Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02548:Camta2'

297937

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Camta2

Ensembl Gene

ENSMUSG00000040712

Gene Name

calmodulin binding transcription activator 2

Synonyms

Kiaa0909-hp

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.461) question?

Stock #

IGL02548

Quality Score

Status

Chromosome

Chromosomal Location

70560289-70578931 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70561511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1113 (F1113L)

Ref Sequence

ENSEMBL: ENSMUSP00000104184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018431] [ENSMUST00000036299] [ENSMUST00000100933] [ENSMUST00000108544] [ENSMUST00000108545] [ENSMUST00000119120] [ENSMUST00000120261] [ENSMUST00000145823] [ENSMUST00000129434]

AlphaFold

Q80Y50

Predicted Effect

probably benign
Transcript: ENSMUST00000018431

SMART Domains

Protein: ENSMUSP00000018431
Gene: ENSMUSG00000018287

Domain	Start	End	E-Value	Type
R3H	31	109	3.85e-21	SMART
low complexity region	130	152	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000036299
AA Change: F1118L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043792
Gene: ENSMUSG00000040712
AA Change: F1118L

Domain	Start	End	E-Value	Type
CG-1	34	155	1.07e-83	SMART
low complexity region	232	243	N/A	INTRINSIC
low complexity region	273	291	N/A	INTRINSIC
low complexity region	294	305	N/A	INTRINSIC
low complexity region	314	329	N/A	INTRINSIC
low complexity region	370	380	N/A	INTRINSIC
low complexity region	417	435	N/A	INTRINSIC
low complexity region	461	485	N/A	INTRINSIC
low complexity region	501	514	N/A	INTRINSIC
Pfam:TIG	541	621	6.2e-13	PFAM
low complexity region	660	679	N/A	INTRINSIC
Blast:ANK	717	750	7e-12	BLAST
SCOP:d1myo__	718	816	2e-15	SMART
Blast:ANK	762	792	4e-11	BLAST
low complexity region	829	839	N/A	INTRINSIC
low complexity region	844	853	N/A	INTRINSIC
low complexity region	861	882	N/A	INTRINSIC
IQ	1053	1075	2.59e2	SMART
IQ	1076	1092	2.38e2	SMART
IQ	1106	1128	5.42e0	SMART
low complexity region	1140	1157	N/A	INTRINSIC
low complexity region	1180	1190	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100933
AA Change: F1108L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098493
Gene: ENSMUSG00000040712
AA Change: F1108L

Domain	Start	End	E-Value	Type
CG-1	36	152	8.08e-88	SMART
low complexity region	229	240	N/A	INTRINSIC
low complexity region	270	288	N/A	INTRINSIC
low complexity region	291	302	N/A	INTRINSIC
low complexity region	311	326	N/A	INTRINSIC
low complexity region	367	377	N/A	INTRINSIC
low complexity region	414	432	N/A	INTRINSIC
low complexity region	458	482	N/A	INTRINSIC
low complexity region	498	511	N/A	INTRINSIC
Pfam:TIG	538	618	1.2e-8	PFAM
low complexity region	657	676	N/A	INTRINSIC
Blast:ANK	714	747	8e-12	BLAST
SCOP:d1myo__	715	813	2e-15	SMART
Blast:ANK	759	789	4e-11	BLAST
low complexity region	826	836	N/A	INTRINSIC
low complexity region	841	850	N/A	INTRINSIC
low complexity region	858	879	N/A	INTRINSIC
IQ	1050	1072	2.59e2	SMART
IQ	1073	1095	1.18e1	SMART
IQ	1096	1118	5.42e0	SMART
low complexity region	1130	1147	N/A	INTRINSIC
low complexity region	1170	1180	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108544
AA Change: F1113L

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

SMART Domains

Protein: ENSMUSP00000104184
Gene: ENSMUSG00000040712
AA Change: F1113L

Domain	Start	End	E-Value	Type
CG-1	34	150	8.08e-88	SMART
low complexity region	227	238	N/A	INTRINSIC
low complexity region	268	286	N/A	INTRINSIC
low complexity region	289	300	N/A	INTRINSIC
low complexity region	309	324	N/A	INTRINSIC
low complexity region	365	375	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	456	480	N/A	INTRINSIC
low complexity region	496	509	N/A	INTRINSIC
Pfam:TIG	536	616	1.2e-8	PFAM
low complexity region	655	674	N/A	INTRINSIC
Blast:ANK	712	745	7e-12	BLAST
SCOP:d1myo__	713	811	2e-15	SMART
Blast:ANK	757	787	4e-11	BLAST
low complexity region	824	834	N/A	INTRINSIC
low complexity region	839	848	N/A	INTRINSIC
low complexity region	856	877	N/A	INTRINSIC
IQ	1048	1070	2.59e2	SMART
IQ	1071	1087	2.38e2	SMART
IQ	1101	1123	5.42e0	SMART
low complexity region	1135	1152	N/A	INTRINSIC
low complexity region	1175	1185	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108545
AA Change: F1082L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104185
Gene: ENSMUSG00000040712
AA Change: F1082L

Domain	Start	End	E-Value	Type
CG-1	34	126	3.23e-55	SMART
low complexity region	203	214	N/A	INTRINSIC
low complexity region	244	262	N/A	INTRINSIC
low complexity region	265	276	N/A	INTRINSIC
low complexity region	285	300	N/A	INTRINSIC
low complexity region	341	351	N/A	INTRINSIC
low complexity region	388	406	N/A	INTRINSIC
low complexity region	432	456	N/A	INTRINSIC
low complexity region	472	485	N/A	INTRINSIC
Pfam:TIG	512	592	1.1e-8	PFAM
low complexity region	631	650	N/A	INTRINSIC
Blast:ANK	688	721	7e-12	BLAST
SCOP:d1myo__	689	787	2e-15	SMART
Blast:ANK	733	763	5e-13	BLAST
low complexity region	800	810	N/A	INTRINSIC
low complexity region	815	824	N/A	INTRINSIC
low complexity region	832	853	N/A	INTRINSIC
IQ	1024	1046	2.59e2	SMART
IQ	1047	1069	1.18e1	SMART
IQ	1070	1092	5.42e0	SMART
low complexity region	1104	1121	N/A	INTRINSIC
low complexity region	1144	1154	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119120
AA Change: F1106L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113847
Gene: ENSMUSG00000040712
AA Change: F1106L

Domain	Start	End	E-Value	Type
CG-1	34	150	8.08e-88	SMART
low complexity region	227	238	N/A	INTRINSIC
low complexity region	268	286	N/A	INTRINSIC
low complexity region	289	300	N/A	INTRINSIC
low complexity region	309	324	N/A	INTRINSIC
low complexity region	365	375	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	456	480	N/A	INTRINSIC
low complexity region	496	509	N/A	INTRINSIC
Pfam:TIG	536	616	1.1e-8	PFAM
low complexity region	655	674	N/A	INTRINSIC
Blast:ANK	712	745	7e-12	BLAST
SCOP:d1myo__	713	811	2e-15	SMART
Blast:ANK	757	787	8e-13	BLAST
low complexity region	824	834	N/A	INTRINSIC
low complexity region	839	848	N/A	INTRINSIC
low complexity region	856	877	N/A	INTRINSIC
IQ	1048	1070	2.59e2	SMART
IQ	1071	1093	1.18e1	SMART
IQ	1094	1116	5.42e0	SMART
low complexity region	1128	1145	N/A	INTRINSIC
low complexity region	1168	1178	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120261
AA Change: F1089L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113667
Gene: ENSMUSG00000040712
AA Change: F1089L

Domain	Start	End	E-Value	Type
CG-1	34	126	3.23e-55	SMART
low complexity region	203	214	N/A	INTRINSIC
low complexity region	244	262	N/A	INTRINSIC
low complexity region	265	276	N/A	INTRINSIC
low complexity region	285	300	N/A	INTRINSIC
low complexity region	341	351	N/A	INTRINSIC
low complexity region	388	406	N/A	INTRINSIC
low complexity region	432	456	N/A	INTRINSIC
low complexity region	472	485	N/A	INTRINSIC
Pfam:TIG	512	592	1e-8	PFAM
low complexity region	631	650	N/A	INTRINSIC
Blast:ANK	688	721	7e-12	BLAST
SCOP:d1myo__	689	787	2e-15	SMART
Blast:ANK	733	763	7e-13	BLAST
low complexity region	800	810	N/A	INTRINSIC
low complexity region	815	824	N/A	INTRINSIC
low complexity region	832	853	N/A	INTRINSIC
IQ	1024	1046	2.59e2	SMART
IQ	1047	1063	2.38e2	SMART
IQ	1077	1099	5.42e0	SMART
low complexity region	1111	1128	N/A	INTRINSIC
low complexity region	1151	1161	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125687

Predicted Effect

probably benign
Transcript: ENSMUST00000145823

SMART Domains

Protein: ENSMUSP00000123602
Gene: ENSMUSG00000040712

Domain	Start	End	E-Value	Type
CG-1	34	137	2.55e-44	SMART
low complexity region	146	165	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129434

SMART Domains

Protein: ENSMUSP00000115098
Gene: ENSMUSG00000018287

Domain	Start	End	E-Value	Type
R3H	22	99	3.06e-15	SMART
low complexity region	120	142	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the calmodulin-binding transcription activator protein family. Members of this family share a common domain structure that consists of a transcription activation domain, a DNA-binding domain, and a calmodulin-binding domain. The encoded protein may be a transcriptional coactivator of genes involved in cardiac growth. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and free of obvious cardiac defects, but show reduced pathophysiologic cardiac hypertrophy in response to diverse stress stimuli. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	G	A	7: 45,654,686 (GRCm39)	A545V	probably damaging	Het
Adam29	A	T	8: 56,325,902 (GRCm39)	L184*	probably null	Het
Ap1g1	C	T	8: 110,576,254 (GRCm39)	A432V	probably damaging	Het
Atrn	C	T	2: 130,814,202 (GRCm39)	T716I	probably damaging	Het
Bahd1	C	A	2: 118,747,526 (GRCm39)	Q382K	possibly damaging	Het
Barhl2	A	G	5: 106,603,391 (GRCm39)	V256A	probably benign	Het
Cdh23	G	T	10: 60,485,901 (GRCm39)	T38K	probably benign	Het
Cmtm3	T	C	8: 105,071,437 (GRCm39)	L111P	probably damaging	Het
Col27a1	T	C	4: 63,236,492 (GRCm39)		probably benign	Het
Cyp2c29	G	A	19: 39,279,291 (GRCm39)	G96D	possibly damaging	Het
Flt1	C	A	5: 147,576,058 (GRCm39)	R650L	probably benign	Het
Fpr1	T	A	17: 18,096,915 (GRCm39)	E358V	probably benign	Het
Ggnbp2	A	T	11: 84,753,112 (GRCm39)	N42K	possibly damaging	Het
Gldc	T	C	19: 30,077,299 (GRCm39)	T958A	probably benign	Het
Gm3573	A	G	14: 42,009,452 (GRCm39)		probably null	Het
Hspbp1	T	C	7: 4,684,840 (GRCm39)		probably benign	Het
Jhy	G	T	9: 40,828,471 (GRCm39)	Y478*	probably null	Het
Kiz	A	G	2: 146,712,690 (GRCm39)	E118G	probably damaging	Het
Klhdc1	A	G	12: 69,300,492 (GRCm39)	Y144C	probably benign	Het
Lamc3	A	T	2: 31,810,674 (GRCm39)	Y848F	probably benign	Het
Mixl1	T	C	1: 180,522,269 (GRCm39)	E204G	probably benign	Het
Muc2	T	A	7: 141,305,594 (GRCm39)	C202S	probably damaging	Het
Nfatc1	T	C	18: 80,741,113 (GRCm39)	S282G	probably damaging	Het
Or2j6	T	A	7: 139,980,575 (GRCm39)	Y128F	probably damaging	Het
Or5b111	T	C	19: 13,291,302 (GRCm39)	M116V	probably damaging	Het
Or5k8	C	A	16: 58,644,691 (GRCm39)	C127F	probably benign	Het
Orc2	A	T	1: 58,505,281 (GRCm39)		probably benign	Het
Pcdhb10	T	C	18: 37,545,743 (GRCm39)	I273T	probably benign	Het
Pdzph1	G	A	17: 59,280,386 (GRCm39)	T632I	probably benign	Het
Phf1	A	G	17: 27,154,600 (GRCm39)	Y225C	probably damaging	Het
Pramel17	T	A	4: 101,692,770 (GRCm39)	Y410F	probably damaging	Het
Prcp	T	C	7: 92,550,382 (GRCm39)	F60L	probably damaging	Het
Psg21	C	T	7: 18,388,961 (GRCm39)	V44I	possibly damaging	Het
Ptgdr	C	T	14: 45,096,071 (GRCm39)	V214M	probably damaging	Het
Pth1r	G	A	9: 110,556,748 (GRCm39)	R181W	probably damaging	Het
Ralgapb	A	G	2: 158,286,585 (GRCm39)	I343M	probably damaging	Het
Retreg1	C	T	15: 25,895,204 (GRCm39)	Q128*	probably null	Het
Rrbp1	T	C	2: 143,791,679 (GRCm39)		probably benign	Het
Skint5	T	A	4: 113,588,273 (GRCm39)	M726L	unknown	Het
Slc6a18	T	C	13: 73,818,114 (GRCm39)	Y301C	probably damaging	Het
Slc8a3	G	A	12: 81,250,930 (GRCm39)		probably benign	Het
Tacr3	C	A	3: 134,535,232 (GRCm39)	Q67K	probably damaging	Het
Tfrc	A	T	16: 32,443,640 (GRCm39)	K534*	probably null	Het
Timp3	T	A	10: 86,174,315 (GRCm39)	M67K	probably benign	Het
Tmem120a	C	T	5: 135,765,628 (GRCm39)	E179K	probably damaging	Het
Tomm40l	G	A	1: 171,049,216 (GRCm39)		probably benign	Het
Tubal3	A	G	13: 3,980,554 (GRCm39)	R89G	probably benign	Het
Wdr35	A	T	12: 9,074,297 (GRCm39)	N976I	probably benign	Het
Zfp292	T	C	4: 34,805,416 (GRCm39)	T2543A	probably damaging	Het
Zfp976	T	A	7: 42,261,953 (GRCm39)	H628L	unknown	Het
Zmynd8	A	G	2: 165,675,325 (GRCm39)	V301A	probably damaging	Het

Other mutations in Camta2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01022:Camta2	APN	11	70,562,308 (GRCm39)	nonsense	probably null
IGL01472:Camta2	APN	11	70,574,950 (GRCm39)	missense	probably damaging	1.00
IGL02794:Camta2	APN	11	70,566,484 (GRCm39)	missense	possibly damaging	0.94
IGL02983:Camta2	APN	11	70,562,848 (GRCm39)	missense	probably damaging	0.99
IGL03035:Camta2	APN	11	70,562,335 (GRCm39)	nonsense	probably null
weeping	UTSW	11	70,574,134 (GRCm39)	missense	probably damaging	1.00
Willow	UTSW	11	70,569,151 (GRCm39)	missense	probably damaging	1.00
P0027:Camta2	UTSW	11	70,574,831 (GRCm39)	missense	probably damaging	1.00
R0360:Camta2	UTSW	11	70,574,136 (GRCm39)	missense	probably damaging	1.00
R0364:Camta2	UTSW	11	70,574,136 (GRCm39)	missense	probably damaging	1.00
R0541:Camta2	UTSW	11	70,572,447 (GRCm39)	missense	probably benign	0.01
R0600:Camta2	UTSW	11	70,564,785 (GRCm39)	missense	possibly damaging	0.94
R0630:Camta2	UTSW	11	70,569,131 (GRCm39)	missense	probably damaging	1.00
R1301:Camta2	UTSW	11	70,567,230 (GRCm39)	missense	probably benign	0.18
R1346:Camta2	UTSW	11	70,567,293 (GRCm39)	missense	possibly damaging	0.89
R1826:Camta2	UTSW	11	70,574,134 (GRCm39)	missense	probably damaging	1.00
R1881:Camta2	UTSW	11	70,562,842 (GRCm39)	missense	probably benign	0.00
R1980:Camta2	UTSW	11	70,573,308 (GRCm39)	missense	probably benign	0.43
R2144:Camta2	UTSW	11	70,562,401 (GRCm39)	missense	probably benign	0.31
R2145:Camta2	UTSW	11	70,562,401 (GRCm39)	missense	probably benign	0.31
R2763:Camta2	UTSW	11	70,573,356 (GRCm39)	nonsense	probably null
R2881:Camta2	UTSW	11	70,570,490 (GRCm39)	splice site	probably null
R2917:Camta2	UTSW	11	70,571,787 (GRCm39)	missense	probably damaging	1.00
R4115:Camta2	UTSW	11	70,567,300 (GRCm39)	missense	possibly damaging	0.93
R4321:Camta2	UTSW	11	70,569,151 (GRCm39)	missense	probably damaging	1.00
R4470:Camta2	UTSW	11	70,571,766 (GRCm39)	missense	probably damaging	1.00
R4499:Camta2	UTSW	11	70,565,512 (GRCm39)	missense	probably damaging	1.00
R4509:Camta2	UTSW	11	70,571,844 (GRCm39)	missense	probably benign	0.28
R6154:Camta2	UTSW	11	70,569,211 (GRCm39)	missense	probably damaging	1.00
R6166:Camta2	UTSW	11	70,565,087 (GRCm39)	splice site	probably null
R6287:Camta2	UTSW	11	70,572,295 (GRCm39)	missense	probably damaging	0.98
R6382:Camta2	UTSW	11	70,562,867 (GRCm39)	missense	probably damaging	0.99
R6864:Camta2	UTSW	11	70,562,792 (GRCm39)	missense	probably benign	0.00
R6922:Camta2	UTSW	11	70,564,964 (GRCm39)	missense	probably benign	0.04
R7438:Camta2	UTSW	11	70,574,714 (GRCm39)	critical splice donor site	probably null
R7611:Camta2	UTSW	11	70,572,372 (GRCm39)	missense	possibly damaging	0.85
R7883:Camta2	UTSW	11	70,566,037 (GRCm39)	missense	probably damaging	1.00
R8094:Camta2	UTSW	11	70,576,903 (GRCm39)	missense	probably damaging	1.00
R8232:Camta2	UTSW	11	70,573,841 (GRCm39)	missense	unknown
R8271:Camta2	UTSW	11	70,561,886 (GRCm39)	missense	probably benign	0.05
R8973:Camta2	UTSW	11	70,561,184 (GRCm39)	missense	probably benign	0.05
R9072:Camta2	UTSW	11	70,567,234 (GRCm39)	missense	probably benign	0.21
T0722:Camta2	UTSW	11	70,574,831 (GRCm39)	missense	probably damaging	1.00
X0066:Camta2	UTSW	11	70,572,504 (GRCm39)	missense	probably benign	0.08
Z1177:Camta2	UTSW	11	70,566,047 (GRCm39)	nonsense	probably null

Posted On

2015-04-16