Incidental Mutation 'R4294:Bsnd'
ID 323207
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 041083-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R4294 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 106340653-106349440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 106342355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 271 (R271H)
Ref Sequence ENSEMBL: ENSMUSP00000049563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054472]
AlphaFold Q8VIM4
Predicted Effect probably benign
Transcript: ENSMUST00000054472
AA Change: R271H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000049563
Gene: ENSMUSG00000025418
AA Change: R271H

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (44/45)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik A T 19: 21,576,113 (GRCm39) probably null Het
Abca3 A G 17: 24,619,543 (GRCm39) I960M possibly damaging Het
Bivm A T 1: 44,177,793 (GRCm39) R364S probably damaging Het
Cckar A G 5: 53,863,839 (GRCm39) S41P probably benign Het
Clip2 A C 5: 134,521,167 (GRCm39) V957G probably benign Het
Cyp2c55 A T 19: 39,000,235 (GRCm39) I145F probably damaging Het
Cyp3a11 A T 5: 145,806,005 (GRCm39) S121T probably benign Het
Dlc1 A G 8: 37,051,907 (GRCm39) V608A possibly damaging Het
Dlg3 A T X: 99,840,288 (GRCm39) probably benign Het
Dock3 T A 9: 106,807,242 (GRCm39) R1362W probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gimap8 A T 6: 48,635,891 (GRCm39) H552L probably benign Het
Gpr151 T C 18: 42,711,602 (GRCm39) T359A probably benign Het
Gucy1a1 A T 3: 82,002,066 (GRCm39) F671Y possibly damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Kif18a T C 2: 109,123,398 (GRCm39) V224A probably benign Het
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Magel2 T G 7: 62,028,515 (GRCm39) V473G possibly damaging Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Nat8f1 T C 6: 85,887,637 (GRCm39) T108A probably benign Het
Nphp3 T A 9: 103,899,916 (GRCm39) L502Q probably damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Otud7a A G 7: 63,346,939 (GRCm39) D171G probably damaging Het
Pcdhb5 T A 18: 37,455,734 (GRCm39) S705T possibly damaging Het
Phf14 C T 6: 11,987,096 (GRCm39) P559S probably damaging Het
Rpl27-ps3 T A 18: 6,332,607 (GRCm39) probably null Het
Sec16a A G 2: 26,312,167 (GRCm39) Y1998H probably benign Het
Setd5 AT ATT 6: 113,088,281 (GRCm39) probably benign Het
Sgsm1 A G 5: 113,433,270 (GRCm39) Y182H probably damaging Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Spata13 T A 14: 60,947,004 (GRCm39) M684K probably damaging Het
Srsf6 T C 2: 162,776,636 (GRCm39) probably benign Het
Thrb C T 14: 18,011,145 (GRCm38) Q174* probably null Het
Ticam1 A G 17: 56,578,339 (GRCm39) I252T probably benign Het
Tmem237 A G 1: 59,158,995 (GRCm39) probably benign Het
Trpv1 C T 11: 73,131,290 (GRCm39) A276V probably damaging Het
Vmn1r192 T A 13: 22,371,465 (GRCm39) I252F probably damaging Het
Vmn2r74 T A 7: 85,606,624 (GRCm39) I241F probably benign Het
Other mutations in Bsnd
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TTGAGGGGTCACATGAAGAC -3'
(R):5'- CTCATTCCATGACGACCTGGAC -3'

Sequencing Primer
(F):5'- TCACATGAAGACAGCAGTGC -3'
(R):5'- ATGACGACCTGGACGTGGG -3'
Posted On 2015-06-20