Incidental Mutation 'R1941:Camta1'
ID |
213996 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camta1
|
Ensembl Gene |
ENSMUSG00000014592 |
Gene Name |
calmodulin binding transcription activator 1 |
Synonyms |
2310058O09Rik, 1810059M14Rik |
MMRRC Submission |
039959-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.557)
|
Stock # |
R1941 (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 151159612 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1616
(Y1616C)
|
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: Y1616C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000054804 Gene: ENSMUSG00000014592 AA Change: Y1616C
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: Y1609C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095381 Gene: ENSMUSG00000014592 AA Change: Y1609C
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: Y525C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101293 Gene: ENSMUSG00000014592 AA Change: Y525C
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: Y518C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101295 Gene: ENSMUSG00000014592 AA Change: Y518C
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: Y172C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119067 Gene: ENSMUSG00000014592 AA Change: Y172C
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: Y1616C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127916 Gene: ENSMUSG00000014592 AA Change: Y1616C
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: 97.3%
- 3x: 96.6%
- 10x: 94.8%
- 20x: 91.1%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Art2b |
A |
C |
7: 101,229,524 (GRCm39) |
F125C |
probably damaging |
Het |
Cep162 |
T |
G |
9: 87,082,048 (GRCm39) |
I1286L |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,703,697 (GRCm39) |
|
probably null |
Het |
Col11a2 |
T |
A |
17: 34,263,925 (GRCm39) |
S247T |
probably benign |
Het |
Col6a4 |
T |
G |
9: 105,952,209 (GRCm39) |
D563A |
probably benign |
Het |
Crebbp |
C |
T |
16: 3,997,555 (GRCm39) |
M176I |
probably benign |
Het |
Cyp4a12b |
A |
G |
4: 115,295,256 (GRCm39) |
N454S |
probably damaging |
Het |
Dhx8 |
T |
C |
11: 101,643,024 (GRCm39) |
|
probably null |
Het |
Dock7 |
G |
A |
4: 98,872,952 (GRCm39) |
L1165F |
probably benign |
Het |
Fam117a |
A |
T |
11: 95,271,624 (GRCm39) |
N399Y |
probably damaging |
Het |
Fmn1 |
A |
G |
2: 113,195,488 (GRCm39) |
K396R |
unknown |
Het |
Foxk1 |
T |
A |
5: 142,442,429 (GRCm39) |
V693E |
possibly damaging |
Het |
Gml |
A |
G |
15: 74,689,020 (GRCm39) |
L10P |
probably damaging |
Het |
Gpx8 |
A |
G |
13: 113,182,809 (GRCm39) |
L34P |
probably damaging |
Het |
Kank2 |
A |
G |
9: 21,684,162 (GRCm39) |
L689P |
possibly damaging |
Het |
Mt4 |
G |
A |
8: 94,864,874 (GRCm39) |
C16Y |
possibly damaging |
Het |
Naa15 |
C |
A |
3: 51,363,355 (GRCm39) |
Y346* |
probably null |
Het |
Ntrk3 |
C |
T |
7: 77,897,010 (GRCm39) |
V676I |
probably damaging |
Het |
Oasl2 |
G |
A |
5: 115,049,423 (GRCm39) |
|
probably benign |
Het |
Or1e1c |
T |
A |
11: 73,266,447 (GRCm39) |
F294I |
probably damaging |
Het |
Or6c215 |
T |
A |
10: 129,638,281 (GRCm39) |
M38L |
probably benign |
Het |
Or6c8 |
T |
G |
10: 128,915,823 (GRCm39) |
N3T |
probably damaging |
Het |
Or7e169 |
G |
A |
9: 19,757,246 (GRCm39) |
S223F |
probably damaging |
Het |
Or7g20 |
A |
C |
9: 18,947,162 (GRCm39) |
T248P |
possibly damaging |
Het |
Otud7a |
C |
T |
7: 63,379,574 (GRCm39) |
R273* |
probably null |
Het |
Pcare |
T |
G |
17: 72,059,063 (GRCm39) |
T205P |
probably damaging |
Het |
Pde11a |
C |
T |
2: 76,121,594 (GRCm39) |
R329Q |
probably benign |
Het |
Pga5 |
G |
T |
19: 10,646,820 (GRCm39) |
|
probably null |
Het |
Ppp1r1a |
A |
G |
15: 103,441,528 (GRCm39) |
|
probably null |
Het |
Pus10 |
A |
G |
11: 23,661,198 (GRCm39) |
Q262R |
possibly damaging |
Het |
Rbm17 |
T |
C |
2: 11,593,885 (GRCm39) |
K241R |
possibly damaging |
Het |
Rp1l1 |
T |
G |
14: 64,259,701 (GRCm39) |
D114E |
probably damaging |
Het |
Safb |
T |
A |
17: 56,905,992 (GRCm39) |
|
probably benign |
Het |
Sgpl1 |
T |
C |
10: 60,939,086 (GRCm39) |
Y371C |
probably damaging |
Het |
Siglec1 |
C |
A |
2: 130,920,051 (GRCm39) |
A827S |
possibly damaging |
Het |
Smg5 |
T |
A |
3: 88,252,687 (GRCm39) |
S158T |
possibly damaging |
Het |
Sp2 |
C |
T |
11: 96,846,762 (GRCm39) |
C527Y |
probably damaging |
Het |
Spaca6 |
A |
G |
17: 18,058,664 (GRCm39) |
I71V |
probably benign |
Het |
Spaca6 |
A |
G |
17: 18,058,692 (GRCm39) |
E80G |
probably damaging |
Het |
Steap1 |
C |
A |
5: 5,790,541 (GRCm39) |
A136S |
probably damaging |
Het |
Supv3l1 |
G |
C |
10: 62,285,391 (GRCm39) |
P25R |
probably benign |
Het |
Tex21 |
T |
C |
12: 76,268,458 (GRCm39) |
K108R |
possibly damaging |
Het |
Tnc |
A |
G |
4: 63,933,201 (GRCm39) |
Y688H |
probably damaging |
Het |
Tnr |
G |
A |
1: 159,677,704 (GRCm39) |
E30K |
possibly damaging |
Het |
Tnrc18 |
G |
T |
5: 142,800,905 (GRCm39) |
P18T |
probably damaging |
Het |
Ttk |
T |
G |
9: 83,735,179 (GRCm39) |
S422A |
probably benign |
Het |
Ubap1 |
A |
G |
4: 41,378,968 (GRCm39) |
K61E |
probably damaging |
Het |
Ubr2 |
C |
T |
17: 47,284,952 (GRCm39) |
R522H |
probably damaging |
Het |
Vwf |
A |
T |
6: 125,616,242 (GRCm39) |
E1185D |
possibly damaging |
Het |
Wwp2 |
A |
G |
8: 108,244,547 (GRCm39) |
T194A |
probably benign |
Het |
Zfp36 |
A |
G |
7: 28,077,071 (GRCm39) |
V279A |
probably damaging |
Het |
Zfp870 |
C |
A |
17: 33,101,778 (GRCm39) |
R517L |
possibly 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 |
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 |
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'- TGTTACACAAAGTCACACTGGAG -3'
(R):5'- TCCCAGCAGAGATTAGGGTAGG -3'
Sequencing Primer
(F):5'- CTGGAGAGGAAGGTGCTGCC -3'
(R):5'- TCTTACCGCCTAAGCTTGGAGG -3'
|
Posted On |
2014-07-14 |