Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02975:Clca4a'

406340

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 #

IGL02975

Quality Score

Status

Chromosome

Chromosomal Location

144952480-144975045 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 144963769 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 340 (I340M)

Ref Sequence

ENSEMBL: ENSMUSP00000029923 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029923
AA Change: I340M

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: I340M

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	T	C	5: 99,233,925	D326G	possibly damaging	Het
Ago4	C	T	4: 126,512,519		probably null	Het
Ank	A	G	15: 27,467,001		probably benign	Het
Ankmy2	C	A	12: 36,193,774	S329R	possibly damaging	Het
Aox1	A	G	1: 58,068,391	E608G	probably damaging	Het
Btbd11	A	G	10: 85,631,343	I721V	probably benign	Het
Car1	G	A	3: 14,777,822	L48F	probably benign	Het
Cct8	A	G	16: 87,486,230		probably benign	Het
Clasp1	A	T	1: 118,462,547	T154S	probably damaging	Het
Cnksr3	C	T	10: 7,138,354		probably null	Het
Cntrob	T	C	11: 69,319,373	T265A	possibly damaging	Het
Ddx5	T	C	11: 106,781,885	I605V	probably benign	Het
Eif3i	A	G	4: 129,595,312	Y70H	probably damaging	Het
Epb41l5	T	C	1: 119,579,081		probably benign	Het
Fah	A	T	7: 84,601,079	S90T	probably benign	Het
Fat2	T	A	11: 55,270,194	M3237L	probably benign	Het
Fbxw8	A	G	5: 118,077,695	Y417H	probably benign	Het
Fmnl2	C	A	2: 53,101,482	F336L	probably benign	Het
Gli3	A	G	13: 15,724,568	R847G	probably damaging	Het
Gm17509	T	C	13: 117,220,772		probably benign	Het
Gm4846	T	A	1: 166,483,880	Y470F	possibly damaging	Het
Gm7461	T	C	8: 4,677,847		noncoding transcript	Het
Gpatch4	A	T	3: 88,054,436	N134I	possibly damaging	Het
Grina	A	G	15: 76,248,985	Y251C	probably damaging	Het
Gsn	A	G	2: 35,304,654	D654G	probably benign	Het
Hyal5	A	G	6: 24,891,452	T422A	probably benign	Het
Iars	T	A	13: 49,704,849	I377N	probably damaging	Het
Ints3	A	T	3: 90,401,837		probably benign	Het
Kdm4b	G	A	17: 56,375,996		probably null	Het
Kyat1	A	G	2: 30,186,675	S276P	probably damaging	Het
Lrrc1	A	G	9: 77,452,647	C288R	probably damaging	Het
Mst1r	T	A	9: 107,913,180	M664K	probably benign	Het
Neb	A	T	2: 52,298,867	I817N	probably damaging	Het
Nudt6	C	A	3: 37,419,518	G18V	probably damaging	Het
Olfr1302	T	A	2: 111,780,921	Y200*	probably null	Het
Olfr517	G	A	7: 108,868,855	Q100*	probably null	Het
Olfr57	T	C	10: 79,035,033	V79A	possibly damaging	Het
Pde1c	A	G	6: 56,158,936	I341T	probably damaging	Het
Pgm5	T	C	19: 24,834,848	I107V	probably benign	Het
Pot1b	G	A	17: 55,662,454		probably benign	Het
Prkca	C	T	11: 108,340,677	W58*	probably null	Het
Slc12a9	T	C	5: 137,322,443	K555R	probably damaging	Het
Smoc2	A	T	17: 14,336,610	Q107L	probably damaging	Het
Sytl1	T	A	4: 133,261,032	R4S	probably benign	Het
Tbc1d4	A	G	14: 101,458,113	L963P	probably damaging	Het
Tfdp2	G	A	9: 96,317,936		probably benign	Het
Tmem63a	A	T	1: 180,961,075	M326L	probably benign	Het
Vmn2r66	A	G	7: 85,006,974	L278P	probably damaging	Het
Wtap	A	G	17: 12,983,511	V11A	possibly damaging	Het
Zcchc9	A	T	13: 91,806,053	S28T	possibly damaging	Het
Zfp12	C	T	5: 143,244,059		probably benign	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
IGL02514:Clca4a	APN	3	144955071	missense	probably damaging	1.00
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

2016-08-02