Incidental Mutation 'R0239:Camta1'
ID |
37187 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camta1
|
Ensembl Gene |
ENSMUSG00000014592 |
Gene Name |
calmodulin binding transcription activator 1 |
Synonyms |
2310058O09Rik, 1810059M14Rik |
MMRRC Submission |
038477-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.551)
|
Stock # |
R0239 (G1)
|
Quality Score |
212 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
151143980-151946225 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 151228187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 882
(W882R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127916
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049790]
[ENSMUST00000097774]
[ENSMUST00000169423]
|
AlphaFold |
A2A891 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049790
AA Change: W882R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000054804 Gene: ENSMUSG00000014592 AA Change: W882R
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: W882R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095381 Gene: ENSMUSG00000014592 AA Change: W882R
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 |
noncoding transcript
Transcript: ENSMUST00000143434
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169423
AA Change: W882R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127916 Gene: ENSMUSG00000014592 AA Change: W882R
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 |
0.9486 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.9%
|
Validation Efficiency |
100% (3/3) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
TTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCC |
3: 137,771,595 (GRCm39) |
|
probably benign |
Het |
Adra1d |
C |
A |
2: 131,388,134 (GRCm39) |
V474F |
probably benign |
Het |
Alg8 |
A |
T |
7: 97,032,891 (GRCm39) |
|
probably null |
Het |
Ash1l |
A |
G |
3: 88,974,529 (GRCm39) |
D2618G |
possibly damaging |
Het |
Atp6v1c2 |
C |
A |
12: 17,344,676 (GRCm39) |
|
probably null |
Het |
Cacna1d |
A |
G |
14: 29,845,453 (GRCm39) |
V572A |
probably benign |
Het |
Cd72 |
A |
G |
4: 43,453,163 (GRCm39) |
V91A |
probably benign |
Het |
Cdh12 |
T |
C |
15: 21,586,493 (GRCm39) |
W771R |
probably damaging |
Het |
Cdx2 |
G |
T |
5: 147,240,097 (GRCm39) |
T193K |
probably damaging |
Het |
Cfap70 |
A |
C |
14: 20,498,673 (GRCm39) |
S5A |
probably benign |
Het |
Chmp7 |
A |
G |
14: 69,958,446 (GRCm39) |
V241A |
probably damaging |
Het |
D3Ertd751e |
A |
G |
3: 41,708,313 (GRCm39) |
Y150C |
probably damaging |
Het |
Depdc5 |
T |
C |
5: 33,100,584 (GRCm39) |
S832P |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,370,738 (GRCm39) |
S4673G |
probably benign |
Het |
Dock4 |
G |
T |
12: 40,787,539 (GRCm39) |
S818I |
probably damaging |
Het |
Dysf |
C |
T |
6: 84,041,461 (GRCm39) |
Q156* |
probably null |
Het |
Elp1 |
C |
A |
4: 56,784,596 (GRCm39) |
V466L |
probably benign |
Het |
Espnl |
T |
C |
1: 91,250,009 (GRCm39) |
V52A |
probably damaging |
Het |
Flcn |
T |
C |
11: 59,691,902 (GRCm39) |
N249S |
probably benign |
Het |
Gemin6 |
C |
A |
17: 80,533,139 (GRCm39) |
A24D |
probably damaging |
Het |
Gm5773 |
A |
G |
3: 93,681,339 (GRCm39) |
H337R |
probably benign |
Het |
Hal |
T |
C |
10: 93,339,344 (GRCm39) |
S478P |
possibly damaging |
Het |
Hectd1 |
T |
A |
12: 51,816,101 (GRCm39) |
M1324L |
possibly damaging |
Het |
Hyal5 |
T |
A |
6: 24,876,343 (GRCm39) |
L72Q |
probably damaging |
Het |
Ift140 |
C |
A |
17: 25,264,497 (GRCm39) |
C557* |
probably null |
Het |
Kbtbd3 |
G |
T |
9: 4,330,144 (GRCm39) |
V173L |
possibly damaging |
Het |
Kif14 |
A |
G |
1: 136,455,131 (GRCm39) |
E1551G |
probably damaging |
Het |
Krt17 |
G |
A |
11: 100,151,704 (GRCm39) |
R30* |
probably null |
Het |
Lamb3 |
A |
T |
1: 193,003,361 (GRCm39) |
D100V |
probably damaging |
Het |
Map2 |
A |
G |
1: 66,455,265 (GRCm39) |
D1385G |
probably damaging |
Het |
Mettl25 |
C |
T |
10: 105,662,386 (GRCm39) |
V195I |
probably damaging |
Het |
Myh8 |
A |
G |
11: 67,192,518 (GRCm39) |
T1466A |
probably benign |
Het |
Myo3b |
T |
A |
2: 69,935,769 (GRCm39) |
C61S |
probably benign |
Het |
Nacc2 |
T |
G |
2: 25,952,273 (GRCm39) |
N361T |
probably damaging |
Het |
Nf1 |
A |
T |
11: 79,309,400 (GRCm39) |
K438M |
possibly damaging |
Het |
Nipal4 |
A |
G |
11: 46,041,268 (GRCm39) |
V309A |
possibly damaging |
Het |
Nomo1 |
T |
C |
7: 45,729,018 (GRCm39) |
|
probably null |
Het |
Nubp2 |
T |
C |
17: 25,103,445 (GRCm39) |
E144G |
probably damaging |
Het |
Nwd2 |
A |
T |
5: 63,957,467 (GRCm39) |
I266F |
probably benign |
Het |
Or12e7 |
T |
C |
2: 87,288,381 (GRCm39) |
F291L |
probably benign |
Het |
Or2ag1b |
A |
G |
7: 106,288,462 (GRCm39) |
Y159H |
probably benign |
Het |
Or52s1 |
G |
A |
7: 102,861,933 (GRCm39) |
V289M |
possibly damaging |
Het |
Orc1 |
T |
C |
4: 108,452,843 (GRCm39) |
|
probably null |
Het |
Otogl |
T |
A |
10: 107,642,557 (GRCm39) |
N1291I |
probably damaging |
Het |
Pah |
C |
T |
10: 87,403,143 (GRCm39) |
P173S |
possibly damaging |
Het |
Pga5 |
A |
G |
19: 10,646,817 (GRCm39) |
Y305H |
probably damaging |
Het |
Plekha4 |
A |
G |
7: 45,181,782 (GRCm39) |
H62R |
probably damaging |
Het |
Plxnd1 |
G |
T |
6: 115,945,754 (GRCm39) |
D906E |
probably benign |
Het |
Ppfia4 |
T |
C |
1: 134,256,927 (GRCm39) |
E98G |
possibly damaging |
Het |
Ptk2 |
A |
T |
15: 73,215,132 (GRCm39) |
|
probably null |
Het |
Raet1e |
C |
A |
10: 22,056,761 (GRCm39) |
H112Q |
possibly damaging |
Het |
Scai |
T |
A |
2: 38,965,054 (GRCm39) |
I597F |
probably benign |
Het |
Sirpd |
A |
G |
3: 15,361,661 (GRCm39) |
L163P |
probably damaging |
Het |
Slc35c2 |
C |
T |
2: 165,122,757 (GRCm39) |
G176S |
probably damaging |
Het |
Slc35f4 |
A |
T |
14: 49,541,713 (GRCm39) |
I347N |
possibly damaging |
Het |
Slc52a3 |
T |
C |
2: 151,850,076 (GRCm39) |
*461Q |
probably null |
Het |
Slc6a1 |
G |
A |
6: 114,279,761 (GRCm39) |
V142I |
probably benign |
Het |
Tbc1d31 |
C |
A |
15: 57,804,149 (GRCm39) |
T388N |
probably benign |
Het |
Tmem63c |
T |
C |
12: 87,122,413 (GRCm39) |
W404R |
probably damaging |
Het |
Tmem79 |
A |
G |
3: 88,240,628 (GRCm39) |
S107P |
probably benign |
Het |
Trip11 |
C |
T |
12: 101,850,987 (GRCm39) |
E741K |
probably damaging |
Het |
Trpm5 |
G |
T |
7: 142,636,695 (GRCm39) |
T414N |
probably damaging |
Het |
Tsnaxip1 |
T |
A |
8: 106,571,120 (GRCm39) |
I660N |
possibly damaging |
Het |
Ube2q2 |
T |
C |
9: 55,070,291 (GRCm39) |
S78P |
probably damaging |
Het |
Vac14 |
A |
T |
8: 111,362,007 (GRCm39) |
|
probably null |
Het |
Vps51 |
G |
T |
19: 6,121,467 (GRCm39) |
S185* |
probably null |
Het |
Zfp11 |
C |
T |
5: 129,735,302 (GRCm39) |
G53E |
possibly damaging |
Het |
Zfp532 |
A |
T |
18: 65,816,056 (GRCm39) |
I810F |
possibly damaging |
Het |
Zfp599 |
C |
T |
9: 22,161,055 (GRCm39) |
C370Y |
probably damaging |
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 |
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 |
|
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 |
PCR Primer
(F):5'- AGTGTTCCAAAGTTGCACCCTCC -3'
(R):5'- CTGCACTCTCACAGTCGGAAGATG -3'
Sequencing Primer
(F):5'- CCCTGCTAGAGTGAAGTCTGAG -3'
(R):5'- CCCAGGCGGAGATGTGTATTC -3'
|
Posted On |
2013-05-09 |