Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03012:Camta1'

407797

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: 0.551) question?

Stock #

IGL03012

Quality Score

Status

Chromosome

Chromosomal Location

151143980-151946225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 151537756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 141 (K141N)

Ref Sequence

ENSEMBL: ENSMUSP00000127916 (fasta)

Gene Model

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

AlphaFold

A2A891

Predicted Effect

probably damaging
Transcript: ENSMUST00000049790
AA Change: K141N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592
AA Change: K141N

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: K141N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592
AA Change: K141N

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: ENSMUST00000169423
AA Change: K141N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592
AA Change: K141N

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	A	C	9: 118,986,014 (GRCm39)	S17A	probably benign	Het
Acp1	T	G	12: 30,945,948 (GRCm39)	N135T	probably benign	Het
Adamts2	A	G	11: 50,667,096 (GRCm39)		probably benign	Het
Arfgef2	C	T	2: 166,710,808 (GRCm39)		probably benign	Het
Atp10b	T	A	11: 43,085,482 (GRCm39)	I287N	probably damaging	Het
Carmil1	T	C	13: 24,220,355 (GRCm39)	D719G	probably benign	Het
Cntnap5c	T	A	17: 58,666,229 (GRCm39)	H1086Q	probably benign	Het
Dsg3	A	G	18: 20,670,300 (GRCm39)		probably null	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
G6pd2	A	G	5: 61,966,816 (GRCm39)	Y197C	probably damaging	Het
Il13ra1	G	T	X: 35,394,247 (GRCm39)		probably benign	Het
Ivl	G	A	3: 92,479,733 (GRCm39)	P111S	probably benign	Het
Kmt2a	T	C	9: 44,722,263 (GRCm39)		probably benign	Het
Lztr1	T	C	16: 17,339,348 (GRCm39)	S57P	possibly damaging	Het
Mtss1	T	G	15: 58,930,249 (GRCm39)	D32A	probably damaging	Het
Mylk	G	A	16: 34,773,151 (GRCm39)	D1250N	probably benign	Het
Ncln	A	G	10: 81,325,799 (GRCm39)	F349L	probably benign	Het
Pgap1	A	G	1: 54,572,572 (GRCm39)		probably benign	Het
Rarres2	T	C	6: 48,547,239 (GRCm39)	D107G	probably benign	Het
Ric3	T	C	7: 108,637,925 (GRCm39)	D276G	probably benign	Het
Trim54	A	G	5: 31,294,489 (GRCm39)	D339G	probably benign	Het
Trip11	G	A	12: 101,850,195 (GRCm39)	H1005Y	probably damaging	Het
Tulp4	G	T	17: 6,263,654 (GRCm39)		probably benign	Het
Unc93a	C	T	17: 13,328,495 (GRCm39)	E453K	probably benign	Het
Vmn1r181	A	T	7: 23,684,027 (GRCm39)	D164V	probably damaging	Het
Vmn1r78	T	A	7: 11,887,291 (GRCm39)	S301T	probably benign	Het
Vmn1r85	T	C	7: 12,818,692 (GRCm39)	N151D	probably benign	Het
Wnk2	T	C	13: 49,197,865 (GRCm39)	K2008E	probably damaging	Het
Wrap73	A	G	4: 154,229,691 (GRCm39)		probably benign	Het
Zfp408	G	A	2: 91,478,153 (GRCm39)	A41V	probably benign	Het
Zfp472	A	G	17: 33,196,545 (GRCm39)	S207G	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
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
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

2016-08-02