damaging |
Het |
| Rnd1 |
G |
T |
15: 98,568,550 (GRCm39) |
H209Q |
probably benign |
Het |
| Rnf122 |
A |
T |
8: 31,608,528 (GRCm39) |
D32V |
possibly damaging |
Het |
| Samd4b |
G |
A |
7: 28,105,881 (GRCm39) |
P446S |
probably benign |
Het |
| Slco1a5 |
C |
A |
6: 142,204,734 (GRCm39) |
A187S |
possibly damaging |
Het |
| Smarca4 |
G |
A |
9: 21,597,543 (GRCm39) |
V1436M |
probably damaging |
Het |
| Smok2a |
G |
A |
17: 13,445,526 (GRCm39) |
G368R |
possibly damaging |
Het |
| Smok3c |
T |
A |
5: 138,062,757 (GRCm39) |
H81Q |
probably damaging |
Het |
| Stk16 |
T |
C |
1: 75,190,296 (GRCm39) |
V245A |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,094,122 (GRCm39) |
N1505K |
possibly damaging |
Het |
| Tigd4 |
G |
A |
3: 84,502,471 (GRCm39) |
A463T |
probably benign |
Het |
| Tmem117 |
T |
C |
15: 94,612,799 (GRCm39) |
F112L |
probably benign |
Het |
| Tmem72 |
A |
G |
6: 116,675,291 (GRCm39) |
I67T |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,718,058 (GRCm39) |
|
probably null |
Het |
| Trav14-2 |
A |
G |
14: 53,878,515 (GRCm39) |
Q66R |
probably damaging |
Het |
| Trpv6 |
T |
A |
6: 41,598,276 (GRCm39) |
D677V |
probably damaging |
Het |
| Vgll4 |
C |
T |
6: 114,839,157 (GRCm39) |
S278N |
unknown |
Het |
| Wdfy4 |
C |
T |
14: 32,792,575 (GRCm39) |
W2157* |
probably null |
Het |
|
| Other mutations in Camta1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00552:Camta1
|
APN |
4 |
151,155,881 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00823:Camta1
|
APN |
4 |
151,169,058 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01361:Camta1
|
APN |
4 |
151,229,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01523:Camta1
|
APN |
4 |
151,229,507 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01730:Camta1
|
APN |
4 |
151,147,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02045:Camta1
|
APN |
4 |
151,158,442 (GRCm39) |
splice site |
probably null |
|
|
IGL02541:Camta1
|
APN |
4 |
151,169,112 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02839:Camta1
|
APN |
4 |
151,228,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03012:Camta1
|
APN |
4 |
151,537,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Bonus
|
UTSW |
4 |
151,222,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB010:Camta1
|
UTSW |
4 |
151,168,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB020:Camta1
|
UTSW |
4 |
151,168,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4449001:Camta1
|
UTSW |
4 |
151,216,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0136:Camta1
|
UTSW |
4 |
151,163,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0239:Camta1
|
UTSW |
4 |
151,228,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Camta1
|
UTSW |
4 |
151,228,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0346:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0347:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0348:Camta1
|
UTSW |
4 |
151,670,888 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0385:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0386:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0388:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0410:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0456:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0478:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0683:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0724:Camta1
|
UTSW |
4 |
151,162,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0732:Camta1
|
UTSW |
4 |
151,670,941 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1549:Camta1
|
UTSW |
4 |
151,670,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1670:Camta1
|
UTSW |
4 |
151,164,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1704:Camta1
|
UTSW |
4 |
151,159,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1718:Camta1
|
UTSW |
4 |
151,168,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1941:Camta1
|
UTSW |
4 |
151,159,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1967:Camta1
|
UTSW |
4 |
151,173,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1998:Camta1
|
UTSW |
4 |
151,162,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2081:Camta1
|
UTSW |
4 |
151,228,699 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2104:Camta1
|
UTSW |
4 |
151,537,751 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2240:Camta1
|
UTSW |
4 |
151,169,032 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4516:Camta1
|
UTSW |
4 |
151,229,177 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4539:Camta1
|
UTSW |
4 |
151,169,269 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4552:Camta1
|
UTSW |
4 |
151,876,959 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4610:Camta1
|
UTSW |
4 |
151,169,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4658:Camta1
|
UTSW |
4 |
151,228,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4725:Camta1
|
UTSW |
4 |
151,232,953 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4786:Camta1
|
UTSW |
4 |
151,374,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4812:Camta1
|
UTSW |
4 |
151,215,999 (GRCm39) |
missense |
probably null |
0.25 |
|
R4840:Camta1
|
UTSW |
4 |
151,228,864 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5038:Camta1
|
UTSW |
4 |
151,229,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Camta1
|
UTSW |
4 |
151,158,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5251:Camta1
|
UTSW |
4 |
151,248,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5388:Camta1
|
UTSW |
4 |
151,159,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5487:Camta1
|
UTSW |
4 |
151,229,211 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6343:Camta1
|
UTSW |
4 |
151,164,306 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6462:Camta1
|
UTSW |
4 |
151,170,621 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6550:Camta1
|
UTSW |
4 |
151,222,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6990:Camta1
|
UTSW |
4 |
151,229,501 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7165:Camta1
|
UTSW |
4 |
151,169,157 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7190:Camta1
|
UTSW |
4 |
151,232,980 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7215:Camta1
|
UTSW |
4 |
151,229,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7264:Camta1
|
UTSW |
4 |
151,537,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7403:Camta1
|
UTSW |
4 |
151,537,752 (GRCm39) |
nonsense |
probably null |
|
|
R7447:Camta1
|
UTSW |
4 |
151,168,327 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7585:Camta1
|
UTSW |
4 |
151,229,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Camta1
|
UTSW |
4 |
151,232,863 (GRCm39) |
splice site |
probably null |
|
|
R7881:Camta1
|
UTSW |
4 |
151,920,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7933:Camta1
|
UTSW |
4 |
151,168,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7960:Camta1
|
UTSW |
4 |
151,232,990 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8057:Camta1
|
UTSW |
4 |
151,228,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8073:Camta1
|
UTSW |
4 |
151,163,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8241:Camta1
|
UTSW |
4 |
151,168,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8247:Camta1
|
UTSW |
4 |
151,159,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8466:Camta1
|
UTSW |
4 |
151,170,577 (GRCm39) |
nonsense |
probably null |
|
|
R9035:Camta1
|
UTSW |
4 |
151,229,159 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9332:Camta1
|
UTSW |
4 |
151,228,474 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9358:Camta1
|
UTSW |
4 |
151,222,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9626:Camta1
|
UTSW |
4 |
151,168,287 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9649:Camta1
|
UTSW |
4 |
151,216,004 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
X0063:Camta1
|
UTSW |
4 |
151,229,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Camta1
|
UTSW |
4 |
151,228,842 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1177:Camta1
|
UTSW |
4 |
151,162,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTGAGCTCCATGTTAGAG -3'
(R):5'- TTGAGCAGAATACCCACAGCAG -3'
Sequencing Primer
(F):5'- CCATGTTAGAGCTGTTGCCCAG -3'
(R):5'- CAGCAGCCTAAGCGAGTCAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation