Mutagenetix > Incidental Mutation

Incidental Mutation 'R0491:Clic3'

42448

Institutional Source

Beutler Lab

Gene Symbol

Clic3

Ensembl Gene

ENSMUSG00000015093

Gene Name

chloride intracellular channel 3

Synonyms

2300003G24Rik

MMRRC Submission

038689-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R0491 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25346855-25348789 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 25347797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102918] [ENSMUST00000114261] [ENSMUST00000114265] [ENSMUST00000151239]

AlphaFold

Q9D7P7

Predicted Effect

probably benign
Transcript: ENSMUST00000102918

SMART Domains

Protein: ENSMUSP00000099982
Gene: ENSMUSG00000015093

Domain	Start	End	E-Value	Type
Pfam:GST_N_3	17	89	9.8e-11	PFAM
Pfam:GST_N_2	20	84	1.6e-8	PFAM
Pfam:GST_C_2	77	207	6.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114261

SMART Domains

Protein: ENSMUSP00000109899
Gene: ENSMUSG00000047617

Domain	Start	End	E-Value	Type
Pfam:PAXX	10	205	5.7e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114265

SMART Domains

Protein: ENSMUSP00000109904
Gene: ENSMUSG00000015093

Domain	Start	End	E-Value	Type
Pfam:GST_N_3	19	91	2e-11	PFAM
Pfam:GST_N_2	22	86	3.6e-9	PFAM
Pfam:GST_C_2	80	209	1.2e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140022

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143862

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138079

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130130

Predicted Effect

probably benign
Transcript: ENSMUST00000151239

SMART Domains

Protein: ENSMUSP00000120533
Gene: ENSMUSG00000047617

Domain	Start	End	E-Value	Type
Pfam:DUF4610	8	156	2.2e-64	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 3 is a member of the p64 family and is predominantly localized in the nucleus and stimulates chloride ion channel activity. In addition, this protein may participate in cellular growth control, based on its association with ERK7, a member of the MAP kinase family. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,248,235 (GRCm39)	F2661L	probably benign	Het
Acadsb	A	G	7: 131,031,836 (GRCm39)	D224G	probably benign	Het
Acsm1	A	G	7: 119,239,920 (GRCm39)	H288R	probably damaging	Het
Adamts2	A	G	11: 50,667,457 (GRCm39)	D465G	probably damaging	Het
Akap9	A	T	5: 4,022,851 (GRCm39)		probably benign	Het
Alms1	A	G	6: 85,679,582 (GRCm39)	T3240A	probably damaging	Het
Ap3d1	A	G	10: 80,555,075 (GRCm39)	W417R	probably damaging	Het
Arfgef1	C	A	1: 10,250,212 (GRCm39)		probably benign	Het
Atf6	A	G	1: 170,614,913 (GRCm39)		probably null	Het
Cacna1s	T	A	1: 136,016,746 (GRCm39)		probably benign	Het
Clcn1	T	C	6: 42,287,515 (GRCm39)	F740L	probably benign	Het
Clec12a	T	A	6: 129,341,016 (GRCm39)	D265E	probably benign	Het
Cntnap3	T	G	13: 64,909,859 (GRCm39)	T749P	probably benign	Het
Col11a2	T	A	17: 34,261,186 (GRCm39)	D45E	probably null	Het
Cplane1	T	A	15: 8,211,727 (GRCm39)	S356T	probably damaging	Het
Crxos	T	A	7: 15,632,460 (GRCm39)	S89T	probably benign	Het
Cxcr1	G	T	1: 74,231,468 (GRCm39)	P185T	possibly damaging	Het
Cyp20a1	T	A	1: 60,410,486 (GRCm39)	N262K	possibly damaging	Het
Dennd2b	T	A	7: 109,156,411 (GRCm39)	Q113L	probably benign	Het
Dpy19l2	T	C	9: 24,607,324 (GRCm39)	R46G	probably benign	Het
Dpysl2	A	T	14: 67,045,411 (GRCm39)	L454Q	probably damaging	Het
Dvl3	C	T	16: 20,346,173 (GRCm39)		probably benign	Het
Eppin	T	A	2: 164,431,332 (GRCm39)	E98V	possibly damaging	Het
Fancm	A	T	12: 65,152,835 (GRCm39)	H1097L	probably benign	Het
Fkbp4	A	G	6: 128,412,705 (GRCm39)	I75T	probably damaging	Het
Fmn2	A	G	1: 174,409,525 (GRCm39)	H586R	unknown	Het
Gm973	C	T	1: 59,597,393 (GRCm39)		probably benign	Het
Haus6	A	C	4: 86,521,083 (GRCm39)	V185G	possibly damaging	Het
Herc2	T	A	7: 55,772,114 (GRCm39)	C1098S	possibly damaging	Het
Hic1	C	A	11: 75,057,136 (GRCm39)	L584F	possibly damaging	Het
Itgb1bp1	C	A	12: 21,326,896 (GRCm39)		probably benign	Het
Kbtbd2	G	A	6: 56,757,374 (GRCm39)	R121*	probably null	Het
Lgr4	C	T	2: 109,837,626 (GRCm39)		probably benign	Het
Lrrc55	T	C	2: 85,022,264 (GRCm39)	E309G	probably damaging	Het
Mertk	T	C	2: 128,635,027 (GRCm39)		probably null	Het
Micu3	A	G	8: 40,819,294 (GRCm39)		probably benign	Het
Mmp11	G	A	10: 75,762,592 (GRCm39)	A287V	probably benign	Het
Mpzl2	A	G	9: 44,954,039 (GRCm39)	Y47C	probably damaging	Het
Muc5b	A	C	7: 141,415,752 (GRCm39)	R2899S	probably benign	Het
Myo1b	A	G	1: 51,794,857 (GRCm39)	Y1078H	probably benign	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Ncapd3	T	G	9: 26,969,179 (GRCm39)	V611G	probably damaging	Het
Ntpcr	C	T	8: 126,464,093 (GRCm39)	R73*	probably null	Het
Or4c120	A	T	2: 89,000,704 (GRCm39)	V284E	probably benign	Het
Or5b119	G	A	19: 13,456,857 (GRCm39)	A235V	probably damaging	Het
Osbp2	A	G	11: 3,664,709 (GRCm39)	F88S	probably damaging	Het
Pkn3	A	T	2: 29,979,889 (GRCm39)	T711S	probably damaging	Het
Plekhm1	T	C	11: 103,285,602 (GRCm39)	K278E	probably benign	Het
Ppp1r36	A	G	12: 76,486,065 (GRCm39)	T408A	probably benign	Het
Prss41	T	C	17: 24,061,477 (GRCm39)	T105A	possibly damaging	Het
Psme1	G	T	14: 55,817,378 (GRCm39)		probably benign	Het
Ptprq	A	T	10: 107,444,036 (GRCm39)	Y1523N	probably damaging	Het
Ric8b	A	G	10: 84,828,086 (GRCm39)	D470G	probably damaging	Het
Scarb1	A	G	5: 125,375,795 (GRCm39)		probably benign	Het
Slc25a54	G	A	3: 109,010,112 (GRCm39)	A204T	probably damaging	Het
Spink10	T	C	18: 62,793,036 (GRCm39)	C67R	probably damaging	Het
Tmtc1	A	T	6: 148,314,138 (GRCm39)		probably null	Het
Tprkb	A	G	6: 85,901,446 (GRCm39)	D28G	probably benign	Het
Ttll13	A	G	7: 79,910,098 (GRCm39)	H747R	probably benign	Het
Usp24	A	G	4: 106,259,302 (GRCm39)	S1608G	probably benign	Het
Utp20	A	T	10: 88,596,774 (GRCm39)	F2115L	probably damaging	Het
Vmn1r200	A	T	13: 22,579,361 (GRCm39)	I46L	probably benign	Het
Zdhhc8	A	T	16: 18,046,254 (GRCm39)	M103K	probably damaging	Het
Zfp595	C	T	13: 67,465,369 (GRCm39)	G298E	probably damaging	Het
Zfp738	T	G	13: 67,818,140 (GRCm39)	H617P	possibly damaging	Het
Zfp9	A	T	6: 118,442,163 (GRCm39)	H166Q	probably damaging	Het
Zp3r	C	A	1: 130,546,071 (GRCm39)	D80Y	probably damaging	Het

Other mutations in Clic3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
knife	UTSW	2	25,347,779 (GRCm39)	missense	possibly damaging	0.94
R0533:Clic3	UTSW	2	25,348,150 (GRCm39)	missense	probably damaging	1.00
R4798:Clic3	UTSW	2	25,348,194 (GRCm39)	missense	probably damaging	1.00
R4940:Clic3	UTSW	2	25,347,929 (GRCm39)	missense	probably benign	0.00
R5579:Clic3	UTSW	2	25,348,319 (GRCm39)	missense	probably damaging	0.99
R5713:Clic3	UTSW	2	25,348,179 (GRCm39)	missense	probably damaging	1.00
R6669:Clic3	UTSW	2	25,347,779 (GRCm39)	missense	possibly damaging	0.94
R7169:Clic3	UTSW	2	25,348,731 (GRCm39)	missense	probably benign	0.02
R8033:Clic3	UTSW	2	25,348,617 (GRCm39)	missense	probably benign	0.00
R9131:Clic3	UTSW	2	25,348,325 (GRCm39)	missense	probably benign	0.00
R9457:Clic3	UTSW	2	25,347,730 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACACTTGTAGATGCCATGCTCAACC -3'
(R):5'- GCAGTGTGTCTGTCTTGACATCCC -3'

Sequencing Primer
(F):5'- TCCAGAGCCAATGGCAGTG -3'
(R):5'- TTGACATCCCCATCGTACAG -3'

Posted On

2013-05-23