Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4449001:Camta1'

555727

Institutional Source

Beutler Lab

Gene Symbol

Camta1

Ensembl Gene

ENSMUSG00000014592

Gene Name

calmodulin binding transcription activator 1

Synonyms

2310058O09Rik, 1810059M14Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.557) question?

Stock #

PIT4449001 (G1)

Quality Score

96.0077

Status

Not validated

Chromosome

Chromosomal Location

151143980-151946225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 151216043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 959 (L959P)

Ref Sequence

ENSEMBL: ENSMUSP00000054804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049790] [ENSMUST00000097774] [ENSMUST00000105668] [ENSMUST00000169423]

AlphaFold

A2A891

Predicted Effect

probably benign
Transcript: ENSMUST00000049790
AA Change: L959P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592
AA Change: L959P

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: L959P

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592
AA Change: L959P

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: ENSMUST00000105668

SMART Domains

Protein: ENSMUSP00000101293
Gene: ENSMUSG00000014592

Domain	Start	End	E-Value	Type
low complexity region	19	52	N/A	INTRINSIC
ANK	88	117	1.7e2	SMART
ANK	133	163	4.73e2	SMART
Blast:ANK	167	197	6e-10	BLAST
IQ	457	473	2.38e2	SMART
IQ	487	509	5.42e0	SMART
Pfam:IQ	512	527	5.1e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169423
AA Change: L959P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592
AA Change: L959P

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: 93.3%
3x: 90.8%
10x: 84.7%
20x: 71.6%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asf1b	A	G	8: 84,694,611 (GRCm39)	N125S	probably benign	Het
BC048671	T	A	6: 90,282,145 (GRCm39)	L101I	probably damaging	Het
Cfap91	T	C	16: 38,148,720 (GRCm39)	E236G	probably damaging	Het
Cfh	C	A	1: 140,040,303 (GRCm39)	V598F	probably damaging	Het
Cyp2j7	G	T	4: 96,103,575 (GRCm39)	T320K	probably damaging	Het
Ddr1	A	G	17: 35,998,141 (GRCm39)	I468T	possibly damaging	Het
Dhx15	A	G	5: 52,318,300 (GRCm39)	V510A	probably damaging	Het
Dpp4	T	A	2: 62,186,988 (GRCm39)	K507N	probably benign	Het
Evpl	G	A	11: 116,124,225 (GRCm39)	T198M	possibly damaging	Het
Gabbr1	G	A	17: 37,367,242 (GRCm39)	V373I	probably damaging	Het
Gak	A	T	5: 108,728,791 (GRCm39)	S1049T	probably benign	Het
Gipr	C	T	7: 18,894,543 (GRCm39)	R253H	probably benign	Het
Gm3685	T	A	14: 7,043,960 (GRCm38)	M73L	probably benign	Het
Gm5168	C	T	X: 25,994,840 (GRCm39)	R129Q	probably null	Het
Kcnh1	T	A	1: 192,100,992 (GRCm39)	V555D	probably damaging	Het
Kif26b	T	C	1: 178,745,651 (GRCm39)	S1916P	probably damaging	Het
Lingo4	T	C	3: 94,309,239 (GRCm39)	V59A	probably benign	Het
Mroh8	T	A	2: 157,067,454 (GRCm39)	Q635L	probably damaging	Het
Msh6	T	A	17: 88,293,616 (GRCm39)	D790E	probably damaging	Het
Nrxn1	A	T	17: 90,905,007 (GRCm39)	W809R	probably damaging	Het
Or5ac19	C	A	16: 59,089,493 (GRCm39)	C179F	probably damaging	Het
Polr3d	T	C	14: 70,676,903 (GRCm39)	H397R	probably benign	Het
Pwp2	G	A	10: 78,014,304 (GRCm39)	T432I	probably benign	Het
Rad21	G	C	15: 51,836,639 (GRCm39)	F177L	probably benign	Het
Rnf182	G	A	13: 43,822,153 (GRCm39)	V235I	probably benign	Het
Scn11a	C	T	9: 119,599,014 (GRCm39)	C1172Y	probably damaging	Het
Sh2b3	A	G	5: 121,966,742 (GRCm39)	L124P	possibly damaging	Het
Six2	T	C	17: 85,992,906 (GRCm39)	N199S	probably benign	Het
Slc5a3	A	G	16: 91,874,702 (GRCm39)	D253G	probably benign	Het
Synm	A	G	7: 67,385,025 (GRCm39)	M879T	probably benign	Het
Tasp1	A	G	2: 139,752,455 (GRCm39)	I328T	possibly damaging	Het
Tbrg4	T	C	11: 6,569,689 (GRCm39)	Q309R	probably damaging	Het
Tmtc2	A	G	10: 105,139,465 (GRCm39)	L687P	probably damaging	Het
Trgc3	A	T	13: 19,447,532 (GRCm39)	R162*	probably null	Het
Tufm	T	C	7: 126,086,621 (GRCm39)	M1T	probably null	Het
Vmn2r116	A	C	17: 23,607,921 (GRCm39)	L496F	probably benign	Het
Vmn2r75	C	T	7: 85,814,791 (GRCm39)	C234Y	probably damaging	Het
Wars2	G	T	3: 99,112,595 (GRCm39)	V162L	possibly damaging	Het
Zc3h11a	A	T	1: 133,552,349 (GRCm39)	V586D	probably benign	Het
Zdhhc5	A	T	2: 84,520,571 (GRCm39)	N535K	probably damaging	Het
Zfp52	T	C	17: 21,777,478 (GRCm39)	Y38H	probably damaging	Het
Zfp729b	T	C	13: 67,739,542 (GRCm39)	M908V	probably benign	Het
Zfp772	T	C	7: 7,207,350 (GRCm39)	I114V	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
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
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'- ATAGGGCTCACAAGTAGCCAG -3'
(R):5'- GGGTTACTAGCTGGTTATCAACTGC -3'

Sequencing Primer
(F):5'- TCTCAATCAATGGGAGGACTCTGC -3'
(R):5'- CTGGTTATCAACTGCAGGAGC -3'

Posted On

2019-06-07