Mutagenetix > Incidental Mutations

Incidental Mutation 'R1549:Camta1'

169774

Institutional Source

Beutler Lab

Gene Symbol

Camta1

Ensembl Gene

ENSMUSG00000014592

Gene Name

calmodulin binding transcription activator 1

Synonyms

1810059M14Rik, 2310058O09Rik

MMRRC Submission

039588-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.596) question?

Stock #

R1549 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150917322-151861876 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 151586463 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 85 (I85T)

Ref Sequence

ENSEMBL: ENSMUSP00000127916 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000049790
AA Change: I85T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592
AA Change: I85T

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: I85T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592
AA Change: I85T

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

noncoding transcript
Transcript: ENSMUST00000155685

Predicted Effect

probably damaging
Transcript: ENSMUST00000169423
AA Change: I85T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592
AA Change: I85T

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

Meta Mutation Damage Score

0.2876

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 90.8%

Validation Efficiency

97% (58/60)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,416,792	I157K	probably benign	Het
Ank3	A	T	10: 70,001,982	N727Y	probably benign	Het
Atg16l1	A	G	1: 87,774,188	T251A	probably benign	Het
Bcl11b	T	A	12: 107,917,163	I226F	probably damaging	Het
Birc6	A	G	17: 74,662,742	H4260R	probably damaging	Het
Cblb	A	G	16: 52,033,010		probably benign	Het
Ccnd1	T	G	7: 144,937,336	I178L	probably benign	Het
Clcn4	A	G	7: 7,291,682	V329A	probably damaging	Het
Col17a1	C	T	19: 47,648,910		probably benign	Het
Col7a1	A	G	9: 108,955,966	T254A	unknown	Het
Ctif	C	A	18: 75,565,025	R188L	probably damaging	Het
Cyp2c69	A	T	19: 39,842,986	L461Q	probably benign	Het
Ddc	A	G	11: 11,846,656		probably null	Het
Dpp10	T	A	1: 123,341,380		probably null	Het
Eef2	CCC	CCCC	10: 81,178,768		probably null	Het
Eif2b4	T	C	5: 31,192,921	E19G	possibly damaging	Het
Fmnl2	A	G	2: 53,105,537	E424G	probably damaging	Het
Galnt14	A	G	17: 73,525,313	L269P	possibly damaging	Het
Gm14409	T	C	2: 177,265,585	E40G	probably damaging	Het
Gm2381	T	A	7: 42,822,401	H18L	probably benign	Het
Gpbp1	G	T	13: 111,436,579	D326E	probably benign	Het
Gpr162	C	T	6: 124,860,088	R331H	probably damaging	Het
Iigp1	G	A	18: 60,389,876	G22D	probably benign	Het
Kcns3	T	C	12: 11,092,083	H205R	probably damaging	Het
Klk1b26	C	T	7: 44,016,402		probably benign	Het
Lime1	A	G	2: 181,383,376	Y242C	probably benign	Het
Manba	A	G	3: 135,544,806	D398G	probably damaging	Het
Mapk3	A	T	7: 126,763,512	K219*	probably null	Het
Mdfic	G	T	6: 15,799,845	G324C	probably damaging	Het
Mdga1	G	A	17: 29,837,998	H837Y	probably damaging	Het
Nck1	T	A	9: 100,497,872	M109L	probably benign	Het
Olfr1369-ps1	T	C	13: 21,116,118	V142A	probably benign	Het
Olfr412	A	G	11: 74,365,250	I194V	probably benign	Het
Pabpc1l	G	T	2: 164,037,171	V313F	possibly damaging	Het
Phf3	C	T	1: 30,804,842	V1679I	probably benign	Het
Pou4f1	T	C	14: 104,467,640	I32V	probably benign	Het
Pspc1	T	G	14: 56,748,941	H351P	probably damaging	Het
Ptk7	T	C	17: 46,572,652	E829G	probably damaging	Het
Rab23	A	G	1: 33,738,297	Y164C	possibly damaging	Het
Slc36a3	A	G	11: 55,142,770	W141R	probably damaging	Het
Slc7a14	T	C	3: 31,224,118	E446G	possibly damaging	Het
Stim2	G	A	5: 54,105,325	R303Q	probably damaging	Het
Tbcd	A	G	11: 121,560,753	I550V	probably benign	Het
Tmed3	A	C	9: 89,699,945	L155R	probably damaging	Het
Trav16d-dv11	A	G	14: 53,047,342		probably benign	Het
Ubap2	C	T	4: 41,199,872	A752T	probably benign	Het
Usp16	G	T	16: 87,464,834	V113F	probably damaging	Het
Vmn2r12	T	G	5: 109,092,830	Y139S	probably benign	Het
Vmn2r5	G	T	3: 64,504,000	D382E	probably damaging	Het
Zfp217	A	C	2: 170,114,470	N869K	probably benign	Het
Zswim2	G	T	2: 83,923,748	D189E	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
IGL00823:Camta1	APN	4	151084601	missense	probably benign	0.02
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
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

Predicted Primers

PCR Primer
(F):5'- AGCCCAGAGCCATCCTGTGAAAAG -3'
(R):5'- TAGAAAAGTCCGCGTTCCAGCC -3'

Sequencing Primer
(F):5'- CGCGTCTTGGACCAATTAATGAG -3'
(R):5'- TTCTCAGGGTCCAACATGAG -3'

Posted On

2014-04-13