Incidental Mutation 'R4709:Slc4a10'
ID 355455
Institutional Source Beutler Lab
Gene Symbol Slc4a10
Ensembl Gene ENSMUSG00000026904
Gene Name solute carrier family 4, sodium bicarbonate cotransporter-like, member 10
Synonyms NCBE
MMRRC Submission 042018-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4709 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 61876806-62157074 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62087861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 418 (D418G)
Ref Sequence ENSEMBL: ENSMUSP00000108099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054484] [ENSMUST00000102735] [ENSMUST00000112480]
AlphaFold Q5DTL9
Predicted Effect probably null
Transcript: ENSMUST00000054484
AA Change: D388G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061411
Gene: ENSMUSG00000026904
AA Change: D388G

DomainStartEndE-ValueType
low complexity region 57 79 N/A INTRINSIC
low complexity region 106 111 N/A INTRINSIC
Pfam:Band_3_cyto 146 405 9e-107 PFAM
Pfam:HCO3_cotransp 445 959 1e-246 PFAM
transmembrane domain 967 989 N/A INTRINSIC
low complexity region 1011 1025 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000102735
AA Change: D388G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099796
Gene: ENSMUSG00000026904
AA Change: D388G

DomainStartEndE-ValueType
low complexity region 57 79 N/A INTRINSIC
low complexity region 106 111 N/A INTRINSIC
Pfam:Band_3_cyto 146 405 2e-106 PFAM
Pfam:HCO3_cotransp 445 959 2.4e-246 PFAM
transmembrane domain 967 989 N/A INTRINSIC
low complexity region 1011 1025 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000112480
AA Change: D418G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108099
Gene: ENSMUSG00000026904
AA Change: D418G

DomainStartEndE-ValueType
low complexity region 57 79 N/A INTRINSIC
low complexity region 106 111 N/A INTRINSIC
Pfam:Band_3_cyto 146 435 9.6e-108 PFAM
Pfam:HCO3_cotransp 476 989 1.5e-245 PFAM
transmembrane domain 997 1019 N/A INTRINSIC
low complexity region 1041 1055 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155219
Meta Mutation Damage Score 0.7369 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 97% (77/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a small family of sodium-coupled bicarbonate transporters (NCBTs) that regulate the intracellular pH of neurons, the secretion of bicarbonate ions across the choroid plexus, and the pH of the brain extracellular fluid. The protein encoded by this gene was initially identified as a sodium-driven chloride bicarbonate exchanger (NCBE) though there is now evidence that its sodium/bicarbonate cotransport activity is independent of any chloride ion countertransport under physiological conditions. This gene is now classified as a member A10 of the SLC4 family of transmembrane solute carriers. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]
PHENOTYPE: Mice with homozygous disruption of this gene exhibit reduced brain ventricle volume, reduced neuronal excitability, impaired pH regulation of neurons, and increased threshold to induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 G A 17: 36,271,069 (GRCm39) T463M probably damaging Het
Arhgap35 C T 7: 16,297,511 (GRCm39) G518D probably damaging Het
Arhgdia A G 11: 120,470,517 (GRCm39) Y110H probably damaging Het
Atp8b3 T C 10: 80,372,604 (GRCm39) probably null Het
Bpifb6 T A 2: 153,750,436 (GRCm39) I309N possibly damaging Het
Cbr4 T C 8: 61,943,061 (GRCm39) V77A possibly damaging Het
Cers2 A G 3: 95,227,534 (GRCm39) Y54C possibly damaging Het
Cnbp A T 6: 87,821,120 (GRCm39) H145Q probably damaging Het
Csmd1 A T 8: 16,073,905 (GRCm39) I2030N possibly damaging Het
Csmd1 A G 8: 16,760,522 (GRCm39) probably null Het
Dhodh T C 8: 110,328,170 (GRCm39) probably null Het
Dnah11 T A 12: 117,982,495 (GRCm39) Y2558F probably benign Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
En1 A T 1: 120,534,872 (GRCm39) Y387F unknown Het
Ephb2 C A 4: 136,423,363 (GRCm39) C305F probably damaging Het
Fryl A G 5: 73,238,315 (GRCm39) V1477A probably benign Het
Gimap3 A T 6: 48,742,327 (GRCm39) L201Q probably benign Het
Gm10801 T G 2: 98,494,246 (GRCm39) probably null Het
Grhl1 A G 12: 24,636,132 (GRCm39) I283V possibly damaging Het
Grid2ip T A 5: 143,374,658 (GRCm39) L926H probably damaging Het
Gtf2h2 G T 13: 100,605,523 (GRCm39) C82* probably null Het
Gtf2ird1 T C 5: 134,433,588 (GRCm39) T280A probably benign Het
Gzmd T C 14: 56,367,698 (GRCm39) I192V probably null Het
Hectd1 A G 12: 51,834,695 (GRCm39) V855A possibly damaging Het
Hey1 A G 3: 8,730,963 (GRCm39) probably benign Het
Hpx A G 7: 105,249,243 (GRCm39) S19P probably benign Het
Incenp G A 19: 9,853,964 (GRCm39) R696W unknown Het
Itgam T C 7: 127,700,709 (GRCm39) V493A probably damaging Het
Ldlrad3 A G 2: 101,900,343 (GRCm39) I53T probably damaging Het
Map3k7 G T 4: 31,985,700 (GRCm39) E208* probably null Het
Myh9 A T 15: 77,671,717 (GRCm39) I458N probably damaging Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Nectin3 T A 16: 46,284,306 (GRCm39) Y126F possibly damaging Het
Nek5 A T 8: 22,573,443 (GRCm39) N504K probably damaging Het
Nlrp4c T A 7: 6,068,424 (GRCm39) H108Q probably benign Het
Or10d5 A T 9: 39,861,165 (GRCm39) L301M probably damaging Het
Or2ak4 T C 11: 58,649,013 (GRCm39) V174A possibly damaging Het
Or2at1 A T 7: 99,416,989 (GRCm39) I207F probably damaging Het
Or5h17 A T 16: 58,820,458 (GRCm39) T137S probably benign Het
Or9a2 G T 6: 41,748,442 (GRCm39) Q264K probably benign Het
Or9i14 T A 19: 13,792,814 (GRCm39) I47F possibly damaging Het
Parp6 T C 9: 59,549,052 (GRCm39) I507T probably damaging Het
Pcdhb12 A G 18: 37,570,548 (GRCm39) T565A probably benign Het
Pclo A G 5: 14,828,572 (GRCm39) N4676D unknown Het
Pdlim1 T A 19: 40,211,180 (GRCm39) H278L probably benign Het
Pfkfb3 G A 2: 11,498,719 (GRCm39) T46M probably damaging Het
Plscr2 A G 9: 92,173,067 (GRCm39) Y203C probably damaging Het
Plxna1 T C 6: 89,311,733 (GRCm39) D924G possibly damaging Het
Postn T A 3: 54,292,031 (GRCm39) probably benign Het
Ptpn23 A G 9: 110,217,924 (GRCm39) S674P possibly damaging Het
Ranbp6 C T 19: 29,788,984 (GRCm39) R456Q probably benign Het
Rbm43 A T 2: 51,819,728 (GRCm39) V46E probably damaging Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Rtn4r A G 16: 17,969,046 (GRCm39) Y158C probably damaging Het
Ryr2 A G 13: 11,731,884 (GRCm39) I2352T probably damaging Het
Sbk2 G T 7: 4,960,577 (GRCm39) R198S possibly damaging Het
Scube3 G A 17: 28,386,166 (GRCm39) probably null Het
Slc45a1 G A 4: 150,722,697 (GRCm39) P396S probably benign Het
Smarcad1 A G 6: 65,052,099 (GRCm39) T411A probably benign Het
Smtn G A 11: 3,474,663 (GRCm39) S716F probably damaging Het
Stag1 G T 9: 100,620,092 (GRCm39) R65L probably damaging Het
Stat1 A T 1: 52,165,680 (GRCm39) D92V probably damaging Het
Ttn A G 2: 76,582,428 (GRCm39) Y22822H probably damaging Het
Vmn1r172 A G 7: 23,359,606 (GRCm39) T164A probably benign Het
Vmn2r118 A T 17: 55,917,860 (GRCm39) D217E probably damaging Het
Vmn2r26 A G 6: 124,030,924 (GRCm39) E553G probably damaging Het
Vmn2r96 T C 17: 18,803,088 (GRCm39) F333L probably benign Het
Ypel5 G A 17: 73,155,726 (GRCm39) R98H probably benign Het
Zfp719 C T 7: 43,239,656 (GRCm39) H415Y probably damaging Het
Zyg11a T C 4: 108,062,268 (GRCm39) S176G probably benign Het
Other mutations in Slc4a10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00676:Slc4a10 APN 2 62,120,345 (GRCm39) missense probably damaging 1.00
IGL00990:Slc4a10 APN 2 62,117,284 (GRCm39) missense probably damaging 1.00
IGL01294:Slc4a10 APN 2 62,083,653 (GRCm39) critical splice acceptor site probably null
IGL01628:Slc4a10 APN 2 62,099,010 (GRCm39) missense probably damaging 1.00
IGL01773:Slc4a10 APN 2 62,021,101 (GRCm39) missense probably damaging 0.97
IGL02119:Slc4a10 APN 2 62,059,014 (GRCm39) missense probably damaging 1.00
IGL02125:Slc4a10 APN 2 62,098,515 (GRCm39) missense probably benign 0.02
IGL02406:Slc4a10 APN 2 62,021,113 (GRCm39) missense probably benign 0.37
IGL02890:Slc4a10 APN 2 62,117,260 (GRCm39) missense probably damaging 1.00
IGL02959:Slc4a10 APN 2 62,098,487 (GRCm39) missense probably damaging 1.00
IGL02979:Slc4a10 APN 2 62,119,091 (GRCm39) missense probably null 1.00
IGL03144:Slc4a10 APN 2 62,080,810 (GRCm39) missense probably benign 0.00
IGL03175:Slc4a10 APN 2 62,127,304 (GRCm39) missense probably damaging 0.99
IGL03383:Slc4a10 APN 2 62,097,780 (GRCm39) missense probably damaging 1.00
IGL03412:Slc4a10 APN 2 62,080,887 (GRCm39) splice site probably benign
R0085:Slc4a10 UTSW 2 62,074,690 (GRCm39) splice site probably benign
R0401:Slc4a10 UTSW 2 62,021,192 (GRCm39) missense probably benign 0.27
R0433:Slc4a10 UTSW 2 62,120,327 (GRCm39) missense probably benign 0.01
R0482:Slc4a10 UTSW 2 62,127,361 (GRCm39) splice site probably benign
R0506:Slc4a10 UTSW 2 62,080,877 (GRCm39) missense probably benign 0.13
R0511:Slc4a10 UTSW 2 62,117,206 (GRCm39) missense probably damaging 0.97
R0590:Slc4a10 UTSW 2 62,021,237 (GRCm39) splice site probably benign
R0883:Slc4a10 UTSW 2 62,073,742 (GRCm39) missense probably benign 0.11
R1167:Slc4a10 UTSW 2 62,058,918 (GRCm39) missense probably damaging 1.00
R1276:Slc4a10 UTSW 2 62,080,787 (GRCm39) missense probably damaging 0.99
R1395:Slc4a10 UTSW 2 62,143,630 (GRCm39) missense probably benign 0.00
R1455:Slc4a10 UTSW 2 62,117,274 (GRCm39) missense probably damaging 1.00
R1589:Slc4a10 UTSW 2 62,087,806 (GRCm39) missense probably damaging 1.00
R1677:Slc4a10 UTSW 2 62,155,071 (GRCm39) missense probably benign
R1848:Slc4a10 UTSW 2 62,146,950 (GRCm39) missense probably damaging 1.00
R1987:Slc4a10 UTSW 2 62,098,548 (GRCm39) missense probably damaging 1.00
R1988:Slc4a10 UTSW 2 62,098,548 (GRCm39) missense probably damaging 1.00
R2018:Slc4a10 UTSW 2 62,064,725 (GRCm39) missense probably damaging 1.00
R2019:Slc4a10 UTSW 2 62,064,725 (GRCm39) missense probably damaging 1.00
R2407:Slc4a10 UTSW 2 62,143,687 (GRCm39) missense probably benign
R4067:Slc4a10 UTSW 2 61,876,989 (GRCm39) start codon destroyed probably benign 0.00
R4184:Slc4a10 UTSW 2 62,147,786 (GRCm39) intron probably benign
R4255:Slc4a10 UTSW 2 62,112,280 (GRCm39) missense probably benign 0.10
R4282:Slc4a10 UTSW 2 62,074,687 (GRCm39) splice site probably null
R4296:Slc4a10 UTSW 2 62,064,772 (GRCm39) missense possibly damaging 0.80
R4361:Slc4a10 UTSW 2 62,073,729 (GRCm39) missense probably benign 0.00
R4596:Slc4a10 UTSW 2 62,127,202 (GRCm39) missense probably damaging 1.00
R4755:Slc4a10 UTSW 2 62,127,332 (GRCm39) missense probably damaging 1.00
R4836:Slc4a10 UTSW 2 62,098,531 (GRCm39) missense probably damaging 1.00
R4841:Slc4a10 UTSW 2 62,087,939 (GRCm39) missense possibly damaging 0.68
R4998:Slc4a10 UTSW 2 62,074,783 (GRCm39) missense probably benign 0.00
R5069:Slc4a10 UTSW 2 62,097,915 (GRCm39) missense probably benign 0.06
R5223:Slc4a10 UTSW 2 62,083,710 (GRCm39) missense probably damaging 1.00
R5244:Slc4a10 UTSW 2 62,119,069 (GRCm39) missense probably damaging 1.00
R5386:Slc4a10 UTSW 2 62,120,402 (GRCm39) missense probably damaging 1.00
R5808:Slc4a10 UTSW 2 62,080,816 (GRCm39) missense probably damaging 1.00
R5999:Slc4a10 UTSW 2 62,073,775 (GRCm39) missense probably benign 0.10
R6007:Slc4a10 UTSW 2 62,099,216 (GRCm39) missense probably benign 0.44
R6009:Slc4a10 UTSW 2 61,877,034 (GRCm39) missense probably benign 0.00
R6015:Slc4a10 UTSW 2 62,059,046 (GRCm39) missense probably benign 0.05
R6103:Slc4a10 UTSW 2 62,064,809 (GRCm39) missense probably damaging 1.00
R6141:Slc4a10 UTSW 2 62,041,789 (GRCm39) missense probably damaging 1.00
R6193:Slc4a10 UTSW 2 62,073,701 (GRCm39) splice site probably null
R6217:Slc4a10 UTSW 2 62,134,295 (GRCm39) missense probably benign 0.27
R6280:Slc4a10 UTSW 2 62,112,310 (GRCm39) missense probably benign 0.05
R6523:Slc4a10 UTSW 2 62,117,305 (GRCm39) nonsense probably null
R6643:Slc4a10 UTSW 2 62,059,054 (GRCm39) missense possibly damaging 0.96
R6660:Slc4a10 UTSW 2 62,080,747 (GRCm39) missense possibly damaging 0.55
R7008:Slc4a10 UTSW 2 62,117,266 (GRCm39) missense probably benign 0.00
R7083:Slc4a10 UTSW 2 62,064,839 (GRCm39) missense probably benign 0.03
R7223:Slc4a10 UTSW 2 62,099,009 (GRCm39) missense probably damaging 0.99
R7243:Slc4a10 UTSW 2 62,134,206 (GRCm39) missense probably damaging 1.00
R7449:Slc4a10 UTSW 2 62,134,290 (GRCm39) missense probably benign
R7621:Slc4a10 UTSW 2 62,080,823 (GRCm39) missense probably damaging 0.98
R7692:Slc4a10 UTSW 2 62,134,308 (GRCm39) missense possibly damaging 0.94
R7742:Slc4a10 UTSW 2 62,127,194 (GRCm39) missense probably damaging 1.00
R7905:Slc4a10 UTSW 2 62,098,495 (GRCm39) missense probably damaging 1.00
R8179:Slc4a10 UTSW 2 62,073,792 (GRCm39) missense possibly damaging 0.64
R8528:Slc4a10 UTSW 2 62,127,140 (GRCm39) missense possibly damaging 0.79
R8531:Slc4a10 UTSW 2 62,097,851 (GRCm39) missense probably damaging 1.00
R8772:Slc4a10 UTSW 2 62,134,284 (GRCm39) missense probably damaging 1.00
R9307:Slc4a10 UTSW 2 62,083,662 (GRCm39) missense probably damaging 1.00
R9531:Slc4a10 UTSW 2 62,099,154 (GRCm39) missense probably damaging 1.00
R9732:Slc4a10 UTSW 2 62,135,086 (GRCm39) missense probably damaging 0.97
U24488:Slc4a10 UTSW 2 61,877,002 (GRCm39) missense probably benign 0.05
X0019:Slc4a10 UTSW 2 62,058,943 (GRCm39) missense probably damaging 1.00
Z1088:Slc4a10 UTSW 2 62,058,915 (GRCm39) missense probably damaging 1.00
Z1176:Slc4a10 UTSW 2 62,074,760 (GRCm39) missense probably benign
Z1176:Slc4a10 UTSW 2 62,041,723 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGTCAGGATTAGTTAGGCTATCTGG -3'
(R):5'- GGTACACTGCCTTATTTTAGGGGC -3'

Sequencing Primer
(F):5'- AATCTTTCCTTTCATGGTCTGTGAAG -3'
(R):5'- TTAGGGGCATGAATTTAAAGAAAAAC -3'
Posted On 2015-10-21