Incidental Mutation 'R1395:Slc4a10'
ID 162782
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 039457-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1395 (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 62143630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1055 (E1055G)
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: E1025G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000061411
Gene: ENSMUSG00000026904
AA Change: E1025G

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: E1025G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099796
Gene: ENSMUSG00000026904
AA Change: E1025G

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 benign
Transcript: ENSMUST00000112480
AA Change: E1055G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000108099
Gene: ENSMUSG00000026904
AA Change: E1055G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156534
Meta Mutation Damage Score 0.0628 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.0%
Validation Efficiency 99% (70/71)
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
2900026A02Rik A G 5: 113,249,362 (GRCm39) Y122H probably damaging Het
A330070K13Rik A G 5: 130,407,982 (GRCm39) probably benign Het
Abcc2 A G 19: 43,822,379 (GRCm39) R1406G probably benign Het
Adgrv1 G T 13: 81,534,907 (GRCm39) T5786K probably benign Het
Ankrd27 T C 7: 35,315,294 (GRCm39) F481S possibly damaging Het
Arhgap11a C T 2: 113,663,467 (GRCm39) V939I probably benign Het
Arhgap12 T C 18: 6,037,058 (GRCm39) N561S probably benign Het
Arhgef12 T C 9: 42,917,166 (GRCm39) H391R probably damaging Het
Asb3 T C 11: 31,051,032 (GRCm39) probably benign Het
C2cd5 T C 6: 143,007,464 (GRCm39) probably benign Het
Ccdc85a T C 11: 28,533,412 (GRCm39) K44R possibly damaging Het
Cep128 C T 12: 91,233,754 (GRCm39) R438Q probably benign Het
Cep192 A G 18: 67,991,992 (GRCm39) T1957A probably damaging Het
Col20a1 T A 2: 180,640,400 (GRCm39) V519E probably damaging Het
Cylc2 A G 4: 51,228,366 (GRCm39) K146E possibly damaging Het
Drgx C T 14: 32,330,326 (GRCm39) P148S probably benign Het
Dst T C 1: 34,204,236 (GRCm39) probably null Het
Eef1a1 C T 9: 78,386,300 (GRCm39) V402I probably benign Het
Esyt3 T C 9: 99,198,835 (GRCm39) probably benign Het
Extl3 A G 14: 65,314,945 (GRCm39) V79A possibly damaging Het
Fat3 C T 9: 16,158,212 (GRCm39) V1133I probably benign Het
Fcgbp A G 7: 27,792,804 (GRCm39) H936R probably damaging Het
Fdxacb1 TAGAC T 9: 50,683,796 (GRCm39) probably null Het
Fryl T C 5: 73,230,255 (GRCm39) H1634R probably damaging Het
Gm44511 G A 6: 128,797,293 (GRCm39) S32L possibly damaging Het
Gm8374 G T 14: 18,537,058 (GRCm39) N55K probably benign Het
Gria1 T A 11: 57,174,392 (GRCm39) I558N probably damaging Het
Gse1 G T 8: 121,301,738 (GRCm39) probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hectd4 T C 5: 121,466,576 (GRCm39) probably null Het
Herc1 T C 9: 66,346,463 (GRCm39) I1943T probably benign Het
Ift172 T C 5: 31,442,582 (GRCm39) probably benign Het
Ift81 G T 5: 122,706,986 (GRCm39) D485E probably benign Het
Lactb T C 9: 66,878,661 (GRCm39) probably benign Het
Map1a C T 2: 121,134,406 (GRCm39) H1741Y probably benign Het
Map1lc3b T C 8: 122,323,459 (GRCm39) Y110H probably benign Het
Mlh1 T C 9: 111,076,445 (GRCm39) D304G probably damaging Het
Myo1f A G 17: 33,802,714 (GRCm39) D386G probably damaging Het
Ncoa4 T A 14: 31,894,798 (GRCm39) probably null Het
Neto1 T C 18: 86,416,144 (GRCm39) probably benign Het
Nf1 T C 11: 79,426,809 (GRCm39) V1741A possibly damaging Het
Nkain2 C A 10: 32,766,185 (GRCm39) probably benign Het
Obsl1 T C 1: 75,469,309 (GRCm39) S109G probably damaging Het
Or51ah3 T C 7: 103,210,326 (GRCm39) L214P possibly damaging Het
Or51f23 G A 7: 102,453,414 (GRCm39) C243Y possibly damaging Het
Or6z6 T A 7: 6,491,361 (GRCm39) T171S probably damaging Het
Or9s13 T A 1: 92,548,267 (GRCm39) I213N probably benign Het
Phlpp1 T C 1: 106,278,348 (GRCm39) V920A possibly damaging Het
Psen1 G A 12: 83,771,346 (GRCm39) G209R probably damaging Het
Ralgapa2 T G 2: 146,230,420 (GRCm39) K963N probably damaging Het
Rdh12 A G 12: 79,255,839 (GRCm39) T9A probably benign Het
Rgma G T 7: 73,067,542 (GRCm39) A360S probably benign Het
Sag G A 1: 87,756,163 (GRCm39) V257I probably benign Het
Scaf1 T C 7: 44,657,721 (GRCm39) E386G probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Spata31e5 T C 1: 28,815,890 (GRCm39) E714G possibly damaging Het
Spata46 A G 1: 170,139,573 (GRCm39) T191A probably benign Het
Tgm2 T A 2: 157,966,172 (GRCm39) H494L probably benign Het
Tub C T 7: 108,620,161 (GRCm39) R102* probably null Het
Ugt3a1 T G 15: 9,306,378 (GRCm39) L176V possibly damaging Het
Vmn2r15 T A 5: 109,442,014 (GRCm39) I140L probably benign Het
Wdr44 T G X: 23,662,298 (GRCm39) C645G probably damaging Het
Wdr87-ps T A 7: 29,230,812 (GRCm39) noncoding transcript Het
Zfp322a C T 13: 23,540,945 (GRCm39) V266I probably benign Het
Zfp663 T C 2: 165,194,492 (GRCm39) R576G probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CACCTTGAGTGACATGGAGGAGATTG -3'
(R):5'- TTGCTGCACAGTGATGGATGGC -3'

Sequencing Primer
(F):5'- ATTACTTCGTGTTATGAGACTTTCC -3'
(R):5'- CTCAGGTTGTTGTTGTTTTAACAC -3'
Posted On 2014-03-17