Incidental Mutation 'R1704:Camta1'
ID |
189955 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camta1
|
Ensembl Gene |
ENSMUSG00000014592 |
Gene Name |
calmodulin binding transcription activator 1 |
Synonyms |
2310058O09Rik, 1810059M14Rik |
MMRRC Submission |
039737-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.557)
|
Stock # |
R1704 (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 151159681 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1593
(Y1593C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127916
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049790]
[ENSMUST00000097774]
[ENSMUST00000105668]
[ENSMUST00000105670]
[ENSMUST00000140030]
[ENSMUST00000169423]
|
AlphaFold |
A2A891 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049790
AA Change: Y1593C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000054804 Gene: ENSMUSG00000014592 AA Change: Y1593C
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: Y1586C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095381 Gene: ENSMUSG00000014592 AA Change: Y1586C
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 damaging
Transcript: ENSMUST00000105668
AA Change: Y502C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101293 Gene: ENSMUSG00000014592 AA Change: Y502C
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 |
probably damaging
Transcript: ENSMUST00000105670
AA Change: Y495C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101295 Gene: ENSMUSG00000014592 AA Change: Y495C
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 damaging
Transcript: ENSMUST00000140030
AA Change: Y149C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119067 Gene: ENSMUSG00000014592 AA Change: Y149C
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 damaging
Transcript: ENSMUST00000169423
AA Change: Y1593C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127916 Gene: ENSMUSG00000014592 AA Change: Y1593C
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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad1 |
C |
T |
3: 37,146,164 (GRCm39) |
H511Y |
probably benign |
Het |
Aldh1l2 |
C |
T |
10: 83,344,524 (GRCm39) |
A341T |
probably benign |
Het |
Apon |
T |
C |
10: 128,090,865 (GRCm39) |
F181S |
probably damaging |
Het |
Avpr1b |
T |
A |
1: 131,537,242 (GRCm39) |
L342Q |
possibly damaging |
Het |
Cacna1c |
A |
T |
6: 118,579,107 (GRCm39) |
H1810Q |
probably benign |
Het |
Cdh23 |
T |
A |
10: 60,150,390 (GRCm39) |
I2527F |
probably damaging |
Het |
Cep192 |
T |
A |
18: 67,989,327 (GRCm39) |
S1825T |
probably damaging |
Het |
Cntnap4 |
T |
A |
8: 113,484,155 (GRCm39) |
W403R |
probably damaging |
Het |
Crppa |
A |
G |
12: 36,571,493 (GRCm39) |
E279G |
probably benign |
Het |
D630045J12Rik |
G |
A |
6: 38,116,362 (GRCm39) |
P1753S |
probably benign |
Het |
Dsg4 |
T |
C |
18: 20,604,646 (GRCm39) |
Y1038H |
probably damaging |
Het |
Fat1 |
C |
T |
8: 45,478,613 (GRCm39) |
T2553I |
probably damaging |
Het |
Fem1c |
A |
T |
18: 46,639,263 (GRCm39) |
N246K |
probably benign |
Het |
Frmd8 |
T |
A |
19: 5,919,510 (GRCm39) |
Q179L |
probably benign |
Het |
Gbp10 |
A |
G |
5: 105,372,217 (GRCm39) |
F181S |
probably damaging |
Het |
Hfe |
T |
C |
13: 23,888,391 (GRCm39) |
Y265C |
probably damaging |
Het |
Kifap3 |
A |
G |
1: 163,656,765 (GRCm39) |
N362D |
possibly damaging |
Het |
Lima1 |
A |
G |
15: 99,717,617 (GRCm39) |
F130L |
probably benign |
Het |
Lipo3 |
A |
T |
19: 33,757,743 (GRCm39) |
V242E |
possibly damaging |
Het |
Nf1 |
T |
A |
11: 79,354,127 (GRCm39) |
|
probably null |
Het |
Nos1ap |
C |
G |
1: 170,165,781 (GRCm39) |
E161Q |
probably damaging |
Het |
Or1q1 |
A |
T |
2: 36,886,896 (GRCm39) |
I25F |
probably benign |
Het |
Or2t43 |
A |
T |
11: 58,457,580 (GRCm39) |
M197K |
probably damaging |
Het |
Pde4dip |
C |
T |
3: 97,661,576 (GRCm39) |
V611I |
probably benign |
Het |
Pdk2 |
T |
C |
11: 94,919,376 (GRCm39) |
I300V |
possibly damaging |
Het |
Polr2b |
A |
G |
5: 77,490,407 (GRCm39) |
D849G |
possibly damaging |
Het |
Polr3a |
G |
A |
14: 24,534,188 (GRCm39) |
Q106* |
probably null |
Het |
Prr14l |
G |
T |
5: 32,987,626 (GRCm39) |
A623D |
probably benign |
Het |
Rab43 |
A |
C |
6: 87,788,363 (GRCm39) |
|
probably null |
Het |
Sart3 |
G |
A |
5: 113,884,068 (GRCm39) |
T648M |
probably benign |
Het |
Scn10a |
T |
C |
9: 119,438,460 (GRCm39) |
D1803G |
probably damaging |
Het |
Sec11a |
A |
T |
7: 80,584,848 (GRCm39) |
S30T |
possibly damaging |
Het |
Sez6l2 |
G |
A |
7: 126,557,513 (GRCm39) |
G309E |
probably damaging |
Het |
Snx14 |
A |
C |
9: 88,295,591 (GRCm39) |
D191E |
probably damaging |
Het |
Sox6 |
A |
T |
7: 115,076,183 (GRCm39) |
N777K |
possibly damaging |
Het |
Susd4 |
A |
G |
1: 182,681,678 (GRCm39) |
N173S |
probably damaging |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Tgfbrap1 |
G |
T |
1: 43,093,816 (GRCm39) |
Q559K |
probably benign |
Het |
Tmco1 |
T |
C |
1: 167,153,506 (GRCm39) |
S129P |
possibly damaging |
Het |
Tmprss11a |
T |
C |
5: 86,576,561 (GRCm39) |
T97A |
probably benign |
Het |
Tnni3k |
G |
A |
3: 154,533,145 (GRCm39) |
A774V |
probably benign |
Het |
Tshz3 |
T |
C |
7: 36,470,785 (GRCm39) |
S925P |
possibly damaging |
Het |
Ush2a |
T |
C |
1: 188,553,993 (GRCm39) |
V3494A |
probably damaging |
Het |
Vmn2r9 |
T |
C |
5: 108,994,266 (GRCm39) |
D461G |
probably damaging |
Het |
Zan |
A |
T |
5: 137,432,264 (GRCm39) |
C2344* |
probably null |
Het |
Zfp629 |
A |
G |
7: 127,210,036 (GRCm39) |
I591T |
probably benign |
Het |
Zfp955a |
G |
A |
17: 33,460,699 (GRCm39) |
R478* |
probably null |
Het |
Zmym1 |
A |
T |
4: 126,942,177 (GRCm39) |
I737N |
probably damaging |
Het |
Zranb3 |
T |
C |
1: 128,019,740 (GRCm39) |
M1V |
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 |
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'- AATCACTGAGCCCTGAGCCCTATG -3'
(R):5'- ACTGGAAGCTTGCTGTTGGCATC -3'
Sequencing Primer
(F):5'- CTCTCCTGAAGTAATTAGGGAGTC -3'
(R):5'- CATCCTGAGGTTGGCTCC -3'
|
Posted On |
2014-05-14 |