Incidental Mutation 'R0410:Slc4a7'
ID 36613
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 038612-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.898) question?
Stock # R0410 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 7669819-7766808 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14738299 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 184 (T184S)
Ref Sequence ENSEMBL: ENSMUSP00000152950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057015] [ENSMUST00000223607] [ENSMUST00000223695] [ENSMUST00000223740] [ENSMUST00000223761] [ENSMUST00000223981] [ENSMUST00000224049] [ENSMUST00000224752] [ENSMUST00000225630] [ENSMUST00000224333] [ENSMUST00000225175] [ENSMUST00000224672] [ENSMUST00000225232] [ENSMUST00000225238] [ENSMUST00000224222] [ENSMUST00000225979] [ENSMUST00000226079]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000057015
AA Change: T178S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: T178S

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: T178S

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000223695
AA Change: T184S

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000223740
AA Change: T184S

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000223761
AA Change: T178S

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000223981
AA Change: T178S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224049
AA Change: T184S

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000224752
AA Change: T183S

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect unknown
Transcript: ENSMUST00000224952
AA Change: T197S
Predicted Effect possibly damaging
Transcript: ENSMUST00000225630
AA Change: T178S

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000224333
AA Change: T184S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225175
AA Change: T178S

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000224672
AA Change: T184S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000225232
AA Change: T178S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000225238
AA Change: T178S

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224222
AA Change: T178S

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225979
AA Change: T178S

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000226079
AA Change: T178S

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225078
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225496
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,606,268 (GRCm39) D170G probably benign Het
Actrt3 C T 3: 30,652,273 (GRCm39) G274S probably benign Het
Adamts18 G T 8: 114,440,990 (GRCm39) C889* probably null Het
Alkbh6 C T 7: 30,012,031 (GRCm39) P104S probably damaging Het
Alms1 A T 6: 85,564,785 (GRCm39) E53V unknown Het
Ap3s1 T C 18: 46,912,279 (GRCm39) C100R probably benign Het
Apbb2 G T 5: 66,609,149 (GRCm39) A166E possibly damaging Het
Asph A G 4: 9,595,415 (GRCm39) V174A probably damaging Het
Cacna2d2 T C 9: 107,401,819 (GRCm39) L758P probably damaging Het
Cacng5 A G 11: 107,768,195 (GRCm39) S271P possibly damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Chn1 A T 2: 73,462,094 (GRCm39) C236* probably null Het
Coro1b T C 19: 4,199,362 (GRCm39) V7A probably damaging Het
Dhx16 A G 17: 36,201,859 (GRCm39) Y962C probably damaging Het
Dixdc1 T C 9: 50,596,153 (GRCm39) D152G probably damaging Het
Dmrt1 T C 19: 25,483,467 (GRCm39) S84P probably damaging Het
Dnah10 A G 5: 124,832,799 (GRCm39) D844G probably benign Het
Edn3 C T 2: 174,603,482 (GRCm39) P77S possibly damaging Het
Efcab7 T C 4: 99,735,487 (GRCm39) probably null Het
Fam83g A G 11: 61,594,218 (GRCm39) D584G probably damaging Het
Fbxo7 T A 10: 85,865,102 (GRCm39) probably null Het
Ffar1 T C 7: 30,560,055 (GRCm39) T281A probably benign Het
Fntb T C 12: 76,934,826 (GRCm39) V201A probably benign Het
Gart C A 16: 91,438,215 (GRCm39) A101S probably damaging Het
Gbp9 T C 5: 105,232,939 (GRCm39) T238A probably benign Het
Hectd4 T C 5: 121,424,329 (GRCm39) L663S possibly damaging Het
Helz2 A T 2: 180,872,386 (GRCm39) V2512E probably damaging Het
Hip1 A C 5: 135,487,009 (GRCm39) L66R probably damaging Het
Iigp1 T A 18: 60,523,375 (GRCm39) D164E probably benign Het
Kcnip3 A G 2: 127,301,986 (GRCm39) S193P probably damaging Het
Klra9 T A 6: 130,165,707 (GRCm39) T103S probably benign Het
Meis2 T C 2: 115,694,709 (GRCm39) *471W probably null Het
Minar1 T G 9: 89,484,256 (GRCm39) E380D probably damaging Het
Mrpl21 T C 19: 3,334,792 (GRCm39) S45P possibly damaging Het
Mterf1b A G 5: 4,246,488 (GRCm39) E43G probably benign Het
Mycbp2 G T 14: 103,372,569 (GRCm39) S4092R probably damaging Het
Nfatc3 A T 8: 106,822,828 (GRCm39) N538I probably damaging Het
Nphp4 T C 4: 152,641,503 (GRCm39) C1095R probably benign Het
Npm2 T A 14: 70,889,993 (GRCm39) T13S probably benign Het
Or1m1 C A 9: 18,666,137 (GRCm39) V265F probably damaging Het
Or7e176 T A 9: 20,171,797 (GRCm39) F220L probably benign Het
Plcg2 A T 8: 118,342,112 (GRCm39) I1158F probably damaging Het
Popdc3 T C 10: 45,193,829 (GRCm39) V210A possibly damaging Het
Postn T C 3: 54,292,698 (GRCm39) L755S possibly damaging Het
Prdx6b T C 2: 80,123,373 (GRCm39) F61L probably damaging Het
Rars1 C T 11: 35,716,847 (GRCm39) R223H probably damaging Het
Robo1 G A 16: 72,768,872 (GRCm39) G479D possibly damaging Het
Scaf4 A G 16: 90,057,058 (GRCm39) Y98H unknown Het
Scn4a A G 11: 106,214,775 (GRCm39) I1274T probably damaging Het
Senp2 G T 16: 21,828,444 (GRCm39) R18L probably damaging Het
Six5 T A 7: 18,830,381 (GRCm39) V336D probably damaging Het
Slc31a2 G A 4: 62,210,890 (GRCm39) E8K probably benign Het
Slco2a1 T A 9: 102,950,513 (GRCm39) probably null Het
Smr3a T G 5: 88,156,070 (GRCm39) probably benign Het
Sqor T C 2: 122,629,442 (GRCm39) V100A probably benign Het
Srarp T C 4: 141,160,459 (GRCm39) N125D possibly damaging Het
Stam T C 2: 14,143,802 (GRCm39) V364A probably benign Het
Tgm5 T C 2: 120,908,039 (GRCm39) I46V possibly damaging Het
Tie1 A T 4: 118,337,766 (GRCm39) V443E probably damaging Het
Tipin T C 9: 64,195,397 (GRCm39) M1T probably null Het
Tnc T C 4: 63,925,931 (GRCm39) T950A probably benign Het
Tns3 T C 11: 8,385,852 (GRCm39) D1382G probably benign Het
Tor1aip1 A G 1: 155,911,686 (GRCm39) V99A possibly damaging Het
Trim16 C T 11: 62,711,297 (GRCm39) probably benign Het
Ttn G T 2: 76,618,701 (GRCm39) N14448K possibly damaging Het
Ttn C T 2: 76,717,204 (GRCm39) probably benign Het
Tut4 A G 4: 108,343,752 (GRCm39) R255G probably benign Het
Vmn1r23 A G 6: 57,903,175 (GRCm39) I201T probably benign Het
Vmn2r13 T A 5: 109,321,679 (GRCm39) K339N probably benign Het
Yap1 A G 9: 8,001,468 (GRCm39) Y173H 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
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
Predicted Primers PCR Primer
(F):5'- AAACCTCAGGCTTATGTGATGCAGG -3'
(R):5'- AGTCAAGGGTGGCCTTCATTTGTC -3'

Sequencing Primer
(F):5'- ATCAGGTTTTAATTGATGCAGGC -3'
(R):5'- TGTCCCTTTTCTGGGCAAG -3'
Posted On 2013-05-09