Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00823:Camta1'

9368

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Camta1

Ensembl Gene

ENSMUSG00000014592

Gene Name

calmodulin binding transcription activator 1

Synonyms

1810059M14Rik, 2310058O09Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.549) question?

Stock #

IGL00823

Quality Score

Status

Chromosome

Chromosomal Location

150917322-151861876 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 151084601 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 231 (I231R)

Ref Sequence

ENSEMBL: ENSMUSP00000101293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049790] [ENSMUST00000097774] [ENSMUST00000105667] [ENSMUST00000105668] [ENSMUST00000105670] [ENSMUST00000131948] [ENSMUST00000140030] [ENSMUST00000169423]

Predicted Effect

probably benign
Transcript: ENSMUST00000049790
AA Change: I1209R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592
AA Change: I1209R

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: I1209R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592
AA Change: I1209R

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: ENSMUST00000105667

Predicted Effect

probably benign
Transcript: ENSMUST00000105668
AA Change: I231R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000101293
Gene: ENSMUSG00000014592
AA Change: I231R

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 benign
Transcript: ENSMUST00000105670
AA Change: I231R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101295
Gene: ENSMUSG00000014592
AA Change: I231R

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: ENSMUST00000131948

SMART Domains

Protein: ENSMUSP00000118969
Gene: ENSMUSG00000014592

Domain	Start	End	E-Value	Type
low complexity region	19	52	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140030

SMART Domains

Protein: ENSMUSP00000119067
Gene: ENSMUSG00000014592

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

noncoding transcript
Transcript: ENSMUST00000143434

Predicted Effect

probably benign
Transcript: ENSMUST00000169423
AA Change: I1209R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592
AA Change: I1209R

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	C	5: 76,878,534		probably benign	Het
Adam5	T	C	8: 24,818,742	E39G	probably benign	Het
Anapc7	G	A	5: 122,433,477	W205*	probably null	Het
Arhgap5	C	T	12: 52,518,742	T832I	possibly damaging	Het
Arhgef10	T	A	8: 14,940,378		probably benign	Het
Atg5	A	G	10: 44,363,044	T274A	probably benign	Het
Baiap2l2	G	T	15: 79,284,565		probably benign	Het
Brap	T	A	5: 121,665,227	M146K	probably damaging	Het
Brpf1	T	C	6: 113,321,886	S1074P	probably benign	Het
Ccdc15	C	T	9: 37,320,413	G205D	probably benign	Het
Cd6	G	T	19: 10,796,394		probably benign	Het
Cdh17	T	G	4: 11,783,412	S219R	possibly damaging	Het
Cgn	G	A	3: 94,767,209	R873W	probably damaging	Het
Ctnna3	C	T	10: 63,537,543	P41L	possibly damaging	Het
Dmbt1	T	C	7: 131,058,158	W484R	probably benign	Het
Dmd	A	G	X: 84,425,813		probably null	Het
Dnah17	C	T	11: 118,047,161	V3347I	probably benign	Het
Fam122b	A	T	X: 53,245,331	C222S	probably damaging	Het
Fgd5	T	A	6: 91,988,459	S400T	possibly damaging	Het
Kitl	C	A	10: 100,087,344		probably benign	Het
Lamc3	A	T	2: 31,918,521	D763V	probably damaging	Het
Lgmn	T	C	12: 102,398,176		probably benign	Het
Lpcat2	T	G	8: 92,864,970	W81G	possibly damaging	Het
Myh13	A	G	11: 67,355,947	I1165V	probably benign	Het
Nf1	A	G	11: 79,565,517	D599G	probably damaging	Het
Nin	T	C	12: 70,014,793	N2099S	probably benign	Het
Nlrc4	T	C	17: 74,447,990	D77G	probably benign	Het
Otub1	A	G	19: 7,204,051		probably benign	Het
Pah	A	G	10: 87,570,331	Y174C	probably null	Het
Papd4	T	C	13: 93,186,397	T15A	probably benign	Het
Rbbp5	G	A	1: 132,489,706	V88I	probably damaging	Het
Scn1a	C	T	2: 66,324,935	R560H	probably benign	Het
Snx5	T	C	2: 144,255,565	I217V	probably benign	Het
Syne2	T	C	12: 75,989,242	S3769P	probably damaging	Het
Tmem255b	T	C	8: 13,457,054	M261T	probably benign	Het
Top3b	T	C	16: 16,887,622	I417T	probably damaging	Het
Tspan2	T	C	3: 102,758,233		probably null	Het
Ttn	T	C	2: 76,709,713	T34310A	possibly damaging	Het
Ush2a	G	A	1: 188,911,443	C4334Y	possibly damaging	Het
Wdpcp	A	G	11: 21,659,995	D21G	probably damaging	Het
Yy2	A	C	X: 157,568,211	D186E	probably benign	Het

Other mutations in Camta1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00552:Camta1	APN	4	151071424	critical splice donor site	probably null
IGL01361:Camta1	APN	4	151144692	missense	probably damaging	1.00
IGL01523:Camta1	APN	4	151145050	missense	possibly damaging	0.73
IGL01730:Camta1	APN	4	151062845	missense	probably damaging	0.99
IGL02045:Camta1	APN	4	151073985	splice site	probably null
IGL02541:Camta1	APN	4	151084655	missense	probably benign	0.12
IGL02839:Camta1	APN	4	151144512	missense	probably damaging	1.00
IGL03012:Camta1	APN	4	151453299	missense	probably damaging	1.00
Bonus	UTSW	4	151138375	missense	probably damaging	1.00
BB010:Camta1	UTSW	4	151083757	missense	probably damaging	0.99
BB020:Camta1	UTSW	4	151083757	missense	probably damaging	0.99
PIT4449001:Camta1	UTSW	4	151131586	missense	probably benign	0.00
R0136:Camta1	UTSW	4	151078969	missense	probably damaging	0.99
R0239:Camta1	UTSW	4	151143730	missense	probably damaging	1.00
R0239:Camta1	UTSW	4	151143730	missense	probably damaging	1.00
R0276:Camta1	UTSW	4	151075140	missense	probably damaging	1.00
R0346:Camta1	UTSW	4	151075140	missense	probably damaging	1.00
R0347:Camta1	UTSW	4	151075140	missense	probably damaging	1.00
R0348:Camta1	UTSW	4	151586431	missense	possibly damaging	0.64
R0385:Camta1	UTSW	4	151075140	missense	probably damaging	1.00
R0386:Camta1	UTSW	4	151075140	missense	probably damaging	1.00
R0388:Camta1	UTSW	4	151075140	missense	probably damaging	1.00
R0410:Camta1	UTSW	4	151075140	missense	probably damaging	1.00
R0456:Camta1	UTSW	4	151075140	missense	probably damaging	1.00
R0478:Camta1	UTSW	4	151075140	missense	probably damaging	1.00
R0510:Camta1	UTSW	4	151075140	missense	probably damaging	1.00
R0511:Camta1	UTSW	4	151075140	missense	probably damaging	1.00
R0683:Camta1	UTSW	4	151075140	missense	probably damaging	1.00
R0724:Camta1	UTSW	4	151077892	missense	probably damaging	1.00
R0732:Camta1	UTSW	4	151586484	critical splice acceptor site	probably null
R1549:Camta1	UTSW	4	151586463	missense	probably damaging	1.00
R1670:Camta1	UTSW	4	151079771	missense	probably benign	0.00
R1704:Camta1	UTSW	4	151075224	missense	probably damaging	1.00
R1718:Camta1	UTSW	4	151084024	missense	probably benign	0.00
R1941:Camta1	UTSW	4	151075155	missense	probably damaging	1.00
R1967:Camta1	UTSW	4	151088973	missense	probably damaging	0.99
R1998:Camta1	UTSW	4	151077880	missense	probably damaging	1.00
R2081:Camta1	UTSW	4	151144242	missense	probably benign	0.24
R2104:Camta1	UTSW	4	151453294	missense	probably damaging	0.99
R2240:Camta1	UTSW	4	151084575	missense	possibly damaging	0.66
R4516:Camta1	UTSW	4	151144720	missense	possibly damaging	0.90
R4539:Camta1	UTSW	4	151084812	missense	probably benign	0.03
R4552:Camta1	UTSW	4	151792502	missense	probably damaging	0.96
R4610:Camta1	UTSW	4	151084827	missense	probably damaging	1.00
R4658:Camta1	UTSW	4	151143910	missense	probably damaging	1.00
R4725:Camta1	UTSW	4	151148496	missense	probably benign	0.11
R4786:Camta1	UTSW	4	151290039	missense	probably damaging	1.00
R4812:Camta1	UTSW	4	151131542	missense	probably null	0.25
R4840:Camta1	UTSW	4	151144407	missense	probably benign	0.23
R5038:Camta1	UTSW	4	151145469	missense	probably damaging	1.00
R5112:Camta1	UTSW	4	151074054	missense	probably damaging	1.00
R5251:Camta1	UTSW	4	151163884	missense	probably damaging	1.00
R5388:Camta1	UTSW	4	151075238	missense	probably damaging	1.00
R5487:Camta1	UTSW	4	151144754	missense	possibly damaging	0.73
R6343:Camta1	UTSW	4	151079849	missense	probably damaging	0.98
R6462:Camta1	UTSW	4	151086164	missense	probably damaging	0.98
R6550:Camta1	UTSW	4	151138375	missense	probably damaging	1.00
R6990:Camta1	UTSW	4	151145044	missense	probably damaging	0.97
R7165:Camta1	UTSW	4	151084700	missense	possibly damaging	0.63
R7190:Camta1	UTSW	4	151148523	missense	possibly damaging	0.57
R7215:Camta1	UTSW	4	151144737	missense	probably damaging	1.00
R7264:Camta1	UTSW	4	151453399	missense	probably damaging	1.00
R7403:Camta1	UTSW	4	151453295	nonsense	probably null
R7445:Camta1	UTSW	4	151144291	missense	possibly damaging	0.94
R7447:Camta1	UTSW	4	151083870	missense	probably benign	0.31
R7585:Camta1	UTSW	4	151144830	missense	probably damaging	1.00
R7751:Camta1	UTSW	4	151148406	splice site	probably null
R7881:Camta1	UTSW	4	151835876	missense	probably damaging	0.99
R7933:Camta1	UTSW	4	151083757	missense	probably damaging	0.99
R7960:Camta1	UTSW	4	151148533	missense	probably benign	0.01
R8057:Camta1	UTSW	4	151144032	missense	probably damaging	1.00
R8073:Camta1	UTSW	4	151078824	missense	probably damaging	1.00
R8241:Camta1	UTSW	4	151083825	missense	probably benign	0.00
R8247:Camta1	UTSW	4	151075264	missense	probably damaging	1.00
R8466:Camta1	UTSW	4	151086120	nonsense	probably null
X0063:Camta1	UTSW	4	151145247	missense	probably damaging	1.00
Z1176:Camta1	UTSW	4	151144385	missense	probably benign	0.06
Z1177:Camta1	UTSW	4	151077925	missense	probably damaging	1.00

Posted On

2012-12-06