Mutagenetix > Incidental Mutation

Incidental Mutation 'R5582:Clic6'

438532

Institutional Source

Beutler Lab

Gene Symbol

Clic6

Ensembl Gene

ENSMUSG00000022949

Gene Name

chloride intracellular channel 6

Synonyms

CLIC1L, 5730466J16Rik

MMRRC Submission

043136-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R5582 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92295035-92338129 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92296342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 334 (Q334L)

Ref Sequence

ENSEMBL: ENSMUSP00000023670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023670] [ENSMUST00000162181]

AlphaFold

Q8BHB9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023670
AA Change: Q334L

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023670
Gene: ENSMUSG00000022949
AA Change: Q334L

Domain	Start	End	E-Value	Type
low complexity region	38	46	N/A	INTRINSIC
low complexity region	62	74	N/A	INTRINSIC
low complexity region	83	108	N/A	INTRINSIC
low complexity region	151	169	N/A	INTRINSIC
low complexity region	193	213	N/A	INTRINSIC
low complexity region	225	245	N/A	INTRINSIC
low complexity region	275	287	N/A	INTRINSIC
low complexity region	308	318	N/A	INTRINSIC
Pfam:GST_N_3	375	447	2e-9	PFAM
Pfam:GST_C_2	478	567	1.4e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160494

SMART Domains

Protein: ENSMUSP00000123968
Gene: ENSMUSG00000051297

Domain	Start	End	E-Value	Type
low complexity region	4	22	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162181

SMART Domains

Protein: ENSMUSP00000124498
Gene: ENSMUSG00000022949

Domain	Start	End	E-Value	Type
Pfam:GST_N_3	34	100	2.8e-10	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the chloride intracellular channel family of proteins. The gene is part of a large triplicated region found on chromosomes 1, 6, and 21. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,586,639 (GRCm39)		probably null	Het
Agxt2	A	G	15: 10,399,245 (GRCm39)	D444G	probably damaging	Het
Aldh1b1	G	T	4: 45,802,750 (GRCm39)	R96L	probably damaging	Het
Ank2	T	C	3: 126,739,954 (GRCm39)		probably benign	Het
Apob	A	G	12: 8,060,788 (GRCm39)	Y3090C	probably damaging	Het
Bbx	A	G	16: 50,043,719 (GRCm39)	S647P	probably damaging	Het
Brinp2	T	C	1: 158,076,979 (GRCm39)	Y372C	probably damaging	Het
Btaf1	T	C	19: 36,965,573 (GRCm39)		probably null	Het
Cdk5rap1	T	A	2: 154,187,894 (GRCm39)	E477D	probably benign	Het
Cfap65	G	A	1: 74,946,677 (GRCm39)		probably benign	Het
Chdh	A	G	14: 29,758,816 (GRCm39)	Y587C	probably damaging	Het
Chek2	T	C	5: 111,015,901 (GRCm39)	V472A	probably damaging	Het
Clasrp	A	C	7: 19,320,781 (GRCm39)	I326S	probably damaging	Het
Cyp2d11	A	T	15: 82,276,319 (GRCm39)		probably null	Het
Entpd7	T	C	19: 43,693,433 (GRCm39)	I171T	probably damaging	Het
Fosl1	T	C	19: 5,505,295 (GRCm39)		probably benign	Het
Gm6124	A	G	7: 38,869,622 (GRCm39)		noncoding transcript	Het
H3f3a	A	T	1: 180,637,650 (GRCm39)		probably benign	Het
Hs1bp3	AGAGGAGGAGGAGGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGGAGGAGGAGGAGG	12: 8,374,048 (GRCm39)		probably benign	Het
Idh2	CCAGGGC	CC	7: 79,748,087 (GRCm39)		probably null	Het
Igkv3-7	A	G	6: 70,584,990 (GRCm39)	Y110C	probably damaging	Het
Ints9	C	T	14: 65,266,345 (GRCm39)	T399M	possibly damaging	Het
Kctd19	G	A	8: 106,135,075 (GRCm39)	T62M	probably damaging	Het
Lsmem1	A	G	12: 40,230,643 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,990,802 (GRCm39)		probably null	Het
Or11h23	T	C	14: 50,948,425 (GRCm39)	Y213H	probably damaging	Het
Or1j12	T	C	2: 36,343,233 (GRCm39)	I212T	probably benign	Het
Otop3	T	A	11: 115,230,165 (GRCm39)	M14K	unknown	Het
Pibf1	C	T	14: 99,374,566 (GRCm39)	A335V	possibly damaging	Het
Pkd1l2	A	T	8: 117,767,522 (GRCm39)	L1256*	probably null	Het
Plbd2	T	C	5: 120,631,171 (GRCm39)	E202G	probably benign	Het
Ppp1r37	A	G	7: 19,266,219 (GRCm39)	S516P	probably damaging	Het
Ppt2	G	A	17: 34,836,373 (GRCm39)	T229M	probably damaging	Het
Prr14	A	T	7: 127,075,569 (GRCm39)	I526F	probably damaging	Het
Scel	T	C	14: 103,820,575 (GRCm39)		probably benign	Het
Scn9a	A	T	2: 66,395,373 (GRCm39)		probably benign	Het
Senp6	T	A	9: 79,997,158 (GRCm39)	D57E	possibly damaging	Het
Setd5	T	C	6: 113,091,886 (GRCm39)	Y217H	probably damaging	Het
Sgcg	T	C	14: 61,462,754 (GRCm39)	T198A	probably damaging	Het
Sipa1	C	T	19: 5,704,729 (GRCm39)	G622D	probably benign	Het
Slc27a2	C	T	2: 126,406,610 (GRCm39)	A98V	probably damaging	Het
Slitrk3	G	T	3: 72,957,737 (GRCm39)	P345Q	probably benign	Het
Slx4	T	C	16: 3,803,652 (GRCm39)	D1054G	possibly damaging	Het
Sned1	A	T	1: 93,210,083 (GRCm39)	T898S	probably damaging	Het
Tg	C	T	15: 66,565,284 (GRCm39)	P1209S	probably damaging	Het
Tmem63b	C	A	17: 45,978,689 (GRCm39)	V294L	probably benign	Het
Tnks	G	A	8: 35,408,015 (GRCm39)	R238C	probably benign	Het
Tsn	G	A	1: 118,232,944 (GRCm39)	T120I	probably damaging	Het
Txnrd1	T	A	10: 82,731,814 (GRCm39)	F479I	possibly damaging	Het
Ubr1	T	C	2: 120,745,888 (GRCm39)	M849V	probably benign	Het
Usp13	T	C	3: 32,965,738 (GRCm39)	S574P	probably damaging	Het
Vmn1r69	A	G	7: 10,314,435 (GRCm39)	Y20H	probably damaging	Het
Zfp1001	T	C	2: 150,204,972 (GRCm39)		probably benign	Het
Zfp780b	T	A	7: 27,664,252 (GRCm39)	N101I	probably damaging	Het

Other mutations in Clic6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Clic6	APN	16	92,296,196 (GRCm39)	missense	probably damaging	0.99
IGL02104:Clic6	APN	16	92,295,367 (GRCm39)	missense	possibly damaging	0.72
IGL02387:Clic6	APN	16	92,326,807 (GRCm39)	missense	probably damaging	1.00
IGL02437:Clic6	APN	16	92,327,817 (GRCm39)	missense	probably damaging	1.00
IGL02617:Clic6	APN	16	92,296,206 (GRCm39)	missense	probably benign	0.00
unsweetened	UTSW	16	92,327,697 (GRCm39)	missense	possibly damaging	0.79
R1544:Clic6	UTSW	16	92,288,961 (GRCm39)	intron	probably benign
R1677:Clic6	UTSW	16	92,324,972 (GRCm39)	missense	probably damaging	1.00
R2149:Clic6	UTSW	16	92,296,095 (GRCm39)	missense	probably benign	0.00
R3965:Clic6	UTSW	16	92,295,732 (GRCm39)	missense	probably benign	0.00
R4171:Clic6	UTSW	16	92,293,949 (GRCm39)	intron	probably benign
R4545:Clic6	UTSW	16	92,289,045 (GRCm39)	intron	probably benign
R4637:Clic6	UTSW	16	92,293,949 (GRCm39)	intron	probably benign
R4649:Clic6	UTSW	16	92,327,827 (GRCm39)	critical splice donor site	probably null
R5159:Clic6	UTSW	16	92,324,954 (GRCm39)	missense	probably benign	0.13
R5249:Clic6	UTSW	16	92,336,339 (GRCm39)	missense	probably damaging	1.00
R5486:Clic6	UTSW	16	92,326,740 (GRCm39)	splice site	probably null
R6140:Clic6	UTSW	16	92,336,380 (GRCm39)	missense	probably damaging	1.00
R6234:Clic6	UTSW	16	92,296,110 (GRCm39)	missense	probably benign
R6379:Clic6	UTSW	16	92,336,423 (GRCm39)	missense	probably damaging	1.00
R6593:Clic6	UTSW	16	92,325,005 (GRCm39)	missense	possibly damaging	0.82
R7890:Clic6	UTSW	16	92,296,275 (GRCm39)	missense	probably benign	0.41
R8794:Clic6	UTSW	16	92,324,987 (GRCm39)	missense	possibly damaging	0.91
R8937:Clic6	UTSW	16	92,296,245 (GRCm39)	missense	probably damaging	0.98
R9450:Clic6	UTSW	16	92,327,644 (GRCm39)	missense	possibly damaging	0.95
R9502:Clic6	UTSW	16	92,295,588 (GRCm39)	missense	probably damaging	1.00
RF012:Clic6	UTSW	16	92,327,697 (GRCm39)	missense	possibly damaging	0.79
X0058:Clic6	UTSW	16	92,295,595 (GRCm39)	missense	probably benign
Z1176:Clic6	UTSW	16	92,295,783 (GRCm39)	missense	probably benign	0.26
Z1177:Clic6	UTSW	16	92,296,027 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- GGATGCGAGAGTAGATGCTC -3'
(R):5'- TCCTTCTGACTGATTGAAGCAC -3'

Sequencing Primer
(F):5'- TGCGAGAGTAGATGCTCATGAG -3'
(R):5'- CTGACTGATTGAAGCACTTGAGTACG -3'

Posted On

2016-10-26