Incidental Mutation 'R9043:Slc4a7'
ID 687873
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 068870-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.925) question?
Stock # R9043 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 7669819-7766808 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14775048 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 826 (L826P)
Ref Sequence ENSEMBL: ENSMUSP00000058313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057015] [ENSMUST00000223607] [ENSMUST00000223695] [ENSMUST00000223740] [ENSMUST00000223761] [ENSMUST00000223981] [ENSMUST00000224049] [ENSMUST00000224222] [ENSMUST00000224333] [ENSMUST00000224672] [ENSMUST00000224752] [ENSMUST00000225175] [ENSMUST00000225232] [ENSMUST00000225238] [ENSMUST00000225630] [ENSMUST00000225979] [ENSMUST00000226079]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000057015
AA Change: L826P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: L826P

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: L938P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000223695
AA Change: L839P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223740
AA Change: L832P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223761
AA Change: L949P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223981
AA Change: L951P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000224049
AA Change: L819P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000224222
AA Change: L938P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000224333
AA Change: L957P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000224672
AA Change: L942P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000224752
AA Change: L943P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000225175
AA Change: L936P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000225232
AA Change: L813P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000225238
AA Change: L846P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000225630
AA Change: L813P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000225979
AA Change: L833P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000226079
AA Change: L826P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.0%
Validation Efficiency 99% (87/88)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik T A 8: 88,309,238 (GRCm39) S134T possibly damaging Het
Aadacl4 T A 4: 144,349,790 (GRCm39) L349Q probably damaging Het
Ankrd29 T C 18: 12,428,970 (GRCm39) N33S probably damaging Het
Arid3b T C 9: 57,699,900 (GRCm39) S536G possibly damaging Het
Art5 A C 7: 101,748,699 (GRCm39) M1R probably null Het
Arvcf T A 16: 18,218,452 (GRCm39) C545S probably damaging Het
Atpsckmt A G 15: 31,617,101 (GRCm39) T189A probably benign Het
Axin2 T A 11: 108,833,794 (GRCm39) N580K probably benign Het
Cdh23 T G 10: 60,151,478 (GRCm39) D2469A probably benign Het
Cep350 T A 1: 155,773,228 (GRCm39) T1781S probably damaging Het
Cfap65 T A 1: 74,943,847 (GRCm39) T1555S possibly damaging Het
Chga G A 12: 102,529,054 (GRCm39) E344K possibly damaging Het
Ckap2l A T 2: 129,126,892 (GRCm39) L429M probably damaging Het
Cpne7 C T 8: 123,856,951 (GRCm39) P402L probably damaging Het
Cyp2g1 A G 7: 26,509,256 (GRCm39) N110S probably benign Het
Cyp3a11 T C 5: 145,805,995 (GRCm39) D124G probably benign Het
Dgkq A T 5: 108,801,061 (GRCm39) V527D probably damaging Het
Dnah3 T C 7: 119,551,272 (GRCm39) I37V probably benign Het
Dnah9 T A 11: 65,845,680 (GRCm39) E3068V Het
Dusp23 T C 1: 172,460,184 (GRCm39) E89G probably null Het
Fam187a A G 11: 102,776,685 (GRCm39) Y163C possibly damaging Het
Gabrg2 T A 11: 41,865,662 (GRCm39) I106F probably damaging Het
Gpc2 A G 5: 138,277,193 (GRCm39) I78T probably benign Het
Gpr149 A C 3: 62,511,360 (GRCm39) L213R probably damaging Het
Grm1 A T 10: 10,565,056 (GRCm39) L1084* probably null Het
Gypa A G 8: 81,222,946 (GRCm39) T17A unknown Het
Gys2 A T 6: 142,376,059 (GRCm39) F534L probably damaging Het
Iqce A T 5: 140,651,810 (GRCm39) M721K probably benign Het
Klrc2 T A 6: 129,635,741 (GRCm39) Y129F probably damaging Het
Krt14 T C 11: 100,095,464 (GRCm39) S314G possibly damaging Het
L3mbtl3 T C 10: 26,156,152 (GRCm39) Q685R unknown Het
Lamb3 A T 1: 193,007,919 (GRCm39) K206* probably null Het
Lgr5 A G 10: 115,314,343 (GRCm39) I198T probably damaging Het
Mapk10 A T 5: 103,074,025 (GRCm39) probably benign Het
Mcm6 C T 1: 128,271,231 (GRCm39) D463N probably damaging Het
Med15 A T 16: 17,470,582 (GRCm39) W742R probably benign Het
Meis1 T A 11: 18,831,916 (GRCm39) Q374L possibly damaging Het
Nrxn3 T C 12: 89,227,252 (GRCm39) C296R probably damaging Het
Ntaq1 A G 15: 58,014,004 (GRCm39) Y67C possibly damaging Het
Oaf C T 9: 43,135,308 (GRCm39) A157T probably damaging Het
Oca2 T A 7: 55,927,189 (GRCm39) probably null Het
Or5b110-ps1 A T 19: 13,260,074 (GRCm39) M116K probably damaging Het
Or5b12 T A 19: 12,897,667 (GRCm39) E2V probably benign Het
Or5d36 T A 2: 87,900,983 (GRCm39) T248S possibly damaging Het
Or9k2b A T 10: 130,016,154 (GRCm39) H198Q probably benign Het
Pacs1 A G 19: 5,188,964 (GRCm39) I806T probably benign Het
Pax2 T A 19: 44,804,499 (GRCm39) S257T probably benign Het
Pbxip1 A T 3: 89,350,794 (GRCm39) T72S probably benign Het
Pcdhb14 T C 18: 37,581,851 (GRCm39) I319T probably damaging Het
Pcdhga2 C A 18: 37,802,963 (GRCm39) A269E possibly damaging Het
Pdzph1 A C 17: 59,280,535 (GRCm39) N582K probably benign Het
Plk2 A T 13: 110,533,194 (GRCm39) I186F probably damaging Het
Pzp A T 6: 128,471,742 (GRCm39) C895S probably damaging Het
Rasa2 A T 9: 96,484,770 (GRCm39) V148D probably damaging Het
Rgsl1 A T 1: 153,717,567 (GRCm39) I14N possibly damaging Het
Rhox3c C T X: 36,651,303 (GRCm39) probably benign Het
Rnf213 A G 11: 119,349,739 (GRCm39) R3867G Het
Rpap3 A G 15: 97,584,443 (GRCm39) Y334H possibly damaging Het
Scara3 A C 14: 66,169,070 (GRCm39) N182K probably damaging Het
Sh3bp1 A G 15: 78,791,449 (GRCm39) E412G possibly damaging Het
Sh3tc2 T A 18: 62,122,961 (GRCm39) I574N possibly damaging Het
Slc16a11 T C 11: 70,106,520 (GRCm39) Y253H probably damaging Het
Slc38a4 A T 15: 96,906,805 (GRCm39) V311E possibly damaging Het
Spag9 T G 11: 93,951,085 (GRCm39) V83G Het
Sspo T G 6: 48,470,214 (GRCm39) V4560G probably benign Het
Stxbp2 T A 8: 3,684,478 (GRCm39) F144I Het
Tafa2 T C 10: 123,540,294 (GRCm39) V50A probably damaging Het
Tdh T C 14: 63,730,278 (GRCm39) I334V probably benign Het
Tesk2 C A 4: 116,660,148 (GRCm39) S451Y probably benign Het
Tjp1 A T 7: 64,962,679 (GRCm39) V1166E probably benign Het
Tmeff2 G A 1: 51,018,779 (GRCm39) V254M unknown Het
Tmem126a A G 7: 90,100,749 (GRCm39) probably null Het
Togaram2 C G 17: 71,993,699 (GRCm39) P2A probably benign Het
Trappc14 G A 5: 138,259,889 (GRCm39) T389I possibly damaging Het
Tssk4 C T 14: 55,889,211 (GRCm39) R246W probably damaging Het
Tubal3 C T 13: 3,982,708 (GRCm39) R163* probably null Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Vezt T C 10: 93,820,027 (GRCm39) N446S probably damaging Het
Vim A T 2: 13,579,249 (GRCm39) T3S unknown Het
Vmn2r45 A G 7: 8,474,904 (GRCm39) L708P possibly damaging Het
Yes1 A G 5: 32,810,312 (GRCm39) Y157C probably damaging Het
Zfp358 A G 8: 3,545,810 (GRCm39) T131A probably benign Het
Zfp426 C T 9: 20,386,308 (GRCm39) V58M probably damaging Het
Zfp692 T C 11: 58,198,550 (GRCm39) S47P probably damaging Het
Zfp719 A T 7: 43,239,605 (GRCm39) T398S 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
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
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'- GAATAGATCCACTTATGTGCTGTG -3'
(R):5'- ACGGCAAGCCCATGATAGAG -3'

Sequencing Primer
(F):5'- ACTTATGTGCTGTGGAAATTTGGTAC -3'
(R):5'- GCCCATGATAGAGCAGACTC -3'
Posted On 2021-11-19