Incidental Mutation 'R8371:Slc26a3'
ID 646405
Institutional Source Beutler Lab
Gene Symbol Slc26a3
Ensembl Gene ENSMUSG00000001225
Gene Name solute carrier family 26, member 3
Synonyms 9130013M11Rik, 9030623B18Rik, Dra
MMRRC Submission 067740-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.770) question?
Stock # R8371 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 31483141-31523921 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31502541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 254 (D254V)
Ref Sequence ENSEMBL: ENSMUSP00000001254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001254] [ENSMUST00000110854] [ENSMUST00000167432] [ENSMUST00000171616]
AlphaFold Q9WVC8
Predicted Effect probably damaging
Transcript: ENSMUST00000001254
AA Change: D254V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001254
Gene: ENSMUSG00000001225
AA Change: D254V

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 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 probably benign
Transcript: ENSMUST00000171616
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G T 11: 109,945,473 (GRCm39) Q1050K probably benign Het
B4galt5 A G 2: 167,151,145 (GRCm39) M121T probably damaging Het
Birc2 A G 9: 7,849,427 (GRCm39) L549P probably damaging Het
Cacna1b T C 2: 24,610,036 (GRCm39) N368S possibly damaging Het
Cbr1 A G 16: 93,406,779 (GRCm39) E165G probably damaging Het
Ccdc178 T C 18: 21,944,561 (GRCm39) D866G possibly damaging Het
Cd40 G A 2: 164,908,458 (GRCm39) G178E probably damaging Het
Cers1 T A 8: 70,782,223 (GRCm39) L349H probably benign Het
Chd8 T C 14: 52,470,275 (GRCm39) K445R probably benign Het
Clca3a2 G T 3: 144,513,114 (GRCm39) S477* probably null Het
Clec4a1 T A 6: 122,910,882 (GRCm39) *246R probably null Het
CN725425 T C 15: 91,124,973 (GRCm39) I171T probably benign Het
Crybg3 A G 16: 59,377,414 (GRCm39) M1280T probably benign Het
Csf1r A T 18: 61,250,663 (GRCm39) Q458L probably benign Het
Cyp3a11 A T 5: 145,805,438 (GRCm39) V193E possibly damaging Het
Cys1 A G 12: 24,718,694 (GRCm39) I53T probably benign Het
Dhrs3 A C 4: 144,645,953 (GRCm39) probably null Het
Dhx57 T C 17: 80,582,919 (GRCm39) R229G probably benign Het
Dhx9 T C 1: 153,331,961 (GRCm39) N1336D unknown Het
Dmgdh T A 13: 93,845,238 (GRCm39) H410Q probably benign Het
Dmxl1 T A 18: 50,031,781 (GRCm39) M2225K probably benign Het
Eif4g3 T G 4: 137,824,156 (GRCm39) Y80D probably damaging Het
Ephx4 A T 5: 107,561,384 (GRCm39) I164F possibly damaging Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Fhl4 G A 10: 84,934,637 (GRCm39) A48V probably benign Het
Fmn2 T C 1: 174,437,173 (GRCm39) L1048S unknown Het
Gemin5 T C 11: 58,017,384 (GRCm39) M1212V probably benign Het
Gm9195 C T 14: 72,697,899 (GRCm39) V1294I probably benign Het
Gpr55 A T 1: 85,868,849 (GRCm39) V244E probably damaging Het
Hgfac T A 5: 35,202,787 (GRCm39) F429Y probably damaging Het
Jade2 T A 11: 51,715,959 (GRCm39) E415D probably benign Het
Kcnj4 T A 15: 79,369,342 (GRCm39) I213F probably damaging Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Klhl33 C T 14: 51,129,689 (GRCm39) R312Q probably damaging Het
Krt82 T C 15: 101,453,546 (GRCm39) E280G probably benign Het
Lemd1 C A 1: 132,156,687 (GRCm39) Q40K probably damaging Het
Lmo7 T C 14: 102,124,444 (GRCm39) L423P possibly damaging Het
Lrp8 A G 4: 107,726,268 (GRCm39) Y773C probably damaging Het
Miga2 AAGAG AAG 2: 30,265,755 (GRCm39) probably null Het
Mroh8 A T 2: 157,094,896 (GRCm39) Y363* probably null Het
Or2n1c G A 17: 38,519,189 (GRCm39) A18T probably benign Het
Or51a25 C A 7: 102,372,790 (GRCm39) K302N probably damaging Het
Or5p61 G A 7: 107,758,435 (GRCm39) T215I probably benign Het
Pcdha2 T C 18: 37,073,316 (GRCm39) Y316H possibly damaging Het
Pcdha6 T A 18: 37,102,920 (GRCm39) C704* probably null Het
Pik3c2g G A 6: 139,881,782 (GRCm39) V923M unknown Het
Rhd A G 4: 134,603,694 (GRCm39) S72G probably benign Het
Rhot1 T C 11: 80,134,292 (GRCm39) L295P probably damaging Het
Rrp1b A G 17: 32,268,458 (GRCm39) E139G possibly damaging Het
Scnn1a T G 6: 125,320,806 (GRCm39) Y620D possibly damaging Het
Serpinb12 A T 1: 106,884,135 (GRCm39) I294L probably benign Het
Serpinb3d T C 1: 107,008,469 (GRCm39) D132G probably damaging Het
Srrm1 A T 4: 135,052,532 (GRCm39) I614N unknown Het
Stt3b A G 9: 115,095,243 (GRCm39) Y263H probably damaging Het
Taf7 T A 18: 37,776,552 (GRCm39) K5I probably damaging Het
Tbck C A 3: 132,458,285 (GRCm39) H638Q possibly damaging Het
Tnfsf9 A C 17: 57,412,541 (GRCm39) D37A probably benign Het
Trim71 C A 9: 114,344,857 (GRCm39) V354F probably benign Het
Tspoap1 T G 11: 87,669,127 (GRCm39) C1467G probably benign Het
Xirp1 C T 9: 119,848,499 (GRCm39) R128Q possibly damaging Het
Zc3h12d GCCC GCC 10: 7,715,735 (GRCm39) probably null Het
Zfhx2 T C 14: 55,301,549 (GRCm39) D2145G probably damaging Het
Zfy2 T C Y: 2,117,168 (GRCm39) T220A probably benign 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
R3894:Slc26a3 UTSW 12 31,514,719 (GRCm39) missense probably damaging 1.00
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
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'- TTTCAGGGCTCACAGTTGACAG -3'
(R):5'- TCACAGCAACCTGGAGTACAAG -3'

Sequencing Primer
(F):5'- TTGACAGCAGCTGAGCATC -3'
(R):5'- GGAGTACAAGACGGCTTTCTCTC -3'
Posted On 2020-09-02