Incidental Mutation 'R0386:Camta1'
ID |
65505 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camta1
|
Ensembl Gene |
ENSMUSG00000014592 |
Gene Name |
calmodulin binding transcription activator 1 |
Synonyms |
2310058O09Rik, 1810059M14Rik |
MMRRC Submission |
038592-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.557)
|
Stock # |
R0386 (G1)
|
Quality Score |
133 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
151143980-151946225 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 151159597 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 1614
(R1614L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095381
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049790]
[ENSMUST00000097774]
[ENSMUST00000105668]
[ENSMUST00000105670]
[ENSMUST00000140030]
[ENSMUST00000169423]
|
AlphaFold |
A2A891 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049790
AA Change: R1621L
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000054804 Gene: ENSMUSG00000014592 AA Change: R1621L
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 damaging
Transcript: ENSMUST00000097774
AA Change: R1614L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095381 Gene: ENSMUSG00000014592 AA Change: R1614L
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 |
probably benign
Transcript: ENSMUST00000105668
AA Change: R530L
PolyPhen 2
Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000101293 Gene: ENSMUSG00000014592 AA Change: R530L
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
52 |
N/A |
INTRINSIC |
ANK
|
88 |
117 |
1.7e2 |
SMART |
ANK
|
133 |
163 |
4.73e2 |
SMART |
Blast:ANK
|
167 |
197 |
6e-10 |
BLAST |
IQ
|
457 |
473 |
2.38e2 |
SMART |
IQ
|
487 |
509 |
5.42e0 |
SMART |
Pfam:IQ
|
512 |
527 |
5.1e-4 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105670
AA Change: R523L
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000101295 Gene: ENSMUSG00000014592 AA Change: R523L
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
52 |
N/A |
INTRINSIC |
ANK
|
88 |
117 |
1.7e2 |
SMART |
ANK
|
133 |
163 |
4.73e2 |
SMART |
Blast:ANK
|
167 |
197 |
5e-10 |
BLAST |
IQ
|
457 |
479 |
5.45e1 |
SMART |
IQ
|
480 |
502 |
5.42e0 |
SMART |
Pfam:IQ
|
505 |
520 |
5.1e-4 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140030
AA Change: R177L
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000119067 Gene: ENSMUSG00000014592 AA Change: R177L
Domain | Start | End | E-Value | Type |
IQ
|
111 |
133 |
5.45e1 |
SMART |
IQ
|
134 |
156 |
5.42e0 |
SMART |
Pfam:IQ
|
159 |
174 |
8.5e-4 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169423
AA Change: R1621L
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000127916 Gene: ENSMUSG00000014592 AA Change: R1621L
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.3%
|
Validation Efficiency |
98% (56/57) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
G |
5: 77,044,308 (GRCm39) |
V194A |
probably damaging |
Het |
Adamts13 |
G |
A |
2: 26,876,691 (GRCm39) |
|
probably null |
Het |
Ahnak |
T |
C |
19: 8,988,508 (GRCm39) |
M3264T |
possibly damaging |
Het |
Birc6 |
T |
A |
17: 74,906,335 (GRCm39) |
C1409S |
probably damaging |
Het |
Dnah2 |
A |
G |
11: 69,338,687 (GRCm39) |
V3161A |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,383,727 (GRCm39) |
Y2983F |
probably damaging |
Het |
Dnah6 |
G |
A |
6: 73,060,107 (GRCm39) |
L2774F |
probably damaging |
Het |
Dst |
A |
T |
1: 34,256,917 (GRCm39) |
T4398S |
probably damaging |
Het |
Efcab5 |
G |
A |
11: 77,031,749 (GRCm39) |
R42W |
probably damaging |
Het |
Efcab5 |
A |
T |
11: 77,063,204 (GRCm39) |
M96K |
probably benign |
Het |
Elavl4 |
A |
G |
4: 110,063,902 (GRCm39) |
|
probably benign |
Het |
Flt4 |
G |
A |
11: 49,535,213 (GRCm39) |
A1214T |
probably benign |
Het |
Fn1 |
G |
T |
1: 71,634,945 (GRCm39) |
T2127N |
probably damaging |
Het |
Foxj1 |
A |
T |
11: 116,222,629 (GRCm39) |
S391R |
possibly damaging |
Het |
Gabrb1 |
A |
T |
5: 72,266,150 (GRCm39) |
Y269F |
probably damaging |
Het |
Ghitm |
A |
G |
14: 36,847,868 (GRCm39) |
S259P |
possibly damaging |
Het |
Gm16332 |
A |
G |
1: 139,851,928 (GRCm39) |
|
noncoding transcript |
Het |
Gm16380 |
T |
A |
9: 53,791,727 (GRCm39) |
|
noncoding transcript |
Het |
Gm9869 |
A |
T |
9: 60,745,344 (GRCm39) |
|
probably benign |
Het |
Gm9936 |
G |
A |
5: 114,995,192 (GRCm39) |
Q142* |
probably null |
Het |
Hmbs |
T |
C |
9: 44,248,305 (GRCm39) |
Y260C |
probably benign |
Het |
Hoxc5 |
T |
A |
15: 102,923,784 (GRCm39) |
C193* |
probably null |
Het |
Idh2 |
C |
T |
7: 79,748,005 (GRCm39) |
A232T |
probably damaging |
Het |
Lce1j |
T |
C |
3: 92,696,695 (GRCm39) |
K28E |
unknown |
Het |
Lpgat1 |
C |
T |
1: 191,451,460 (GRCm39) |
|
probably benign |
Het |
Lyst |
T |
C |
13: 13,882,799 (GRCm39) |
|
probably benign |
Het |
Megf11 |
A |
G |
9: 64,547,360 (GRCm39) |
N235D |
probably damaging |
Het |
Mst1r |
T |
A |
9: 107,794,003 (GRCm39) |
|
probably null |
Het |
Nr2c2ap |
A |
G |
8: 70,584,237 (GRCm39) |
D9G |
probably benign |
Het |
Obscn |
T |
C |
11: 59,027,165 (GRCm39) |
T13A |
probably damaging |
Het |
Ofcc1 |
A |
C |
13: 40,367,950 (GRCm39) |
L188* |
probably null |
Het |
Oma1 |
A |
T |
4: 103,182,398 (GRCm39) |
|
probably benign |
Het |
Or10aa3 |
A |
T |
1: 173,877,965 (GRCm39) |
T9S |
probably benign |
Het |
Or5m11 |
A |
G |
2: 85,782,217 (GRCm39) |
E270G |
probably damaging |
Het |
Pcm1 |
T |
C |
8: 41,769,060 (GRCm39) |
F1642S |
probably damaging |
Het |
Pglyrp2 |
A |
G |
17: 32,639,836 (GRCm39) |
M1T |
probably null |
Het |
Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
Prdm10 |
C |
A |
9: 31,227,596 (GRCm39) |
T67K |
probably damaging |
Het |
Ralgapa1 |
A |
T |
12: 55,754,852 (GRCm39) |
H1193Q |
probably benign |
Het |
Sall1 |
A |
G |
8: 89,759,232 (GRCm39) |
S291P |
probably damaging |
Het |
Sdk2 |
T |
C |
11: 113,784,290 (GRCm39) |
T150A |
probably damaging |
Het |
Sel1l2 |
T |
A |
2: 140,117,361 (GRCm39) |
Y170F |
probably benign |
Het |
Sema4a |
C |
T |
3: 88,344,107 (GRCm39) |
V715I |
possibly damaging |
Het |
Smgc |
G |
A |
15: 91,738,841 (GRCm39) |
A500T |
probably benign |
Het |
Spef2 |
A |
G |
15: 9,584,148 (GRCm39) |
V1639A |
probably damaging |
Het |
Srrm4 |
A |
G |
5: 116,620,437 (GRCm39) |
|
probably benign |
Het |
Tbc1d23 |
G |
A |
16: 57,009,636 (GRCm39) |
H418Y |
probably damaging |
Het |
Tbk1 |
A |
G |
10: 121,420,159 (GRCm39) |
L10P |
probably damaging |
Het |
Thumpd3 |
G |
A |
6: 113,042,621 (GRCm39) |
|
probably null |
Het |
Trp53bp1 |
G |
T |
2: 121,035,424 (GRCm39) |
T1609K |
probably damaging |
Het |
Tut1 |
A |
G |
19: 8,932,919 (GRCm39) |
N84S |
probably benign |
Het |
Urb1 |
C |
T |
16: 90,593,287 (GRCm39) |
G282R |
probably damaging |
Het |
Usp19 |
A |
T |
9: 108,376,910 (GRCm39) |
D1160V |
probably damaging |
Het |
Usp9y |
A |
G |
Y: 1,316,933 (GRCm39) |
V1872A |
probably damaging |
Het |
Zfp276 |
C |
A |
8: 123,986,242 (GRCm39) |
Y386* |
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 |
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 |
|
R7445:Camta1
|
UTSW |
4 |
151,228,748 (GRCm39) |
missense |
possibly damaging |
0.94 |
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 |
|
Posted On |
2013-08-08 |