Incidental Mutation 'R5842:Slc4a7'
ID 450508
Institutional Source Beutler Lab
Gene Symbol Slc4a7
Ensembl Gene ENSMUSG00000021733
Gene Name solute carrier family 4, sodium bicarbonate cotransporter, member 7
Synonyms NBC3, NBCn1, E430014N10Rik
MMRRC Submission 043223-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.898) question?
Stock # R5842 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 7669819-7766808 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14778866 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 925 (M925K)
Ref Sequence ENSEMBL: ENSMUSP00000153323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057015] [ENSMUST00000223607] [ENSMUST00000223695] [ENSMUST00000223740] [ENSMUST00000223761] [ENSMUST00000223981] [ENSMUST00000224049] [ENSMUST00000225630] [ENSMUST00000224222] [ENSMUST00000224333] [ENSMUST00000224752] [ENSMUST00000225175] [ENSMUST00000225979] [ENSMUST00000225232] [ENSMUST00000224672] [ENSMUST00000225238] [ENSMUST00000226079]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000057015
AA Change: M925K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: M925K

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 probably damaging
Transcript: ENSMUST00000223607
AA Change: M1037K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000223695
AA Change: M938K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223740
AA Change: M931K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223761
AA Change: M1048K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223981
AA Change: M1050K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000224049
AA Change: M918K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000225630
AA Change: M912K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224222
AA Change: M1037K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224333
AA Change: M1056K

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000224752
AA Change: M1042K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000225175
AA Change: M1035K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000225979
AA Change: M932K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000225232
AA Change: M828K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000224672
AA Change: M1041K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect unknown
Transcript: ENSMUST00000224952
AA Change: M964K
Predicted Effect probably damaging
Transcript: ENSMUST00000225238
AA Change: M945K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225496
Predicted Effect probably damaging
Transcript: ENSMUST00000226079
AA Change: M925K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.3%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 G A 3: 127,474,618 (GRCm39) H462Y probably damaging Het
Atp12a T C 14: 56,615,747 (GRCm39) I503T probably damaging Het
Bmp6 T A 13: 38,530,543 (GRCm39) V212D probably damaging Het
Col7a1 A G 9: 108,794,883 (GRCm39) D1479G unknown Het
Eea1 A G 10: 95,853,986 (GRCm39) D548G probably damaging Het
Eif5a2 T C 3: 28,848,546 (GRCm39) V135A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fstl5 T G 3: 76,229,590 (GRCm39) N130K possibly damaging Het
Gatm T C 2: 122,434,108 (GRCm39) I147V probably benign Het
Jakmip1 C T 5: 37,264,612 (GRCm39) R418C probably damaging Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Matn2 A T 15: 34,399,202 (GRCm39) D363V probably damaging Het
Mov10 G A 3: 104,706,695 (GRCm39) probably benign Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Nbas T C 12: 13,319,267 (GRCm39) probably null Het
Nlgn1 A T 3: 26,187,892 (GRCm39) probably null Het
Nnt T A 13: 119,531,283 (GRCm39) I155F probably damaging Het
Or5p80 A G 7: 108,229,859 (GRCm39) Y220C probably benign Het
Pacc1 G T 1: 191,078,986 (GRCm39) C223F probably damaging Het
Parp9 A G 16: 35,763,778 (GRCm39) I19V possibly damaging Het
Pcdha11 T A 18: 37,144,337 (GRCm39) S143T possibly damaging Het
Pdzph1 T G 17: 59,281,407 (GRCm39) S292R possibly damaging Het
Pmvk T A 3: 89,374,927 (GRCm39) V108D probably damaging Het
Rc3h2 T C 2: 37,268,383 (GRCm39) T916A possibly damaging Het
Slc23a1 T A 18: 35,755,935 (GRCm39) I393F probably damaging Het
Spag17 A G 3: 99,846,566 (GRCm39) D30G possibly damaging Het
Syde2 A G 3: 145,704,775 (GRCm39) I576V probably benign Het
Tgm2 C T 2: 157,985,001 (GRCm39) R35H probably damaging Het
Tiam1 A G 16: 89,652,887 (GRCm39) V745A probably benign Het
Timeless T C 10: 128,083,328 (GRCm39) probably null Het
Trp53tg5 T C 2: 164,313,289 (GRCm39) K129E possibly damaging Het
Ttc6 T C 12: 57,783,802 (GRCm39) Y1754H probably damaging Het
Ube4b G T 4: 149,415,887 (GRCm39) T1069N probably benign Het
Ugcg C T 4: 59,219,545 (GRCm39) S294L possibly damaging Het
Vgll2 T C 10: 51,901,388 (GRCm39) L106P probably damaging Het
Vsig10l T A 7: 43,118,396 (GRCm39) V798E probably benign Het
Wdr73 A T 7: 80,541,458 (GRCm39) H361Q probably damaging Het
Xrcc3 A T 12: 111,770,964 (GRCm39) F322I possibly damaging Het
Ypel1 T C 16: 16,912,851 (GRCm39) T26A possibly damaging 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
IGL01863:Slc4a7 APN 14 14,762,430 (GRCm38) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- GAATGTTGGCCTAGTCCTTTTCAC -3'
(R):5'- CATCGTCTTCACTGAGCAGAC -3'

Sequencing Primer
(F):5'- GGCCTAGTCCTTTTCACAAAAG -3'
(R):5'- GTCTTCACTGAGCAGACATGTGAC -3'
Posted On 2016-12-20