Mutagenetix > Incidental Mutation

Incidental Mutation 'R6550:Camta1'

521488

Institutional Source

Beutler Lab

Gene Symbol

Camta1

Ensembl Gene

ENSMUSG00000014592

Gene Name

calmodulin binding transcription activator 1

Synonyms

2310058O09Rik, 1810059M14Rik

MMRRC Submission

044675-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.551) question?

Stock #

R6550 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

151143980-151946225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 151222832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 908 (F908L)

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: F908L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592
AA Change: F908L

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: F908L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592
AA Change: F908L

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: ENSMUST00000143434

Predicted Effect

probably damaging
Transcript: ENSMUST00000169423
AA Change: F908L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592
AA Change: F908L

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

0.6070

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

98% (39/40)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apbb1ip	A	G	2: 22,748,245 (GRCm39)	D355G	probably damaging	Het
Asz1	T	C	6: 18,051,380 (GRCm39)	D433G	probably damaging	Het
Atl3	A	G	19: 7,499,503 (GRCm39)	T256A	probably benign	Het
Atp8b4	T	A	2: 126,266,113 (GRCm39)	T183S	probably damaging	Het
Bahcc1	C	T	11: 120,167,477 (GRCm39)	H1293Y	possibly damaging	Het
Bin2	A	G	15: 100,543,358 (GRCm39)	V243A	probably benign	Het
Cbx2	T	C	11: 118,919,851 (GRCm39)	V472A	possibly damaging	Het
Cd22	T	C	7: 30,576,977 (GRCm39)	D110G	probably benign	Het
Cfap69	A	T	5: 5,631,220 (GRCm39)	D764E	probably benign	Het
Col2a1	A	G	15: 97,874,674 (GRCm39)	I1321T	unknown	Het
Cyp2c67	G	T	19: 39,605,854 (GRCm39)	Y347*	probably null	Het
D630044L22Rik	A	T	17: 26,180,628 (GRCm39)	R66S	possibly damaging	Het
Defa27	A	C	8: 21,806,340 (GRCm39)	R46S	possibly damaging	Het
E330034G19Rik	A	G	14: 24,346,886 (GRCm39)	M58V	probably benign	Het
Efhb	G	T	17: 53,728,968 (GRCm39)	H574N	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Erlin1	A	T	19: 44,025,602 (GRCm39)		probably null	Het
Gm10912	C	T	2: 103,896,996 (GRCm39)	T45I	possibly damaging	Het
Hsh2d	C	A	8: 72,952,297 (GRCm39)	T156K	probably benign	Het
Lrrc49	G	T	9: 60,584,430 (GRCm39)	Q139K	probably benign	Het
Map3k21	A	G	8: 126,664,031 (GRCm39)	S531G	probably damaging	Het
Mcm2	A	G	6: 88,863,941 (GRCm39)		probably null	Het
Mtarc2	C	A	1: 184,551,539 (GRCm39)	R299L	probably damaging	Het
Myo9a	T	C	9: 59,775,482 (GRCm39)	F1031S	probably damaging	Het
Or1o1	G	A	17: 37,716,796 (GRCm39)	R119H	probably benign	Het
Or2n1d	C	T	17: 38,646,896 (GRCm39)	P283S	possibly damaging	Het
Pmfbp1	T	C	8: 110,246,839 (GRCm39)	V237A	possibly damaging	Het
Polrmt	C	A	10: 79,575,514 (GRCm39)	Q672H	probably damaging	Het
Pp2d1	T	C	17: 53,822,604 (GRCm39)	D154G	probably damaging	Het
Rars1	T	C	11: 35,724,010 (GRCm39)	I57V	probably benign	Het
Selplg	G	A	5: 113,958,210 (GRCm39)	P32L	probably benign	Het
Slc8b1	A	G	5: 120,662,082 (GRCm39)	E257G	probably damaging	Het
Spata31e3	G	A	13: 50,399,482 (GRCm39)	P948L	probably benign	Het
Tasor2	A	G	13: 3,640,519 (GRCm39)	V206A	possibly damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem87b	T	A	2: 128,666,385 (GRCm39)	H77Q	possibly damaging	Het
Tpr	C	T	1: 150,299,728 (GRCm39)	L1200F	probably damaging	Het
Trir	G	T	8: 85,756,549 (GRCm39)	V154L	probably damaging	Het
Wdfy3	A	G	5: 102,101,032 (GRCm39)	V195A	probably benign	Het
Zdhhc5	T	C	2: 84,526,685 (GRCm39)	I96V	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
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'- ATTAGACTGTGTGAGTGAGCAC -3'
(R):5'- AATGGTGTCATAGGGCCTGG -3'

Sequencing Primer
(F):5'- CACATCTTCACGGCTGAGGAAG -3'
(R):5'- AATCTGCATGTGTAGCCAGC -3'

Posted On

2018-06-06