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

1810059M14Rik, 2310058O09Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.522) question?

Stock #

PIT4449001 (G1)

Quality Score

96.0077

Status

Not validated

Chromosome

Chromosomal Location

150917322-151861876 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 151131586 bp (GRCm38)

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: 83,967,982	N125S	probably benign	Het
BC048671	T	A	6: 90,305,163	L101I	probably damaging	Het
Cfh	C	A	1: 140,112,565	V598F	probably damaging	Het
Cyp2j7	G	T	4: 96,215,338	T320K	probably damaging	Het
Ddr1	A	G	17: 35,687,249	I468T	possibly damaging	Het
Dhx15	A	G	5: 52,160,958	V510A	probably damaging	Het
Dpp4	T	A	2: 62,356,644	K507N	probably benign	Het
Evpl	G	A	11: 116,233,399	T198M	possibly damaging	Het
Gabbr1	G	A	17: 37,056,350	V373I	probably damaging	Het
Gak	A	T	5: 108,580,925	S1049T	probably benign	Het
Gipr	C	T	7: 19,160,618	R253H	probably benign	Het
Gm3685	T	A	14: 7,043,960	M73L	probably benign	Het
Gm5168	C	T	X: 26,039,540	R129Q	probably null	Het
Kcnh1	T	A	1: 192,418,684	V555D	probably damaging	Het
Kif26b	T	C	1: 178,918,086	S1916P	probably damaging	Het
Lingo4	T	C	3: 94,401,932	V59A	probably benign	Het
Maats1	T	C	16: 38,328,358	E236G	probably damaging	Het
Mroh8	T	A	2: 157,225,534	Q635L	probably damaging	Het
Msh6	T	A	17: 87,986,188	D790E	probably damaging	Het
Nrxn1	A	T	17: 90,597,579	W809R	probably damaging	Het
Olfr201	C	A	16: 59,269,130	C179F	probably damaging	Het
Polr3d	T	C	14: 70,439,463	H397R	probably benign	Het
Pwp2	G	A	10: 78,178,470	T432I	probably benign	Het
Rad21	G	C	15: 51,973,243	F177L	probably benign	Het
Rnf182	G	A	13: 43,668,677	V235I	probably benign	Het
Scn11a	C	T	9: 119,769,948	C1172Y	probably damaging	Het
Sh2b3	A	G	5: 121,828,679	L124P	possibly damaging	Het
Six2	T	C	17: 85,685,478	N199S	probably benign	Het
Slc5a3	A	G	16: 92,077,814	D253G	probably benign	Het
Synm	A	G	7: 67,735,277	M879T	probably benign	Het
Tasp1	A	G	2: 139,910,535	I328T	possibly damaging	Het
Tbrg4	T	C	11: 6,619,689	Q309R	probably damaging	Het
Tcrg-C3	A	T	13: 19,263,362	R162*	probably null	Het
Tmtc2	A	G	10: 105,303,604	L687P	probably damaging	Het
Tufm	T	C	7: 126,487,449	M1T	probably null	Het
Vmn2r116	A	C	17: 23,388,947	L496F	probably benign	Het
Vmn2r75	C	T	7: 86,165,583	C234Y	probably damaging	Het
Wars2	G	T	3: 99,205,279	V162L	possibly damaging	Het
Zc3h11a	A	T	1: 133,624,611	V586D	probably benign	Het
Zdhhc5	A	T	2: 84,690,227	N535K	probably damaging	Het
Zfp52	T	C	17: 21,557,216	Y38H	probably damaging	Het
Zfp729b	T	C	13: 67,591,423	M908V	probably benign	Het
Zfp772	T	C	7: 7,204,351	I114V	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
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
R1549:Camta1	UTSW	4	151586463	missense	probably damaging	1.00
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
R9035:Camta1	UTSW	4	151144702	missense	probably benign	0.03
R9332:Camta1	UTSW	4	151144017	missense	possibly damaging	0.95
R9358:Camta1	UTSW	4	151138424	missense	probably damaging	1.00
R9626:Camta1	UTSW	4	151083830	missense	probably damaging	0.99
R9649:Camta1	UTSW	4	151131547	missense	possibly damaging	0.82
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'- ATAGGGCTCACAAGTAGCCAG -3'
(R):5'- GGGTTACTAGCTGGTTATCAACTGC -3'

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

Posted On

2019-06-07