Incidental Mutation 'R6483:Bsnd'
ID 517197
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 044615-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6483 (G1)
Quality Score 208.009
Status Validated
Chromosome 4
Chromosomal Location 106340653-106349440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106345212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 78 (L78Q)
Ref Sequence ENSEMBL: ENSMUSP00000049563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054472]
AlphaFold Q8VIM4
Predicted Effect probably damaging
Transcript: ENSMUST00000054472
AA Change: L78Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000049563
Gene: ENSMUSG00000025418
AA Change: L78Q

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 100% (46/46)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T G 14: 29,700,538 (GRCm39) L39R possibly damaging Het
Amer3 T C 1: 34,626,771 (GRCm39) S337P probably damaging Het
Arhgef10l A T 4: 140,344,226 (GRCm39) I12K probably damaging Het
Atp2b4 A G 1: 133,657,618 (GRCm39) V624A possibly damaging Het
BB014433 A T 8: 15,092,208 (GRCm39) L215Q probably benign Het
Bod1l A G 5: 41,978,425 (GRCm39) V963A probably benign Het
Bpifa6 T C 2: 153,832,354 (GRCm39) L287S probably benign Het
C1qtnf3 T C 15: 10,958,156 (GRCm39) probably null Het
Ccdc180 T G 4: 45,921,950 (GRCm39) V1008G probably benign Het
Ccl1 T G 11: 82,068,860 (GRCm39) D59A possibly damaging Het
Cfap58 T C 19: 47,971,891 (GRCm39) I607T probably benign Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Cntnap4 C T 8: 113,484,105 (GRCm39) P386L possibly damaging Het
Col1a1 G A 11: 94,833,444 (GRCm39) probably null Het
Dnajc13 A T 9: 104,085,003 (GRCm39) D798E probably damaging Het
Eml6 T G 11: 29,699,875 (GRCm39) I1754L probably benign Het
Ercc8 T A 13: 108,320,344 (GRCm39) V310D probably damaging Het
Fat2 G A 11: 55,187,171 (GRCm39) T1225I probably damaging Het
Gba1 A G 3: 89,115,910 (GRCm39) Y510C probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm43302 T A 5: 105,423,726 (GRCm39) M416L probably benign Het
Grxcr2 A T 18: 42,124,955 (GRCm39) V151E probably benign Het
Gtf2ird2 A G 5: 134,240,066 (GRCm39) N296S probably benign Het
Herc1 T A 9: 66,355,811 (GRCm39) I2354N possibly damaging Het
Inhbc G A 10: 127,193,309 (GRCm39) R236* probably null Het
Itpr2 T C 6: 146,013,975 (GRCm39) D2607G possibly damaging Het
Kcnh7 T A 2: 62,676,118 (GRCm39) D298V probably benign Het
Klrb1c A G 6: 128,761,148 (GRCm39) S160P probably benign Het
Mrgpra2a C G 7: 47,076,437 (GRCm39) E274Q probably benign Het
Muc5ac T A 7: 141,356,591 (GRCm39) F1059L probably benign Het
Naglu T C 11: 100,962,007 (GRCm39) I160T probably damaging Het
Nasp A T 4: 116,476,145 (GRCm39) L47Q probably damaging Het
Opa1 C T 16: 29,447,525 (GRCm39) T873I possibly damaging Het
Or10a3n C T 7: 108,493,318 (GRCm39) V99M possibly damaging Het
Or52x1 T C 7: 104,853,500 (GRCm39) T17A probably benign Het
Or8u10 C A 2: 85,915,784 (GRCm39) M112I probably benign Het
Pttg1 A G 11: 43,315,671 (GRCm39) F48L probably damaging Het
Rho T C 6: 115,909,218 (GRCm39) F85L possibly damaging Het
Rnasel T C 1: 153,630,432 (GRCm39) V316A probably benign Het
Slc36a3 A G 11: 55,026,089 (GRCm39) I243T probably benign Het
Tada2b G A 5: 36,634,029 (GRCm39) T183M possibly damaging Het
Tbc1d22a A G 15: 86,185,768 (GRCm39) M286V possibly damaging Het
Trim69 G T 2: 121,998,081 (GRCm39) E18* probably null Het
Ttn T C 2: 76,772,394 (GRCm39) T2503A possibly damaging Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Zfp654 T A 16: 64,612,310 (GRCm39) N192I possibly damaging Het
Zfp809 G A 9: 22,147,540 (GRCm39) R58H 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
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
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'- GTTCTCAGAAAATTCAAGGCAAGG -3'
(R):5'- TCAAGCAGAGACCCTTCCAG -3'

Sequencing Primer
(F):5'- TTCAAGGCAAGGAGGAAACTG -3'
(R):5'- AGGTCCCCCTTCCGCTG -3'
Posted On 2018-05-21