Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02802:Bsnd'

392077

Institutional Source

Beutler Lab

Gene Symbol

Bsnd

Ensembl Gene

ENSMUSG00000025418

Gene Name

barttin CLCNK type accessory beta subunit

Synonyms

Bartter syndrome, infantile, with sensorineural deafness (Barttin)

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL02802 (G1)

Quality Score

167

Status

Validated

Chromosome

Chromosomal Location

106340653-106349440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106349231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 3 (D3V)

Ref Sequence

ENSEMBL: ENSMUSP00000049563 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054472]

AlphaFold

Q8VIM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000054472
AA Change: D3V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000049563
Gene: ENSMUSG00000025418
AA Change: D3V

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:Barttin	27	241	5.2e-110	PFAM
low complexity region	273	280	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe dehydration and postnatal lethality. Mice homozygous for a cre-activated conditional allele exhibit hearing loss with outer hair cell and stria vascularis degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	C	1: 130,671,130 (GRCm39)	T451P	probably benign	Het
Actbl2	A	G	13: 111,392,310 (GRCm39)	E215G	probably damaging	Het
Adh6b	A	G	3: 138,058,545 (GRCm39)	T198A	possibly damaging	Het
Bicd2	A	G	13: 49,531,804 (GRCm39)	K349E	probably damaging	Het
Cd83	T	A	13: 43,953,147 (GRCm39)	L142Q	probably null	Het
Cdh20	A	G	1: 110,065,655 (GRCm39)	E643G	probably damaging	Het
Ces1b	T	G	8: 93,783,594 (GRCm39)	E542A	possibly damaging	Het
Cfhr2	A	G	1: 139,738,762 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,769,186 (GRCm39)	D471G	probably damaging	Het
Cntn5	C	A	9: 10,048,683 (GRCm39)		probably null	Het
Cntnap2	A	T	6: 46,147,179 (GRCm39)	D475V	probably damaging	Het
Cntnap5c	T	C	17: 58,612,679 (GRCm39)	F906S	probably benign	Het
Cobll1	A	T	2: 64,928,663 (GRCm39)	S888T	probably damaging	Het
Csf2rb	G	A	15: 78,223,103 (GRCm39)	R105Q	probably benign	Het
Ctnnd1	C	A	2: 84,454,806 (GRCm39)	M1I	probably null	Het
Cxxc1	C	T	18: 74,352,481 (GRCm39)	Q354*	probably null	Het
Dnhd1	A	G	7: 105,304,930 (GRCm39)	D324G	possibly damaging	Het
Donson	T	C	16: 91,478,196 (GRCm39)	D435G	possibly damaging	Het
Ephb1	T	C	9: 101,887,218 (GRCm39)	K474E	possibly damaging	Het
Erbin	A	G	13: 104,004,638 (GRCm39)	L130P	probably damaging	Het
Fam221a	C	T	6: 49,355,411 (GRCm39)	T171I	probably damaging	Het
Farp2	A	G	1: 93,456,332 (GRCm39)	E5G	probably damaging	Het
Fblim1	A	G	4: 141,317,431 (GRCm39)	S85P	possibly damaging	Het
Fhl2	A	T	1: 43,162,761 (GRCm39)	C251*	probably null	Het
Glis2	T	C	16: 4,429,735 (GRCm39)		probably null	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gm10717	C	T	9: 3,031,999 (GRCm39)	P127S	probably benign	Het
Heatr6	T	C	11: 83,651,762 (GRCm39)	L246P	probably damaging	Het
Igkv5-39	G	A	6: 69,877,457 (GRCm39)	P100S	probably benign	Het
Jup	T	C	11: 100,269,204 (GRCm39)	D403G	probably benign	Het
Kank1	T	C	19: 25,388,963 (GRCm39)	Y879H	probably damaging	Het
Kcna3	G	A	3: 106,944,369 (GRCm39)	E211K	probably damaging	Het
Klc3	A	T	7: 19,129,049 (GRCm39)	I440N	possibly damaging	Het
Mmp1b	T	C	9: 7,384,709 (GRCm39)	T280A	probably benign	Het
Nat3	A	T	8: 68,000,160 (GRCm39)	Q13L	probably benign	Het
Nckap1l	A	G	15: 103,372,963 (GRCm39)	N272S	probably benign	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Nsd3	T	C	8: 26,130,922 (GRCm39)	S96P	probably damaging	Het
Ntaq1	A	G	15: 58,011,833 (GRCm39)	S65G	probably benign	Het
Nudt16l1	C	T	16: 4,757,131 (GRCm39)	R43C	probably damaging	Het
Obscn	T	A	11: 58,891,310 (GRCm39)	Q7074L	unknown	Het
Or4p20	A	G	2: 88,253,832 (GRCm39)	V179A	probably benign	Het
Or5m12	A	G	2: 85,734,733 (GRCm39)	S222P	probably damaging	Het
Or5p78	A	T	7: 108,211,669 (GRCm39)	I52F	probably damaging	Het
Or6c206	T	A	10: 129,097,136 (GRCm39)		probably null	Het
Or8b37	T	G	9: 37,959,345 (GRCm39)	Y276D	probably damaging	Het
Or8k30	T	A	2: 86,339,290 (GRCm39)	N162K	probably benign	Het
P4htm	C	T	9: 108,460,055 (GRCm39)	D240N	probably benign	Het
Plekhm2	A	T	4: 141,369,835 (GRCm39)		probably benign	Het
Plppr5	T	C	3: 117,456,228 (GRCm39)	S250P	probably damaging	Het
Pmis2	T	C	7: 30,370,919 (GRCm39)	K12E	probably benign	Het
Ppox	A	T	1: 171,105,066 (GRCm39)	L374*	probably null	Het
Rcc1	C	T	4: 132,065,067 (GRCm39)	R139H	probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Tdo2	A	G	3: 81,883,004 (GRCm39)		probably benign	Het
Tent2	A	T	13: 93,285,449 (GRCm39)	N436K	probably damaging	Het
Thbs2	A	G	17: 14,904,389 (GRCm39)	I326T	probably benign	Het
Thrap3	T	C	4: 126,059,157 (GRCm39)		probably benign	Het
Ttc6	A	T	12: 57,622,654 (GRCm39)	M18L	probably benign	Het
Ttn	C	T	2: 76,604,924 (GRCm39)	V18337I	probably damaging	Het
Txndc2	A	G	17: 65,946,601 (GRCm39)	S34P	possibly damaging	Het
Vps72	T	A	3: 95,026,545 (GRCm39)	C163*	probably null	Het
Zfp831	T	A	2: 174,486,945 (GRCm39)	I540N	possibly damaging	Het

Other mutations in Bsnd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03220:Bsnd	APN	4	106,343,962 (GRCm39)	missense	possibly damaging	0.58
R1327:Bsnd	UTSW	4	106,343,809 (GRCm39)	missense	probably benign	0.08
R1869:Bsnd	UTSW	4	106,343,833 (GRCm39)	missense	probably benign	0.03
R1912:Bsnd	UTSW	4	106,345,227 (GRCm39)	nonsense	probably null
R4294:Bsnd	UTSW	4	106,342,355 (GRCm39)	missense	probably benign	0.01
R4411:Bsnd	UTSW	4	106,343,868 (GRCm39)	missense	probably benign
R5241:Bsnd	UTSW	4	106,345,182 (GRCm39)	missense	probably benign	0.21
R5733:Bsnd	UTSW	4	106,345,198 (GRCm39)	missense	probably benign	0.08
R6274:Bsnd	UTSW	4	106,343,832 (GRCm39)	missense	probably damaging	0.96
R6483:Bsnd	UTSW	4	106,345,212 (GRCm39)	missense	probably damaging	0.99
R7153:Bsnd	UTSW	4	106,349,230 (GRCm39)	missense	probably benign	0.09
R7184:Bsnd	UTSW	4	106,349,109 (GRCm39)	missense	probably damaging	1.00
X0023:Bsnd	UTSW	4	106,342,614 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATAGCATTGGCACATGC -3'
(R):5'- AAAGTTAGATGGCTGGGACCTTG -3'

Sequencing Primer
(F):5'- ATTGGCACATGCTCCAGATG -3'
(R):5'- ACTGAAGCGTGTCACCTG -3'

Posted On

2016-06-09