Incidental Mutation 'IGL01863:Slc4a7'
ID 178420
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc4a7
Ensembl Gene ENSMUSG00000021733
Gene Name solute carrier family 4, sodium bicarbonate cotransporter, member 7
Synonyms NBC3, NBCn1, E430014N10Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.898) question?
Stock # IGL01863
Quality Score
Status
Chromosome 14
Chromosomal Location 7669819-7766808 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14762430 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 509 (C509S)
Ref Sequence ENSEMBL: ENSMUSP00000152984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057015] [ENSMUST00000223607] [ENSMUST00000223695] [ENSMUST00000223740] [ENSMUST00000223761] [ENSMUST00000224672] [ENSMUST00000225238] [ENSMUST00000224333] [ENSMUST00000225175] [ENSMUST00000225232] [ENSMUST00000223981] [ENSMUST00000224752] [ENSMUST00000224222] [ENSMUST00000224049] [ENSMUST00000225979] [ENSMUST00000226079] [ENSMUST00000225630]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000057015
AA Change: C489S

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: C489S

DomainStartEndE-ValueType
low complexity region 57 89 N/A INTRINSIC
Pfam:Band_3_cyto 146 413 1.4e-110 PFAM
Pfam:HCO3_cotransp 456 969 1.6e-242 PFAM
transmembrane domain 977 999 N/A INTRINSIC
coiled coil region 1021 1050 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000223607
AA Change: C601S

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000223695
AA Change: C502S

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably damaging
Transcript: ENSMUST00000223740
AA Change: C495S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000223761
AA Change: C612S

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000223771
Predicted Effect possibly damaging
Transcript: ENSMUST00000224672
AA Change: C605S

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably damaging
Transcript: ENSMUST00000225238
AA Change: C509S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000224333
AA Change: C620S

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225175
AA Change: C599S

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225232
AA Change: C476S

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000223981
AA Change: C614S

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224752
AA Change: C606S

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225496
Predicted Effect possibly damaging
Transcript: ENSMUST00000224222
AA Change: C601S

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224049
AA Change: C482S

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect unknown
Transcript: ENSMUST00000224952
AA Change: C528S
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224750
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225508
Predicted Effect probably benign
Transcript: ENSMUST00000225979
AA Change: C496S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect possibly damaging
Transcript: ENSMUST00000226079
AA Change: C489S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225630
AA Change: C476S

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a disruption at this locus display defects of the auditory and visual systems similar to those observed in patients with Ushers syndrome. Mice homozygous for a gene trap allele exhibit disruption in sodium/bicarbonate function that impacts vasodilation and hypertension. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l T A 10: 42,215,907 (GRCm39) I326F possibly damaging Het
Aimp1 T C 3: 132,377,853 (GRCm39) T171A probably benign Het
Ash1l T A 3: 88,892,813 (GRCm39) L1564* probably null Het
Atp1a1 G T 3: 101,499,205 (GRCm39) Y131* probably null Het
Celsr2 T C 3: 108,301,338 (GRCm39) E2686G probably benign Het
Cyp4f18 A G 8: 72,743,770 (GRCm39) V395A possibly damaging Het
Dnaaf11 A T 15: 66,268,823 (GRCm39) probably benign Het
Ephb2 T C 4: 136,387,088 (GRCm39) Q713R probably benign Het
Esf1 A T 2: 139,962,599 (GRCm39) M824K probably benign Het
Fat4 T C 3: 39,024,768 (GRCm39) probably benign Het
Gem A G 4: 11,705,980 (GRCm39) I23V probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Il6st A G 13: 112,640,744 (GRCm39) E779G possibly damaging Het
Lama3 T A 18: 12,552,993 (GRCm39) probably benign Het
Lipi A C 16: 75,347,114 (GRCm39) I435R probably damaging Het
Odad2 T C 18: 7,222,617 (GRCm39) T551A probably damaging Het
Omg C T 11: 79,393,050 (GRCm39) M269I probably benign Het
Optn A T 2: 5,026,298 (GRCm39) probably benign Het
Or5ae2 T C 7: 84,505,619 (GRCm39) L14P probably damaging Het
Pex1 A G 5: 3,656,066 (GRCm39) T298A probably benign Het
Rab27b T A 18: 70,122,625 (GRCm39) R111S probably damaging Het
Rhbdf1 T G 11: 32,163,484 (GRCm39) E329D probably benign Het
Slc2a13 T C 15: 91,400,695 (GRCm39) I176V probably benign Het
Slc30a1 T A 1: 191,641,196 (GRCm39) C281S probably damaging Het
Slfn9 T C 11: 82,872,151 (GRCm39) R862G probably benign Het
Tbc1d2 A G 4: 46,607,064 (GRCm39) I782T possibly damaging Het
Tent5c C T 3: 100,379,980 (GRCm39) D259N probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vps33b T C 7: 79,924,059 (GRCm39) probably null Het
Wrap73 A G 4: 154,229,790 (GRCm39) I54V probably benign Het
Other mutations in Slc4a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00974:Slc4a7 APN 14 14,760,292 (GRCm38) missense probably benign 0.18
IGL01468:Slc4a7 APN 14 14,737,480 (GRCm38) missense probably damaging 1.00
IGL03122:Slc4a7 APN 14 14,782,040 (GRCm38) splice site probably benign
R0020:Slc4a7 UTSW 14 14,796,108 (GRCm38) missense probably benign
R0403:Slc4a7 UTSW 14 14,766,808 (GRCm38) missense probably benign 0.02
R0410:Slc4a7 UTSW 14 14,738,299 (GRCm38) missense probably damaging 1.00
R0624:Slc4a7 UTSW 14 14,794,059 (GRCm38) critical splice donor site probably null
R0631:Slc4a7 UTSW 14 14,757,382 (GRCm38) missense probably damaging 1.00
R1128:Slc4a7 UTSW 14 14,733,832 (GRCm38) missense probably damaging 1.00
R1556:Slc4a7 UTSW 14 14,778,872 (GRCm38) missense probably benign 0.01
R1672:Slc4a7 UTSW 14 14,760,247 (GRCm38) missense possibly damaging 0.91
R1711:Slc4a7 UTSW 14 14,765,709 (GRCm38) missense probably benign 0.45
R1870:Slc4a7 UTSW 14 14,737,509 (GRCm38) critical splice donor site probably null
R1939:Slc4a7 UTSW 14 14,748,581 (GRCm38) missense probably damaging 1.00
R2012:Slc4a7 UTSW 14 14,733,727 (GRCm38) nonsense probably null
R2042:Slc4a7 UTSW 14 14,737,386 (GRCm38) missense probably damaging 1.00
R2064:Slc4a7 UTSW 14 14,733,773 (GRCm38) missense probably damaging 1.00
R2404:Slc4a7 UTSW 14 14,733,733 (GRCm38) missense probably damaging 1.00
R2880:Slc4a7 UTSW 14 14,773,277 (GRCm38) missense probably damaging 1.00
R3729:Slc4a7 UTSW 14 14,729,276 (GRCm38) missense probably damaging 1.00
R4368:Slc4a7 UTSW 14 14,733,775 (GRCm38) missense probably damaging 1.00
R4395:Slc4a7 UTSW 14 14,765,665 (GRCm38) missense probably damaging 1.00
R4432:Slc4a7 UTSW 14 14,757,323 (GRCm38) missense probably damaging 1.00
R4592:Slc4a7 UTSW 14 14,778,850 (GRCm38) missense probably damaging 1.00
R4705:Slc4a7 UTSW 14 14,733,856 (GRCm38) missense probably damaging 1.00
R4743:Slc4a7 UTSW 14 14,796,073 (GRCm38) splice site probably null
R4765:Slc4a7 UTSW 14 14,762,414 (GRCm38) missense probably damaging 1.00
R4831:Slc4a7 UTSW 14 14,772,699 (GRCm38) critical splice donor site probably null
R4845:Slc4a7 UTSW 14 14,733,803 (GRCm38) missense probably damaging 1.00
R4880:Slc4a7 UTSW 14 14,757,342 (GRCm38) missense probably damaging 1.00
R4948:Slc4a7 UTSW 14 14,771,283 (GRCm38) missense possibly damaging 0.68
R5348:Slc4a7 UTSW 14 14,786,310 (GRCm38) missense probably benign 0.02
R5385:Slc4a7 UTSW 14 14,773,345 (GRCm38) missense possibly damaging 0.94
R5418:Slc4a7 UTSW 14 14,760,280 (GRCm38) missense probably benign 0.25
R5480:Slc4a7 UTSW 14 14,782,138 (GRCm38) missense probably damaging 1.00
R5842:Slc4a7 UTSW 14 14,778,866 (GRCm38) missense probably damaging 1.00
R5919:Slc4a7 UTSW 14 14,791,092 (GRCm38) missense probably benign
R6063:Slc4a7 UTSW 14 14,793,964 (GRCm38) missense possibly damaging 0.60
R6065:Slc4a7 UTSW 14 14,739,836 (GRCm38) missense probably benign 0.29
R6549:Slc4a7 UTSW 14 14,748,564 (GRCm38) missense probably damaging 1.00
R6845:Slc4a7 UTSW 14 14,775,000 (GRCm38) missense probably damaging 1.00
R6870:Slc4a7 UTSW 14 14,733,846 (GRCm38) missense probably damaging 1.00
R6881:Slc4a7 UTSW 14 14,737,452 (GRCm38) missense probably benign 0.43
R6962:Slc4a7 UTSW 14 14,746,021 (GRCm38) missense probably damaging 0.99
R7099:Slc4a7 UTSW 14 14,733,750 (GRCm38) missense probably damaging 1.00
R7180:Slc4a7 UTSW 14 14,765,580 (GRCm38) missense probably damaging 1.00
R7346:Slc4a7 UTSW 14 14,775,000 (GRCm38) missense probably damaging 1.00
R7378:Slc4a7 UTSW 14 14,757,421 (GRCm38) missense probably damaging 1.00
R7646:Slc4a7 UTSW 14 14,773,348 (GRCm38) missense probably benign 0.01
R7647:Slc4a7 UTSW 14 14,773,348 (GRCm38) missense probably benign 0.01
R7648:Slc4a7 UTSW 14 14,773,348 (GRCm38) missense probably benign 0.01
R7650:Slc4a7 UTSW 14 14,773,348 (GRCm38) missense probably benign 0.01
R7857:Slc4a7 UTSW 14 14,772,624 (GRCm38) missense probably benign 0.00
R7892:Slc4a7 UTSW 14 14,773,348 (GRCm38) missense probably benign 0.01
R8124:Slc4a7 UTSW 14 14,729,211 (GRCm38) missense possibly damaging 0.92
R8225:Slc4a7 UTSW 14 14,738,224 (GRCm38) nonsense probably null
R8354:Slc4a7 UTSW 14 14,786,313 (GRCm38) missense probably damaging 1.00
R8998:Slc4a7 UTSW 14 14,775,346 (GRCm38) missense probably damaging 1.00
R9016:Slc4a7 UTSW 14 14,773,241 (GRCm38) missense probably damaging 0.99
R9043:Slc4a7 UTSW 14 14,775,048 (GRCm38) missense probably damaging 1.00
R9139:Slc4a7 UTSW 14 14,796,115 (GRCm38) missense probably damaging 0.98
R9342:Slc4a7 UTSW 14 14,772,541 (GRCm38) nonsense probably null
R9383:Slc4a7 UTSW 14 14,766,803 (GRCm38) nonsense probably null
R9568:Slc4a7 UTSW 14 14,796,073 (GRCm38) splice site probably null
R9798:Slc4a7 UTSW 14 14,782,056 (GRCm38) missense probably damaging 1.00
X0067:Slc4a7 UTSW 14 14,771,276 (GRCm38) missense possibly damaging 0.93
Posted On 2014-05-07