Mutagenetix > Incidental Mutation

Incidental Mutation 'R6414:Clcc1'

514845

Institutional Source

Beutler Lab

Gene Symbol

Clcc1

Ensembl Gene

ENSMUSG00000027884

Gene Name

chloride channel CLIC-like 1

Synonyms

Mclc

MMRRC Submission

044556-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6414 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108561229-108586156 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108584167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 517 (C517Y)

Ref Sequence

ENSEMBL: ENSMUSP00000102224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029482] [ENSMUST00000029483] [ENSMUST00000106609] [ENSMUST00000106613]

AlphaFold

Q99LI2

Predicted Effect

probably benign
Transcript: ENSMUST00000029482

SMART Domains

Protein: ENSMUSP00000029482
Gene: ENSMUSG00000027883

Domain	Start	End	E-Value	Type
TPR	62	95	7.86e-3	SMART
TPR	102	135	4.34e-5	SMART
Blast:TPR	142	188	9e-22	BLAST
TPR	202	235	1.69e-2	SMART
TPR	242	275	3.99e-4	SMART
TPR	282	315	1.51e-4	SMART
TPR	322	355	1.04e-2	SMART
GoLoco	490	512	3.69e-9	SMART
low complexity region	518	527	N/A	INTRINSIC
GoLoco	543	565	7.27e-8	SMART
GoLoco	594	616	2.31e-10	SMART
GoLoco	628	650	2.75e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029483
AA Change: C512Y

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029483
Gene: ENSMUSG00000027884
AA Change: C512Y

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106609
AA Change: C512Y

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102220
Gene: ENSMUSG00000027884
AA Change: C512Y

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106613
AA Change: C517Y

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102224
Gene: ENSMUSG00000027884
AA Change: C517Y

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	A	4: 144,503,985 (GRCm39)	I389L	possibly damaging	Het
Acap1	A	G	11: 69,775,162 (GRCm39)	V367A	probably benign	Het
Alpk1	T	C	3: 127,473,858 (GRCm39)	D715G	probably benign	Het
Atg101	T	A	15: 101,188,341 (GRCm39)	C149S	probably benign	Het
Atp2c1	A	T	9: 105,343,855 (GRCm39)	I84N	probably damaging	Het
Ceacam20	C	A	7: 19,710,056 (GRCm39)	A360E	probably damaging	Het
Chd3	A	T	11: 69,243,371 (GRCm39)		probably null	Het
Col6a5	T	C	9: 105,769,465 (GRCm39)		probably null	Het
Ctnna3	T	C	10: 64,096,644 (GRCm39)	V394A	probably benign	Het
Ctsll3	A	G	13: 60,948,113 (GRCm39)	F188S	probably damaging	Het
Cyth4	T	C	15: 78,492,346 (GRCm39)	V125A	probably damaging	Het
Ddx43	G	A	9: 78,308,218 (GRCm39)	V131I	probably benign	Het
Elp4	A	G	2: 105,734,788 (GRCm39)	S16P	possibly damaging	Het
Espl1	T	A	15: 102,223,995 (GRCm39)	V1182E	probably damaging	Het
Fhod3	T	C	18: 25,223,935 (GRCm39)	S1094P	possibly damaging	Het
Fmo6	A	T	1: 162,748,014 (GRCm39)	V350D	probably damaging	Het
Frem1	A	G	4: 82,858,773 (GRCm39)	F1545S	probably damaging	Het
Gata3	T	A	2: 9,863,245 (GRCm39)	H423L	possibly damaging	Het
Golt1a	A	T	1: 133,248,032 (GRCm39)	M87L	probably damaging	Het
Gpr171	A	T	3: 59,005,544 (GRCm39)	V77E	probably damaging	Het
Hectd2	A	G	19: 36,596,186 (GRCm39)	D757G	probably benign	Het
Hmmr	A	G	11: 40,606,694 (GRCm39)		probably null	Het
Il31ra	A	G	13: 112,660,441 (GRCm39)	V635A	possibly damaging	Het
Lama1	T	C	17: 68,053,905 (GRCm39)		probably null	Het
Ltbp4	G	A	7: 27,010,140 (GRCm39)	P1140L	probably damaging	Het
Macf1	A	G	4: 123,386,988 (GRCm39)	L1210P	possibly damaging	Het
Meox2	A	T	12: 37,158,830 (GRCm39)	M1L	probably benign	Het
Mex3d	A	G	10: 80,217,205 (GRCm39)	S671P	unknown	Het
Mrgprb2	C	T	7: 48,202,129 (GRCm39)	V199I	probably benign	Het
Mroh9	A	T	1: 162,902,271 (GRCm39)	V114E	probably damaging	Het
Muc5b	A	G	7: 141,412,834 (GRCm39)	K1927E	unknown	Het
Or4f52	A	C	2: 111,061,497 (GRCm39)		probably null	Het
Or6c35	T	A	10: 129,169,578 (GRCm39)	I276K	probably benign	Het
Otogl	C	T	10: 107,617,911 (GRCm39)	C1734Y	probably damaging	Het
Parp4	T	A	14: 56,864,838 (GRCm39)		probably null	Het
Pcdh15	T	A	10: 74,021,258 (GRCm39)	N162K	probably damaging	Het
Pcdhb10	A	C	18: 37,546,898 (GRCm39)	H658P	possibly damaging	Het
Pgm2l1	G	T	7: 99,904,747 (GRCm39)	A160S	possibly damaging	Het
Prkag2	T	A	5: 25,305,178 (GRCm39)		probably benign	Het
Rap1gap2	A	G	11: 74,296,616 (GRCm39)	L457P	probably damaging	Het
Rasef	C	T	4: 73,658,818 (GRCm39)	V463M	probably benign	Het
Rb1	T	C	14: 73,520,414 (GRCm39)	S42G	unknown	Het
Reep3	C	A	10: 66,875,356 (GRCm39)	V36F	probably damaging	Het
Rhcg	A	G	7: 79,248,716 (GRCm39)		probably null	Het
Sbno1	T	C	5: 124,533,994 (GRCm39)	S661G	probably benign	Het
Slc25a3	T	G	10: 90,958,190 (GRCm39)	Q50P	possibly damaging	Het
Slc2a13	T	A	15: 91,228,008 (GRCm39)	I395F	probably benign	Het
Slc6a5	C	T	7: 49,559,991 (GRCm39)		probably benign	Het
Snta1	G	C	2: 154,219,987 (GRCm39)	T391S	possibly damaging	Het
Spata7	T	C	12: 98,629,479 (GRCm39)		probably null	Het
Stx17	A	G	4: 48,158,809 (GRCm39)		probably null	Het
Terf2	A	T	8: 107,803,486 (GRCm39)	S365T	probably benign	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Trim8	A	T	19: 46,491,346 (GRCm39)	H155L	probably benign	Het
Wipi2	T	A	5: 142,641,693 (GRCm39)	V83D	probably damaging	Het
Zbtb47	T	G	9: 121,592,725 (GRCm39)	D348E	probably benign	Het
Zfp316	C	A	5: 143,240,639 (GRCm39)	R460L	possibly damaging	Het
Zfp799	C	T	17: 33,039,259 (GRCm39)	V336M	probably damaging	Het
Zfp947	A	T	17: 22,365,395 (GRCm39)	I93N	probably damaging	Het
Zranb3	A	G	1: 127,968,694 (GRCm39)	Y74H	probably benign	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
R4756:Clcc1	UTSW	3	108,580,236 (GRCm39)	splice site	probably null
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
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'- CATGTAGTTTTGTGACACTTAGTGC -3'
(R):5'- GAGCTATATCCTAACAGCTAAGAGG -3'

Sequencing Primer
(F):5'- GTGACACTTAGTGCTTTAATTATGC -3'
(R):5'- GGTACTCTGATGGTCTGTAAAATTAC -3'

Posted On

2018-05-04