Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01523:Camta1'

89463

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: 0.698) question?

Stock #

IGL01523

Quality Score

Status

Chromosome

Chromosomal Location

150917322-151861876 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 151145050 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 442 (F442L)

Ref Sequence

ENSEMBL: ENSMUSP00000127916 (fasta)

Gene Model

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

AlphaFold

A2A891

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049790
AA Change: F442L

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592
AA Change: F442L

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

possibly damaging
Transcript: ENSMUST00000097774
AA Change: F442L

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592
AA Change: F442L

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

possibly damaging
Transcript: ENSMUST00000169423
AA Change: F442L

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592
AA Change: F442L

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,976,494	E246G	probably damaging	Het
B3galt5	T	A	16: 96,315,891	D241E	probably damaging	Het
Cntnap5b	A	T	1: 100,431,779	E709V	probably benign	Het
Ctnnal1	T	C	4: 56,835,243	I345V	probably damaging	Het
Evpl	T	C	11: 116,233,444	N183S	probably damaging	Het
Fam90a1b	T	C	X: 94,356,759	D155G	probably benign	Het
Fsip2	G	A	2: 82,977,519	S1394N	probably benign	Het
Gcnt2	A	T	13: 40,887,863	Q166L	probably benign	Het
Gpatch1	T	C	7: 35,308,338	D99G	probably null	Het
Grin2b	A	T	6: 136,044,265	W13R	probably null	Het
Hbb-bh1	C	T	7: 103,841,817	V127M	probably benign	Het
Hc	C	T	2: 35,039,238	M282I	probably benign	Het
Hirip3	A	G	7: 126,862,704	E57G	probably damaging	Het
Inpp5j	C	T	11: 3,495,932		probably null	Het
Krt84	A	T	15: 101,528,744	V328E	probably damaging	Het
Lrriq1	C	A	10: 103,218,116	E247*	probably null	Het
Mmrn2	T	A	14: 34,403,217	F918L	probably damaging	Het
Myh13	A	G	11: 67,347,943	E704G	possibly damaging	Het
Myo16	T	A	8: 10,370,908	N249K	probably damaging	Het
Nobox	C	A	6: 43,304,123	K472N	probably damaging	Het
Olfr3	T	A	2: 36,812,403	T230S	probably benign	Het
Orc4	A	T	2: 48,917,224	S232T	probably benign	Het
Pign	A	T	1: 105,653,178	Y159N	probably damaging	Het
Rere	T	A	4: 150,615,555	V1032E	possibly damaging	Het
Ror2	T	C	13: 53,118,963	Q210R	probably benign	Het
Sh3tc2	G	A	18: 61,990,883	R905Q	probably benign	Het
Ttn	A	G	2: 76,954,983	S683P	possibly damaging	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
IGL00823:Camta1	APN	4	151084601	missense	probably benign	0.02
IGL01361:Camta1	APN	4	151144692	missense	probably damaging	1.00
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
R9035:Camta1	UTSW	4	151144702	missense	probably benign	0.03
R9332:Camta1	UTSW	4	151144017	missense	possibly damaging	0.95
R9358:Camta1	UTSW	4	151138424	missense	probably damaging	1.00
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

2013-12-03