Mutagenetix > Incidental Mutation

Incidental Mutation 'R1432:Clcc1'

162285

Institutional Source

Beutler Lab

Gene Symbol

Clcc1

Ensembl Gene

ENSMUSG00000027884

Gene Name

chloride channel CLIC-like 1

Synonyms

Mclc

MMRRC Submission

039487-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108561229-108586156 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108575418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 165 (I165T)

Ref Sequence

ENSEMBL: ENSMUSP00000102224 (fasta)

Gene Model

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

AlphaFold

Q99LI2

Predicted Effect

probably benign
Transcript: ENSMUST00000029483
AA Change: I160T

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000029483
Gene: ENSMUSG00000027884
AA Change: I160T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106609
AA Change: I160T

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102220
Gene: ENSMUSG00000027884
AA Change: I160T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106613
AA Change: I165T

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102224
Gene: ENSMUSG00000027884
AA Change: I165T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124384

SMART Domains

Protein: ENSMUSP00000118529
Gene: ENSMUSG00000027884

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156811

Meta Mutation Damage Score

0.0860

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.4%
20x: 86.1%

Validation Efficiency

98% (90/92)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,217,361 (GRCm39)		probably null	Het
9130401M01Rik	A	T	15: 57,892,256 (GRCm39)	L117Q	probably damaging	Het
Abcb1b	A	G	5: 8,887,771 (GRCm39)	K886E	possibly damaging	Het
Acaa2	A	T	18: 74,920,198 (GRCm39)	I9F	probably damaging	Het
Acap2	A	T	16: 30,929,901 (GRCm39)	S386T	probably damaging	Het
Acsm2	A	T	7: 119,172,798 (GRCm39)	I138F	possibly damaging	Het
Agl	T	C	3: 116,540,342 (GRCm39)	Y1424C	probably damaging	Het
Aoc1l1	T	A	6: 48,952,588 (GRCm39)	F171Y	probably damaging	Het
Apc2	T	C	10: 80,148,183 (GRCm39)	V1079A	probably benign	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Armc8	C	T	9: 99,405,185 (GRCm39)		probably benign	Het
Catsperb	A	G	12: 101,588,476 (GRCm39)	Y953C	probably damaging	Het
Cdk13	G	A	13: 17,893,001 (GRCm39)	A720V	probably damaging	Het
Chka	T	C	19: 3,924,809 (GRCm39)		probably benign	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Dip2c	C	A	13: 9,603,340 (GRCm39)	P297Q	probably damaging	Het
Dnah17	A	T	11: 117,914,153 (GRCm39)	W4429R	probably damaging	Het
Dram2	T	C	3: 106,478,082 (GRCm39)	V138A	possibly damaging	Het
Dus4l	T	C	12: 31,698,770 (GRCm39)	N78S	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Ebf1	T	C	11: 44,895,533 (GRCm39)		probably benign	Het
Epm2a	T	A	10: 11,266,587 (GRCm39)	Y111N	probably damaging	Het
Gm773	T	C	X: 55,247,377 (GRCm39)	T52A	probably benign	Het
Gpam	C	A	19: 55,067,693 (GRCm39)	M483I	probably damaging	Het
Gpr12	T	C	5: 146,520,235 (GRCm39)	H229R	probably damaging	Het
Gpr149	T	C	3: 62,438,439 (GRCm39)	T573A	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hells	T	A	19: 38,945,628 (GRCm39)		probably null	Het
Herc1	T	A	9: 66,372,751 (GRCm39)	N3102K	probably benign	Het
Herc3	A	T	6: 58,893,827 (GRCm39)	T968S	possibly damaging	Het
Ift88	A	G	14: 57,674,736 (GRCm39)	Y69C	probably benign	Het
Incenp	G	A	19: 9,862,890 (GRCm39)	T388M	unknown	Het
Jrkl	A	G	9: 13,245,337 (GRCm39)	F108S	probably benign	Het
Khdc1a	A	G	1: 21,420,542 (GRCm39)	E54G	possibly damaging	Het
Kif6	T	A	17: 49,927,728 (GRCm39)	F58L	probably damaging	Het
Klk14	T	C	7: 43,344,342 (GRCm39)	S218P	probably damaging	Het
Kmt2e	T	C	5: 23,655,319 (GRCm39)	M19T	probably benign	Het
Llgl1	G	T	11: 60,599,380 (GRCm39)	G454C	probably damaging	Het
Lyrm4	A	G	13: 36,276,898 (GRCm39)	V33A	probably benign	Het
Mcam	C	T	9: 44,052,588 (GRCm39)	R606C	probably damaging	Het
Mgam	T	A	6: 40,733,301 (GRCm39)	M692K	probably damaging	Het
Mmp28	C	T	11: 83,333,765 (GRCm39)	R392H	probably damaging	Het
Mpdz	G	A	4: 81,210,788 (GRCm39)	T1699M	probably damaging	Het
Mrps11	T	C	7: 78,433,310 (GRCm39)		probably benign	Het
Mrtfb	A	G	16: 13,218,866 (GRCm39)	N504S	probably benign	Het
Msmo1	A	G	8: 65,180,650 (GRCm39)		probably benign	Het
Mst1	A	G	9: 107,961,403 (GRCm39)	E571G	probably benign	Het
Myh14	T	C	7: 44,265,723 (GRCm39)	E1585G	probably damaging	Het
Myrfl	A	G	10: 116,613,332 (GRCm39)	C824R	probably damaging	Het
Ncapd3	C	T	9: 26,981,168 (GRCm39)		probably benign	Het
Nlrp4a	G	GGTTCTTC	7: 26,163,622 (GRCm39)		probably null	Het
Nos1	C	T	5: 118,087,684 (GRCm39)		probably benign	Het
Notch3	T	C	17: 32,383,198 (GRCm39)	S47G	probably benign	Het
Npsr1	A	G	9: 24,221,371 (GRCm39)	Y122C	probably damaging	Het
Or10ak12	T	C	4: 118,666,435 (GRCm39)	M209V	probably benign	Het
Or1j11	C	T	2: 36,311,655 (GRCm39)	L82F	probably damaging	Het
Or5a1	G	T	19: 12,097,603 (GRCm39)	R158S	possibly damaging	Het
Or6c1b	C	T	10: 129,272,807 (GRCm39)	T42I	probably damaging	Het
Or6k2	T	A	1: 173,986,483 (GRCm39)	V48E	possibly damaging	Het
Or8b9	T	A	9: 37,766,548 (GRCm39)	L145M	possibly damaging	Het
Otog	G	T	7: 45,950,007 (GRCm39)	V2490F	probably damaging	Het
Pibf1	T	C	14: 99,350,425 (GRCm39)	V191A	probably benign	Het
Pip	A	G	6: 41,826,852 (GRCm39)	M66V	probably benign	Het
Plxna2	C	T	1: 194,449,771 (GRCm39)	R830C	probably benign	Het
Prkca	A	T	11: 107,830,346 (GRCm39)	V248E	probably benign	Het
Prmt7	T	A	8: 106,963,916 (GRCm39)	L253*	probably null	Het
Prrc2a	G	T	17: 35,372,888 (GRCm39)		probably benign	Het
Rasgrf1	A	G	9: 89,894,853 (GRCm39)	D1091G	probably benign	Het
Rbm7	C	A	9: 48,401,245 (GRCm39)	G161V	probably benign	Het
Scn1a	A	T	2: 66,152,773 (GRCm39)	I736N	probably damaging	Het
Skint6	A	G	4: 112,726,721 (GRCm39)		probably benign	Het
Slc22a2	C	T	17: 12,803,195 (GRCm39)	H10Y	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Stam2	A	G	2: 52,604,821 (GRCm39)		probably benign	Het
Stk40	T	C	4: 126,030,626 (GRCm39)	L282P	probably damaging	Het
Tas2r110	A	G	6: 132,845,331 (GRCm39)	N121D	probably damaging	Het
Tbc1d32	A	G	10: 55,893,758 (GRCm39)	Y1272H	probably damaging	Het
Thoc2l	T	C	5: 104,665,970 (GRCm39)	F164S	probably damaging	Het
Tmem131l	T	C	3: 83,836,021 (GRCm39)	D696G	probably damaging	Het
Trdmt1	T	C	2: 13,524,657 (GRCm39)	Y266C	probably damaging	Het
Trim5	G	T	7: 103,928,726 (GRCm39)	H72N	probably benign	Het
Trim5	A	C	7: 103,928,728 (GRCm39)	L71R	probably benign	Het
Twf2	T	A	9: 106,092,012 (GRCm39)		probably benign	Het
Ubap2l	T	C	3: 89,926,635 (GRCm39)	T580A	probably benign	Het
Ugt1a10	C	T	1: 88,143,982 (GRCm39)	R201C	probably damaging	Het
Unc5a	A	G	13: 55,152,285 (GRCm39)		probably benign	Het
Vmn2r85	T	C	10: 130,261,155 (GRCm39)	N394S	possibly damaging	Het
Wrn	A	T	8: 33,809,169 (GRCm39)		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
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
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'- TGGCTTTGTAGACCCTGTGTACCTC -3'
(R):5'- ACCCAGCTTCAGATGAAATGACCTG -3'

Sequencing Primer
(F):5'- ctcctgagagctgggaatg -3'
(R):5'- GCTATATCATCCCTATAGTAAGGGAC -3'

Posted On

2014-03-14