Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02514:Clca4a'

296679

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clca4a

Ensembl Gene

ENSMUSG00000068547

Gene Name

chloride channel accessory 4A

Synonyms

Clca6, 9130020L07Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

IGL02514

Quality Score

Status

Chromosome

Chromosomal Location

144952480-144975045 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 144955071 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 664 (S664F)

Ref Sequence

ENSEMBL: ENSMUSP00000029923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029923]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029923
AA Change: S664F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: S664F

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	286	300	N/A	INTRINSIC
VWA	306	480	5.94e-16	SMART
Blast:VWA	513	552	7e-18	BLAST
Blast:FN3	757	838	8e-33	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136170

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	T	1: 138,852,171	C114*	probably null	Het
4933421I07Rik	A	G	7: 42,447,557	M110T	probably damaging	Het
Amer1	A	G	X: 95,426,511	V667A	possibly damaging	Het
Casr	C	T	16: 36,500,325	G487E	probably damaging	Het
Catsperd	G	A	17: 56,661,271	G552D	probably damaging	Het
Ceacam3	A	G	7: 17,162,981	D624G	possibly damaging	Het
Celsr2	A	G	3: 108,397,510	V2208A	probably benign	Het
Ddx23	A	T	15: 98,658,318	S40T	unknown	Het
Dhodh	G	A	8: 109,606,264	R58*	probably null	Het
Dhx36	A	G	3: 62,500,898	L173S	possibly damaging	Het
Dnaaf5	C	T	5: 139,174,117		probably benign	Het
Dnah3	T	C	7: 119,966,247	D2546G	probably damaging	Het
Eef2	T	G	10: 81,179,593	I316S	probably benign	Het
Efcab6	T	C	15: 84,032,942	D139G	possibly damaging	Het
Efcab6	A	T	15: 83,871,311		probably benign	Het
Eif4g3	T	A	4: 138,126,194	I357N	possibly damaging	Het
Elovl2	G	A	13: 41,194,771	T44M	probably benign	Het
Fam92a	T	G	4: 12,164,080		probably benign	Het
Fbln1	T	A	15: 85,244,262	C553*	probably null	Het
Fip1l1	T	C	5: 74,571,152	V310A	probably damaging	Het
Gast	A	G	11: 100,336,892	D100G	probably benign	Het
Gk	G	A	X: 85,713,364		probably benign	Het
Gm1330	G	A	2: 148,999,385		probably benign	Het
Hspg2	C	A	4: 137,569,576	T4355K	probably benign	Het
Ipo7	T	C	7: 110,048,828	V639A	possibly damaging	Het
Lrrc7	T	C	3: 158,160,292	M1271V	probably damaging	Het
Msantd1	T	A	5: 34,921,543	S141T	probably damaging	Het
Myo9b	T	C	8: 71,291,006	I237T	probably damaging	Het
Olfr1129	G	A	2: 87,575,193	M36I	probably benign	Het
Olfr1286	A	C	2: 111,420,772	Y60D	probably damaging	Het
Olfr322	T	C	11: 58,665,643	F28S	probably damaging	Het
Olfr532	A	T	7: 140,419,594	Y60N	probably damaging	Het
Pan2	A	T	10: 128,310,741	M416L	possibly damaging	Het
Pank4	T	C	4: 154,970,465	F209L	probably damaging	Het
Pcdhb13	A	T	18: 37,442,991	I141L	possibly damaging	Het
Pik3r2	A	G	8: 70,770,592	Y422H	probably benign	Het
Pramef17	T	C	4: 143,993,202	K198E	probably benign	Het
Prdm4	A	T	10: 85,907,917	I158N	probably damaging	Het
Prl	T	G	13: 27,059,394	L14R	probably damaging	Het
Rabl6	C	A	2: 25,608,176	A23S	probably damaging	Het
Rbm15b	T	A	9: 106,884,977	H664L	probably damaging	Het
Rhobtb1	T	A	10: 69,289,641	H618Q	probably benign	Het
Slc15a1	T	C	14: 121,487,040	K140R	probably damaging	Het
Slc6a17	A	G	3: 107,495,677	S145P	possibly damaging	Het
Snx31	T	C	15: 36,525,582	T324A	probably damaging	Het
Spatc1l	T	C	10: 76,569,656		probably benign	Het
Taar7b	A	G	10: 24,000,984	N349S	probably benign	Het
Tbx19	T	C	1: 165,153,704	I74V	probably benign	Het
Tmtc2	G	A	10: 105,190,099	T836I	possibly damaging	Het
Vmn2r72	C	A	7: 85,738,699	M552I	possibly damaging	Het
Vsig10l	A	G	7: 43,463,914	T199A	probably benign	Het
Washc4	A	T	10: 83,570,083	E481V	probably damaging	Het
Zc3h15	T	A	2: 83,653,381	N33K	probably damaging	Het

Other mutations in Clca4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Clca4a	APN	3	144954939	missense	probably damaging	0.99
IGL01139:Clca4a	APN	3	144966269	missense	probably damaging	0.99
IGL01371:Clca4a	APN	3	144960672	missense	probably damaging	1.00
IGL01609:Clca4a	APN	3	144953780	missense	probably damaging	1.00
IGL01998:Clca4a	APN	3	144958126	missense	probably damaging	0.98
IGL02172:Clca4a	APN	3	144970394	nonsense	probably null
IGL02217:Clca4a	APN	3	144961996	missense	possibly damaging	0.61
IGL02975:Clca4a	APN	3	144963769	missense	possibly damaging	0.90
IGL03025:Clca4a	APN	3	144957318	missense	probably benign	0.07
IGL03049:Clca4a	APN	3	144970755	splice site	probably benign
IGL03058:Clca4a	APN	3	144961834	splice site	probably benign
IGL03259:Clca4a	APN	3	144958080	missense	probably damaging	1.00
IGL03263:Clca4a	APN	3	144966431	missense	probably damaging	1.00
IGL03334:Clca4a	APN	3	144953866	missense	probably benign	0.28
PIT4142001:Clca4a	UTSW	3	144968311	missense	probably damaging	1.00
R0201:Clca4a	UTSW	3	144960717	missense	probably benign	0.00
R0316:Clca4a	UTSW	3	144953764	missense	probably damaging	1.00
R0524:Clca4a	UTSW	3	144969393	missense	probably damaging	1.00
R0680:Clca4a	UTSW	3	144969367	missense	probably damaging	1.00
R0688:Clca4a	UTSW	3	144961974	missense	probably damaging	1.00
R1137:Clca4a	UTSW	3	144970685	missense	probably damaging	1.00
R1568:Clca4a	UTSW	3	144952929	missense	probably benign	0.00
R1719:Clca4a	UTSW	3	144963755	missense	probably damaging	1.00
R2055:Clca4a	UTSW	3	144970728	missense	probably damaging	1.00
R3078:Clca4a	UTSW	3	144968253	missense	probably damaging	0.99
R3080:Clca4a	UTSW	3	144963790	missense	probably damaging	1.00
R3789:Clca4a	UTSW	3	144974956	missense	probably damaging	1.00
R3881:Clca4a	UTSW	3	144957318	missense	probably benign	0.07
R4133:Clca4a	UTSW	3	144969352	missense	probably benign	0.07
R4402:Clca4a	UTSW	3	144952848	missense	probably benign	0.08
R4455:Clca4a	UTSW	3	144957259	missense	probably damaging	1.00
R4577:Clca4a	UTSW	3	144954969	missense	probably damaging	0.97
R4683:Clca4a	UTSW	3	144954940	missense	probably damaging	1.00
R5135:Clca4a	UTSW	3	144954946	missense	probably damaging	1.00
R5267:Clca4a	UTSW	3	144953812	missense	probably damaging	1.00
R5345:Clca4a	UTSW	3	144970461	missense	probably damaging	1.00
R6311:Clca4a	UTSW	3	144966413	missense	probably damaging	0.99
R6492:Clca4a	UTSW	3	144957298	missense	probably benign	0.00
R6493:Clca4a	UTSW	3	144957298	missense	probably benign	0.00
R6494:Clca4a	UTSW	3	144957298	missense	probably benign	0.00
R6861:Clca4a	UTSW	3	144970655	missense	probably benign
R7102:Clca4a	UTSW	3	144961909	missense	probably benign	0.01
R7133:Clca4a	UTSW	3	144961890	nonsense	probably null
R7171:Clca4a	UTSW	3	144958173	missense	probably benign
R7516:Clca4a	UTSW	3	144966248	missense	probably damaging	1.00
R7642:Clca4a	UTSW	3	144953751	missense	probably benign	0.11
R7731:Clca4a	UTSW	3	144952785	missense	probably benign	0.02
R7787:Clca4a	UTSW	3	144953833	missense	probably benign
R7820:Clca4a	UTSW	3	144960671	missense	probably damaging	1.00
R7895:Clca4a	UTSW	3	144968405	missense	probably benign	0.19
R7978:Clca4a	UTSW	3	144968405	missense	probably benign	0.19

Posted On

2015-04-16