Mutagenetix > Incidental Mutation

Incidental Mutation 'R5487:Camta1'

430400

Institutional Source

Beutler Lab

Gene Symbol

Camta1

Ensembl Gene

ENSMUSG00000014592

Gene Name

calmodulin binding transcription activator 1

Synonyms

2310058O09Rik, 1810059M14Rik

MMRRC Submission

043048-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.557) question?

Stock #

R5487 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

151143980-151946225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 151229211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 540 (E540D)

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: E540D

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

SMART Domains

Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592
AA Change: E540D

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: E540D

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

SMART Domains

Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592
AA Change: E540D

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: E540D

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

SMART Domains

Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592
AA Change: E540D

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

1x: 98.2%
3x: 97.1%
10x: 94.6%
20x: 89.0%

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
Abca8b	A	G	11: 109,844,340 (GRCm39)	V959A	probably damaging	Het
Alg3	A	T	16: 20,426,530 (GRCm39)	I115N	probably damaging	Het
Ash1l	A	G	3: 88,888,733 (GRCm39)	D204G	probably benign	Het
Cblc	T	C	7: 19,518,733 (GRCm39)	T413A	probably benign	Het
Ccdc122	T	A	14: 77,329,119 (GRCm39)	H57Q	probably benign	Het
Ccdc85a	A	T	11: 28,526,768 (GRCm39)	L280*	probably null	Het
Cd46	T	G	1: 194,750,478 (GRCm39)		probably null	Het
Cmklr1	C	G	5: 113,752,990 (GRCm39)	D4H	possibly damaging	Het
Dnaaf3	T	C	7: 4,526,864 (GRCm39)		probably null	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Ecpas	T	C	4: 58,809,421 (GRCm39)	D1651G	probably benign	Het
Eif2ak1	A	G	5: 143,833,981 (GRCm39)		probably null	Het
Erich4	A	G	7: 25,314,664 (GRCm39)	M83T	probably benign	Het
Fbxo24	C	T	5: 137,617,094 (GRCm39)	G331E	possibly damaging	Het
Fzd4	A	G	7: 89,056,615 (GRCm39)	I221V	probably benign	Het
G6pc2	T	C	2: 69,056,921 (GRCm39)	V189A	probably damaging	Het
Gm10663	A	C	8: 65,527,686 (GRCm39)	E1A	probably null	Het
Gm4871	C	A	5: 144,967,199 (GRCm39)	E178D	probably damaging	Het
Igdcc3	A	G	9: 65,088,866 (GRCm39)	E415G	probably damaging	Het
Kmt2a	A	T	9: 44,733,272 (GRCm39)		probably benign	Het
Krba1	T	C	6: 48,380,973 (GRCm39)	V103A	probably damaging	Het
Lcat	T	C	8: 106,666,296 (GRCm39)	K409E	probably benign	Het
Lrriq4	C	A	3: 30,714,144 (GRCm39)	N497K	probably benign	Het
Mical2	A	G	7: 111,919,842 (GRCm39)	T451A	probably damaging	Het
Noxo1	C	T	17: 24,917,291 (GRCm39)		probably benign	Het
Oas1a	A	G	5: 121,045,490 (GRCm39)	I17T	probably damaging	Het
Otog	A	T	7: 45,938,192 (GRCm39)	Y1967F	probably benign	Het
Pcdha9	A	T	18: 37,132,703 (GRCm39)	N591Y	probably damaging	Het
Plxna4	A	G	6: 32,494,218 (GRCm39)	Y133H	probably damaging	Het
Pou5f2	T	C	13: 78,173,118 (GRCm39)	L20P	probably benign	Het
Prkcb	T	A	7: 122,199,948 (GRCm39)	C586*	probably null	Het
Sema3b	A	T	9: 107,478,161 (GRCm39)	M408K	probably damaging	Het
Serpinf2	G	A	11: 75,324,031 (GRCm39)	T332I	probably damaging	Het
Tmbim1	A	G	1: 74,332,164 (GRCm39)	V121A	probably benign	Het
Tph2	C	T	10: 114,955,779 (GRCm39)	G338D	probably damaging	Het
Trpc2	GTGTCCTA	GTGTCCTATGTCCTA	7: 101,744,420 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,642,896 (GRCm39)	V13247M	probably damaging	Het
Uty	C	T	Y: 1,174,825 (GRCm39)	G192R	probably damaging	Het
Vmn2r65	G	T	7: 84,595,529 (GRCm39)	P385Q	possibly damaging	Het
Wdfy3	G	A	5: 101,984,140 (GRCm39)	R3489W	probably damaging	Het
Zfp750	A	G	11: 121,404,558 (GRCm39)	S106P	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
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
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

Predicted Primers

PCR Primer
(F):5'- GACGCGTAGTCCTTGTTAGAG -3'
(R):5'- ATGTGTCCGAAGAGCTGGTC -3'

Sequencing Primer
(F):5'- GAGTCTATGGCACTGAAGTCCATC -3'
(R):5'- GAGACCGCCATGAACTTCG -3'

Posted On

2016-10-05