Incidental Mutation 'R3894:Slc26a3'
ID 310462
Institutional Source Beutler Lab
Gene Symbol Slc26a3
Ensembl Gene ENSMUSG00000001225
Gene Name solute carrier family 26, member 3
Synonyms 9130013M11Rik, 9030623B18Rik, Dra
Accession Numbers
Essential gene? Probably essential (E-score: 0.770) question?
Stock # R3894 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 31483141-31523921 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 31514719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 513 (Y513S)
Ref Sequence ENSEMBL: ENSMUSP00000001254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001254] [ENSMUST00000171616]
AlphaFold Q9WVC8
Predicted Effect probably damaging
Transcript: ENSMUST00000001254
AA Change: Y513S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000001254
Gene: ENSMUSG00000001225
AA Change: Y513S

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: ENSMUST00000171616
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1s1 A G 7: 44,503,363 (GRCm39) D180G probably damaging Het
Aldh1a7 A T 19: 20,673,762 (GRCm39) Y457* probably null Het
Alpk3 C T 7: 80,728,138 (GRCm39) P423S possibly damaging Het
Aox1 A T 1: 58,373,837 (GRCm39) probably null Het
Crebbp T C 16: 3,913,966 (GRCm39) T1316A probably benign Het
Cul3 C A 1: 80,261,407 (GRCm39) V273F probably damaging Het
Dnah1 G T 14: 31,028,985 (GRCm39) R582S probably benign Het
Fbxl2 T C 9: 113,832,261 (GRCm39) N51S probably damaging Het
Gapvd1 T C 2: 34,618,488 (GRCm39) D295G probably benign Het
Gdf7 A G 12: 8,348,845 (GRCm39) S151P unknown Het
Gm10277 T C 11: 77,676,827 (GRCm39) probably benign Het
Hdac4 T C 1: 91,898,690 (GRCm39) E688G possibly damaging Het
Htr1d A G 4: 136,170,548 (GRCm39) E259G probably benign Het
Ifi204 T C 1: 173,576,774 (GRCm39) H609R possibly damaging Het
Ift80 T C 3: 68,825,332 (GRCm39) D541G probably damaging Het
Il18r1 A T 1: 40,514,034 (GRCm39) H80L possibly damaging Het
Lrp4 G A 2: 91,304,294 (GRCm39) G158S probably damaging Het
Mesd T A 7: 83,546,993 (GRCm39) L152H probably damaging Het
Mmut G A 17: 41,266,030 (GRCm39) C531Y probably damaging Het
Morf4l1 A T 9: 89,976,501 (GRCm39) F276I possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myo15a A G 11: 60,395,145 (GRCm39) T2480A probably benign Het
Or2a52 A T 6: 43,144,192 (GRCm39) I67F probably benign Het
Or2y15 G A 11: 49,350,766 (GRCm39) G87R possibly damaging Het
Or4f47 T C 2: 111,972,359 (GRCm39) I23T probably benign Het
Or4g17 C A 2: 111,209,982 (GRCm39) F212L probably benign Het
Or5k16 A G 16: 58,736,702 (GRCm39) F101L probably benign Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Ovgp1 A G 3: 105,893,912 (GRCm39) probably benign Het
Pcbp4 A T 9: 106,338,570 (GRCm39) Q59L possibly damaging Het
Prg4 G C 1: 150,330,510 (GRCm39) probably benign Het
Rad50 T A 11: 53,569,697 (GRCm39) I905L probably benign Het
Rp1l1 T C 14: 64,266,756 (GRCm39) S781P probably benign Het
Rps3 C T 7: 99,129,103 (GRCm39) R173H probably benign Het
Rtn3 T A 19: 7,412,450 (GRCm39) T86S probably damaging Het
Sdha A T 13: 74,482,510 (GRCm39) S268T probably benign Het
Sgo2b A T 8: 64,381,767 (GRCm39) V355E possibly damaging Het
Sh3glb2 T C 2: 30,245,300 (GRCm39) T60A probably damaging Het
Slc35b2 T C 17: 45,877,368 (GRCm39) V165A probably benign Het
Slco3a1 A G 7: 73,934,361 (GRCm39) W604R probably damaging Het
Tet2 A G 3: 133,175,238 (GRCm39) S1370P possibly damaging Het
Tmtc4 A T 14: 123,158,731 (GRCm39) probably null Het
Tsga13 A G 6: 30,889,198 (GRCm39) V18A probably benign Het
Ugt2a3 T C 5: 87,477,449 (GRCm39) T317A probably benign Het
Zcchc4 A T 5: 52,941,442 (GRCm39) D79V probably damaging Het
Other mutations in Slc26a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01446:Slc26a3 APN 12 31,502,490 (GRCm39) splice site probably benign
IGL01717:Slc26a3 APN 12 31,513,476 (GRCm39) missense probably benign 0.11
IGL02151:Slc26a3 APN 12 31,497,830 (GRCm39) missense probably damaging 0.99
IGL02374:Slc26a3 APN 12 31,520,832 (GRCm39) splice site probably benign
IGL02445:Slc26a3 APN 12 31,507,051 (GRCm39) missense possibly damaging 0.65
IGL02526:Slc26a3 APN 12 31,507,095 (GRCm39) missense probably damaging 1.00
IGL02831:Slc26a3 APN 12 31,502,628 (GRCm39) missense probably damaging 1.00
PIT4486001:Slc26a3 UTSW 12 31,520,949 (GRCm39) missense probably benign 0.01
R0422:Slc26a3 UTSW 12 31,515,848 (GRCm39) missense possibly damaging 0.90
R0544:Slc26a3 UTSW 12 31,497,739 (GRCm39) missense probably benign
R0781:Slc26a3 UTSW 12 31,515,812 (GRCm39) missense possibly damaging 0.90
R1561:Slc26a3 UTSW 12 31,516,451 (GRCm39) missense probably benign 0.18
R1860:Slc26a3 UTSW 12 31,515,845 (GRCm39) missense probably benign
R1954:Slc26a3 UTSW 12 31,500,815 (GRCm39) missense probably damaging 0.98
R1967:Slc26a3 UTSW 12 31,515,777 (GRCm39) missense probably damaging 0.99
R2240:Slc26a3 UTSW 12 31,507,071 (GRCm39) missense probably damaging 1.00
R2508:Slc26a3 UTSW 12 31,520,902 (GRCm39) missense probably damaging 0.99
R3914:Slc26a3 UTSW 12 31,503,905 (GRCm39) missense probably benign 0.00
R3978:Slc26a3 UTSW 12 31,515,859 (GRCm39) splice site probably null
R4701:Slc26a3 UTSW 12 31,497,773 (GRCm39) missense probably damaging 1.00
R4713:Slc26a3 UTSW 12 31,507,079 (GRCm39) missense possibly damaging 0.75
R5024:Slc26a3 UTSW 12 31,503,907 (GRCm39) missense probably benign
R5058:Slc26a3 UTSW 12 31,520,964 (GRCm39) missense possibly damaging 0.66
R5168:Slc26a3 UTSW 12 31,518,553 (GRCm39) missense possibly damaging 0.81
R5361:Slc26a3 UTSW 12 31,500,980 (GRCm39) critical splice donor site probably null
R5715:Slc26a3 UTSW 12 31,498,842 (GRCm39) critical splice donor site probably null
R5951:Slc26a3 UTSW 12 31,502,714 (GRCm39) intron probably benign
R6662:Slc26a3 UTSW 12 31,507,345 (GRCm39) nonsense probably null
R6895:Slc26a3 UTSW 12 31,513,523 (GRCm39) missense probably damaging 0.96
R7069:Slc26a3 UTSW 12 31,500,934 (GRCm39) missense probably damaging 0.96
R7484:Slc26a3 UTSW 12 31,497,787 (GRCm39) missense probably benign 0.22
R7744:Slc26a3 UTSW 12 31,513,464 (GRCm39) critical splice acceptor site probably null
R8192:Slc26a3 UTSW 12 31,518,541 (GRCm39) missense probably benign 0.05
R8327:Slc26a3 UTSW 12 31,516,430 (GRCm39) missense possibly damaging 0.81
R8356:Slc26a3 UTSW 12 31,516,505 (GRCm39) missense probably benign 0.06
R8371:Slc26a3 UTSW 12 31,502,541 (GRCm39) missense probably damaging 1.00
R8550:Slc26a3 UTSW 12 31,511,739 (GRCm39) missense probably damaging 1.00
R9057:Slc26a3 UTSW 12 31,520,958 (GRCm39) missense probably benign 0.00
R9221:Slc26a3 UTSW 12 31,513,470 (GRCm39) missense possibly damaging 0.95
R9484:Slc26a3 UTSW 12 31,511,785 (GRCm39) missense probably damaging 0.98
R9746:Slc26a3 UTSW 12 31,499,145 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACACAGAGATAAGGTGTTTGCC -3'
(R):5'- AACCAATGTTTGCGAAGTAGATTGG -3'

Sequencing Primer
(F):5'- TCTAATGAGATGGAGATTCCCCC -3'
(R):5'- TTTGCGAAGTAGATTGGAGATGGAC -3'
Posted On 2015-04-17