Incidental Mutation 'IGL00990:Slc4a10'
ID306756
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc4a10
Ensembl Gene ENSMUSG00000026904
Gene Namesolute carrier family 4, sodium bicarbonate cotransporter-like, member 10
SynonymsNCBE
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00990
Quality Score
Status
Chromosome2
Chromosomal Location62046462-62326730 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 62286940 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Proline at position 718 (T718P)
Ref Sequence ENSEMBL: ENSMUSP00000061411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054484] [ENSMUST00000102735] [ENSMUST00000112480]
Predicted Effect probably damaging
Transcript: ENSMUST00000054484
AA Change: T718P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061411
Gene: ENSMUSG00000026904
AA Change: T718P

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: T718P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099796
Gene: ENSMUSG00000026904
AA Change: T718P

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: T748P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108099
Gene: ENSMUSG00000026904
AA Change: T748P

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
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: 150 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430531B16Rik A C 7: 139,978,103 V60G probably damaging Het
Adcy8 C A 15: 64,822,313 V372L probably benign Het
Bod1l T C 5: 41,828,865 D458G probably benign Het
C87414 T A 5: 93,636,477 Q376L probably damaging Het
Cacna1c G T 6: 118,613,295 H1416N probably damaging Het
Cacna2d1 T C 5: 15,935,069 I19T probably benign Het
Cadps T A 14: 12,715,374 T153S possibly damaging Het
Cd200r1 A T 16: 44,794,309 D317V possibly damaging Het
Dcaf5 C T 12: 80,338,832 R840H probably benign Het
Dnhd1 A C 7: 105,721,688 H4725P possibly damaging Het
Echdc3 C A 2: 6,195,727 L149F probably benign Het
Efhb T G 17: 53,462,621 Q220P possibly damaging Het
Efr3b A T 12: 3,975,411 Y18* probably null Het
Eri1 T C 8: 35,482,682 K41R possibly damaging Het
Eri1 C A 8: 35,482,646 G53V probably benign Het
Gm10212 A G 19: 11,569,560 noncoding transcript Het
Gm11168 T G 9: 3,005,124 F201C probably damaging Het
Gm14412 A C 2: 177,315,686 S139A probably benign Het
Gm21411 C T 4: 146,892,610 S69N possibly damaging Het
Gm21671 A C 5: 25,954,224 W41G probably benign Het
Gm21738 A G 14: 19,418,885 C16R probably benign Het
Gm21967 T A 13: 119,609,535 probably benign Het
Gm4952 A T 19: 12,623,623 D69V probably damaging Het
Gm5591 T G 7: 38,520,414 K345T probably benign Het
Gm7647 T C 5: 94,962,980 S7P probably benign Het
Gm9733 C T 3: 15,332,145 probably null Het
Gm9758 G A 5: 14,913,508 probably benign Het
Gtse1 C A 15: 85,868,817 Q378K possibly damaging Het
Haus3 T C 5: 34,166,346 K307E probably benign Het
Hjurp A G 1: 88,270,269 L96S probably benign Het
Ifi205 T A 1: 174,027,333 probably benign Het
Ighg1 A G 12: 113,329,184 V255A unknown Het
Ighv14-4 T A 12: 114,176,632 M49L probably benign Het
Jak1 A C 4: 101,171,357 L508R probably damaging Het
Kif18a A G 2: 109,334,422 Q821R probably benign Het
Kif21b T C 1: 136,152,342 S539P possibly damaging Het
Klhdc2 T C 12: 69,307,213 V266A probably benign Het
Lonp2 G T 8: 86,641,533 probably benign Het
Mpdz C T 4: 81,303,584 probably benign Het
Mroh2a G A 1: 88,230,746 E172K probably damaging Het
Mroh2a G T 1: 88,244,970 M823I probably benign Het
Mroh2a G A 1: 88,234,120 G309D possibly damaging Het
Mtif3 C A 5: 146,959,104 G58* probably null Het
Muc4 G T 16: 32,753,848 K1241N probably benign Het
Muc4 G A 16: 32,753,849 G1242R probably benign Het
Muc4 C T 16: 32,755,805 probably benign Het
Muc4 C T 16: 32,753,823 P1233L probably benign Het
Muc4 C A 16: 32,753,955 T1277K possibly damaging Het
Muc4 A G 16: 32,754,071 R1316G probably benign Het
Muc4 T G 16: 32,753,863 N1246K probably benign Het
Muc4 A T 16: 32,753,886 E1254V probably benign Het
Muc4 C T 16: 32,752,569 P816S probably benign Het
Muc6 C T 7: 141,638,890 A1957T possibly damaging Het
Naca T A 10: 128,043,800 probably benign Het
Nars2 A T 7: 97,002,790 probably benign Het
Odf3l1 T C 9: 56,849,057 E225G probably benign Het
Olfr1445 G T 19: 12,883,901 V7L probably benign Het
Olfr342 A C 2: 36,527,993 I194L probably benign Het
Olfr549 G T 7: 102,554,891 L202F probably damaging Het
Olfr812 T C 10: 129,842,473 T190A probably damaging Het
Pcdh7 G A 5: 57,720,464 E454K possibly damaging Het
Pip5kl1 C A 2: 32,583,347 A332D probably benign Het
Pisd A T 5: 32,739,358 S280T probably benign Het
Pramel5 A G 4: 144,273,979 L9P probably damaging Het
Prkd3 G T 17: 78,954,523 N787K probably benign Het
Prkdc A T 16: 15,702,115 H1139L probably benign Het
R3hdm1 A G 1: 128,162,196 probably benign Het
Rbfox2 T C 15: 77,102,936 N206D probably damaging Het
Rlf T C 4: 121,148,339 E1258G possibly damaging Het
Rpl8 T C 15: 76,905,042 probably benign Het
Senp5 A C 16: 31,990,274 V27G probably benign Het
Serpina1b T A 12: 103,728,266 K406N probably damaging Het
Sfi1 G A 11: 3,134,337 A975V probably benign Het
Sfi1 T C 11: 3,143,689 probably benign Het
Sfi1 C T 11: 3,135,671 A853T probably damaging Het
Shc1 T C 3: 89,424,229 S154P probably damaging Het
Skint5 A G 4: 113,542,873 probably null Het
Slc17a8 T C 10: 89,576,530 D531G probably benign Het
Slc7a11 C T 3: 50,379,069 R411Q probably damaging Het
Slitrk3 A G 3: 73,050,081 F453L probably damaging Het
Slk A C 19: 47,580,252 Q20P probably damaging Het
Smg5 T C 3: 88,343,038 probably null Het
Sp110 G A 1: 85,586,281 R252C possibly damaging Het
Sp140 C T 1: 85,626,165 R242C possibly damaging Het
Sp140 G A 1: 85,626,133 R231K probably benign Het
Speer4b G A 5: 27,501,274 P30S probably damaging Het
Stim1 T A 7: 102,426,747 H395Q probably damaging Het
Sult2a1 T C 7: 13,804,036 I187M probably benign Het
Thap1 C T 8: 26,160,882 P37L possibly damaging Het
Thap1 G A 8: 26,162,731 D189N probably benign Het
Thrap3 C T 4: 126,165,395 probably benign Het
Tmem132d C T 5: 127,784,832 V742I possibly damaging Het
Tmprss9 A G 10: 80,892,292 D572G possibly damaging Het
Tmtc1 T G 6: 148,443,944 T86P probably benign Het
Trip12 A T 1: 84,751,884 N1026K probably damaging Het
Ttll5 T A 12: 85,876,589 V280E probably damaging Het
Ubn2 T A 6: 38,482,605 D592E possibly damaging Het
Ubr1 T G 2: 120,930,872 H608P probably damaging Het
Ugt1a6b A T 1: 88,215,178 probably null Het
Vmn1r77 C A 7: 12,041,768 S89Y probably benign Het
Vmn1r77 A C 7: 12,041,476 I60L probably benign Het
Vmn2r114 G A 17: 23,290,965 A847V probably benign Het
Vmn2r114 A T 17: 23,291,238 L756Q probably damaging Het
Vmn2r114 G T 17: 23,290,983 S841Y probably benign Het
Vmn2r115 C T 17: 23,346,264 S375F probably benign Het
Vmn2r115 G A 17: 23,359,779 G742D probably damaging Het
Vmn2r115 T A 17: 23,359,824 L757Q probably damaging Het
Vmn2r115 G T 17: 23,348,034 G507* probably null Het
Vmn2r115 G A 17: 23,346,278 E380K probably benign Het
Vmn2r115 A G 17: 23,356,960 M511V probably benign Het
Vmn2r115 C T 17: 23,346,371 Q411* probably null Het
Vmn2r115 A G 17: 23,346,372 Q411R probably benign Het
Vmn2r115 C T 17: 23,359,397 P615S probably damaging Het
Vmn2r115 A G 17: 23,346,161 N341D probably benign Het
Vmn2r115 G T 17: 23,359,349 A599S probably benign Het
Vmn2r115 A C 17: 23,346,339 N400T probably damaging Het
Vmn2r115 C T 17: 23,346,176 P346S probably benign Het
Vmn2r115 A T 17: 23,346,206 M356L possibly damaging Het
Vmn2r116 C T 17: 23,397,727 P540S probably damaging Het
Vmn2r116 C T 17: 23,387,236 S374F probably benign Het
Vmn2r117 C T 17: 23,477,840 A198T probably damaging Het
Vmn2r117 T G 17: 23,475,429 K481N probably damaging Het
Vmn2r117 A C 17: 23,479,546 S18A probably benign Het
Vmn2r121 T G X: 124,127,802 K840N probably benign Het
Vmn2r121 T A X: 124,127,783 N847Y possibly damaging Het
Vmn2r121 C T X: 124,133,716 E73K probably benign Het
Vmn2r125 A C 4: 156,350,900 Q191P probably benign Het
Vmn2r125 C A 4: 156,350,899 Q191K probably benign Het
Vmn2r125 T C 4: 156,350,966 V213A probably benign Het
Vmn2r125 T C 4: 156,351,383 M352T probably benign Het
Vmn2r125 C T 4: 156,351,038 T237I probably benign Het
Vmn2r125 A T 4: 156,351,037 T237S probably benign Het
Vmn2r125 T A 4: 156,351,226 L300M probably benign Het
Vmn2r88 A G 14: 51,413,125 I98M probably benign Het
Vmn2r88 T C 14: 51,413,256 I142T probably benign Het
Vmn2r88 C T 14: 51,416,802 P539L possibly damaging Het
Vmn2r88 T C 14: 51,413,060 F77L probably benign Het
Vmn2r89 A C 14: 51,455,971 Q259H probably benign Het
Vmn2r89 T G 14: 51,457,493 L477V probably benign Het
Vmn2r-ps159 T C 4: 156,334,263 noncoding transcript Het
Vmn2r-ps159 C A 4: 156,338,435 noncoding transcript Het
Vmn2r-ps159 G T 4: 156,338,460 noncoding transcript Het
Vmn2r-ps159 T G 4: 156,334,562 noncoding transcript Het
Vmn2r-ps159 T G 4: 156,338,484 noncoding transcript Het
Vmn2r-ps159 G T 4: 156,334,397 noncoding transcript Het
Vmn2r-ps159 A T 4: 156,338,146 noncoding transcript Het
Zfp180 G A 7: 24,104,416 C85Y possibly damaging Het
Zfp180 C T 7: 24,104,830 R225C probably benign Het
Zfp180 G A 7: 24,104,995 V280M possibly damaging Het
Zfp982 G A 4: 147,512,369 C61Y probably benign Het
Other mutations in Slc4a10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00676:Slc4a10 APN 2 62290001 missense probably damaging 1.00
IGL01294:Slc4a10 APN 2 62253309 critical splice acceptor site probably null
IGL01628:Slc4a10 APN 2 62268666 missense probably damaging 1.00
IGL01773:Slc4a10 APN 2 62190757 missense probably damaging 0.97
IGL02119:Slc4a10 APN 2 62228670 missense probably damaging 1.00
IGL02125:Slc4a10 APN 2 62268171 missense probably benign 0.02
IGL02406:Slc4a10 APN 2 62190769 missense probably benign 0.37
IGL02890:Slc4a10 APN 2 62286916 missense probably damaging 1.00
IGL02959:Slc4a10 APN 2 62268143 missense probably damaging 1.00
IGL02979:Slc4a10 APN 2 62288747 missense probably null 1.00
IGL03144:Slc4a10 APN 2 62250466 missense probably benign 0.00
IGL03175:Slc4a10 APN 2 62296960 missense probably damaging 0.99
IGL03383:Slc4a10 APN 2 62267436 missense probably damaging 1.00
IGL03412:Slc4a10 APN 2 62250543 splice site probably benign
R0085:Slc4a10 UTSW 2 62244346 splice site probably benign
R0401:Slc4a10 UTSW 2 62190848 missense probably benign 0.27
R0433:Slc4a10 UTSW 2 62289983 missense probably benign 0.01
R0482:Slc4a10 UTSW 2 62297017 splice site probably benign
R0506:Slc4a10 UTSW 2 62250533 missense probably benign 0.13
R0511:Slc4a10 UTSW 2 62286862 missense probably damaging 0.97
R0590:Slc4a10 UTSW 2 62190893 splice site probably benign
R0883:Slc4a10 UTSW 2 62243398 missense probably benign 0.11
R1167:Slc4a10 UTSW 2 62228574 missense probably damaging 1.00
R1276:Slc4a10 UTSW 2 62250443 missense probably damaging 0.99
R1395:Slc4a10 UTSW 2 62313286 missense probably benign 0.00
R1455:Slc4a10 UTSW 2 62286930 missense probably damaging 1.00
R1589:Slc4a10 UTSW 2 62257462 missense probably damaging 1.00
R1677:Slc4a10 UTSW 2 62324727 missense probably benign
R1848:Slc4a10 UTSW 2 62316606 missense probably damaging 1.00
R1987:Slc4a10 UTSW 2 62268204 missense probably damaging 1.00
R1988:Slc4a10 UTSW 2 62268204 missense probably damaging 1.00
R2018:Slc4a10 UTSW 2 62234381 missense probably damaging 1.00
R2019:Slc4a10 UTSW 2 62234381 missense probably damaging 1.00
R2407:Slc4a10 UTSW 2 62313343 missense probably benign
R4067:Slc4a10 UTSW 2 62046645 start codon destroyed probably benign 0.00
R4184:Slc4a10 UTSW 2 62317442 intron probably benign
R4255:Slc4a10 UTSW 2 62281936 missense probably benign 0.10
R4282:Slc4a10 UTSW 2 62244343 splice site probably null
R4296:Slc4a10 UTSW 2 62234428 missense possibly damaging 0.80
R4361:Slc4a10 UTSW 2 62243385 missense probably benign 0.00
R4596:Slc4a10 UTSW 2 62296858 missense probably damaging 1.00
R4709:Slc4a10 UTSW 2 62257517 missense probably null 1.00
R4755:Slc4a10 UTSW 2 62296988 missense probably damaging 1.00
R4836:Slc4a10 UTSW 2 62268187 missense probably damaging 1.00
R4841:Slc4a10 UTSW 2 62257595 missense possibly damaging 0.68
R4998:Slc4a10 UTSW 2 62244439 missense probably benign 0.00
R5069:Slc4a10 UTSW 2 62267571 missense probably benign 0.06
R5223:Slc4a10 UTSW 2 62253366 missense probably damaging 1.00
R5244:Slc4a10 UTSW 2 62288725 missense probably damaging 1.00
R5386:Slc4a10 UTSW 2 62290058 missense probably damaging 1.00
R5808:Slc4a10 UTSW 2 62250472 missense probably damaging 1.00
R5999:Slc4a10 UTSW 2 62243431 missense probably benign 0.10
R6007:Slc4a10 UTSW 2 62268872 missense probably benign 0.44
R6009:Slc4a10 UTSW 2 62046690 missense probably benign 0.00
R6015:Slc4a10 UTSW 2 62228702 missense probably benign 0.05
R6103:Slc4a10 UTSW 2 62234465 missense probably damaging 1.00
R6141:Slc4a10 UTSW 2 62211445 missense probably damaging 1.00
R6193:Slc4a10 UTSW 2 62243357 splice site probably null
R6217:Slc4a10 UTSW 2 62303951 missense probably benign 0.27
R6280:Slc4a10 UTSW 2 62281966 missense probably benign 0.05
R6523:Slc4a10 UTSW 2 62286961 nonsense probably null
R6643:Slc4a10 UTSW 2 62228710 missense possibly damaging 0.96
R6660:Slc4a10 UTSW 2 62250403 missense possibly damaging 0.55
R7008:Slc4a10 UTSW 2 62286922 missense probably benign 0.00
R7083:Slc4a10 UTSW 2 62234495 missense probably benign 0.03
R7223:Slc4a10 UTSW 2 62268665 missense probably damaging 0.99
R7243:Slc4a10 UTSW 2 62303862 missense probably damaging 1.00
U24488:Slc4a10 UTSW 2 62046658 missense probably benign 0.05
X0019:Slc4a10 UTSW 2 62228599 missense probably damaging 1.00
Z1088:Slc4a10 UTSW 2 62228571 missense probably damaging 1.00
Posted On2015-04-16