Mutagenetix > Incidental Mutation

Incidental Mutation 'R6803:Clcnkb'

533430

Institutional Source

Beutler Lab

Gene Symbol

Clcnkb

Ensembl Gene

ENSMUSG00000006216

Gene Name

chloride channel, voltage-sensitive Kb

Synonyms

Clcnk1l, ClC-K2, Clcnk2, Clck2

MMRRC Submission

044916-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6803 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141131664-141143325 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141132639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 597 (T597A)

Ref Sequence

ENSEMBL: ENSMUSP00000101414 (fasta)

Gene Model

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

AlphaFold

Q9WUB6

Predicted Effect

probably benign
Transcript: ENSMUST00000006378
AA Change: T597A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000006378
Gene: ENSMUSG00000006216
AA Change: T597A

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

probably benign
Transcript: ENSMUST00000105788
AA Change: T597A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101414
Gene: ENSMUSG00000006216
AA Change: T597A

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119059
Gene: ENSMUSG00000006216
AA Change: T10A

Domain	Start	End	E-Value	Type
PDB:2PFI\|B	2	73	2e-28	PDB
Blast:CBS	28	64	8e-16	BLAST

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 94.7%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg9	A	C	9: 50,700,860 (GRCm39)	D210A	probably benign	Het
As3mt	T	G	19: 46,698,020 (GRCm39)	M120R	probably benign	Het
Baz1a	T	A	12: 54,988,340 (GRCm39)	S270C	probably null	Het
Car5a	A	C	8: 122,650,504 (GRCm39)		probably null	Het
Ccdc187	T	A	2: 26,179,791 (GRCm39)	T223S	probably benign	Het
Cel	T	C	2: 28,448,060 (GRCm39)	N322S	probably benign	Het
Chd6	T	C	2: 160,802,279 (GRCm39)	E2185G	possibly damaging	Het
Cntnap1	A	G	11: 101,068,060 (GRCm39)	Y24C	possibly damaging	Het
Cog3	A	G	14: 75,941,479 (GRCm39)	S817P	probably benign	Het
Col8a2	A	G	4: 126,205,793 (GRCm39)	Y601C	probably damaging	Het
Cpm	G	T	10: 117,512,002 (GRCm39)		probably null	Het
Cpt2	T	C	4: 107,769,861 (GRCm39)	N79S	probably damaging	Het
Dnah17	T	C	11: 118,016,198 (GRCm39)	T314A	probably benign	Het
Dnm1	C	A	2: 32,202,766 (GRCm39)	V46F	probably damaging	Het
Fat3	C	T	9: 15,908,083 (GRCm39)	V2640M	probably damaging	Het
Fbxl2	A	T	9: 113,813,617 (GRCm39)	C296S	probably damaging	Het
Fcgbp	A	G	7: 27,802,637 (GRCm39)	T1522A	probably benign	Het
Foxl2	A	C	9: 98,837,985 (GRCm39)	K91T	probably damaging	Het
Hdac11	G	T	6: 91,143,247 (GRCm39)	R131L	probably damaging	Het
Ipo11	T	C	13: 106,993,766 (GRCm39)	I723V	probably benign	Het
Klhl33	A	G	14: 51,134,192 (GRCm39)	L150P	probably damaging	Het
Klk1b11	A	G	7: 43,647,261 (GRCm39)	H65R	probably damaging	Het
Larp7	T	C	3: 127,330,685 (GRCm39)		probably null	Het
Ldlrad3	T	C	2: 101,943,892 (GRCm39)	D60G	possibly damaging	Het
Mlip	A	T	9: 77,097,663 (GRCm39)	H177Q	probably damaging	Het
Mrnip	A	G	11: 50,090,730 (GRCm39)	D298G	probably benign	Het
Npas2	A	C	1: 39,375,130 (GRCm39)	S483R	probably benign	Het
Nrg3	C	A	14: 38,733,957 (GRCm39)	E310*	probably null	Het
Omg	T	A	11: 79,393,094 (GRCm39)	T255S	possibly damaging	Het
Or2y12	T	A	11: 49,426,432 (GRCm39)	L140H	probably damaging	Het
Or56b1b	G	T	7: 108,164,620 (GRCm39)	D127E	probably damaging	Het
Plekhg6	T	C	6: 125,340,626 (GRCm39)	D578G	probably damaging	Het
Pygo1	A	G	9: 72,850,267 (GRCm39)	K39E	probably damaging	Het
Rell2	A	G	18: 38,089,994 (GRCm39)	D66G	probably damaging	Het
Samd9l	A	T	6: 3,375,446 (GRCm39)	I605K	probably damaging	Het
Sema6d	T	C	2: 124,505,970 (GRCm39)	S593P	probably damaging	Het
Sf3b3	A	G	8: 111,552,210 (GRCm39)	V545A	probably benign	Het
Speer4f1	T	A	5: 17,684,388 (GRCm39)		probably null	Het
Spem1	T	C	11: 69,711,974 (GRCm39)	E230G	possibly damaging	Het
Sphkap	A	G	1: 83,258,231 (GRCm39)	F171L	probably damaging	Het
Tbc1d13	T	C	2: 30,025,522 (GRCm39)		probably benign	Het
Tmem222	A	T	4: 132,994,154 (GRCm39)	N206K	probably benign	Het
Trnau1ap	C	T	4: 132,049,081 (GRCm39)	V41M	probably damaging	Het
Ttn	C	T	2: 76,769,387 (GRCm39)		probably null	Het
Ubr3	T	C	2: 69,766,368 (GRCm39)		probably null	Het
Uox	T	G	3: 146,318,264 (GRCm39)	V55G	possibly damaging	Het
Vmn2r24	A	T	6: 123,755,960 (GRCm39)	I11F	possibly damaging	Het
Wasf2	T	C	4: 132,922,220 (GRCm39)		probably null	Het
Wdr97	A	G	15: 76,240,776 (GRCm39)	Y488C	probably damaging	Het
Zbtb4	T	C	11: 69,669,454 (GRCm39)	S726P	possibly damaging	Het
Zfp534	C	T	4: 147,758,926 (GRCm39)	C581Y	probably damaging	Het
Zfp551	A	T	7: 12,151,108 (GRCm39)	C100*	probably null	Het

Other mutations in Clcnkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02430:Clcnkb	APN	4	141,136,701 (GRCm39)	missense	possibly damaging	0.85
IGL02750:Clcnkb	APN	4	141,132,673 (GRCm39)	critical splice acceptor site	probably null
IGL02894:Clcnkb	APN	4	141,135,130 (GRCm39)	missense	probably benign	0.00
R0193:Clcnkb	UTSW	4	141,139,627 (GRCm39)	missense	possibly damaging	0.60
R1427:Clcnkb	UTSW	4	141,132,620 (GRCm39)	missense	probably damaging	1.00
R1555:Clcnkb	UTSW	4	141,139,050 (GRCm39)	splice site	probably null
R1572:Clcnkb	UTSW	4	141,134,406 (GRCm39)	missense	possibly damaging	0.58
R1756:Clcnkb	UTSW	4	141,142,525 (GRCm39)	missense	possibly damaging	0.77
R1776:Clcnkb	UTSW	4	141,142,500 (GRCm39)	splice site	probably benign
R1879:Clcnkb	UTSW	4	141,135,130 (GRCm39)	missense	possibly damaging	0.95
R2149:Clcnkb	UTSW	4	141,135,328 (GRCm39)	missense	probably damaging	1.00
R2180:Clcnkb	UTSW	4	141,136,819 (GRCm39)	splice site	probably null
R2307:Clcnkb	UTSW	4	141,139,640 (GRCm39)	missense	probably damaging	1.00
R4393:Clcnkb	UTSW	4	141,139,547 (GRCm39)	missense	probably benign	0.00
R4758:Clcnkb	UTSW	4	141,135,160 (GRCm39)	missense	probably benign	0.00
R5416:Clcnkb	UTSW	4	141,141,211 (GRCm39)	missense	probably benign	0.33
R5906:Clcnkb	UTSW	4	141,139,610 (GRCm39)	missense	probably benign
R6185:Clcnkb	UTSW	4	141,141,825 (GRCm39)	missense	probably benign	0.00
R6299:Clcnkb	UTSW	4	141,138,034 (GRCm39)	missense	probably damaging	1.00
R6877:Clcnkb	UTSW	4	141,132,143 (GRCm39)	missense	probably benign	0.00
R7205:Clcnkb	UTSW	4	141,135,946 (GRCm39)	missense	probably damaging	1.00
R7330:Clcnkb	UTSW	4	141,137,923 (GRCm39)	missense	possibly damaging	0.67
R7332:Clcnkb	UTSW	4	141,141,243 (GRCm39)	missense	probably null	0.83
R7393:Clcnkb	UTSW	4	141,136,756 (GRCm39)	missense	probably benign
R7800:Clcnkb	UTSW	4	141,141,833 (GRCm39)	missense	probably benign	0.16
R7889:Clcnkb	UTSW	4	141,137,915 (GRCm39)	missense	probably benign	0.00
R8671:Clcnkb	UTSW	4	141,139,541 (GRCm39)	missense	probably damaging	1.00
R8903:Clcnkb	UTSW	4	141,135,160 (GRCm39)	missense	possibly damaging	0.68
Z1177:Clcnkb	UTSW	4	141,135,262 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGCCATTAGCCAAGATATCCTGG -3'
(R):5'- TCAGCTGGCATGTCATTATGG -3'

Sequencing Primer
(F):5'- GCAAAGGACAATTGGGACCTG -3'
(R):5'- CTGGGTGGTAAGAATTCTAACAGATC -3'

Posted On

2018-09-12