Mutagenetix > Incidental Mutation

Incidental Mutation 'R8671:Clcnkb'

661152

Institutional Source

Beutler Lab

Gene Symbol

Clcnkb

Ensembl Gene

ENSMUSG00000006216

Gene Name

chloride channel, voltage-sensitive Kb

Synonyms

Clcnk1l, Clck2

MMRRC Submission

068526-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141404353-141416014 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141412230 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 154 (T154S)

Ref Sequence

ENSEMBL: ENSMUSP00000006378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006378] [ENSMUST00000105788]

AlphaFold

Q9WUB6

Predicted Effect

probably damaging
Transcript: ENSMUST00000006378
AA Change: T154S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000006378
Gene: ENSMUSG00000006216
AA Change: T154S

Domain	Start	End	E-Value	Type
Pfam:Voltage_CLC	102	514	1.5e-77	PFAM
CBS	554	604	1.77e-2	SMART
Blast:CBS	629	678	1e-20	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105788
AA Change: T154S

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101414
Gene: ENSMUSG00000006216
AA Change: T154S

Domain	Start	End	E-Value	Type
Pfam:Voltage_CLC	102	514	3.6e-72	PFAM
CBS	554	604	1.77e-2	SMART
Pfam:CBS	623	676	3.3e-5	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

MGI Phenotype

FUNCTION: This gene is a member of the CLC family of voltage-gated chloride channels. The gene is located adjacent to a highly similar chloride channel gene on chromosome 4. This gene is syntenic with human CLCNKA (geneID:1187). [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	C	T	4: 73,942,929 (GRCm38)	E145K	probably damaging	Het
4930430A15Rik	T	C	2: 111,229,532 (GRCm38)		probably benign	Het
4930467E23Rik	T	A	8: 19,734,759 (GRCm38)	L203*	probably null	Het
Ambp	A	T	4: 63,150,419 (GRCm38)	Y120*	probably null	Het
Ankrd36	C	T	11: 5,629,312 (GRCm38)	A192V	probably benign	Het
Apol7e	A	T	15: 77,717,603 (GRCm38)	M134L	probably benign	Het
Atg9b	A	T	5: 24,386,109 (GRCm38)	N774K	probably benign	Het
Catsperb	T	A	12: 101,594,337 (GRCm38)	N862K	possibly damaging	Het
Ccdc7a	T	A	8: 128,920,467 (GRCm38)	D648V	probably damaging	Het
Cfap54	G	T	10: 92,955,072 (GRCm38)	P1855T	unknown	Het
Cux1	C	T	5: 136,250,600 (GRCm38)	R609H	probably damaging	Het
Eif2ak4	A	G	2: 118,422,186 (GRCm38)	D413G	possibly damaging	Het
Elp1	A	G	4: 56,771,453 (GRCm38)	L948P	probably damaging	Het
Flnc	T	C	6: 29,443,502 (GRCm38)		probably null	Het
Grm5	T	C	7: 88,116,290 (GRCm38)		probably null	Het
Hectd3	T	G	4: 116,996,581 (GRCm38)	F225V	possibly damaging	Het
Hpcal4	G	T	4: 123,189,183 (GRCm38)	M107I	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331 (GRCm38)		probably benign	Het
Larp4	C	A	15: 100,010,458 (GRCm38)	Q607K	probably benign	Het
Marchf8	A	G	6: 116,401,854 (GRCm38)	R250G	probably benign	Het
Med13	A	C	11: 86,271,097 (GRCm38)	N2135K	probably damaging	Het
Msh5	T	A	17: 35,045,933 (GRCm38)	R89*	probably null	Het
Musk	T	G	4: 58,286,051 (GRCm38)		probably benign	Het
Myo18b	T	C	5: 112,874,743 (GRCm38)	Q261R	unknown	Het
Npr1	A	T	3: 90,456,157 (GRCm38)		probably benign	Het
Nynrin	T	A	14: 55,870,442 (GRCm38)	V1002E	possibly damaging	Het
Olfr1315-ps1	T	A	2: 112,110,988 (GRCm38)	K88M	probably damaging	Het
Or2l5	T	C	16: 19,515,054 (GRCm38)	Y194C	possibly damaging	Het
Or4c103	A	T	2: 88,683,105 (GRCm38)	F209Y	probably benign	Het
Or5w15	A	T	2: 87,737,646 (GRCm38)	L226Q	probably damaging	Het
Pcare	G	T	17: 71,751,377 (GRCm38)	A435E	probably benign	Het
Pcdh9	T	C	14: 93,888,650 (GRCm38)	Y28C	probably damaging	Het
Pmpca	G	C	2: 26,395,034 (GRCm38)	E424Q	possibly damaging	Het
Prkd1	T	A	12: 50,388,408 (GRCm38)	N512I	probably benign	Het
Pwwp2b	C	T	7: 139,256,410 (GRCm38)	P589L	probably damaging	Het
Rasgrp4	G	A	7: 29,143,027 (GRCm38)	G242D	probably damaging	Het
Rcbtb1	T	G	14: 59,230,524 (GRCm38)	V480G	probably damaging	Het
Rptn	A	G	3: 93,398,194 (GRCm38)	S945G	probably benign	Het
Slc22a2	C	T	17: 12,605,976 (GRCm38)	Q242*	probably null	Het
Slfn3	T	A	11: 83,212,999 (GRCm38)	V232E	probably benign	Het
Stab1	T	A	14: 31,157,408 (GRCm38)	K705M	probably damaging	Het
Syn2	C	A	6: 115,278,167 (GRCm38)	S480*	probably null	Het
Thsd4	A	T	9: 60,394,445 (GRCm38)	L189H	probably damaging	Het
Tinagl1	T	C	4: 130,167,804 (GRCm38)	T250A	probably benign	Het
Tnc	A	T	4: 64,017,446 (GRCm38)	C418S	probably damaging	Het
Ube2q1	A	G	3: 89,776,078 (GRCm38)	E110G	probably damaging	Het
Wdfy4	G	T	14: 32,971,765 (GRCm38)		probably benign	Het
Xcl1	T	C	1: 164,931,850 (GRCm38)	M94V	probably benign	Het
Zfp369	T	C	13: 65,296,281 (GRCm38)	S413P	possibly damaging	Het
Zfp454	A	C	11: 50,873,768 (GRCm38)	I279S	possibly damaging	Het
Zfp971	A	C	2: 178,033,937 (GRCm38)	Q443P	probably damaging	Het

Other mutations in Clcnkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02430:Clcnkb	APN	4	141,409,390 (GRCm38)	missense	possibly damaging	0.85
IGL02750:Clcnkb	APN	4	141,405,362 (GRCm38)	critical splice acceptor site	probably null
IGL02894:Clcnkb	APN	4	141,407,819 (GRCm38)	missense	probably benign	0.00
R0193:Clcnkb	UTSW	4	141,412,316 (GRCm38)	missense	possibly damaging	0.60
R1427:Clcnkb	UTSW	4	141,405,309 (GRCm38)	missense	probably damaging	1.00
R1555:Clcnkb	UTSW	4	141,411,739 (GRCm38)	splice site	probably null
R1572:Clcnkb	UTSW	4	141,407,095 (GRCm38)	missense	possibly damaging	0.58
R1756:Clcnkb	UTSW	4	141,415,214 (GRCm38)	missense	possibly damaging	0.77
R1776:Clcnkb	UTSW	4	141,415,189 (GRCm38)	splice site	probably benign
R1879:Clcnkb	UTSW	4	141,407,819 (GRCm38)	missense	possibly damaging	0.95
R2149:Clcnkb	UTSW	4	141,408,017 (GRCm38)	missense	probably damaging	1.00
R2180:Clcnkb	UTSW	4	141,409,508 (GRCm38)	splice site	probably null
R2307:Clcnkb	UTSW	4	141,412,329 (GRCm38)	missense	probably damaging	1.00
R4393:Clcnkb	UTSW	4	141,412,236 (GRCm38)	missense	probably benign	0.00
R4758:Clcnkb	UTSW	4	141,407,849 (GRCm38)	missense	probably benign	0.00
R5416:Clcnkb	UTSW	4	141,413,900 (GRCm38)	missense	probably benign	0.33
R5906:Clcnkb	UTSW	4	141,412,299 (GRCm38)	missense	probably benign
R6185:Clcnkb	UTSW	4	141,414,514 (GRCm38)	missense	probably benign	0.00
R6299:Clcnkb	UTSW	4	141,410,723 (GRCm38)	missense	probably damaging	1.00
R6803:Clcnkb	UTSW	4	141,405,328 (GRCm38)	missense	probably benign
R6877:Clcnkb	UTSW	4	141,404,832 (GRCm38)	missense	probably benign	0.00
R7205:Clcnkb	UTSW	4	141,408,635 (GRCm38)	missense	probably damaging	1.00
R7330:Clcnkb	UTSW	4	141,410,612 (GRCm38)	missense	possibly damaging	0.67
R7332:Clcnkb	UTSW	4	141,413,932 (GRCm38)	missense	probably null	0.83
R7393:Clcnkb	UTSW	4	141,409,445 (GRCm38)	missense	probably benign
R7800:Clcnkb	UTSW	4	141,414,522 (GRCm38)	missense	probably benign	0.16
R7889:Clcnkb	UTSW	4	141,410,604 (GRCm38)	missense	probably benign	0.00
R8903:Clcnkb	UTSW	4	141,407,849 (GRCm38)	missense	possibly damaging	0.68
Z1177:Clcnkb	UTSW	4	141,407,951 (GRCm38)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GGAATGGCCCAGCATCAAATC -3'
(R):5'- CTGCAAGTGCTTGTTACACAGG -3'

Sequencing Primer
(F):5'- AGCATCAAATCCTTGTCCTAGC -3'
(R):5'- CTTGTTACACAGGCGCTAAAAG -3'

Posted On

2021-03-08