Mutagenetix > Incidental Mutations

Incidental Mutation 'R1670:Camta1'

187538

Institutional Source

Beutler Lab

Gene Symbol

Camta1

Ensembl Gene

ENSMUSG00000014592

Gene Name

calmodulin binding transcription activator 1

Synonyms

1810059M14Rik, 2310058O09Rik

MMRRC Submission

039706-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.577) question?

Stock #

R1670 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150917322-151861876 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 151079771 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 340 (D340G)

Ref Sequence

ENSEMBL: ENSMUSP00000101295 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049790] [ENSMUST00000097774] [ENSMUST00000105668] [ENSMUST00000105670] [ENSMUST00000140030] [ENSMUST00000169423]

Predicted Effect

probably benign
Transcript: ENSMUST00000049790
AA Change: D1431G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592
AA Change: D1431G

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 benign
Transcript: ENSMUST00000097774
AA Change: D1431G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592
AA Change: D1431G

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
AA Change: D340G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101293
Gene: ENSMUSG00000014592
AA Change: D340G

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: ENSMUST00000105670
AA Change: D340G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000101295
Gene: ENSMUSG00000014592
AA Change: D340G

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	5e-10	BLAST
IQ	457	479	5.45e1	SMART
IQ	480	502	5.42e0	SMART
Pfam:IQ	505	520	5.1e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140030
AA Change: D8G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119067
Gene: ENSMUSG00000014592
AA Change: D8G

Domain	Start	End	E-Value	Type
IQ	111	133	5.45e1	SMART
IQ	134	156	5.42e0	SMART
Pfam:IQ	159	174	8.5e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169423
AA Change: D1431G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592
AA Change: D1431G

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

0.0918

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.3%

Validation Efficiency

97% (74/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	G	A	2: 130,712,379	P187S	probably damaging	Het
Abcc9	A	G	6: 142,594,722	V1497A	possibly damaging	Het
Adam15	T	C	3: 89,348,510		probably benign	Het
Angel2	T	A	1: 190,942,163	S371T	probably benign	Het
Atr	T	A	9: 95,861,456	N49K	probably benign	Het
Bace2	G	A	16: 97,412,135	M228I	probably damaging	Het
Bdp1	A	C	13: 100,027,433		probably null	Het
Calr	A	T	8: 84,844,119	D302E	probably benign	Het
Car11	C	T	7: 45,703,525	T236I	possibly damaging	Het
Cfap69	A	T	5: 5,586,409	S275T	probably benign	Het
Cib2	G	A	9: 54,548,369	R104W	probably damaging	Het
CN725425	T	C	15: 91,245,815	S294P	possibly damaging	Het
Coro7	G	A	16: 4,628,233	S876F	possibly damaging	Het
Cspg4	G	A	9: 56,897,403	V1833M	probably damaging	Het
Dennd6b	C	A	15: 89,185,337		probably benign	Het
Dhx30	A	T	9: 110,085,273	Y979N	possibly damaging	Het
Dnah8	A	T	17: 30,725,124	I1772F	probably damaging	Het
Dync2h1	A	T	9: 6,993,942	I3976N	possibly damaging	Het
Ebi3	T	C	17: 55,954,479	I125T	probably damaging	Het
Elfn2	C	T	15: 78,672,368	A660T	probably benign	Het
F12	C	T	13: 55,421,533	C209Y	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam126a	T	A	5: 23,999,991	M1L	possibly damaging	Het
Fgfr2	T	A	7: 130,180,457	D413V	probably damaging	Het
Gdf10	T	A	14: 33,932,043	I169N	possibly damaging	Het
Gdnf	T	C	15: 7,815,649	V41A	probably benign	Het
Gm9857	A	T	3: 108,940,162		probably benign	Het
Gpatch11	A	G	17: 78,839,100	E58G	possibly damaging	Het
Gpr55	A	G	1: 85,941,415	V148A	possibly damaging	Het
Gucy1b1	A	G	3: 82,045,460	I222T	probably benign	Het
Hnf4a	T	C	2: 163,562,576	S227P	probably damaging	Het
Hsfy2	A	G	1: 56,636,389	S330P	possibly damaging	Het
Ift122	T	C	6: 115,923,883	V1054A	probably benign	Het
Il27	T	A	7: 126,589,475	E175D	probably benign	Het
Lactb2	A	T	1: 13,660,417	S12T	probably damaging	Het
Lrfn2	T	C	17: 49,096,577	V576A	probably benign	Het
Mansc4	C	G	6: 147,075,191	R309T	possibly damaging	Het
Med12l	AACAGCA	AACAGCAACAGCA	3: 59,275,958		probably benign	Het
Mrpl16	C	T	19: 11,774,595	R240*	probably null	Het
Muc3	A	G	5: 137,143,995	V70A	probably benign	Het
Ndnf	A	G	6: 65,703,070	D111G	probably benign	Het
Nek4	T	C	14: 30,982,427	F688S	probably damaging	Het
Nkx2-6	T	A	14: 69,174,677	M98K	probably benign	Het
Nup188	T	C	2: 30,340,655	S1402P	probably benign	Het
Olfr1036	T	A	2: 86,075,250	V170D	probably benign	Het
Olfr1307	C	T	2: 111,944,919	C179Y	probably damaging	Het
Olfr205	A	T	16: 59,329,244	N88K	probably benign	Het
Olfr206	T	C	16: 59,345,427	I91M	possibly damaging	Het
Olfr330	A	T	11: 58,529,411	S192T	probably damaging	Het
Olfr418	T	A	1: 173,270,900	S242T	probably damaging	Het
Olfr556	A	G	7: 102,670,402	T161A	possibly damaging	Het
Parp10	A	T	15: 76,242,070	V306E	probably benign	Het
Pcnx3	A	G	19: 5,673,315	L1284P	probably damaging	Het
Pld1	A	T	3: 28,049,240	I365F	probably benign	Het
Pnisr	A	G	4: 21,865,893	D294G	probably damaging	Het
Pogz	C	T	3: 94,878,849	T863I	probably benign	Het
Ptprn2	A	C	12: 116,722,172	T84P	possibly damaging	Het
Rln1	C	T	19: 29,332,068	E104K	possibly damaging	Het
Rnf38	A	G	4: 44,138,681	S271P	probably damaging	Het
Rngtt	A	G	4: 33,368,660	T398A	probably benign	Het
Rprd2	G	T	3: 95,764,803	T1096K	probably damaging	Het
Sema3e	C	T	5: 14,162,185		probably benign	Het
Sema5a	T	A	15: 32,548,799	C140S	probably damaging	Het
Shpk	A	C	11: 73,222,931	D390A	probably benign	Het
Slc22a20	C	T	19: 5,972,848		probably benign	Het
Steap2	A	G	5: 5,677,393	V314A	possibly damaging	Het
Stxbp5l	A	G	16: 37,290,927		probably null	Het
Tgm3	G	T	2: 130,041,768	E449*	probably null	Het
Tmem68	A	C	4: 3,560,627	L186V	probably damaging	Het
Ttc41	T	A	10: 86,776,252	W1130R	possibly damaging	Het
Ttpal	T	C	2: 163,615,366	F253L	possibly damaging	Het
Vmn2r99	G	T	17: 19,362,252	V40F	probably benign	Het
Xkr9	G	A	1: 13,700,943	V228M	probably damaging	Het
Zc3h7b	C	T	15: 81,777,067	A369V	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
PIT4449001:Camta1	UTSW	4	151131586	missense	probably benign	0.00
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
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
R7881:Camta1	UTSW	4	151835876	missense	probably damaging	0.99
R7964:Camta1	UTSW	4	151835876	missense	probably damaging	0.99
X0063:Camta1	UTSW	4	151145247	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTGTGCTCTCCTTGGGAAAGTC -3'
(R):5'- CTGCACCAGGTGTGAGATCCATAAC -3'

Sequencing Primer
(F):5'- TGGGAAAGTCTCTCTTTGCC -3'
(R):5'- CTCAGGGTGAATCGTATCCTAAG -3'

Posted On

2014-05-09