Mutagenetix > Incidental Mutation

Incidental Mutation 'R6990:Camta1'

543189

Institutional Source

Beutler Lab

Gene Symbol

Camta1

Ensembl Gene

ENSMUSG00000014592

Gene Name

calmodulin binding transcription activator 1

Synonyms

2310058O09Rik, 1810059M14Rik

MMRRC Submission

045096-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.551) question?

Stock #

R6990 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

151143980-151946225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 151229501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 444 (F444L)

Ref Sequence

ENSEMBL: ENSMUSP00000095381 (fasta)

Gene Model

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

AlphaFold

A2A891

Predicted Effect

probably benign
Transcript: ENSMUST00000049790
AA Change: F444L

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592
AA Change: F444L

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: F444L

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592
AA Change: F444L

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 benign
Transcript: ENSMUST00000169423
AA Change: F444L

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592
AA Change: F444L

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	G	10: 78,902,925 (GRCm39)	T464P	probably damaging	Het
Abca16	A	G	7: 120,126,950 (GRCm39)	I1214V	probably benign	Het
Arap2	A	G	5: 62,833,860 (GRCm39)	F869S	probably damaging	Het
Astn2	G	T	4: 65,910,540 (GRCm39)	H431N	possibly damaging	Het
Bap1	A	G	14: 30,977,608 (GRCm39)	T308A	probably benign	Het
Bcr	G	A	10: 74,966,868 (GRCm39)	E492K	possibly damaging	Het
Bltp3b	A	G	10: 89,641,979 (GRCm39)	D1050G	probably benign	Het
Chd7	A	T	4: 8,844,525 (GRCm39)	T1545S	probably benign	Het
Dnmt1	A	T	9: 20,827,110 (GRCm39)	Y877*	probably null	Het
Fam13b	A	G	18: 34,630,500 (GRCm39)	V86A	possibly damaging	Het
Gm11562	T	A	11: 99,510,817 (GRCm39)	R128W	unknown	Het
Krt86	A	G	15: 101,371,714 (GRCm39)	I95V	probably benign	Het
Mroh2b	A	G	15: 4,942,284 (GRCm39)	T349A	possibly damaging	Het
Ms4a7	A	T	19: 11,310,605 (GRCm39)	L38Q	probably damaging	Het
Myo1h	T	C	5: 114,468,221 (GRCm39)	S339P	probably damaging	Het
Nf2	T	C	11: 4,749,944 (GRCm39)	I46V	probably benign	Het
Nr1h4	T	C	10: 89,290,792 (GRCm39)	D416G	probably benign	Het
Oga	G	A	19: 45,755,915 (GRCm39)	A576V	probably benign	Het
Or11l3	T	C	11: 58,516,284 (GRCm39)	E196G	probably damaging	Het
Or4p18	A	G	2: 88,232,639 (GRCm39)	M213T	probably benign	Het
Pde1c	C	G	6: 56,419,020 (GRCm39)	E87Q	possibly damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Pga5	A	T	19: 10,646,779 (GRCm39)	D317E	probably benign	Het
Pira2	T	A	7: 3,844,067 (GRCm39)	K568N	probably damaging	Het
Ppp2cb	A	G	8: 34,109,161 (GRCm39)	D290G	probably benign	Het
Sall4	T	C	2: 168,596,990 (GRCm39)	K617E	probably damaging	Het
Slc7a14	G	A	3: 31,277,728 (GRCm39)	P626S	possibly damaging	Het
Speer4b	A	T	5: 27,702,076 (GRCm39)	L228*	probably null	Het
Spns2	T	C	11: 72,380,447 (GRCm39)	T59A	probably benign	Het
Tbc1d5	A	T	17: 51,275,260 (GRCm39)	N78K	probably benign	Het
Tmem63a	T	C	1: 180,788,686 (GRCm39)	V341A	probably benign	Het
Trpt1	A	G	19: 6,975,683 (GRCm39)	T146A	probably benign	Het
Tyrp1	T	C	4: 80,753,674 (GRCm39)	C122R	probably damaging	Het
Uchl1	A	G	5: 66,839,818 (GRCm39)	E120G	possibly damaging	Het
Ucn3	C	T	13: 3,991,295 (GRCm39)	R119Q	possibly damaging	Het
Vmn2r2	T	G	3: 64,024,608 (GRCm39)	I658L	probably benign	Het
Vmn2r96	T	A	17: 18,804,082 (GRCm39)	V444E	probably benign	Het
Wdr54	A	C	6: 83,132,629 (GRCm39)		probably null	Het
Xcr1	A	G	9: 123,685,300 (GRCm39)	L154P	probably benign	Het
Zbtb26	T	C	2: 37,326,557 (GRCm39)	K160E	probably benign	Het
Zfp157	T	G	5: 138,454,772 (GRCm39)	Y323*	probably null	Het
Zfp850	A	T	7: 27,689,801 (GRCm39)	F136I	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
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
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'- GGTGCTAACCATCTCAGCTTTCAG -3'
(R):5'- TTGTCACAGGTGTGTCCAGC -3'

Sequencing Primer
(F):5'- AGCTTTCAGGCCCCCAC -3'
(R):5'- TGTGTCCAGCATGGCAG -3'

Posted On

2018-11-28