Incidental Mutation 'R2042:Slc4a7'
ID 225126
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 040049-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.898) question?
Stock # R2042 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 7669819-7766808 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 14737386 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 99 (V99M)
Ref Sequence ENSEMBL: ENSMUSP00000153323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057015] [ENSMUST00000223607] [ENSMUST00000223695] [ENSMUST00000223740] [ENSMUST00000223761] [ENSMUST00000223981] [ENSMUST00000225232] [ENSMUST00000224672] [ENSMUST00000225238] [ENSMUST00000224049] [ENSMUST00000224333] [ENSMUST00000225175] [ENSMUST00000225630] [ENSMUST00000224222] [ENSMUST00000224752] [ENSMUST00000226079] [ENSMUST00000225979]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000057015
AA Change: V99M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: V99M

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: V99M

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000223695
AA Change: V105M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000223740
AA Change: V105M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000223761
AA Change: V99M

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably damaging
Transcript: ENSMUST00000223981
AA Change: V99M

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect unknown
Transcript: ENSMUST00000224952
AA Change: V118M
Predicted Effect probably damaging
Transcript: ENSMUST00000225232
AA Change: V99M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000224672
AA Change: V105M

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000225238
AA Change: V99M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000224049
AA Change: V105M

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224333
AA Change: V105M

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000225175
AA Change: V99M

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000225630
AA Change: V99M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000224222
AA Change: V99M

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224752
AA Change: V104M

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225078
Predicted Effect probably damaging
Transcript: ENSMUST00000226079
AA Change: V99M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000225979
AA Change: V99M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (67/67)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T A 3: 124,210,377 (GRCm39) probably benign Het
Abca16 G A 7: 120,143,941 (GRCm39) R1653Q probably benign Het
Ahnak2 T A 12: 112,749,439 (GRCm39) Y176F probably damaging Het
Ano6 T C 15: 95,853,904 (GRCm39) probably null Het
Atr T C 9: 95,752,075 (GRCm39) L564S probably benign Het
Birc6 C G 17: 74,916,654 (GRCm39) A1774G probably damaging Het
Cacng1 C T 11: 107,595,134 (GRCm39) A148T probably damaging Het
Cd53 T A 3: 106,674,740 (GRCm39) probably null Het
Celsr2 A G 3: 108,309,811 (GRCm39) F1596S probably damaging Het
Cep120 A T 18: 53,868,814 (GRCm39) F122I possibly damaging Het
Ckm A T 7: 19,148,082 (GRCm39) H7L possibly damaging Het
Crybg2 T C 4: 133,814,844 (GRCm39) V1575A possibly damaging Het
Cspp1 A G 1: 10,182,763 (GRCm39) E712G probably damaging Het
Cyp2b23 C A 7: 26,365,533 (GRCm39) R434L probably damaging Het
D630003M21Rik A T 2: 158,057,769 (GRCm39) S570T probably damaging Het
Dmbt1 A G 7: 130,708,089 (GRCm39) I1444V probably damaging Het
Dnah8 T C 17: 30,854,632 (GRCm39) V98A probably benign Het
Dtx1 T G 5: 120,832,541 (GRCm39) N299T probably benign Het
Efr3b T A 12: 4,034,627 (GRCm39) D65V probably damaging Het
Eml4 T C 17: 83,755,607 (GRCm39) C323R probably damaging Het
Eps15 C T 4: 109,161,964 (GRCm39) T31I probably damaging Het
Fam91a1 A G 15: 58,298,443 (GRCm39) I184V probably benign Het
Fbxl8 A T 8: 105,994,856 (GRCm39) I123F probably damaging Het
Fbxw26 T G 9: 109,561,772 (GRCm39) T141P probably damaging Het
Fhip1b G T 7: 105,033,328 (GRCm39) Y629* probably null Het
Glra3 G A 8: 56,515,494 (GRCm39) D190N probably benign Het
Hspg2 T C 4: 137,295,677 (GRCm39) L4229P probably damaging Het
Ipmk C T 10: 71,199,333 (GRCm39) R65W probably damaging Het
Irs2 A G 8: 11,057,580 (GRCm39) I284T probably damaging Het
Klhl22 T C 16: 17,610,284 (GRCm39) probably benign Het
Lmcd1 T A 6: 112,292,851 (GRCm39) D234E probably benign Het
Lrrc14b T C 13: 74,511,561 (GRCm39) K173R probably benign Het
Magi1 A T 6: 93,732,026 (GRCm39) N209K probably benign Het
Mak A C 13: 41,202,912 (GRCm39) S179A possibly damaging Het
Map3k4 C A 17: 12,496,870 (GRCm39) R87L probably damaging Het
Map4k1 T C 7: 28,683,555 (GRCm39) L53P probably damaging Het
Melk T C 4: 44,309,051 (GRCm39) probably null Het
Mks1 C T 11: 87,747,494 (GRCm39) probably benign Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
N4bp2 C T 5: 65,983,964 (GRCm39) P1670S probably damaging Het
Ncf1 C G 5: 134,255,494 (GRCm39) Q132H probably benign Het
Nemp1 T C 10: 127,532,203 (GRCm39) S370P possibly damaging Het
Nt5c3b T C 11: 100,327,020 (GRCm39) H92R probably benign Het
Or12j2 T C 7: 139,915,850 (GRCm39) L25P probably damaging Het
Or4p19 G A 2: 88,242,546 (GRCm39) A152V possibly damaging Het
P4ha3 T C 7: 99,949,897 (GRCm39) probably null Het
Pcnx1 C A 12: 81,965,067 (GRCm39) H411Q probably damaging Het
Podxl A G 6: 31,500,051 (GRCm39) V473A possibly damaging Het
Prkd2 T C 7: 16,590,193 (GRCm39) S530P possibly damaging Het
Scin A G 12: 40,127,509 (GRCm39) I427T possibly damaging Het
Sgo2b T C 8: 64,381,561 (GRCm39) T424A probably benign Het
Slc22a2 T C 17: 12,818,012 (GRCm39) I196T probably benign Het
Slc47a2 C A 11: 61,228,908 (GRCm39) V90L probably benign Het
Spata31f3 C T 4: 42,874,030 (GRCm39) C46Y possibly damaging Het
Sprr2k T C 3: 92,340,763 (GRCm39) probably benign Het
Spta1 G A 1: 174,039,213 (GRCm39) M1185I probably benign Het
Tent5b T C 4: 133,213,924 (GRCm39) V265A possibly damaging Het
Uaca T C 9: 60,777,173 (GRCm39) V518A probably damaging Het
Ubr3 C T 2: 69,808,118 (GRCm39) Q1200* probably null Het
Ufm1 A G 3: 53,766,702 (GRCm39) probably benign Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp142 G A 1: 74,609,778 (GRCm39) T1236I probably benign Het
Zfp236 A G 18: 82,651,234 (GRCm39) Y845H probably damaging Het
Zfp747l1 A T 7: 126,984,641 (GRCm39) C154S possibly damaging Het
Zfp787 T C 7: 6,135,763 (GRCm39) K163E 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
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
Predicted Primers PCR Primer
(F):5'- CTTGTACATGTTGGAAGCTTGAAG -3'
(R):5'- ATCACCAACTGCATCTTGTACT -3'

Sequencing Primer
(F):5'- TCCAGGACTTCCCATGCAG -3'
(R):5'- CCAACTGCATCTTGTACTTAAAAGC -3'
Posted On 2014-08-25