Incidental Mutation 'R5808:Slc4a10'
ID 448820
Institutional Source Beutler Lab
Gene Symbol Slc4a10
Ensembl Gene ENSMUSG00000026904
Gene Name solute carrier family 4, sodium bicarbonate cotransporter-like, member 10
Synonyms NCBE
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5808 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 61876806-62157074 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 62080816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 348 (A348T)
Ref Sequence ENSEMBL: ENSMUSP00000108099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054484] [ENSMUST00000102735] [ENSMUST00000112480]
AlphaFold Q5DTL9
Predicted Effect probably damaging
Transcript: ENSMUST00000054484
AA Change: A318T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061411
Gene: ENSMUSG00000026904
AA Change: A318T

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 damaging
Transcript: ENSMUST00000102735
AA Change: A318T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099796
Gene: ENSMUSG00000026904
AA Change: A318T

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 damaging
Transcript: ENSMUST00000112480
AA Change: A348T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108099
Gene: ENSMUSG00000026904
AA Change: A348T

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C T 10: 76,286,482 (GRCm39) R6W probably damaging Het
Ahnak T A 19: 8,987,599 (GRCm39) V2961E possibly damaging Het
Aldh1a7 A T 19: 20,685,561 (GRCm39) Y330N possibly damaging Het
Bag6 A G 17: 35,365,298 (GRCm39) Y1041C probably damaging Het
Baz1b T A 5: 135,250,812 (GRCm39) V866E probably benign Het
Bmpr2 A T 1: 59,906,560 (GRCm39) Y551F probably benign Het
Cage1 A G 13: 38,206,301 (GRCm39) probably benign Het
Caskin2 G T 11: 115,692,589 (GRCm39) P732Q probably damaging Het
Cbfa2t2 T C 2: 154,359,746 (GRCm39) probably null Het
Ccdc162 A T 10: 41,531,500 (GRCm39) M502K possibly damaging Het
Cfap157 T C 2: 32,670,657 (GRCm39) D197G probably damaging Het
CN725425 T A 15: 91,129,847 (GRCm39) S237T probably benign Het
Defb40 T C 8: 19,025,095 (GRCm39) H37R probably benign Het
Dis3l2 A C 1: 86,977,360 (GRCm39) S836R possibly damaging Het
Dnah14 T C 1: 181,568,724 (GRCm39) I2818T possibly damaging Het
Dpysl2 T A 14: 67,102,621 (GRCm39) probably null Het
Dsc1 A T 18: 20,219,886 (GRCm39) C761* probably null Het
Dsg1b A T 18: 20,541,782 (GRCm39) D763V probably damaging Het
Eif2ak1 C T 5: 143,820,812 (GRCm39) P251L probably benign Het
Epha6 A T 16: 59,503,105 (GRCm39) I934K probably damaging Het
Fbxo40 T C 16: 36,790,744 (GRCm39) E122G probably damaging Het
Filip1 C T 9: 79,725,983 (GRCm39) G879R possibly damaging Het
Frem2 A T 3: 53,559,984 (GRCm39) F1508I probably damaging Het
Gja1 A G 10: 56,264,594 (GRCm39) N318D probably benign Het
Gm11564 T C 11: 99,705,867 (GRCm39) S188G unknown Het
Hlcs A G 16: 94,063,491 (GRCm39) V523A probably benign Het
Kif1a C A 1: 92,970,420 (GRCm39) E1041D probably damaging Het
Lamtor1 A G 7: 101,559,289 (GRCm39) Y81C possibly damaging Het
Loxl1 A G 9: 58,201,732 (GRCm39) L453S probably damaging Het
Mcf2l A G 8: 13,043,937 (GRCm39) M1V probably null Het
Megf6 A G 4: 154,352,119 (GRCm39) Q1208R probably benign Het
Morc2a T A 11: 3,633,781 (GRCm39) I631N probably benign Het
Muc6 T C 7: 141,226,360 (GRCm39) probably benign Het
Mybpc1 T C 10: 88,406,428 (GRCm39) S139G possibly damaging Het
Myo18a T C 11: 77,720,127 (GRCm39) F1017L probably benign Het
Nup62 A C 7: 44,479,416 (GRCm39) Q477P possibly damaging Het
P2ry13 T A 3: 59,117,653 (GRCm39) I42F probably benign Het
Ptprb G A 10: 116,175,392 (GRCm39) R1129K probably benign Het
Rexo4 T A 2: 26,854,197 (GRCm39) K45I probably damaging Het
Rnf213 G A 11: 119,327,121 (GRCm39) V1703I probably benign Het
Sec23ip C A 7: 128,373,908 (GRCm39) A710E probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Het
Slc41a2 T C 10: 83,149,362 (GRCm39) T194A probably benign Het
Soat2 G A 15: 102,062,460 (GRCm39) probably null Het
Srms T C 2: 180,850,548 (GRCm39) S204G probably benign Het
Szt2 G A 4: 118,229,810 (GRCm39) R2774C unknown Het
Tcf7l2 T C 19: 55,896,973 (GRCm39) V182A probably damaging Het
Tmem167b C T 3: 108,467,559 (GRCm39) R29H probably benign Het
Trappc12 T A 12: 28,796,863 (GRCm39) D223V probably damaging Het
Ttc6 T A 12: 57,664,397 (GRCm39) S383R possibly damaging Het
Ubr1 C T 2: 120,791,573 (GRCm39) R137H possibly damaging Het
Vmn2r24 T A 6: 123,792,597 (GRCm39) C641* probably null Het
Vrk3 A G 7: 44,409,298 (GRCm39) D155G probably damaging Het
Xxylt1 T C 16: 30,869,503 (GRCm39) Y199C probably damaging Het
Zbtb46 A T 2: 181,065,363 (GRCm39) D262E probably benign Het
Zcchc9 A T 13: 91,948,766 (GRCm39) S58T probably benign Het
Zfp747l1 A T 7: 126,984,085 (GRCm39) probably benign Het
Zfyve16 A T 13: 92,631,563 (GRCm39) L1344* probably null 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
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'- ACTGAGGAATTTATCAGGCCAAG -3'
(R):5'- GTTTATGGGTAATGCGCTCAATTC -3'

Sequencing Primer
(F):5'- GAGGAATTTATCAGGCCAAGTATAC -3'
(R):5'- GGGTAATGCGCTCAATTCTAGTCAAG -3'
Posted On 2016-12-15