Incidental Mutation 'IGL03220:Bsnd'
ID 413632
Institutional Source Australian Phenomics Network (link to record)
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: 0.058) question?
Stock # IGL03220
Quality Score
Status
Chromosome 4
Chromosomal Location 106340653-106349440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 106343962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 115 (Q115K)
Ref Sequence ENSEMBL: ENSMUSP00000049563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054472]
AlphaFold Q8VIM4
Predicted Effect possibly damaging
Transcript: ENSMUST00000054472
AA Change: Q115K

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000049563
Gene: ENSMUSG00000025418
AA Change: Q115K

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
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 T A 1: 179,615,767 (GRCm39) E368D probably benign Het
Arid2 A T 15: 96,259,653 (GRCm39) H271L probably damaging Het
Ceacam5 T A 7: 17,494,653 (GRCm39) I887N probably damaging Het
Clrn2 T C 5: 45,621,070 (GRCm39) F155L probably damaging Het
Col12a1 A G 9: 79,606,765 (GRCm39) S553P probably damaging Het
Crnn C T 3: 93,056,674 (GRCm39) H487Y possibly damaging Het
Ddi2 T C 4: 141,435,767 (GRCm39) N90S probably benign Het
Deup1 T A 9: 15,503,707 (GRCm39) I285L probably benign Het
Dlgap4 T C 2: 156,546,546 (GRCm39) S405P probably damaging Het
Dnah11 A G 12: 118,069,720 (GRCm39) F1560L probably benign Het
Dock1 T C 7: 134,710,251 (GRCm39) probably null Het
Dst C A 1: 34,225,076 (GRCm39) Q1161K probably damaging Het
Dus1l G T 11: 120,683,185 (GRCm39) H280N probably damaging Het
Gm21985 C A 2: 112,187,829 (GRCm39) H964N possibly damaging Het
Gzmd A T 14: 56,367,886 (GRCm39) V129E probably damaging Het
Hmcn2 T A 2: 31,236,633 (GRCm39) F392Y possibly damaging Het
Kdelr2 T A 5: 143,403,870 (GRCm39) Y86* probably null Het
Kif26b T G 1: 178,692,434 (GRCm39) C458W probably damaging Het
Lhpp G A 7: 132,252,020 (GRCm39) V220I probably benign Het
Nfya T C 17: 48,707,521 (GRCm39) N7S possibly damaging Het
Or5ar1 G T 2: 85,671,326 (GRCm39) Q270K possibly damaging Het
Or5b12b C T 19: 12,861,815 (GRCm39) T190I possibly damaging Het
Or5b24 A C 19: 12,912,858 (GRCm39) Y252S probably damaging Het
Prkg1 A T 19: 30,546,637 (GRCm39) probably benign Het
Prpf6 A G 2: 181,274,672 (GRCm39) E383G probably damaging Het
Ptpn21 A T 12: 98,644,882 (GRCm39) V1153E probably damaging Het
Ryr1 A T 7: 28,759,280 (GRCm39) I3330N probably damaging Het
Sgk1 A G 10: 21,873,290 (GRCm39) D252G probably null Het
Shcbp1l T C 1: 153,308,911 (GRCm39) probably benign Het
Shoc1 G A 4: 59,082,378 (GRCm39) Q417* probably null Het
Skida1 T C 2: 18,052,972 (GRCm39) D60G probably damaging Het
Slc9a5 T A 8: 106,094,652 (GRCm39) C748S probably benign Het
Smc4 A T 3: 68,916,875 (GRCm39) Y163F possibly damaging Het
Spdya T C 17: 71,885,286 (GRCm39) S247P possibly damaging Het
Sptb T C 12: 76,659,684 (GRCm39) D1072G probably benign Het
St7l A T 3: 104,782,139 (GRCm39) probably benign Het
Trmt1l T C 1: 151,316,692 (GRCm39) probably benign Het
Tspan4 A G 7: 141,071,712 (GRCm39) Y153C probably damaging Het
Ulk4 A T 9: 120,974,402 (GRCm39) N944K probably damaging Het
Unc80 T C 1: 66,544,097 (GRCm39) C407R probably damaging Het
Zfp563 T G 17: 33,323,661 (GRCm39) S85R probably benign Het
Zp2 A C 7: 119,736,450 (GRCm39) L331R possibly damaging Het
Other mutations in Bsnd
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2016-08-02