Incidental Mutation 'R2081:Camta1'
ID |
229471 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camta1
|
Ensembl Gene |
ENSMUSG00000014592 |
Gene Name |
calmodulin binding transcription activator 1 |
Synonyms |
2310058O09Rik, 1810059M14Rik |
MMRRC Submission |
040086-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.557)
|
Stock # |
R2081 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
151143980-151946225 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 151228699 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 711
(E711G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127916
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049790]
[ENSMUST00000097774]
[ENSMUST00000169423]
|
AlphaFold |
A2A891 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049790
AA Change: E711G
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000054804 Gene: ENSMUSG00000014592 AA Change: E711G
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: E711G
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000095381 Gene: ENSMUSG00000014592 AA Change: E711G
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 benign
Transcript: ENSMUST00000169423
AA Change: E711G
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000127916 Gene: ENSMUSG00000014592 AA Change: E711G
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
A |
G |
11: 54,211,085 (GRCm39) |
T28A |
possibly damaging |
Het |
Actl11 |
G |
A |
9: 107,807,396 (GRCm39) |
G573D |
probably benign |
Het |
Adam39 |
T |
A |
8: 41,279,879 (GRCm39) |
*757K |
probably null |
Het |
Agpat4 |
T |
C |
17: 12,370,771 (GRCm39) |
I38T |
possibly damaging |
Het |
Ap3d1 |
A |
C |
10: 80,568,770 (GRCm39) |
I36S |
probably damaging |
Het |
Arhgap45 |
T |
C |
10: 79,863,508 (GRCm39) |
F784L |
probably damaging |
Het |
Atg5lrt |
T |
C |
10: 95,972,601 (GRCm39) |
I46T |
possibly damaging |
Het |
Atp10b |
T |
A |
11: 43,092,955 (GRCm39) |
I430N |
probably damaging |
Het |
Atrip |
T |
A |
9: 108,901,807 (GRCm39) |
|
probably null |
Het |
C2cd4b |
G |
T |
9: 67,667,859 (GRCm39) |
R285L |
probably damaging |
Het |
Clcn6 |
T |
C |
4: 148,095,525 (GRCm39) |
Y685C |
probably damaging |
Het |
Col18a1 |
T |
A |
10: 76,890,019 (GRCm39) |
D1447V |
probably damaging |
Het |
Crispld1 |
T |
A |
1: 17,832,403 (GRCm39) |
V463D |
probably damaging |
Het |
Crybg2 |
T |
G |
4: 133,816,131 (GRCm39) |
F1612V |
possibly damaging |
Het |
Dclk1 |
T |
C |
3: 55,429,346 (GRCm39) |
|
probably null |
Het |
Ddx46 |
G |
T |
13: 55,821,829 (GRCm39) |
V834L |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,852,045 (GRCm39) |
D1734G |
possibly damaging |
Het |
Dpep1 |
T |
C |
8: 123,926,117 (GRCm39) |
V152A |
probably damaging |
Het |
Ect2l |
T |
C |
10: 18,041,275 (GRCm39) |
E301G |
probably damaging |
Het |
Elf3 |
C |
T |
1: 135,184,814 (GRCm39) |
C124Y |
probably benign |
Het |
Eno2 |
A |
G |
6: 124,740,088 (GRCm39) |
V316A |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,823,426 (GRCm39) |
E820G |
possibly damaging |
Het |
Evpl |
A |
T |
11: 116,125,092 (GRCm39) |
H123Q |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,200,503 (GRCm39) |
Y857F |
possibly damaging |
Het |
Fbrsl1 |
T |
A |
5: 110,519,491 (GRCm39) |
|
probably null |
Het |
Fbxw7 |
A |
G |
3: 84,881,820 (GRCm39) |
D432G |
probably damaging |
Het |
Flt1 |
A |
T |
5: 147,576,232 (GRCm39) |
L592Q |
probably damaging |
Het |
Gm14496 |
T |
A |
2: 181,642,272 (GRCm39) |
C648S |
probably damaging |
Het |
Gm5150 |
A |
T |
3: 16,045,109 (GRCm39) |
S39T |
probably benign |
Het |
Gse1 |
C |
A |
8: 121,293,219 (GRCm39) |
P177Q |
probably damaging |
Het |
Heatr4 |
G |
A |
12: 84,027,096 (GRCm39) |
R54W |
probably damaging |
Het |
Hpgd |
C |
A |
8: 56,760,677 (GRCm39) |
Q125K |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Mast2 |
A |
T |
4: 116,187,671 (GRCm39) |
|
probably null |
Het |
Mfsd11 |
A |
G |
11: 116,752,381 (GRCm39) |
T177A |
possibly damaging |
Het |
Mlx |
T |
C |
11: 100,978,257 (GRCm39) |
S36P |
probably benign |
Het |
Mlxipl |
T |
A |
5: 135,142,492 (GRCm39) |
V102D |
probably damaging |
Het |
Mms22l |
T |
C |
4: 24,536,150 (GRCm39) |
Y540H |
probably damaging |
Het |
Msc |
T |
C |
1: 14,825,941 (GRCm39) |
D11G |
probably benign |
Het |
Muc4 |
C |
G |
16: 32,574,020 (GRCm39) |
S699R |
probably benign |
Het |
Nckap1l |
T |
C |
15: 103,405,881 (GRCm39) |
S1106P |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,925,008 (GRCm39) |
E5703G |
possibly damaging |
Het |
Or2ag1 |
A |
G |
7: 106,313,405 (GRCm39) |
M161T |
probably benign |
Het |
Pabpn1 |
A |
G |
14: 55,133,115 (GRCm39) |
K38E |
probably damaging |
Het |
Padi3 |
A |
T |
4: 140,526,290 (GRCm39) |
L141Q |
probably damaging |
Het |
Pakap |
G |
A |
4: 57,855,927 (GRCm39) |
E419K |
possibly damaging |
Het |
Pde3b |
A |
G |
7: 114,122,657 (GRCm39) |
N742D |
probably benign |
Het |
Pex1 |
T |
A |
5: 3,674,132 (GRCm39) |
|
probably null |
Het |
Pkd2 |
T |
C |
5: 104,608,077 (GRCm39) |
V192A |
probably benign |
Het |
Ppp6r2 |
T |
A |
15: 89,166,332 (GRCm39) |
M750K |
probably benign |
Het |
Prdm15 |
A |
T |
16: 97,604,980 (GRCm39) |
Y783* |
probably null |
Het |
Prox2 |
T |
A |
12: 85,141,782 (GRCm39) |
Q140H |
probably damaging |
Het |
Psg27 |
A |
T |
7: 18,290,883 (GRCm39) |
I440K |
probably damaging |
Het |
Pzp |
A |
G |
6: 128,496,383 (GRCm39) |
M283T |
probably benign |
Het |
Sec23a |
G |
A |
12: 59,045,067 (GRCm39) |
Q192* |
probably null |
Het |
Sh2b1 |
A |
G |
7: 126,071,862 (GRCm39) |
S108P |
possibly damaging |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Tkfc |
G |
A |
19: 10,574,742 (GRCm39) |
A166V |
probably damaging |
Het |
Tomm70a |
T |
C |
16: 56,961,121 (GRCm39) |
V358A |
probably damaging |
Het |
Trim47 |
A |
G |
11: 115,997,239 (GRCm39) |
F505S |
probably damaging |
Het |
Tti2 |
T |
C |
8: 31,641,337 (GRCm39) |
F154L |
possibly damaging |
Het |
Ubap2l |
C |
T |
3: 89,946,271 (GRCm39) |
G111D |
possibly damaging |
Het |
Usp9y |
A |
T |
Y: 1,381,277 (GRCm39) |
I848N |
possibly damaging |
Het |
Veph1 |
T |
C |
3: 65,968,523 (GRCm39) |
Y740C |
probably damaging |
Het |
Vmn2r114 |
T |
A |
17: 23,510,083 (GRCm39) |
H799L |
possibly damaging |
Het |
Wdr31 |
T |
A |
4: 62,374,180 (GRCm39) |
M270L |
probably benign |
Het |
Zfp26 |
A |
G |
9: 20,347,913 (GRCm39) |
S884P |
probably benign |
Het |
Zswim6 |
T |
A |
13: 107,909,930 (GRCm39) |
|
noncoding transcript |
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 |
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'- AGGTCTGAGAACTGATTGCTG -3'
(R):5'- TGATGCCCACGGTGAAAACG -3'
Sequencing Primer
(F):5'- AACTGATTGCTGAAGGAAATGTC -3'
(R):5'- TGAAAACGGAGGCCTCGTC -3'
|
Posted On |
2014-09-17 |