Mutagenetix > Incidental Mutation

Incidental Mutation 'R1677:Clic6'

188221

Institutional Source

Beutler Lab

Gene Symbol

Clic6

Ensembl Gene

ENSMUSG00000022949

Gene Name

chloride intracellular channel 6

Synonyms

CLIC1L, 5730466J16Rik

MMRRC Submission

039713-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R1677 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92295035-92338129 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92324972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 36 (G36R)

Ref Sequence

ENSEMBL: ENSMUSP00000124498 (fasta)

Gene Model

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

AlphaFold

Q8BHB9

Predicted Effect

probably damaging
Transcript: ENSMUST00000023670
AA Change: G377R

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

SMART Domains

Protein: ENSMUSP00000023670
Gene: ENSMUSG00000022949
AA Change: G377R

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

probably damaging
Transcript: ENSMUST00000162181
AA Change: G36R

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

SMART Domains

Protein: ENSMUSP00000124498
Gene: ENSMUSG00000022949
AA Change: G36R

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

Meta Mutation Damage Score

0.6872

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (95/95)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,467,357 (GRCm39)	M92K	probably benign	Het
4931406C07Rik	T	C	9: 15,212,660 (GRCm39)		probably null	Het
A430005L14Rik	G	A	4: 154,045,357 (GRCm39)	V129M	probably damaging	Het
Actg2	T	C	6: 83,499,801 (GRCm39)	T150A	possibly damaging	Het
Actn1	A	T	12: 80,306,806 (GRCm39)	D20E	probably benign	Het
Alcam	C	T	16: 52,091,136 (GRCm39)	E461K	probably damaging	Het
Anapc1	G	A	2: 128,518,128 (GRCm39)	P242L	probably benign	Het
Ankrd49	A	T	9: 14,692,674 (GRCm39)	D163E	probably benign	Het
Atp8b5	G	A	4: 43,372,903 (GRCm39)	R1149Q	possibly damaging	Het
Cacnb3	G	T	15: 98,540,455 (GRCm39)	V328F	probably damaging	Het
Camk4	T	C	18: 33,309,275 (GRCm39)	I226T	probably damaging	Het
Ccdc148	T	C	2: 58,892,176 (GRCm39)	D172G	probably damaging	Het
Cdh12	A	G	15: 21,520,491 (GRCm39)	I319V	probably damaging	Het
Cenpc1	T	C	5: 86,209,857 (GRCm39)		probably benign	Het
Cfap69	A	C	5: 5,632,457 (GRCm39)	N15K	probably damaging	Het
Ckap2l	A	C	2: 129,127,087 (GRCm39)	S364A	possibly damaging	Het
Col6a3	T	C	1: 90,749,583 (GRCm39)	Y417C	probably benign	Het
Cstf3	T	A	2: 104,494,623 (GRCm39)		probably benign	Het
Cyp4f39	G	A	17: 32,711,304 (GRCm39)	A484T	probably benign	Het
Dnah3	T	C	7: 119,527,963 (GRCm39)	N3829D	probably damaging	Het
Dntt	C	A	19: 41,017,923 (GRCm39)	P16T	probably benign	Het
Dym	T	A	18: 75,258,583 (GRCm39)	I447N	probably damaging	Het
Elmo1	T	C	13: 20,773,841 (GRCm39)	V617A	probably benign	Het
Elovl7	G	A	13: 108,419,160 (GRCm39)	G264D	probably damaging	Het
Epha7	T	A	4: 28,947,571 (GRCm39)	Y610*	probably null	Het
Fn1	T	C	1: 71,636,814 (GRCm39)	I178V	probably benign	Het
Fndc9	T	C	11: 46,129,152 (GRCm39)	Y224H	probably benign	Het
Gad1	T	C	2: 70,404,521 (GRCm39)	V137A	probably damaging	Het
Gapvd1	A	G	2: 34,590,773 (GRCm39)		probably null	Het
Gbp11	C	T	5: 105,475,277 (GRCm39)	C357Y	probably damaging	Het
Gcc1	G	A	6: 28,419,163 (GRCm39)	A390V	probably benign	Het
Gm6811	A	G	17: 21,314,185 (GRCm39)		noncoding transcript	Het
Htt	A	T	5: 34,985,918 (GRCm39)	D1063V	probably damaging	Het
Igfn1	C	T	1: 135,898,839 (GRCm39)	A576T	probably damaging	Het
Il12rb2	T	C	6: 67,280,485 (GRCm39)	Y240C	probably damaging	Het
Itga3	T	C	11: 94,946,585 (GRCm39)	D747G	probably damaging	Het
Kcnip2	A	C	19: 45,782,979 (GRCm39)	D134E	probably damaging	Het
Kif2b	C	A	11: 91,466,798 (GRCm39)	R495I	probably damaging	Het
Lef1	T	C	3: 130,993,938 (GRCm39)		probably benign	Het
Lias	C	T	5: 65,548,981 (GRCm39)	R4C	probably damaging	Het
Lpcat2	T	C	8: 93,591,560 (GRCm39)	V68A	probably benign	Het
Lrrc37	A	T	11: 103,505,768 (GRCm39)	S2067T	probably benign	Het
Lrrc8e	A	T	8: 4,284,190 (GRCm39)	K138N	probably damaging	Het
Map4k5	G	A	12: 69,852,082 (GRCm39)	H767Y	probably benign	Het
Mga	C	A	2: 119,791,333 (GRCm39)	T2406K	possibly damaging	Het
Mtx1	A	T	3: 89,116,648 (GRCm39)	S418T	probably benign	Het
Myh7	C	T	14: 55,224,973 (GRCm39)	M531I	probably benign	Het
Myorg	C	T	4: 41,497,947 (GRCm39)	R561H	probably benign	Het
Ncaph2	T	A	15: 89,255,427 (GRCm39)	M555K	probably damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Ncoa6	T	C	2: 155,244,584 (GRCm39)		probably benign	Het
Nrp2	A	G	1: 62,822,479 (GRCm39)	S691G	probably benign	Het
Odad2	T	C	18: 7,222,554 (GRCm39)	T572A	probably benign	Het
Odf2l	A	T	3: 144,845,543 (GRCm39)		probably null	Het
Or5aq6	T	A	2: 86,923,081 (GRCm39)	H220L	probably benign	Het
Pcdh20	A	G	14: 88,705,410 (GRCm39)	V630A	probably damaging	Het
Pebp4	T	C	14: 70,285,923 (GRCm39)		probably null	Het
Ppfia3	T	A	7: 45,006,090 (GRCm39)	M301L	probably benign	Het
Ppp1r21	C	A	17: 88,858,097 (GRCm39)	Q203K	probably benign	Het
Prr23a1	T	C	9: 98,725,406 (GRCm39)	V256A	probably benign	Het
Rbfox1	A	G	16: 7,110,091 (GRCm39)	R150G	possibly damaging	Het
Rnps1-ps	A	T	6: 7,982,943 (GRCm39)		noncoding transcript	Het
Robo3	T	C	9: 37,329,005 (GRCm39)	R1238G	possibly damaging	Het
Rp9	T	G	9: 22,365,097 (GRCm39)	Q35P	probably damaging	Het
Rsrc1	C	A	3: 67,262,808 (GRCm39)	A254E	probably damaging	Het
Shtn1	T	A	19: 58,998,222 (GRCm39)	K390N	probably damaging	Het
Sidt2	C	T	9: 45,864,517 (GRCm39)	V71I	probably benign	Het
Sirt7	A	G	11: 120,515,365 (GRCm39)	V97A	possibly damaging	Het
Slc14a2	A	G	18: 78,206,419 (GRCm39)	S466P	probably benign	Het
Slc2a10	T	A	2: 165,357,361 (GRCm39)	D340E	probably benign	Het
Slc36a2	A	C	11: 55,075,735 (GRCm39)	N17K	probably benign	Het
Slc4a10	A	C	2: 62,155,071 (GRCm39)	N1086T	probably benign	Het
Sptb	T	C	12: 76,676,423 (GRCm39)	D177G	probably damaging	Het
Srpk2	A	T	5: 23,730,748 (GRCm39)		probably null	Het
Sucla2	T	G	14: 73,830,121 (GRCm39)	V386G	probably damaging	Het
Susd1	G	T	4: 59,424,089 (GRCm39)	N45K	possibly damaging	Het
Tbxas1	T	C	6: 38,994,822 (GRCm39)		probably benign	Het
Topors	C	T	4: 40,261,776 (GRCm39)	E503K	probably damaging	Het
Trpv5	T	C	6: 41,634,731 (GRCm39)	R533G	probably benign	Het
Tshr	A	G	12: 91,504,115 (GRCm39)	H351R	possibly damaging	Het
Ube2f	G	A	1: 91,203,037 (GRCm39)	V94M	probably damaging	Het
Ugdh	A	G	5: 65,580,521 (GRCm39)	S216P	probably damaging	Het
Unc45b	T	A	11: 82,802,531 (GRCm39)		probably null	Het
Vmn1r226	A	G	17: 20,908,335 (GRCm39)	E189G	probably damaging	Het
Xrcc6	T	G	15: 81,913,900 (GRCm39)	D75E	probably benign	Het
Ypel1	A	G	16: 16,921,474 (GRCm39)	L70P	probably damaging	Het
Zcwpw1	A	T	5: 137,795,022 (GRCm39)	R73W	probably damaging	Het
Zfp219	T	C	14: 52,246,512 (GRCm39)	E160G	probably damaging	Het
Zfp804b	G	T	5: 7,229,533 (GRCm39)		probably benign	Het
Zscan22	C	A	7: 12,640,730 (GRCm39)	P325T	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
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
R5582:Clic6	UTSW	16	92,296,342 (GRCm39)	missense	possibly damaging	0.93
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'- CGAGCATCATCCCTGTATCACATCC -3'
(R):5'- TGGTCCCTAGCAGTGTATGTGAGC -3'

Sequencing Primer
(F):5'- CCTGTCATAGACCCTGAGTTAAATGG -3'
(R):5'- CCCAATTTCTGCAACGACAC -3'

Posted On

2014-05-09