Mutagenetix > Incidental Mutation

Incidental Mutation 'R4411:Bsnd'

327901

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)

MMRRC Submission

041693-MU

Accession Numbers

Essential gene?

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

Stock #

R4411 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106340653-106349440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106343868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 146 (R146H)

Ref Sequence

ENSEMBL: ENSMUSP00000049563 (fasta)

Gene Model

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

AlphaFold

Q8VIM4

Predicted Effect

probably benign
Transcript: ENSMUST00000054472
AA Change: R146H

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

SMART Domains

Protein: ENSMUSP00000049563
Gene: ENSMUSG00000025418
AA Change: R146H

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

95% (62/65)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,042,781 (GRCm39)	I423V	probably benign	Het
Abl2	T	C	1: 156,457,652 (GRCm39)	V306A	possibly damaging	Het
Adcy4	T	C	14: 56,006,900 (GRCm39)	Y1006C	probably damaging	Het
Adprhl1	T	C	8: 13,296,114 (GRCm39)	K144E	probably benign	Het
Arid5b	T	C	10: 67,932,519 (GRCm39)	R885G	probably damaging	Het
Atp9a	A	T	2: 168,503,853 (GRCm39)	V613E	probably damaging	Het
Atxn7l1	G	T	12: 33,244,886 (GRCm39)		probably benign	Het
Brd8	C	A	18: 34,756,497 (GRCm39)		probably benign	Het
C4b	C	T	17: 34,947,838 (GRCm39)	R1659H	probably damaging	Het
Duox1	G	A	2: 122,168,115 (GRCm39)	R1080H	probably benign	Het
Eml2	T	C	7: 18,916,326 (GRCm39)		probably null	Het
Fbxo44	G	A	4: 148,238,065 (GRCm39)	R221C	probably damaging	Het
Frem1	T	C	4: 82,881,481 (GRCm39)	D166G	probably damaging	Het
Galnt5	T	C	2: 57,889,207 (GRCm39)	L269P	probably benign	Het
Gigyf2	A	G	1: 87,364,582 (GRCm39)	E954G	probably damaging	Het
Gpc6	T	C	14: 118,188,590 (GRCm39)	V408A	probably benign	Het
Hspg2	A	G	4: 137,289,535 (GRCm39)	T3832A	probably benign	Het
Ift88	A	G	14: 57,715,436 (GRCm39)	N493S	probably damaging	Het
Ighv1-76	A	T	12: 115,811,731 (GRCm39)	C41S	probably damaging	Het
Igkv12-46	G	A	6: 69,741,930 (GRCm39)	T16I	probably benign	Het
Igkv3-9	G	T	6: 70,565,547 (GRCm39)	V49F	probably damaging	Het
Isoc2b	A	T	7: 4,852,433 (GRCm39)		probably benign	Het
Lcp2	T	A	11: 34,037,173 (GRCm39)		probably benign	Het
Lmntd1	A	G	6: 145,373,003 (GRCm39)		probably null	Het
Mdm2	A	T	10: 117,545,694 (GRCm39)		probably null	Het
Mrgprx3-ps	T	C	7: 46,959,746 (GRCm39)		noncoding transcript	Het
Msh2	T	C	17: 88,025,032 (GRCm39)	S637P	probably damaging	Het
Myo5b	T	C	18: 74,831,345 (GRCm39)	F765S	possibly damaging	Het
Nav2	T	A	7: 49,047,857 (GRCm39)	N91K	probably benign	Het
Ndor1	G	A	2: 25,138,492 (GRCm39)	P363S	probably benign	Het
Npr3	G	C	15: 11,905,235 (GRCm39)	T164R	probably benign	Het
Pcdhb5	T	C	18: 37,455,050 (GRCm39)	S477P	possibly damaging	Het
Pde3b	GTGATGATGATGATGATGATGATGATG	GTGATGATGATGATGATGATGATG	7: 114,133,984 (GRCm39)		probably benign	Het
Pnpla7	G	A	2: 24,941,716 (GRCm39)	W13*	probably null	Het
Pnpla8	T	C	12: 44,330,225 (GRCm39)	V41A	probably benign	Het
Prdm2	A	T	4: 142,860,240 (GRCm39)	S1017T	probably benign	Het
Prdm5	T	A	6: 65,878,771 (GRCm39)	Y108*	probably null	Het
Rab34	T	A	11: 78,079,592 (GRCm39)		probably null	Het
Skic3	A	G	13: 76,275,623 (GRCm39)	E410G	possibly damaging	Het
Smpd5	G	T	15: 76,179,112 (GRCm39)	R160L	possibly damaging	Het
Spmip10	A	G	18: 56,727,720 (GRCm39)	T65A	probably benign	Het
Srrm2	A	G	17: 24,029,442 (GRCm39)		probably benign	Het
Taf5	T	A	19: 47,059,453 (GRCm39)	V199D	probably damaging	Het
Tas2r114	C	T	6: 131,666,585 (GRCm39)	V148I	probably benign	Het
Tas2r136	C	A	6: 132,754,972 (GRCm39)	V52L	probably damaging	Het
Tnfrsf25	G	A	4: 152,202,843 (GRCm39)		probably benign	Het
Tpd52l1	T	C	10: 31,255,315 (GRCm39)	T11A	possibly damaging	Het
Trmt1l	G	A	1: 151,327,905 (GRCm39)	E472K	probably benign	Het
Ttc17	T	C	2: 94,173,098 (GRCm39)	K766E	probably damaging	Het
Ttn	C	T	2: 76,560,633 (GRCm39)	R29256Q	probably damaging	Het
Ttn	T	C	2: 76,572,414 (GRCm39)	I26160V	probably damaging	Het
Ubxn6	A	T	17: 56,376,303 (GRCm39)	V311E	probably damaging	Het
Usp2	T	C	9: 44,002,360 (GRCm39)	S351P	probably damaging	Het
Usp7	C	A	16: 8,526,778 (GRCm39)	D187Y	probably damaging	Het
Vmn1r115	C	T	7: 20,578,207 (GRCm39)	R235K	probably benign	Het
Vmn2r50	A	C	7: 9,784,235 (GRCm39)	F80V	probably damaging	Het
Vmn2r58	T	A	7: 41,511,360 (GRCm39)	K481M	possibly damaging	Het
Vmn2r86	A	G	10: 130,288,469 (GRCm39)	I344T	possibly damaging	Het
Zfp455	A	T	13: 67,355,389 (GRCm39)	N219I	probably 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
IGL02802:Bsnd	UTSW	4	106,349,231 (GRCm39)	missense	probably damaging	1.00
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
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'- AGCCTCACTTGTCTGTGACC -3'
(R):5'- GAAACTCATGTCTGCGTGC -3'

Sequencing Primer
(F):5'- TGTCTGTGACCCCTGCTG -3'
(R):5'- ACTGTATGTCGGACCCAGC -3'

Posted On

2015-07-07