Mutagenetix > Incidental Mutation

Incidental Mutation 'R4756:Clcc1'

357993

Institutional Source

Beutler Lab

Gene Symbol

Clcc1

Ensembl Gene

ENSMUSG00000027884

Gene Name

chloride channel CLIC-like 1

Synonyms

Mclc

MMRRC Submission

041972-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4756 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108561229-108586156 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 108580236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029483] [ENSMUST00000106609] [ENSMUST00000106613]

AlphaFold

Q99LI2

Predicted Effect

probably null
Transcript: ENSMUST00000029483

SMART Domains

Protein: ENSMUSP00000029483
Gene: ENSMUSG00000027884

Domain	Start	End	E-Value	Type
Pfam:MCLC	3	539	2e-266	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000106609

SMART Domains

Protein: ENSMUSP00000102220
Gene: ENSMUSG00000027884

Domain	Start	End	E-Value	Type
Pfam:MCLC	3	539	2e-266	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000106613

SMART Domains

Protein: ENSMUSP00000102224
Gene: ENSMUSG00000027884

Domain	Start	End	E-Value	Type
Pfam:MCLC	8	544	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156811

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a spontaneous mutation show strain-dependent cerebellar granule cell death and peripheral motor axon degeneration. The peripheral neuropathy, neurogenic muscular atrophy and mild truncal ataxia observed on the C57BL/6J background is not found on the C3H/HeSnJ background. [provided by MGI curators]

Allele List at MGI

All alleles(12) : Targeted(1) Gene trapped(11)

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,336,830 (GRCm39)	M45L	probably benign	Het
Acss2	T	C	2: 155,403,063 (GRCm39)	F627L	probably damaging	Het
Akap8	A	G	17: 32,535,184 (GRCm39)	S277P	probably damaging	Het
Akap9	T	A	5: 4,051,418 (GRCm39)	M1395K	probably damaging	Het
Ank1	A	G	8: 23,612,893 (GRCm39)	D1468G	probably benign	Het
Apoe	A	G	7: 19,430,846 (GRCm39)	V121A	probably benign	Het
Aqp9	A	T	9: 71,070,331 (GRCm39)	L12H	probably damaging	Het
Atp2b4	G	A	1: 133,639,529 (GRCm39)	A1115V	probably benign	Het
Atp2b4	G	A	1: 133,667,134 (GRCm39)	P139L	probably benign	Het
B430218F22Rik	T	C	13: 118,523,980 (GRCm39)		probably benign	Het
Bltp2	T	A	11: 78,154,854 (GRCm39)	L122H	probably damaging	Het
Brsk1	A	G	7: 4,711,866 (GRCm39)	E572G	possibly damaging	Het
C6	T	C	15: 4,811,394 (GRCm39)	I414T	probably benign	Het
C8b	T	A	4: 104,644,083 (GRCm39)	M250K	probably benign	Het
Camk1g	T	A	1: 193,044,393 (GRCm39)	E7V	probably benign	Het
Col4a3	G	T	1: 82,694,018 (GRCm39)		probably null	Het
Cox5b	T	A	1: 36,732,310 (GRCm39)	W104R	probably damaging	Het
Cyp2c55	A	C	19: 39,019,815 (GRCm39)	H251P	probably damaging	Het
Cyp2c67	G	A	19: 39,632,188 (GRCm39)	T60I	probably benign	Het
Defb42	T	A	14: 63,285,824 (GRCm39)	V68E	probably benign	Het
Ercc4	T	A	16: 12,941,287 (GRCm39)	I225N	probably damaging	Het
Fam120b	G	T	17: 15,622,658 (GRCm39)	C212F	probably damaging	Het
Fgf10	T	C	13: 118,918,045 (GRCm39)	V111A	probably benign	Het
Fn1	G	T	1: 71,629,967 (GRCm39)	T2186K	probably damaging	Het
Fras1	T	C	5: 96,929,518 (GRCm39)	V3974A	probably benign	Het
Galnt4	T	C	10: 98,944,362 (GRCm39)	V29A	probably benign	Het
Gpr26	T	C	7: 131,569,230 (GRCm39)	Y192H	probably damaging	Het
Heatr9	A	T	11: 83,407,475 (GRCm39)	L236Q	probably damaging	Het
Hivep3	C	A	4: 119,955,020 (GRCm39)	P1112H	probably damaging	Het
Hnf4g	A	G	3: 3,708,069 (GRCm39)	Y106C	possibly damaging	Het
Hnrnpdl	A	T	5: 100,185,783 (GRCm39)	Y69*	probably null	Het
Itgb1	G	A	8: 129,443,703 (GRCm39)	A320T	probably damaging	Het
Kcna2	T	C	3: 107,012,733 (GRCm39)	I438T	probably benign	Het
Kif24	A	G	4: 41,397,545 (GRCm39)		probably null	Het
Klhl1	G	A	14: 96,389,402 (GRCm39)	T584I	probably benign	Het
Ltbp1	A	G	17: 75,532,199 (GRCm39)	D91G	probably damaging	Het
Mdga2	T	C	12: 66,844,427 (GRCm39)	I190M	probably damaging	Het
Meis2	G	A	2: 115,830,686 (GRCm39)	R276C	probably damaging	Het
Mob4	C	T	1: 55,191,855 (GRCm39)	R190W	probably damaging	Het
Mrgpra2a	A	G	7: 47,077,114 (GRCm39)	I48T	possibly damaging	Het
Mst1	T	C	9: 107,960,826 (GRCm39)	V481A	probably benign	Het
Mttp	A	T	3: 137,821,832 (GRCm39)	V245E	possibly damaging	Het
Nbn	T	A	4: 15,981,470 (GRCm39)	S521T	probably benign	Het
Neb	G	T	2: 52,083,243 (GRCm39)	T5654N	probably damaging	Het
Nlrp9a	A	T	7: 26,256,866 (GRCm39)	K161N	probably damaging	Het
Nod2	T	G	8: 89,390,902 (GRCm39)	F388C	possibly damaging	Het
Or3a1	G	T	11: 74,225,402 (GRCm39)	F218L	probably benign	Het
Or4a75	G	T	2: 89,447,814 (GRCm39)	H241N	possibly damaging	Het
Or4f58	A	G	2: 111,851,332 (GRCm39)	F289S	possibly damaging	Het
Or52e2	A	T	7: 102,804,332 (GRCm39)	N207K	probably benign	Het
Or7a38	T	A	10: 78,753,361 (GRCm39)	I229N	probably damaging	Het
Or7g25	G	A	9: 19,160,153 (GRCm39)	L181F	possibly damaging	Het
P2ry1	A	G	3: 60,911,898 (GRCm39)	S346G	probably benign	Het
Polr1f	T	A	12: 33,487,679 (GRCm39)		probably null	Het
Prkcd	A	G	14: 30,321,623 (GRCm39)	F524L	probably benign	Het
Qrfprl	T	C	6: 65,429,898 (GRCm39)	I198T	probably benign	Het
Ramp3	A	T	11: 6,624,843 (GRCm39)	M46L	probably benign	Het
Rint1	T	C	5: 24,014,791 (GRCm39)	Y278H	probably damaging	Het
Skint11	C	T	4: 114,051,874 (GRCm39)	T74I	probably benign	Het
Slc10a7	T	C	8: 79,433,579 (GRCm39)		probably null	Het
Slc45a2	T	A	15: 11,028,016 (GRCm39)	Y528*	probably null	Het
Slit1	A	G	19: 41,637,452 (GRCm39)	F329L	probably damaging	Het
Sltm	A	T	9: 70,498,892 (GRCm39)	M989L	possibly damaging	Het
Smad9	A	T	3: 54,701,874 (GRCm39)	T372S	possibly damaging	Het
Snrpc	T	A	17: 28,061,306 (GRCm39)	Y38*	probably null	Het
Spag17	A	G	3: 100,010,701 (GRCm39)	K2065R	possibly damaging	Het
Stxbp4	T	A	11: 90,498,197 (GRCm39)	K87N	probably damaging	Het
Tbc1d23	AT	ATT	16: 57,019,258 (GRCm39)		probably null	Het
Tgfb1i1	A	T	7: 127,848,571 (GRCm39)	M96L	probably damaging	Het
Tnc	T	A	4: 63,885,580 (GRCm39)	I1841F	probably damaging	Het
Ubap2	G	T	4: 41,211,771 (GRCm39)	H63Q	probably damaging	Het
Vps13a	T	C	19: 16,632,580 (GRCm39)	N2592S	probably benign	Het
Xdh	G	A	17: 74,193,381 (GRCm39)	P1305L	probably benign	Het
Xrn1	G	A	9: 95,921,862 (GRCm39)	R1425K	probably benign	Het
Zfp418	G	A	7: 7,185,762 (GRCm39)	R575Q	possibly damaging	Het
Zfp608	T	A	18: 55,027,544 (GRCm39)	Q1424H	probably damaging	Het
Zfp839	C	A	12: 110,821,635 (GRCm39)	L150I	possibly damaging	Het

Other mutations in Clcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01443:Clcc1	APN	3	108,578,219 (GRCm39)	missense	probably benign	0.04
IGL01683:Clcc1	APN	3	108,584,112 (GRCm39)	missense	probably benign	0.00
IGL02067:Clcc1	APN	3	108,576,037 (GRCm39)	missense	probably damaging	0.99
IGL02341:Clcc1	APN	3	108,580,699 (GRCm39)	missense	possibly damaging	0.60
B6584:Clcc1	UTSW	3	108,580,229 (GRCm39)	missense	probably damaging	1.00
R0014:Clcc1	UTSW	3	108,568,712 (GRCm39)	nonsense	probably null
R0733:Clcc1	UTSW	3	108,582,056 (GRCm39)	missense	probably benign	0.00
R1151:Clcc1	UTSW	3	108,575,359 (GRCm39)	missense	probably damaging	1.00
R1432:Clcc1	UTSW	3	108,575,418 (GRCm39)	missense	probably benign	0.11
R3546:Clcc1	UTSW	3	108,575,429 (GRCm39)	missense	probably benign	0.00
R3547:Clcc1	UTSW	3	108,575,429 (GRCm39)	missense	probably benign	0.00
R3548:Clcc1	UTSW	3	108,575,429 (GRCm39)	missense	probably benign	0.00
R3932:Clcc1	UTSW	3	108,580,682 (GRCm39)	missense	probably damaging	1.00
R4210:Clcc1	UTSW	3	108,570,907 (GRCm39)	missense	possibly damaging	0.90
R4211:Clcc1	UTSW	3	108,570,907 (GRCm39)	missense	possibly damaging	0.90
R4856:Clcc1	UTSW	3	108,584,154 (GRCm39)	missense	probably benign	0.02
R4886:Clcc1	UTSW	3	108,584,154 (GRCm39)	missense	probably benign	0.02
R5858:Clcc1	UTSW	3	108,568,744 (GRCm39)	missense	probably damaging	1.00
R6258:Clcc1	UTSW	3	108,580,624 (GRCm39)	missense	possibly damaging	0.73
R6301:Clcc1	UTSW	3	108,580,682 (GRCm39)	missense	probably damaging	1.00
R6414:Clcc1	UTSW	3	108,584,167 (GRCm39)	missense	possibly damaging	0.90
R6944:Clcc1	UTSW	3	108,578,284 (GRCm39)	missense	probably damaging	1.00
R6965:Clcc1	UTSW	3	108,580,625 (GRCm39)	missense	probably damaging	0.99
R7331:Clcc1	UTSW	3	108,575,394 (GRCm39)	missense	probably damaging	1.00
R7961:Clcc1	UTSW	3	108,568,774 (GRCm39)	missense	probably damaging	1.00
R8009:Clcc1	UTSW	3	108,568,774 (GRCm39)	missense	probably damaging	1.00
R9313:Clcc1	UTSW	3	108,581,976 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATTTACTAGTGGGTGGGCACAG -3'
(R):5'- TGAATCTCTCATAGAGCTCAAGC -3'

Sequencing Primer
(F):5'- CAGTCAAAACCAAACTGATCTTGTG -3'
(R):5'- AGGCCTTGAACGATGTCCTC -3'

Posted On

2015-11-11