Incidental Mutation 'R5418:Slc4a7'
ID 427875
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 042986-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.898) question?
Stock # R5418 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 7669819-7766808 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14760280 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 572 (S572T)
Ref Sequence ENSEMBL: ENSMUSP00000153470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057015] [ENSMUST00000223607] [ENSMUST00000223695] [ENSMUST00000223740] [ENSMUST00000223761] [ENSMUST00000224752] [ENSMUST00000225238] [ENSMUST00000223981] [ENSMUST00000224049] [ENSMUST00000224333] [ENSMUST00000225175] [ENSMUST00000224222] [ENSMUST00000224672] [ENSMUST00000225232] [ENSMUST00000225630] [ENSMUST00000226079] [ENSMUST00000225979]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000057015
AA Change: S441T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: S441T

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 benign
Transcript: ENSMUST00000223607
AA Change: S553T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000223695
AA Change: S454T

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000223740
AA Change: S447T

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000223761
AA Change: S564T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000223771
Predicted Effect probably benign
Transcript: ENSMUST00000224752
AA Change: S558T

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000225238
AA Change: S461T

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect unknown
Transcript: ENSMUST00000224952
AA Change: S480T
Predicted Effect probably benign
Transcript: ENSMUST00000223981
AA Change: S566T

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000224049
AA Change: S434T

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000224333
AA Change: S572T

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000225175
AA Change: S551T

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000224222
AA Change: S553T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000224672
AA Change: S557T

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000225232
AA Change: S428T

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224750
Predicted Effect probably benign
Transcript: ENSMUST00000225630
AA Change: S428T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000226079
AA Change: S441T

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000225979
AA Change: S448T

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225508
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (81/82)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A G 2: 35,244,738 (GRCm39) S205P probably damaging Het
Abcc1 T C 16: 14,278,996 (GRCm39) V1102A probably benign Het
Acad8 A T 9: 26,896,853 (GRCm39) M202K probably damaging Het
Acoxl T A 2: 127,719,722 (GRCm39) M161K probably benign Het
Adamts4 T A 1: 171,080,143 (GRCm39) V35E probably damaging Het
Add2 A G 6: 86,087,894 (GRCm39) S614G probably benign Het
Adgrv1 T A 13: 81,567,427 (GRCm39) I5249L probably benign Het
Agps A G 2: 75,689,248 (GRCm39) T252A probably damaging Het
Alms1-ps1 G A 6: 85,732,584 (GRCm39) noncoding transcript Het
Ankrd24 T A 10: 81,480,776 (GRCm39) probably benign Het
Bcl9l A G 9: 44,416,733 (GRCm39) Q218R possibly damaging Het
Bin2 T C 15: 100,547,027 (GRCm39) Y232C probably damaging Het
Bptf A G 11: 107,002,120 (GRCm39) Y331H probably damaging Het
Ccr10 C T 11: 101,064,904 (GRCm39) V209M probably benign Het
Cflar A T 1: 58,791,810 (GRCm39) D371V possibly damaging Het
Col1a2 A G 6: 4,516,931 (GRCm39) probably benign Het
Crlf2 A G 5: 109,704,899 (GRCm39) V104A probably benign Het
Dennd1c CCGCCCCTCGCTGACAGC CC 17: 57,373,755 (GRCm39) probably null Het
Dmxl2 A G 9: 54,281,935 (GRCm39) probably null Het
Dnah17 C A 11: 117,985,810 (GRCm39) E1422D probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Efcab11 A G 12: 99,821,877 (GRCm39) L80S possibly damaging Het
Emc8 G A 8: 121,385,342 (GRCm39) T130M probably damaging Het
Epha6 C A 16: 60,245,198 (GRCm39) A334S possibly damaging Het
Erc2 A G 14: 27,688,467 (GRCm39) M196V probably benign Het
Etnk2 T C 1: 133,300,995 (GRCm39) I254T probably damaging Het
Fam120b C T 17: 15,622,061 (GRCm39) T13M probably damaging Het
Fam234b A G 6: 135,203,966 (GRCm39) K423E probably benign Het
Fcgbp G A 7: 27,784,738 (GRCm39) G266D probably damaging Het
Fndc4 A T 5: 31,451,978 (GRCm39) S146R probably benign Het
Frmd3 G A 4: 74,079,935 (GRCm39) probably null Het
Glrx2 C A 1: 143,615,446 (GRCm39) S16R possibly damaging Het
Gm26526 T G 7: 39,238,358 (GRCm39) noncoding transcript Het
Hc C T 2: 34,898,195 (GRCm39) probably null Het
Herc2 T C 7: 55,787,313 (GRCm39) C1695R probably damaging Het
Hic1 A G 11: 75,057,425 (GRCm39) probably null Het
Igkv4-92 A T 6: 68,732,564 (GRCm39) V5E possibly damaging Het
Irs1 G A 1: 82,266,491 (GRCm39) T575I probably damaging Het
Kcp A T 6: 29,504,283 (GRCm39) Y143* probably null Het
Klb A G 5: 65,540,813 (GRCm39) N969D probably benign Het
Klra6 T A 6: 129,990,393 (GRCm39) L239F probably damaging Het
Lhx6 A G 2: 35,977,378 (GRCm39) probably null Het
Lrrc34 G A 3: 30,696,923 (GRCm39) P116S possibly damaging Het
Map3k9 T A 12: 81,790,591 (GRCm39) K321* probably null Het
Mapk14 T C 17: 28,960,817 (GRCm39) V196A possibly damaging Het
Matcap2 G T 9: 22,343,066 (GRCm39) R187L probably damaging Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Mtmr12 T C 15: 12,270,045 (GRCm39) L711P probably damaging Het
Mylk T C 16: 34,732,600 (GRCm39) S627P probably benign Het
Nbea A T 3: 55,553,410 (GRCm39) Y2631N possibly damaging Het
Ncoa7 A G 10: 30,524,035 (GRCm39) V153A probably damaging Het
Or4a79 T C 2: 89,552,343 (GRCm39) I37M probably benign Het
Pax6 A T 2: 105,521,910 (GRCm39) D175V probably benign Het
Piezo1 A G 8: 123,213,519 (GRCm39) L1793P probably damaging Het
Pkp4 T C 2: 59,140,506 (GRCm39) V404A probably benign Het
Plxnb2 A G 15: 89,050,694 (GRCm39) Y421H probably benign Het
Prkdc T G 16: 15,612,961 (GRCm39) V3173G probably benign Het
Prss40 A T 1: 34,599,840 (GRCm39) I49N probably benign Het
Prx T A 7: 27,216,699 (GRCm39) V400E probably damaging Het
Rbm11 A C 16: 75,393,423 (GRCm39) T40P probably damaging Het
Resf1 T C 6: 149,227,634 (GRCm39) Y227H probably damaging Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Sema3f A G 9: 107,569,820 (GRCm39) Y70H probably damaging Het
Senp6 G A 9: 80,029,151 (GRCm39) E505K possibly damaging Het
Slc25a3 T C 10: 90,955,398 (GRCm39) I147M probably benign Het
Smarcal1 C T 1: 72,638,068 (GRCm39) P501S probably benign Het
Sox7 C T 14: 64,185,396 (GRCm39) T144M probably benign Het
Taar1 T C 10: 23,797,214 (GRCm39) F304S possibly damaging Het
Tcf3 A G 10: 80,263,517 (GRCm39) F46L probably damaging Het
Tmem184c A G 8: 78,324,449 (GRCm39) V347A probably damaging Het
Tpcn2 C T 7: 144,832,518 (GRCm39) E113K probably damaging Het
Vmn1r232 T A 17: 21,134,378 (GRCm39) Y74F possibly damaging Het
Vmn2r102 C T 17: 19,914,415 (GRCm39) T660I probably damaging Het
Zdhhc3 A G 9: 122,909,456 (GRCm39) M234T probably damaging Het
Zfp960 T A 17: 17,307,805 (GRCm39) L173H probably 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
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'- TGGCTTCATGAATATATCTTATAGTGC -3'
(R):5'- AAATTTCCTTTCCGAACCTTCTGTAG -3'

Sequencing Primer
(F):5'- GTGCTTTGATGTTAGAAGATAGT -3'
(R):5'- TGCATTTTTAAAACCACACAAACC -3'
Posted On 2016-09-01