Incidental Mutation 'R0433:Slc4a10'
ID 38896
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 038635-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0433 (G1)
Quality Score 111
Status Validated
Chromosome 2
Chromosomal Location 61876806-62157074 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 62120327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 788 (I788S)
Ref Sequence ENSEMBL: ENSMUSP00000061411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054484] [ENSMUST00000102735] [ENSMUST00000112480]
AlphaFold Q5DTL9
Predicted Effect probably benign
Transcript: ENSMUST00000054484
AA Change: I788S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000061411
Gene: ENSMUSG00000026904
AA Change: I788S

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: I788S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000099796
Gene: ENSMUSG00000026904
AA Change: I788S

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: I818S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000108099
Gene: ENSMUSG00000026904
AA Change: I818S

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.3%
Validation Efficiency 99% (108/109)
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T C 3: 68,777,636 (GRCm39) V199A possibly damaging Het
Abcb5 T C 12: 118,841,545 (GRCm39) M967V probably benign Het
Adcy10 T A 1: 165,379,591 (GRCm39) L951Q probably damaging Het
Amer2 A T 14: 60,616,032 (GRCm39) S76C probably damaging Het
Atad1 T C 19: 32,675,877 (GRCm39) I182M probably benign Het
Bpi A G 2: 158,100,339 (GRCm39) D42G probably damaging Het
C7 G T 15: 5,018,398 (GRCm39) T815K probably damaging Het
Cacna1g T A 11: 94,350,033 (GRCm39) D604V probably benign Het
Camk1g A G 1: 193,036,366 (GRCm39) F165L probably damaging Het
Ccdc69 C T 11: 54,943,716 (GRCm39) probably null Het
Ccser2 A C 14: 36,640,486 (GRCm39) F37L probably damaging Het
Cfap43 A G 19: 47,814,210 (GRCm39) F208S probably benign Het
Cfap54 G A 10: 92,814,942 (GRCm39) probably benign Het
Cfap69 A C 5: 5,699,853 (GRCm39) D62E probably damaging Het
Cnksr2 A T X: 156,671,554 (GRCm39) M483K probably benign Het
Cnksr2 C A X: 156,671,553 (GRCm39) M483I probably benign Het
Cog8 T C 8: 107,783,110 (GRCm39) S60G possibly damaging Het
Col4a3 C T 1: 82,647,940 (GRCm39) P484S unknown Het
Col6a4 C T 9: 105,945,193 (GRCm39) G974R probably damaging Het
Cplane1 T C 15: 8,246,046 (GRCm39) S1473P probably benign Het
Dbnl T G 11: 5,746,825 (GRCm39) probably null Het
Dhcr7 T C 7: 143,394,200 (GRCm39) C114R possibly damaging Het
Dnah2 C A 11: 69,350,114 (GRCm39) D2340Y probably damaging Het
Dnai4 T C 4: 102,960,450 (GRCm39) N67D probably benign Het
Dusp10 T A 1: 183,801,393 (GRCm39) Y387N probably damaging Het
Eipr1 C T 12: 28,909,330 (GRCm39) T199I possibly damaging Het
Emc2 T G 15: 43,360,520 (GRCm39) probably null Het
Enpp3 A G 10: 24,696,495 (GRCm39) S147P probably benign Het
Fam133b T A 5: 3,608,560 (GRCm39) probably benign Het
Fat1 C A 8: 45,477,686 (GRCm39) T2244K possibly damaging Het
Fbn1 A G 2: 125,190,135 (GRCm39) S1453P possibly damaging Het
Fez2 A T 17: 78,725,476 (GRCm39) F13I probably damaging Het
Ggnbp2 T C 11: 84,727,246 (GRCm39) K530R probably damaging Het
Gpa33 T C 1: 165,991,330 (GRCm39) probably benign Het
Gpr142 T C 11: 114,696,823 (GRCm39) I123T probably damaging Het
Il21 T G 3: 37,286,684 (GRCm39) I11L possibly damaging Het
Klhl7 A G 5: 24,332,700 (GRCm39) E86G probably damaging Het
Klk10 G T 7: 43,430,989 (GRCm39) A11S possibly damaging Het
Knl1 A T 2: 118,934,542 (GRCm39) D2115V probably damaging Het
Lonp2 A G 8: 87,360,582 (GRCm39) D185G probably damaging Het
Lrrc47 T C 4: 154,102,822 (GRCm39) probably benign Het
Lrrcc1 A G 3: 14,624,434 (GRCm39) I698V probably damaging Het
Lzts2 T C 19: 45,010,115 (GRCm39) V83A possibly damaging Het
Melk C A 4: 44,340,614 (GRCm39) probably benign Het
Mical1 G A 10: 41,355,486 (GRCm39) V150I probably benign Het
Morn3 C A 5: 123,177,396 (GRCm39) M129I probably benign Het
Mroh2b T A 15: 4,971,116 (GRCm39) D1040E probably benign Het
Mroh5 T C 15: 73,661,877 (GRCm39) N438S probably benign Het
Mroh5 T A 15: 73,662,657 (GRCm39) Q387L probably damaging Het
Myh15 A G 16: 48,965,599 (GRCm39) D1168G probably damaging Het
Nek10 A G 14: 14,860,927 (GRCm38) E493G probably benign Het
Nipsnap3a A G 4: 53,000,316 (GRCm39) Y227C probably damaging Het
Nlrp9c T A 7: 26,085,244 (GRCm39) T112S probably benign Het
Nphp4 T C 4: 152,602,629 (GRCm39) V401A probably benign Het
Nr1h2 A G 7: 44,199,411 (GRCm39) *365Q probably null Het
Or13p5 T C 4: 118,592,287 (GRCm39) V187A probably benign Het
Or5p54 T C 7: 107,554,469 (GRCm39) I207T probably damaging Het
Pacs2 T A 12: 113,020,464 (GRCm39) V279D possibly damaging Het
Pdcd2 C T 17: 15,746,646 (GRCm39) C171Y probably benign Het
Pde11a T A 2: 76,168,050 (GRCm39) D301V possibly damaging Het
Pfpl T G 19: 12,406,839 (GRCm39) N363K probably damaging Het
Phf14 T A 6: 11,933,742 (GRCm39) S201R probably damaging Het
Pip4k2c G A 10: 127,044,815 (GRCm39) P66S probably benign Het
Pou2f3 G T 9: 43,038,693 (GRCm39) H392N probably benign Het
Pou3f1 G T 4: 124,552,697 (GRCm39) G400C probably damaging Het
Ptprg T C 14: 12,220,620 (GRCm38) I1219T probably damaging Het
Rfx6 A G 10: 51,596,124 (GRCm39) D435G probably damaging Het
Rhpn2 T A 7: 35,084,899 (GRCm39) S598T probably benign Het
Sdccag8 C A 1: 176,672,387 (GRCm39) probably null Het
Sec16b C A 1: 157,362,279 (GRCm39) Y43* probably null Het
Sele T C 1: 163,876,813 (GRCm39) Y30H possibly damaging Het
Sgsm2 C T 11: 74,749,016 (GRCm39) probably null Het
Slc45a2 T C 15: 11,025,831 (GRCm39) Y394H probably benign Het
Slmap A T 14: 26,174,749 (GRCm39) L161* probably null Het
Slx4 A T 16: 3,803,882 (GRCm39) D977E probably benign Het
Spata31e5 A T 1: 28,816,423 (GRCm39) Y536* probably null Het
Spata31f3 A G 4: 42,874,013 (GRCm39) probably benign Het
Spen A T 4: 141,211,069 (GRCm39) M608K unknown Het
St8sia4 G C 1: 95,519,429 (GRCm39) T353R probably damaging Het
Stab2 G T 10: 86,679,355 (GRCm39) probably benign Het
Stx12 C T 4: 132,585,741 (GRCm39) G213D probably damaging Het
Synj2 A T 17: 6,084,123 (GRCm39) N270Y probably damaging Het
Tdrd9 C T 12: 111,992,015 (GRCm39) R438* probably null Het
Tert T C 13: 73,775,200 (GRCm39) Y18H probably damaging Het
Tph1 A T 7: 46,303,245 (GRCm39) F244L probably damaging Het
Triobp T C 15: 78,852,401 (GRCm39) F852L possibly damaging Het
Trpv1 T C 11: 73,143,834 (GRCm39) probably benign Het
Uggt2 A T 14: 119,312,741 (GRCm39) probably null Het
Ulk4 A G 9: 120,873,885 (GRCm39) I1182T probably benign Het
Uqcc1 A G 2: 155,752,288 (GRCm39) Y98H probably damaging Het
Usp25 A G 16: 76,906,105 (GRCm39) I854V probably benign Het
Usp50 T C 2: 126,603,464 (GRCm39) S361G probably damaging Het
Uspl1 C A 5: 149,151,625 (GRCm39) Q743K probably damaging Het
Vmn2r3 A G 3: 64,183,054 (GRCm39) V215A possibly damaging Het
Vmn2r61 A T 7: 41,915,335 (GRCm39) H94L probably benign Het
Vps37c T C 19: 10,690,393 (GRCm39) V285A probably benign Het
Vwa8 T C 14: 79,300,116 (GRCm39) V983A probably damaging Het
Zcchc9 C T 13: 91,954,081 (GRCm39) R58H probably benign Het
Zdbf2 T C 1: 63,345,302 (GRCm39) V1227A possibly damaging Het
Zfp292 T C 4: 34,839,959 (GRCm39) K64E probably damaging Het
Zfp948 A G 17: 21,807,764 (GRCm39) T319A probably benign Het
Zp3r T G 1: 130,504,870 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- CCTTAGTTATGTGAATGCTCCGCGAG -3'
(R):5'- ATAGTGGAATCCCAGACGGAAGCC -3'

Sequencing Primer
(F):5'- CTTAGTGAATGCTCAGCCAATC -3'
(R):5'- CCCCTTTAGAAGTAAGGTTTCAGAC -3'
Posted On 2013-05-23