Mutagenetix > Incidental Mutations

Incidental Mutation 'R7961:Clcc1'

650102

Institutional Source

Beutler Lab

Gene Symbol

Clcc1

Ensembl Gene

ENSMUSG00000027884

Gene Name

chloride channel CLIC-like 1

Synonyms

Mclc

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_001177770.1, NM_145543.2, NM_001177771.1; MGI:2385186

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7961 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108653913-108678840 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108661458 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 36 (N36S)

Ref Sequence

ENSEMBL: ENSMUSP00000102224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029483] [ENSMUST00000106609] [ENSMUST00000106613] [ENSMUST00000124384]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029483
AA Change: N31S

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

SMART Domains

Protein: ENSMUSP00000029483
Gene: ENSMUSG00000027884
AA Change: N31S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106609
AA Change: N31S

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

SMART Domains

Protein: ENSMUSP00000102220
Gene: ENSMUSG00000027884
AA Change: N31S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106613
AA Change: N36S

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

SMART Domains

Protein: ENSMUSP00000102224
Gene: ENSMUSG00000027884
AA Change: N36S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000124384
AA Change: N31S

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

SMART Domains

Protein: ENSMUSP00000118529
Gene: ENSMUSG00000027884
AA Change: N31S

Domain	Start	End	E-Value	Type
Pfam:MCLC	3	84	4.2e-37	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (44/47)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,828,870	N751K	possibly damaging	Het
Bckdha	G	A	7: 25,631,478	R288W	probably damaging	Het
C87414	T	C	5: 93,636,684	D307G	probably damaging	Het
Ccng1	G	A	11: 40,751,269	H229Y	probably benign	Het
Cenpn	C	A	8: 116,937,237	T256N	probably benign	Het
Ciart	A	G	3: 95,881,317	V70A	possibly damaging	Het
Cntnap1	G	A	11: 101,178,295	A192T	probably benign	Het
Dmrt1	T	A	19: 25,545,881	S199T	possibly damaging	Het
Dmrt3	T	C	19: 25,610,908	V37A	possibly damaging	Het
Dock1	T	A	7: 134,745,057	D239E	possibly damaging	Het
Dyrk3	A	G	1: 131,136,258		probably null	Het
Engase	A	G	11: 118,486,860	D571G	possibly damaging	Het
Gm45871	C	T	18: 90,591,759	H374Y	probably damaging	Het
Icam5	T	C	9: 21,038,755	V870A	possibly damaging	Het
Idh2	T	C	7: 80,098,253	H233R	probably benign	Het
Kcna5	A	G	6: 126,533,554	L537P	probably benign	Het
Krt71	T	C	15: 101,735,442	I454V	probably damaging	Het
Krtap5-4	C	T	7: 142,303,934	Q114*	probably null	Het
Loxl3	T	C	6: 83,050,809	F734S	possibly damaging	Het
Lpcat1	C	T	13: 73,511,379	T420I	probably damaging	Het
Mia2	T	A	12: 59,159,639		probably null	Het
Neurod4	A	T	10: 130,270,487	V306D	possibly damaging	Het
Nkiras2	A	T	11: 100,619,802		probably benign	Het
Nrp2	C	T	1: 62,745,408	R239C	probably damaging	Het
Ntrk3	T	A	7: 78,453,328	D408V	probably benign	Het
Nubpl	T	A	12: 52,181,297	L168*	probably null	Het
Odf1	A	G	15: 38,226,596	I247V	unknown	Het
Olfr1170	C	A	2: 88,224,689	M114I	possibly damaging	Het
Olfr1260	A	G	2: 89,977,787	Q3R	probably benign	Het
Olfr1298	G	A	2: 111,645,937	S20F	probably damaging	Het
Pcsk1	T	C	13: 75,126,839	S516P	probably benign	Het
Pikfyve	A	G	1: 65,255,134	D1411G	probably damaging	Het
Polm	T	C	11: 5,830,155	D294G	possibly damaging	Het
Ppcs	A	T	4: 119,419,065	S281T	probably benign	Het
Pspc1	G	A	14: 56,771,847	Q177*	probably null	Het
Rbm33	G	A	5: 28,394,608	G185R		Het
Satb2	A	G	1: 56,871,758	S243P	probably benign	Het
Serinc5	T	C	13: 92,661,191		probably null	Het
Sgsm1	T	C	5: 113,282,644	T292A	probably damaging	Het
Smad3	G	A	9: 63,650,282	R420C	possibly damaging	Het
Sntg1	C	T	1: 8,363,570	V486I	probably damaging	Het
Tep1	A	G	14: 50,824,230	S2610P	possibly damaging	Het
Tmem200a	A	G	10: 25,994,006	S122P	probably damaging	Het
Tnks2	T	A	19: 36,852,501	M194K	probably benign	Het
Trav14d-3-dv8	A	C	14: 53,078,767	Q28P	probably damaging	Het
Trpm5	T	C	7: 143,080,369	E700G	probably benign	Het
Ubqln3	T	A	7: 104,142,590	I98L	probably benign	Het
Usp25	A	G	16: 77,059,262	I248V	probably damaging	Het
Vmn1r28	T	C	6: 58,265,193	V7A	probably benign	Het
Zfp60	G	A	7: 27,748,456	G183D	probably benign	Het

Other mutations in Clcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01443:Clcc1	APN	3	108670903	missense	probably benign	0.04
IGL01683:Clcc1	APN	3	108676796	missense	probably benign	0.00
IGL02067:Clcc1	APN	3	108668721	missense	probably damaging	0.99
IGL02341:Clcc1	APN	3	108673383	missense	possibly damaging	0.60
B6584:Clcc1	UTSW	3	108672913	missense	probably damaging	1.00
R0014:Clcc1	UTSW	3	108661396	nonsense	probably null
R0733:Clcc1	UTSW	3	108674740	missense	probably benign	0.00
R1151:Clcc1	UTSW	3	108668043	missense	probably damaging	1.00
R1432:Clcc1	UTSW	3	108668102	missense	probably benign	0.11
R3546:Clcc1	UTSW	3	108668113	missense	probably benign	0.00
R3547:Clcc1	UTSW	3	108668113	missense	probably benign	0.00
R3548:Clcc1	UTSW	3	108668113	missense	probably benign	0.00
R3932:Clcc1	UTSW	3	108673366	missense	probably damaging	1.00
R4210:Clcc1	UTSW	3	108663591	missense	possibly damaging	0.90
R4211:Clcc1	UTSW	3	108663591	missense	possibly damaging	0.90
R4756:Clcc1	UTSW	3	108672920	splice site	probably null
R4856:Clcc1	UTSW	3	108676838	missense	probably benign	0.02
R4886:Clcc1	UTSW	3	108676838	missense	probably benign	0.02
R5858:Clcc1	UTSW	3	108661428	missense	probably damaging	1.00
R6258:Clcc1	UTSW	3	108673308	missense	possibly damaging	0.73
R6301:Clcc1	UTSW	3	108673366	missense	probably damaging	1.00
R6414:Clcc1	UTSW	3	108676851	missense	possibly damaging	0.90
R6944:Clcc1	UTSW	3	108670968	missense	probably damaging	1.00
R6965:Clcc1	UTSW	3	108673309	missense	probably damaging	0.99
R7331:Clcc1	UTSW	3	108668078	missense	probably damaging	1.00
R8009:Clcc1	UTSW	3	108661458	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGAAAGTGTTAGCTCTAGAAGG -3'
(R):5'- GCATGACAGCTAATCCATCGTTTG -3'

Sequencing Primer
(F):5'- AAGTGTTAGCTCTAGAAGGAAGTAG -3'
(R):5'- GACAGCTAATCCATCGTTTGTGACTC -3'

Posted On

2020-09-15