Incidental Mutation 'R8179:Slc4a10'
ID 634524
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 067604-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8179 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 61876806-62157074 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 62073792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 285 (S285R)
Ref Sequence ENSEMBL: ENSMUSP00000108099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054484] [ENSMUST00000102735] [ENSMUST00000112480]
AlphaFold Q5DTL9
Predicted Effect probably benign
Transcript: ENSMUST00000054484
AA Change: S285R

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000061411
Gene: ENSMUSG00000026904
AA Change: S285R

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 benign
Transcript: ENSMUST00000102735
AA Change: S285R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000099796
Gene: ENSMUSG00000026904
AA Change: S285R

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 possibly damaging
Transcript: ENSMUST00000112480
AA Change: S285R

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108099
Gene: ENSMUSG00000026904
AA Change: S285R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,136,100 (GRCm39) Y170H probably damaging Het
Ace3 G T 11: 105,895,383 (GRCm39) V602L probably benign Het
Ahr T C 12: 35,560,050 (GRCm39) Q201R probably benign Het
Aldh18a1 A C 19: 40,545,952 (GRCm39) C612G probably damaging Het
Ankrd40 G A 11: 94,225,541 (GRCm39) A191T probably benign Het
Aox1 A G 1: 58,137,117 (GRCm39) D1169G probably damaging Het
Arfgap2 T C 2: 91,105,668 (GRCm39) F505L probably damaging Het
Arhgap40 T C 2: 158,381,776 (GRCm39) F423L probably damaging Het
Atf6b T C 17: 34,872,968 (GRCm39) M628T probably damaging Het
Casp8ap2 T A 4: 32,643,939 (GRCm39) L1004* probably null Het
Cc2d2a T A 5: 43,857,295 (GRCm39) L494Q probably damaging Het
Cd180 T C 13: 102,842,141 (GRCm39) S396P probably benign Het
Cdk19 T C 10: 40,270,368 (GRCm39) I59T possibly damaging Het
Cfap54 G T 10: 92,833,178 (GRCm39) F1149L possibly damaging Het
Chp1 C T 2: 119,378,253 (GRCm39) probably benign Het
Clmp T C 9: 40,692,475 (GRCm39) F248S probably benign Het
Ctc1 T A 11: 68,915,050 (GRCm39) I237K probably benign Het
Dcaf1 G T 9: 106,735,115 (GRCm39) V688L probably damaging Het
Ddx54 T A 5: 120,765,167 (GRCm39) M812K probably benign Het
Disc1 C T 8: 125,814,316 (GRCm39) P60L probably benign Het
Disp2 C G 2: 118,623,030 (GRCm39) P1254R probably damaging Het
Dnah11 T A 12: 117,842,284 (GRCm39) I4432F possibly damaging Het
Dnajc15 A T 14: 78,090,393 (GRCm39) I58N Het
Elovl5 A G 9: 77,884,181 (GRCm39) N159S probably damaging Het
Fgfr3 T C 5: 33,885,099 (GRCm39) V71A probably benign Het
Frs2 A T 10: 116,912,791 (GRCm39) H167Q probably damaging Het
Gm4553 A T 7: 141,718,594 (GRCm39) V278E unknown Het
Grin2d A T 7: 45,507,452 (GRCm39) Y416* probably null Het
Hmcn1 A T 1: 150,598,265 (GRCm39) V1679E probably benign Het
Igkv18-36 T C 6: 69,969,479 (GRCm39) Y105C probably damaging Het
Lingo1 T C 9: 56,527,134 (GRCm39) D491G probably damaging Het
Map3k1 A C 13: 111,885,581 (GRCm39) I1445M probably damaging Het
Med30 A T 15: 52,575,964 (GRCm39) Q20L probably damaging Het
Mgat5b A G 11: 116,822,554 (GRCm39) E96G probably benign Het
Mmp16 T A 4: 17,853,854 (GRCm39) probably null Het
Mogat1 A G 1: 78,504,255 (GRCm39) D176G possibly damaging Het
Mre11a T A 9: 14,708,362 (GRCm39) D142E probably null Het
Mybpc2 C A 7: 44,159,254 (GRCm39) V599L probably benign Het
Myot A T 18: 44,487,197 (GRCm39) R345* probably null Het
Or10d5 G A 9: 39,861,708 (GRCm39) R120C probably benign Het
Or10z1 T G 1: 174,078,130 (GRCm39) D121A possibly damaging Het
Or8g53 C T 9: 39,683,200 (GRCm39) V299I probably benign Het
Pglyrp2 T C 17: 32,635,003 (GRCm39) Y453C possibly damaging Het
Phrf1 A G 7: 140,836,493 (GRCm39) Y255C unknown Het
Plppr4 A G 3: 117,125,327 (GRCm39) S171P probably damaging Het
Ppip5k1 A T 2: 121,172,095 (GRCm39) probably null Het
Pramel57 T C 5: 95,667,753 (GRCm39) V111A probably benign Het
Rapgef3 A T 15: 97,658,621 (GRCm39) H170Q probably benign Het
Rnf10 ACCTCATCTCGTC AC 5: 115,398,176 (GRCm39) probably null Het
Rpe65 A G 3: 159,330,336 (GRCm39) Y501C probably benign Het
Ruvbl2 A G 7: 45,072,196 (GRCm39) I346T probably damaging Het
Sema3g A G 14: 30,942,542 (GRCm39) I48V probably benign Het
Slc6a11 G A 6: 114,222,567 (GRCm39) G521S probably benign Het
Slit3 A G 11: 35,554,903 (GRCm39) N912D probably benign Het
Traf3ip1 T C 1: 91,428,523 (GRCm39) V128A unknown Het
Trpc7 T A 13: 57,035,693 (GRCm39) N80I probably damaging Het
Ttc21b G A 2: 66,031,824 (GRCm39) H1031Y probably benign Het
Tubg2 A T 11: 101,051,082 (GRCm39) I235F probably benign Het
Ube2q2l A G 6: 136,378,240 (GRCm39) S197P probably damaging Het
Vmn2r118 A T 17: 55,915,484 (GRCm39) Y489N probably benign Het
Vmn2r54 G T 7: 12,366,018 (GRCm39) C305* probably null Het
Vmn2r86 G A 10: 130,288,953 (GRCm39) H183Y probably benign Het
Xrcc5 T C 1: 72,396,016 (GRCm39) V603A probably damaging Het
Zfp110 T A 7: 12,578,498 (GRCm39) Y136* probably null Het
Zfp112 C T 7: 23,825,063 (GRCm39) P348S 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
R4709:Slc4a10 UTSW 2 62,087,861 (GRCm39) missense probably null 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
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'- AGAAGTCAATGAACCCTAGGTTATGG -3'
(R):5'- TGTTTTCTCAAATGGGCGAAG -3'

Sequencing Primer
(F):5'- GTTCCACTTAATTGAATGTTCATGC -3'
(R):5'- AAGCCCTGCCTGTAGACTGAATTC -3'
Posted On 2020-07-13