Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01139:Clca4a'

50791

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: 0.310) question?

Stock #

IGL01139

Quality Score

Status

Chromosome

Chromosomal Location

144952480-144975045 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144966269 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 304 (I304N)

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: I304N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: I304N

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	A	T	1: 125,405,885	I215N	probably damaging	Het
Ambn	C	T	5: 88,464,517		probably benign	Het
Arhgef1	T	A	7: 24,925,951		probably benign	Het
Arid1a	A	C	4: 133,693,997	S832R	unknown	Het
Dmxl2	G	A	9: 54,458,964	P274S	probably damaging	Het
Eif4enif1	T	A	11: 3,221,143	D211E	probably damaging	Het
Eri2	A	G	7: 119,786,737		probably null	Het
Fhod3	C	T	18: 25,066,344	P691S	probably benign	Het
Flnb	A	G	14: 7,945,989	S2465G	probably damaging	Het
Ftsj1	G	A	X: 8,246,592	R171C	probably damaging	Het
Glb1l3	G	A	9: 26,818,227	T648I	probably benign	Het
Gm4222	T	A	2: 90,148,545		probably benign	Het
Gm438	A	T	4: 144,777,689	Y297*	probably null	Het
Gm5475	G	A	15: 100,424,215		probably benign	Het
Jaml	C	A	9: 45,101,019	T268N	possibly damaging	Het
Kank3	G	A	17: 33,817,401	G81E	probably damaging	Het
Lrba	A	G	3: 86,642,662	T217A	possibly damaging	Het
Ltn1	A	G	16: 87,416,009	S555P	probably benign	Het
Map3k15	T	A	X: 160,072,879	M350K	probably damaging	Het
Mipol1	C	A	12: 57,306,035	Y53*	probably null	Het
Mn1	A	G	5: 111,421,449	D1095G	probably damaging	Het
Myh14	T	C	7: 44,606,292		probably benign	Het
Nrn1	A	G	13: 36,730,216	C31R	probably damaging	Het
Nup210	A	T	6: 91,030,097	L579H	possibly damaging	Het
Nxf2	T	C	X: 134,950,396	I578V	probably benign	Het
Obscn	G	A	11: 59,078,352	A172V	probably damaging	Het
Olfr1006	T	G	2: 85,674,497	Y218S	probably damaging	Het
Olfr55	T	A	17: 33,176,782	Y123N	probably damaging	Het
Phtf1	A	G	3: 104,005,602	D748G	probably damaging	Het
Psd3	A	T	8: 67,908,535	Y863N	probably damaging	Het
Psmc6	C	T	14: 45,343,710	T321I	probably benign	Het
Rassf6	T	C	5: 90,608,966	*31W	probably null	Het
Rictor	A	C	15: 6,778,268	K791Q	probably damaging	Het
Slc12a9	C	T	5: 137,322,842	M470I	probably damaging	Het
Tex28	A	T	X: 74,151,224	M367K	possibly damaging	Het
Thnsl2	A	T	6: 71,138,734	V163D	probably damaging	Het
Tmco3	G	A	8: 13,319,887	R633Q	possibly damaging	Het
Trf	A	T	9: 103,223,604	V224D	probably damaging	Het
Ttc8	C	T	12: 98,964,545	Q273*	probably null	Het
Usp9x	A	G	X: 13,104,576		probably benign	Het
Vmn2r117	A	G	17: 23,477,804	W210R	probably damaging	Het
Vmn2r5	A	G	3: 64,491,405	S718P	probably benign	Het
Vps13a	T	C	19: 16,640,625	D2932G	probably damaging	Het
Whamm	T	C	7: 81,595,914	L706P	probably damaging	Het
Yeats2	G	A	16: 20,214,393	V45I	probably damaging	Het
Yipf3	G	A	17: 46,250,457		probably null	Het
Zeb1	T	C	18: 5,705,061	V26A	possibly 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
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
IGL02514:Clca4a	APN	3	144955071	missense	probably damaging	1.00
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
R7991:Clca4a	UTSW	3	144952739	missense	possibly damaging	0.75
R8240:Clca4a	UTSW	3	144970727	missense	probably damaging	1.00
R9308:Clca4a	UTSW	3	144970422	missense	probably damaging	1.00
R9373:Clca4a	UTSW	3	144966372	missense	possibly damaging	0.66
R9488:Clca4a	UTSW	3	144953771	missense	probably damaging	1.00
R9772:Clca4a	UTSW	3	144970661	missense	probably damaging	1.00
R9781:Clca4a	UTSW	3	144961952	missense	probably benign	0.01

Posted On

2013-06-21