Mutagenetix > Incidental Mutation

Incidental Mutation 'R5579:Clic3'

438235

Institutional Source

Beutler Lab

Gene Symbol

Clic3

Ensembl Gene

ENSMUSG00000015093

Gene Name

chloride intracellular channel 3

Synonyms

MMRRC Submission

043267-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R5579 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25456838-25458776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25458307 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 128 (L128P)

Ref Sequence

ENSEMBL: ENSMUSP00000109904 (fasta)

Gene Model

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

AlphaFold

Q9D7P7

Predicted Effect

probably damaging
Transcript: ENSMUST00000102918
AA Change: L126P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099982
Gene: ENSMUSG00000015093
AA Change: L126P

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 damaging
Transcript: ENSMUST00000114265
AA Change: L128P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109904
Gene: ENSMUSG00000015093
AA Change: L128P

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: ENSMUST00000130130

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140022

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143862

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138079

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: 99.9%
3x: 99.8%
10x: 98.9%
20x: 97.0%

Validation Efficiency

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	T	C	3: 88,700,275	S345P	probably benign	Het
6430573F11Rik	T	C	8: 36,512,041	V266A	probably benign	Het
Abca3	G	T	17: 24,376,729	C352F	probably damaging	Het
Abce1	A	T	8: 79,700,586	I237N	possibly damaging	Het
Acrbp	A	G	6: 125,061,099	D421G	probably benign	Het
Adam8	T	A	7: 139,988,984	Y201F	probably benign	Het
Adgrf1	T	A	17: 43,311,064	C731S	probably damaging	Het
AF067063	T	A	13: 119,828,415	M82L	probably benign	Het
Akap8l	A	T	17: 32,321,942	I529N	probably damaging	Het
Akap9	G	A	5: 4,064,714	G114D	possibly damaging	Het
Alox12b	T	A	11: 69,162,932	D158E	probably benign	Het
Ankrd11	A	G	8: 122,884,231	S2639P	probably damaging	Het
Ankrd42	T	C	7: 92,590,182	Y466C	possibly damaging	Het
Apobr	T	C	7: 126,587,675	I786T	probably benign	Het
Arhgef12	C	T	9: 43,010,193	G329R	probably benign	Het
Btnl1	T	C	17: 34,381,552		probably null	Het
Ccdc174	A	G	6: 91,881,350		probably null	Het
Ccdc183	T	C	2: 25,615,422	D177G	possibly damaging	Het
Cd14	A	G	18: 36,726,235	Y56H	probably benign	Het
Cep162	G	A	9: 87,203,671	A1200V	probably benign	Het
Cntnap5b	A	T	1: 100,383,395	R538*	probably null	Het
Cntnap5b	A	T	1: 100,383,399	Q539L	probably benign	Het
Coq7	A	T	7: 118,517,335	N214K	unknown	Het
Cramp1l	G	A	17: 24,973,113	H1018Y	possibly damaging	Het
Crtac1	T	A	19: 42,304,806	D288V	probably damaging	Het
Dab2ip	C	T	2: 35,715,327	R132*	probably null	Het
Dis3l	C	A	9: 64,330,835	C125F	probably benign	Het
Dnmt1	A	T	9: 20,920,205	V543D	probably damaging	Het
Dock9	A	T	14: 121,599,695	L67Q	probably damaging	Het
Ehbp1	A	T	11: 22,137,846	S413T	probably damaging	Het
Endov	A	G	11: 119,505,097	I158V	probably benign	Het
Epb41l4b	A	G	4: 57,064,802	V469A	possibly damaging	Het
Etf1	G	A	18: 34,913,601	P119S	probably damaging	Het
Fam135a	A	G	1: 24,029,727	L491P	possibly damaging	Het
Fancd2	A	T	6: 113,560,051		probably null	Het
Fank1	T	A	7: 133,869,329		probably null	Het
Fbxo18	A	G	2: 11,748,993	I846T	probably damaging	Het
Gas2l3	T	C	10: 89,414,066	T397A	probably benign	Het
Gga1	T	C	15: 78,893,188	V513A	probably damaging	Het
Ggt1	T	C	10: 75,585,948	V543A	probably damaging	Het
Gm11596	A	T	11: 99,792,891	C134*	probably null	Het
Gnal	C	T	18: 67,088,771	R82C	unknown	Het
Hat1	T	C	2: 71,410,238	V92A	possibly damaging	Het
Icosl	C	T	10: 78,073,763	R181C	probably damaging	Het
Ift46	A	G	9: 44,786,863	M208V	possibly damaging	Het
Ighv1-26	T	C	12: 114,788,599	K42E	possibly damaging	Het
Ipo5	A	G	14: 120,938,613	K617E	probably benign	Het
Irx5	A	G	8: 92,359,913	D208G	probably benign	Het
Itgal	T	G	7: 127,306,929	V397G	probably benign	Het
Itpr2	G	A	6: 146,173,366	R2297*	probably null	Het
Itpr3	A	G	17: 27,113,519	D1779G	probably damaging	Het
Krt4	T	A	15: 101,921,234	E286D	probably benign	Het
Loxl4	C	T	19: 42,604,290	G317E	probably damaging	Het
Mapk6	T	G	9: 75,388,062	H718P	possibly damaging	Het
Mark2	A	C	19: 7,282,816	V14G	probably damaging	Het
Mbd5	A	G	2: 49,272,814	T1103A	possibly damaging	Het
Mcph1	A	G	8: 18,632,293	E482G	probably benign	Het
Mme	G	A	3: 63,348,645	E509K	probably damaging	Het
Mrgbp	A	G	2: 180,585,483	T204A	probably damaging	Het
Mycbp2	A	T	14: 103,291,333	F430I	probably damaging	Het
Myo6	A	G	9: 80,217,720	D27G	probably damaging	Het
Ncoa6	A	G	2: 155,406,677	L1569S	probably damaging	Het
Ndc1	T	A	4: 107,380,704	F235Y	possibly damaging	Het
Nmur2	A	T	11: 56,033,009	S240T	probably benign	Het
Olfr1176	A	T	2: 88,340,413	I283F	possibly damaging	Het
Olfr301	T	A	7: 86,412,726	Y121*	probably null	Het
Olfr608	G	A	7: 103,470,914	V292M	probably damaging	Het
Osbpl1a	G	T	18: 12,841,192	A62E	probably damaging	Het
Osbpl1a	A	C	18: 12,892,262	S333A	probably benign	Het
Otud4	C	T	8: 79,664,108	T417I	probably benign	Het
Pagr1a	T	C	7: 127,015,442	E197G	probably damaging	Het
Pcdh18	T	C	3: 49,744,977	Q1012R	probably damaging	Het
Pcdhgb5	A	C	18: 37,731,637	I162L	probably benign	Het
Pdpr	T	A	8: 111,123,816	Y462N	probably damaging	Het
Pkhd1	A	T	1: 20,523,142	H1582Q	probably damaging	Het
Polr1b	A	G	2: 129,110,108	K352R	probably damaging	Het
Poteg	G	A	8: 27,448,037	V12M	probably damaging	Het
Pou2f1	A	C	1: 165,915,162	V54G	probably damaging	Het
Ppme1	A	G	7: 100,344,975	L177P	probably damaging	Het
Prkce	A	G	17: 86,619,948	D550G	probably damaging	Het
Prrc2c	A	G	1: 162,680,758		probably null	Het
Ptpn22	A	G	3: 103,882,139		probably null	Het
Rabif	G	A	1: 134,506,205	V86M	probably damaging	Het
Rbm25	T	A	12: 83,668,507	M484K	probably benign	Het
Rcn2	G	A	9: 56,057,429	A224T	probably benign	Het
Rexo5	T	A	7: 119,834,403		probably null	Het
Rnase1	A	T	14: 51,145,762	I45N	probably benign	Het
Rnmt	T	A	18: 68,306,115	D98E	possibly damaging	Het
Rprd2	A	G	3: 95,785,059	F188L	probably damaging	Het
Scube2	G	A	7: 109,810,737	T643M	probably damaging	Het
Slc7a15	T	C	12: 8,539,344	I68V	probably benign	Het
Slco1a5	A	T	6: 142,242,125	V496D	possibly damaging	Het
Slitrk6	T	G	14: 110,751,217	S353R	possibly damaging	Het
Smpd5	T	A	15: 76,295,125	I53K	possibly damaging	Het
Tas2r108	T	C	6: 40,494,087	S166P	probably benign	Het
Tecpr1	C	A	5: 144,214,344	V245L	possibly damaging	Het
Tenm3	G	T	8: 48,236,764	N1929K	probably damaging	Het
Tigd5	T	G	15: 75,911,025	F412C	probably damaging	Het
Timm17a	A	T	1: 135,306,188	S74T	possibly damaging	Het
Tle1	A	T	4: 72,139,808	L60Q	probably damaging	Het
Tmem132d	T	C	5: 127,796,000	E515G	possibly damaging	Het
Tmem65	T	C	15: 58,794,397	N115S	probably benign	Het
Trmt5	C	A	12: 73,281,652	R259L	possibly damaging	Het
Ttc37	T	C	13: 76,185,200	W25R	probably damaging	Het
Vmn2r50	A	T	7: 10,050,089	W153R	probably benign	Het
Vwa3a	T	G	7: 120,768,173	S184A	probably benign	Het
Zbtb25	A	G	12: 76,349,164	L428P	possibly damaging	Het
Zbtb49	C	T	5: 38,200,816	D698N	probably damaging	Het
Zbtb8os	T	G	4: 129,340,735	D35E	probably damaging	Het
Zfp316	T	C	5: 143,264,491	T56A	unknown	Het
Zfp334	A	T	2: 165,380,487	C545*	probably null	Het
Zmiz1	C	A	14: 25,644,856	S247R	probably damaging	Het
Zscan18	A	G	7: 12,775,381		probably benign	Het
Zzef1	T	C	11: 72,900,637	V2189A	probably damaging	Het

Other mutations in Clic3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
knife	UTSW	2	25457767	missense	possibly damaging	0.94
R0491:Clic3	UTSW	2	25457785	unclassified	probably benign
R0533:Clic3	UTSW	2	25458138	missense	probably damaging	1.00
R4798:Clic3	UTSW	2	25458182	missense	probably damaging	1.00
R4940:Clic3	UTSW	2	25457917	missense	probably benign	0.00
R5713:Clic3	UTSW	2	25458167	missense	probably damaging	1.00
R6669:Clic3	UTSW	2	25457767	missense	possibly damaging	0.94
R7169:Clic3	UTSW	2	25458719	missense	probably benign	0.02
R8033:Clic3	UTSW	2	25458605	missense	probably benign	0.00
R9131:Clic3	UTSW	2	25458313	missense	probably benign	0.00
R9457:Clic3	UTSW	2	25457718	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTACAGGGAGTCCAACACAG -3'
(R):5'- TGTCCAAGTAGCGACGAAC -3'

Sequencing Primer
(F):5'- AGCGGGCAATGACATCTTC -3'
(R):5'- GACGAACGCAGGACAGTTCC -3'

Posted On

2016-10-26