Incidental Mutation 'IGL03383:Slc4a10'
ID 420777
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03383
Quality Score
Status
Chromosome 2
Chromosomal Location 61876806-62157074 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62097780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 493 (K493M)
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: K463M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061411
Gene: ENSMUSG00000026904
AA Change: K463M

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: K463M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099796
Gene: ENSMUSG00000026904
AA Change: K463M

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: K493M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108099
Gene: ENSMUSG00000026904
AA Change: K493M

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: ENSMUST00000147917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155219
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl4 C T 4: 111,514,620 (GRCm39) probably benign Het
Cit T C 5: 116,011,904 (GRCm39) probably benign Het
Clmp A G 9: 40,685,737 (GRCm39) N211S probably damaging Het
Cnot2 A G 10: 116,330,722 (GRCm39) probably benign Het
Cntn6 A G 6: 104,753,418 (GRCm39) probably benign Het
Dnajb9 C T 12: 44,255,096 (GRCm39) probably benign Het
Ece2 T A 16: 20,451,847 (GRCm39) N411K possibly damaging Het
Fshr A G 17: 89,354,127 (GRCm39) I77T possibly damaging Het
Fshr A G 17: 89,293,121 (GRCm39) M519T probably damaging Het
Gm10654 G A 8: 71,384,775 (GRCm39) noncoding transcript Het
Gm5093 A G 17: 46,750,517 (GRCm39) I170T probably benign Het
Meis3 A G 7: 15,917,744 (GRCm39) K299R probably damaging Het
Nxf1 T C 19: 8,741,061 (GRCm39) F15L probably damaging Het
Nxpe3 T C 16: 55,670,076 (GRCm39) D343G probably benign Het
Or4a73 A T 2: 89,420,656 (GRCm39) Y268N probably benign Het
Polr3k A G 2: 181,507,820 (GRCm39) T65A probably damaging Het
Preb A T 5: 31,115,665 (GRCm39) W222R probably damaging Het
Psmd11 T C 11: 80,360,671 (GRCm39) I56T probably damaging Het
Rtkn2 A G 10: 67,853,667 (GRCm39) T232A probably damaging Het
Scaf11 T C 15: 96,318,064 (GRCm39) probably null Het
Stard10 A G 7: 100,991,777 (GRCm39) K112E probably damaging Het
Sugp1 A T 8: 70,522,217 (GRCm39) probably benign Het
Tasor A G 14: 27,163,918 (GRCm39) I235V possibly damaging Het
Tmem156 T C 5: 65,233,040 (GRCm39) E139G probably damaging Het
Tubd1 C T 11: 86,439,834 (GRCm39) probably benign Het
Uap1 G A 1: 169,986,460 (GRCm39) T174M probably damaging Het
Vmn2r13 T C 5: 109,304,398 (GRCm39) T678A probably damaging Het
Vmn2r84 A T 10: 130,222,556 (GRCm39) C555S probably damaging Het
Vps13d T C 4: 144,894,889 (GRCm39) probably null Het
Vps8 T C 16: 21,254,573 (GRCm39) probably null Het
Wee1 A G 7: 109,738,899 (GRCm39) N590S probably damaging Het
Zfp112 C A 7: 23,825,103 (GRCm39) S357Y probably damaging Het
Zfp423 T A 8: 88,586,080 (GRCm39) K48* probably null Het
Zscan4d A G 7: 10,896,692 (GRCm39) V226A 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
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
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
Posted On 2016-08-02