Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00906:Clca4a'

27074

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

Essential gene?

Possibly non essential (E-score: 0.332) question?

Stock #

IGL00906

Quality Score

Status

Chromosome

Chromosomal Location

144658247-144680806 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144660700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 708 (V708A)

Ref Sequence

ENSEMBL: ENSMUSP00000029923 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029923
AA Change: V708A

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

SMART Domains

Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: V708A

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	A	G	5: 125,580,338 (GRCm39)	E221G	probably benign	Het
Alb	A	G	5: 90,619,932 (GRCm39)	N453S	probably benign	Het
Bckdha	C	T	7: 25,332,767 (GRCm39)	V183M	probably benign	Het
Brpf3	A	G	17: 29,055,674 (GRCm39)		probably benign	Het
Ccdc163	T	C	4: 116,567,487 (GRCm39)		probably null	Het
Ccdc178	A	T	18: 22,268,225 (GRCm39)	C87*	probably null	Het
Cfhr4	A	T	1: 139,659,312 (GRCm39)	V739E	probably damaging	Het
Cyfip2	A	G	11: 46,091,512 (GRCm39)	V1136A	possibly damaging	Het
Dnah11	A	C	12: 117,874,937 (GRCm39)	L3976R	probably damaging	Het
Erich1	A	G	8: 14,083,770 (GRCm39)		probably benign	Het
Fam228a	A	T	12: 4,782,773 (GRCm39)	Y107N	possibly damaging	Het
Iars2	A	T	1: 185,028,600 (GRCm39)		probably benign	Het
Ifi204	A	G	1: 173,587,197 (GRCm39)		probably benign	Het
Ifih1	A	T	2: 62,476,168 (GRCm39)	I36N	probably benign	Het
Jak1	C	T	4: 101,011,826 (GRCm39)	G1092D	probably damaging	Het
Kir3dl2	G	A	X: 135,357,097 (GRCm39)	P122S	probably damaging	Het
Nacc2	T	C	2: 25,951,678 (GRCm39)	T386A	probably damaging	Het
Nrf1	C	T	6: 30,098,477 (GRCm39)	T135M	probably damaging	Het
Or4k15	A	G	14: 50,364,214 (GRCm39)	Y60C	probably damaging	Het
Or51i2	G	A	7: 103,689,051 (GRCm39)	G16D	probably damaging	Het
Pcca	A	C	14: 122,927,545 (GRCm39)	D436A	probably benign	Het
Pcdhb11	A	T	18: 37,555,174 (GRCm39)	Q168L	possibly damaging	Het
Pdgfra	A	G	5: 75,340,834 (GRCm39)	I598V	probably benign	Het
Pla2g6	C	T	15: 79,171,947 (GRCm39)	V637I	probably damaging	Het
Plac1	A	C	X: 52,159,593 (GRCm39)	V39G	probably damaging	Het
Pparg	A	G	6: 115,416,822 (GRCm39)	E5G	probably damaging	Het
Ppp1r9a	A	G	6: 5,157,023 (GRCm39)	D967G	possibly damaging	Het
Rel	T	C	11: 23,694,266 (GRCm39)	T322A	probably benign	Het
Sgk3	A	G	1: 9,947,470 (GRCm39)	T137A	probably benign	Het
Sgpp2	A	G	1: 78,367,184 (GRCm39)	R106G	probably benign	Het
Slc27a5	T	A	7: 12,724,984 (GRCm39)	M459L	probably benign	Het
Snx21	T	C	2: 164,628,140 (GRCm39)	L52P	probably damaging	Het
Srarp	G	A	4: 141,160,584 (GRCm39)	T83M	probably benign	Het
Sstr2	A	G	11: 113,515,821 (GRCm39)	R247G	probably benign	Het
Tnpo3	G	A	6: 29,589,047 (GRCm39)	S101L	probably damaging	Het
Zan	A	G	5: 137,387,622 (GRCm39)	I4863T	unknown	Het

Other mutations in Clca4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01139:Clca4a	APN	3	144,672,030 (GRCm39)	missense	probably damaging	0.99
IGL01371:Clca4a	APN	3	144,666,433 (GRCm39)	missense	probably damaging	1.00
IGL01609:Clca4a	APN	3	144,659,541 (GRCm39)	missense	probably damaging	1.00
IGL01998:Clca4a	APN	3	144,663,887 (GRCm39)	missense	probably damaging	0.98
IGL02172:Clca4a	APN	3	144,676,155 (GRCm39)	nonsense	probably null
IGL02217:Clca4a	APN	3	144,667,757 (GRCm39)	missense	possibly damaging	0.61
IGL02514:Clca4a	APN	3	144,660,832 (GRCm39)	missense	probably damaging	1.00
IGL02975:Clca4a	APN	3	144,669,530 (GRCm39)	missense	possibly damaging	0.90
IGL03025:Clca4a	APN	3	144,663,079 (GRCm39)	missense	probably benign	0.07
IGL03049:Clca4a	APN	3	144,676,516 (GRCm39)	splice site	probably benign
IGL03058:Clca4a	APN	3	144,667,595 (GRCm39)	splice site	probably benign
IGL03259:Clca4a	APN	3	144,663,841 (GRCm39)	missense	probably damaging	1.00
IGL03263:Clca4a	APN	3	144,672,192 (GRCm39)	missense	probably damaging	1.00
IGL03334:Clca4a	APN	3	144,659,627 (GRCm39)	missense	probably benign	0.28
PIT4142001:Clca4a	UTSW	3	144,674,072 (GRCm39)	missense	probably damaging	1.00
R0201:Clca4a	UTSW	3	144,666,478 (GRCm39)	missense	probably benign	0.00
R0316:Clca4a	UTSW	3	144,659,525 (GRCm39)	missense	probably damaging	1.00
R0524:Clca4a	UTSW	3	144,675,154 (GRCm39)	missense	probably damaging	1.00
R0680:Clca4a	UTSW	3	144,675,128 (GRCm39)	missense	probably damaging	1.00
R0688:Clca4a	UTSW	3	144,667,735 (GRCm39)	missense	probably damaging	1.00
R1137:Clca4a	UTSW	3	144,676,446 (GRCm39)	missense	probably damaging	1.00
R1568:Clca4a	UTSW	3	144,658,690 (GRCm39)	missense	probably benign	0.00
R1719:Clca4a	UTSW	3	144,669,516 (GRCm39)	missense	probably damaging	1.00
R2055:Clca4a	UTSW	3	144,676,489 (GRCm39)	missense	probably damaging	1.00
R3078:Clca4a	UTSW	3	144,674,014 (GRCm39)	missense	probably damaging	0.99
R3080:Clca4a	UTSW	3	144,669,551 (GRCm39)	missense	probably damaging	1.00
R3789:Clca4a	UTSW	3	144,680,717 (GRCm39)	missense	probably damaging	1.00
R3881:Clca4a	UTSW	3	144,663,079 (GRCm39)	missense	probably benign	0.07
R4133:Clca4a	UTSW	3	144,675,113 (GRCm39)	missense	probably benign	0.07
R4402:Clca4a	UTSW	3	144,658,609 (GRCm39)	missense	probably benign	0.08
R4455:Clca4a	UTSW	3	144,663,020 (GRCm39)	missense	probably damaging	1.00
R4577:Clca4a	UTSW	3	144,660,730 (GRCm39)	missense	probably damaging	0.97
R4683:Clca4a	UTSW	3	144,660,701 (GRCm39)	missense	probably damaging	1.00
R5135:Clca4a	UTSW	3	144,660,707 (GRCm39)	missense	probably damaging	1.00
R5267:Clca4a	UTSW	3	144,659,573 (GRCm39)	missense	probably damaging	1.00
R5345:Clca4a	UTSW	3	144,676,222 (GRCm39)	missense	probably damaging	1.00
R6311:Clca4a	UTSW	3	144,672,174 (GRCm39)	missense	probably damaging	0.99
R6492:Clca4a	UTSW	3	144,663,059 (GRCm39)	missense	probably benign	0.00
R6493:Clca4a	UTSW	3	144,663,059 (GRCm39)	missense	probably benign	0.00
R6494:Clca4a	UTSW	3	144,663,059 (GRCm39)	missense	probably benign	0.00
R6861:Clca4a	UTSW	3	144,676,416 (GRCm39)	missense	probably benign
R7102:Clca4a	UTSW	3	144,667,670 (GRCm39)	missense	probably benign	0.01
R7133:Clca4a	UTSW	3	144,667,651 (GRCm39)	nonsense	probably null
R7171:Clca4a	UTSW	3	144,663,934 (GRCm39)	missense	probably benign
R7516:Clca4a	UTSW	3	144,672,009 (GRCm39)	missense	probably damaging	1.00
R7642:Clca4a	UTSW	3	144,659,512 (GRCm39)	missense	probably benign	0.11
R7731:Clca4a	UTSW	3	144,658,546 (GRCm39)	missense	probably benign	0.02
R7787:Clca4a	UTSW	3	144,659,594 (GRCm39)	missense	probably benign
R7820:Clca4a	UTSW	3	144,666,432 (GRCm39)	missense	probably damaging	1.00
R7895:Clca4a	UTSW	3	144,674,166 (GRCm39)	missense	probably benign	0.19
R7991:Clca4a	UTSW	3	144,658,500 (GRCm39)	missense	possibly damaging	0.75
R8240:Clca4a	UTSW	3	144,676,488 (GRCm39)	missense	probably damaging	1.00
R9308:Clca4a	UTSW	3	144,676,183 (GRCm39)	missense	probably damaging	1.00
R9373:Clca4a	UTSW	3	144,672,133 (GRCm39)	missense	possibly damaging	0.66
R9488:Clca4a	UTSW	3	144,659,532 (GRCm39)	missense	probably damaging	1.00
R9772:Clca4a	UTSW	3	144,676,422 (GRCm39)	missense	probably damaging	1.00
R9781:Clca4a	UTSW	3	144,667,713 (GRCm39)	missense	probably benign	0.01

Posted On

2013-04-17