Incidental Mutation 'IGL01446:Slc26a3'
ID84443
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc26a3
Ensembl Gene ENSMUSG00000001225
Gene Namesolute carrier family 26, member 3
Synonyms9030623B18Rik, 9130013M11Rik, Dra
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.634) question?
Stock #IGL01446
Quality Score
Status
Chromosome12
Chromosomal Location31390871-31473917 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 31452491 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001254] [ENSMUST00000110854] [ENSMUST00000167432] [ENSMUST00000171616]
Predicted Effect probably benign
Transcript: ENSMUST00000001254
SMART Domains Protein: ENSMUSP00000001254
Gene: ENSMUSG00000001225

DomainStartEndE-ValueType
Pfam:Sulfate_transp 73 468 3.1e-115 PFAM
low complexity region 475 481 N/A INTRINSIC
Pfam:STAS 519 709 2e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110854
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165816
Predicted Effect probably benign
Transcript: ENSMUST00000167432
SMART Domains Protein: ENSMUSP00000130676
Gene: ENSMUSG00000001225

DomainStartEndE-ValueType
Pfam:Sulfate_tra_GLY 58 141 5.3e-31 PFAM
Pfam:Sulfate_transp 186 235 8.9e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168209
Predicted Effect probably benign
Transcript: ENSMUST00000171616
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the solute carrier/sulfate transporter family. The encoded protein is predominantly expressed in the intestine where it is essential for chloride absorption. Disruption of this gene results in chloride-rich diarrhea and compensatory up-regulation of ion-absorbing transporters. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygotes for a null allele display partial postnatal lethality; survivors are small and show lower luminal Cl-/HCO3- exchange activity, acidic chloridorrhea, volume depletion, upregulation of ion transporters, dilated colons, higher crypt proliferation and plasma aldosterone, and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Acaca A G 11: 84,260,631 K785R probably damaging Het
Acsm3 G A 7: 119,778,454 V401M probably damaging Het
Aff4 G T 11: 53,415,469 R1146L probably damaging Het
Alms1 C A 6: 85,696,701 P3562T probably damaging Het
Arsj A G 3: 126,438,814 E403G probably benign Het
Baiap2l1 C T 5: 144,275,913 V431I probably benign Het
Cecr2 T A 6: 120,758,599 M904K probably benign Het
Cenpe A T 3: 135,237,539 T775S probably benign Het
Dennd1b G A 1: 139,023,110 E30K possibly damaging Het
Dnah5 A G 15: 28,326,669 D2008G probably damaging Het
Dnm2 T C 9: 21,481,376 V460A probably damaging Het
Ell2 G T 13: 75,761,991 L285F probably benign Het
Erg A G 16: 95,361,282 S322P probably damaging Het
Extl3 A G 14: 65,077,080 F218L probably benign Het
Fam84a A T 12: 14,149,928 I266N probably damaging Het
Fzd9 T C 5: 135,250,566 E155G probably damaging Het
Ghr A G 15: 3,333,355 W212R probably damaging Het
Gulp1 A G 1: 44,744,548 probably benign Het
Hdgfl2 C T 17: 56,097,281 R332C possibly damaging Het
Nsd2 T C 5: 33,861,186 probably benign Het
Olfr1259 A G 2: 89,943,938 F59S probably damaging Het
Olfr1441 T C 19: 12,422,801 I164T possibly damaging Het
Olfr1480 C T 19: 13,530,252 T237I probably benign Het
Phf11b A C 14: 59,341,291 S9A probably benign Het
Psd4 T C 2: 24,405,395 S854P probably damaging Het
Reln C T 5: 21,969,317 D1963N probably damaging Het
Rpe65 T A 3: 159,600,405 probably benign Het
Sdccag8 T C 1: 176,845,245 S235P probably damaging Het
Sgip1 G T 4: 102,928,913 probably null Het
Skint5 G A 4: 113,942,822 P36L probably damaging Het
Snx13 T A 12: 35,124,480 C669* probably null Het
Svil A T 18: 5,062,385 T902S probably damaging Het
Syne2 T C 12: 76,041,375 S4989P probably damaging Het
Ttn G A 2: 76,809,939 T13775M probably damaging Het
Ubr4 T C 4: 139,438,040 probably benign Het
Ush1c C T 7: 46,208,956 R636H possibly damaging Het
Usp17lc A T 7: 103,418,444 R315S probably benign Het
Vmn1r236 T A 17: 21,286,656 V12D probably benign Het
Wsb2 T G 5: 117,371,164 I170S probably damaging Het
Zfp800 G A 6: 28,242,984 L661F possibly damaging Het
Other mutations in Slc26a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01717:Slc26a3 APN 12 31463477 missense probably benign 0.11
IGL02151:Slc26a3 APN 12 31447831 missense probably damaging 0.99
IGL02374:Slc26a3 APN 12 31470833 splice site probably benign
IGL02445:Slc26a3 APN 12 31457052 missense possibly damaging 0.65
IGL02526:Slc26a3 APN 12 31457096 missense probably damaging 1.00
IGL02831:Slc26a3 APN 12 31452629 missense probably damaging 1.00
PIT4486001:Slc26a3 UTSW 12 31470950 missense probably benign 0.01
R0422:Slc26a3 UTSW 12 31465849 missense possibly damaging 0.90
R0544:Slc26a3 UTSW 12 31447740 missense probably benign
R0781:Slc26a3 UTSW 12 31465813 missense possibly damaging 0.90
R1561:Slc26a3 UTSW 12 31466452 missense probably benign 0.18
R1860:Slc26a3 UTSW 12 31465846 missense probably benign
R1954:Slc26a3 UTSW 12 31450816 missense probably damaging 0.98
R1967:Slc26a3 UTSW 12 31465778 missense probably damaging 0.99
R2240:Slc26a3 UTSW 12 31457072 missense probably damaging 1.00
R2508:Slc26a3 UTSW 12 31470903 missense probably damaging 0.99
R3894:Slc26a3 UTSW 12 31464720 missense probably damaging 1.00
R3914:Slc26a3 UTSW 12 31453906 missense probably benign 0.00
R3978:Slc26a3 UTSW 12 31465860 splice site probably null
R4701:Slc26a3 UTSW 12 31447774 missense probably damaging 1.00
R4713:Slc26a3 UTSW 12 31457080 missense possibly damaging 0.75
R5024:Slc26a3 UTSW 12 31453908 missense probably benign
R5058:Slc26a3 UTSW 12 31470965 missense possibly damaging 0.66
R5168:Slc26a3 UTSW 12 31468554 missense possibly damaging 0.81
R5361:Slc26a3 UTSW 12 31450981 critical splice donor site probably null
R5715:Slc26a3 UTSW 12 31448843 critical splice donor site probably null
R5951:Slc26a3 UTSW 12 31452715 intron probably benign
R6662:Slc26a3 UTSW 12 31457346 nonsense probably null
R6895:Slc26a3 UTSW 12 31463524 missense probably damaging 0.96
R7069:Slc26a3 UTSW 12 31450935 missense probably damaging 0.96
R7484:Slc26a3 UTSW 12 31447788 missense probably benign 0.22
R7744:Slc26a3 UTSW 12 31463465 critical splice acceptor site probably null
R8192:Slc26a3 UTSW 12 31468542 missense probably benign 0.05
R8327:Slc26a3 UTSW 12 31466431 missense possibly damaging 0.81
R8371:Slc26a3 UTSW 12 31452542 missense probably damaging 1.00
Posted On2013-11-11