Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02045:Camta1'

184926

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Camta1

Ensembl Gene

ENSMUSG00000014592

Gene Name

calmodulin binding transcription activator 1

Synonyms

2310058O09Rik, 1810059M14Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.557) question?

Stock #

IGL02045

Quality Score

Status

Chromosome

Chromosomal Location

151143980-151946225 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 151158442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127916 (fasta)

Gene Model

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

AlphaFold

A2A891

Predicted Effect

probably null
Transcript: ENSMUST00000049790

SMART Domains

Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592

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 null
Transcript: ENSMUST00000097774

SMART Domains

Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592

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 null
Transcript: ENSMUST00000105668

SMART Domains

Protein: ENSMUSP00000101293
Gene: ENSMUSG00000014592

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 null
Transcript: ENSMUST00000105670

SMART Domains

Protein: ENSMUSP00000101295
Gene: ENSMUSG00000014592

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 null
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

probably null
Transcript: ENSMUST00000169423

SMART Domains

Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	A	5: 114,378,721 (GRCm39)	H2044Q	possibly damaging	Het
Ankrd12	A	T	17: 66,293,244 (GRCm39)	S730T	probably benign	Het
Ano9	A	T	7: 140,682,382 (GRCm39)	N655K	probably benign	Het
Ap1ar	A	T	3: 127,609,298 (GRCm39)	Y108N	probably damaging	Het
Asap3	A	G	4: 135,954,752 (GRCm39)	I55V	probably benign	Het
Barx2	T	C	9: 31,770,094 (GRCm39)	T145A	probably damaging	Het
Ces2e	C	T	8: 105,657,290 (GRCm39)		probably benign	Het
Cflar	T	C	1: 58,791,903 (GRCm39)	I405T	probably benign	Het
Cibar2	T	A	8: 120,896,461 (GRCm39)	K174*	probably null	Het
Cyp51	A	G	5: 4,133,247 (GRCm39)	S464P	probably damaging	Het
Ermard	G	A	17: 15,271,826 (GRCm39)		probably benign	Het
Glb1l2	T	C	9: 26,707,841 (GRCm39)	T49A	probably benign	Het
Gls	A	G	1: 52,258,674 (GRCm39)	V198A	probably benign	Het
Heatr5b	A	T	17: 79,115,855 (GRCm39)	I867N	probably damaging	Het
Ighv1-14	A	T	12: 114,610,334 (GRCm39)		noncoding transcript	Het
Iqsec1	T	C	6: 90,641,051 (GRCm39)	K1022E	probably damaging	Het
Myo10	A	G	15: 25,726,574 (GRCm39)	T299A	probably benign	Het
Nr2e3	A	T	9: 59,856,291 (GRCm39)	M82K	probably benign	Het
Ntpcr	A	G	8: 126,472,191 (GRCm39)		probably benign	Het
Or1e26	A	G	11: 73,480,058 (GRCm39)	C169R	probably damaging	Het
Or4d10b	T	C	19: 12,036,253 (GRCm39)	T288A	possibly damaging	Het
Or52s6	A	G	7: 103,092,159 (GRCm39)	L57P	probably damaging	Het
Or5p80	A	G	7: 108,229,739 (GRCm39)	D180G	probably damaging	Het
Or6c70	A	T	10: 129,710,091 (GRCm39)	D178E	probably benign	Het
Prkcb	A	G	7: 122,189,390 (GRCm39)	D506G	probably damaging	Het
Rasgef1a	A	G	6: 118,066,404 (GRCm39)	I470V	probably benign	Het
Rbm27	A	G	18: 42,452,978 (GRCm39)	E514G	possibly damaging	Het
Rgs22	G	A	15: 36,013,300 (GRCm39)	A1048V	probably benign	Het
Secisbp2l	A	G	2: 125,617,498 (GRCm39)	F60L	possibly damaging	Het
Six4	T	C	12: 73,155,429 (GRCm39)	S505G	probably benign	Het
Skint1	T	A	4: 111,882,727 (GRCm39)	V257E	possibly damaging	Het
Smad9	A	G	3: 54,693,593 (GRCm39)	N174S	possibly damaging	Het
Smc2	A	G	4: 52,462,914 (GRCm39)	N635D	probably benign	Het
Stradb	T	A	1: 59,028,937 (GRCm39)	I135N	probably damaging	Het
Syt12	T	C	19: 4,497,762 (GRCm39)	T407A	probably damaging	Het
Tmc8	T	A	11: 117,677,346 (GRCm39)	I322N	probably damaging	Het
Tnip1	A	C	11: 54,802,365 (GRCm39)	*648G	probably null	Het
Ttc3	T	C	16: 94,210,540 (GRCm39)		probably benign	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
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
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

Posted On

2014-05-07