Incidental Mutation 'R0037:Slc20a1'
ID15716
Institutional Source Beutler Lab
Gene Symbol Slc20a1
Ensembl Gene ENSMUSG00000027397
Gene Namesolute carrier family 20, member 1
SynonymsPiT-1, Glvr1, Glvr-1
MMRRC Submission 038331-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0037 (G1)
Quality Score
Status Validated
Chromosome2
Chromosomal Location129198764-129211616 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 129210772 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 658 (V658A)
Ref Sequence ENSEMBL: ENSMUSP00000105944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028880] [ENSMUST00000110315]
Predicted Effect probably damaging
Transcript: ENSMUST00000028880
AA Change: V658A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028880
Gene: ENSMUSG00000027397
AA Change: V658A

DomainStartEndE-ValueType
Pfam:PHO4 43 667 1.8e-162 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110315
AA Change: V658A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105944
Gene: ENSMUSG00000027397
AA Change: V658A

DomainStartEndE-ValueType
Pfam:PHO4 43 667 1.3e-132 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144025
Meta Mutation Damage Score 0.274 question?
Coding Region Coverage
  • 1x: 81.5%
  • 3x: 73.9%
  • 10x: 52.8%
  • 20x: 32.9%
Validation Efficiency 94% (83/88)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a sodium-phosphate symporter that absorbs phosphate from interstitial fluid for use in cellular functions such as metabolism, signal transduction, and nucleic acid and lipid synthesis. The encoded protein is also a retroviral receptor, causing human cells to be susceptible to infection by gibbon ape leukemia virus, simian sarcoma-associated virus, feline leukemia virus subgroup B, and 10A1 murine leukemia virus.[provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit mid-gestation lethality associated with abnormal vitelline vasculature, growth retardation, and anemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars G A 8: 111,043,259 R330Q possibly damaging Het
Amph A T 13: 19,100,653 S250C possibly damaging Het
Ankrd61 T C 5: 143,894,977 N3S probably damaging Het
Camsap2 C T 1: 136,281,892 E621K probably damaging Het
Cpt2 A G 4: 107,907,974 S152P probably damaging Het
Csmd1 T A 8: 15,917,248 Q3205L probably damaging Het
Dag1 G T 9: 108,207,353 P863Q probably damaging Het
Dclk1 A G 3: 55,256,059 I191V probably benign Het
Ddhd1 A G 14: 45,610,510 L567P probably damaging Het
Enox1 T C 14: 77,699,310 probably benign Het
Exoc3 T C 13: 74,199,539 E104G probably damaging Het
Foxp1 T A 6: 99,162,969 Q17L probably damaging Het
Fscn1 A G 5: 142,970,694 probably benign Het
Fut8 T C 12: 77,365,037 V91A probably benign Het
Gm5475 T A 15: 100,424,202 Y77* probably null Het
Gm5800 T C 14: 51,716,148 probably benign Het
Hs2st1 T A 3: 144,437,644 K213* probably null Het
Il5ra T A 6: 106,742,686 Y62F probably damaging Het
Inpp5d A G 1: 87,708,129 E734G probably damaging Het
Insig2 A T 1: 121,306,920 C194S probably damaging Het
Lemd3 A C 10: 120,925,456 H898Q possibly damaging Het
Lrp4 A G 2: 91,471,203 T43A probably benign Het
Mast3 C T 8: 70,783,699 probably null Het
Melk T C 4: 44,360,864 probably benign Het
Myo10 C T 15: 25,666,532 probably benign Het
Nlrc5 G A 8: 94,489,535 V967M probably benign Het
Nlrp9b T A 7: 20,023,722 F295I probably damaging Het
Phf3 A T 1: 30,804,918 D1653E probably benign Het
Ppfia4 A T 1: 134,324,089 L449Q probably damaging Het
Ppp1r16b T A 2: 158,757,209 I367N probably damaging Het
Ralgapb T C 2: 158,437,411 L139S probably damaging Het
Son C A 16: 91,664,728 A347E probably damaging Het
Tprgl C A 4: 154,160,137 V134L possibly damaging Het
Trim24 A T 6: 37,957,549 N733I probably damaging Het
Uggt1 A T 1: 36,185,932 D540E probably benign Het
Urb2 T A 8: 124,047,195 F1488L probably damaging Het
Utp20 T C 10: 88,798,404 D810G probably benign Het
Zfp473 T A 7: 44,733,900 K335N probably damaging Het
Other mutations in Slc20a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01590:Slc20a1 APN 2 129209226 splice site probably benign
IGL02563:Slc20a1 APN 2 129207684 missense probably benign
R0514:Slc20a1 UTSW 2 129199891 missense probably damaging 1.00
R1221:Slc20a1 UTSW 2 129208404 missense probably benign 0.44
R2099:Slc20a1 UTSW 2 129207838 missense probably benign 0.00
R2122:Slc20a1 UTSW 2 129199819 missense possibly damaging 0.86
R2261:Slc20a1 UTSW 2 129206474 missense possibly damaging 0.85
R2426:Slc20a1 UTSW 2 129208230 missense probably benign 0.13
R3428:Slc20a1 UTSW 2 129200282 missense probably benign
R4712:Slc20a1 UTSW 2 129199691 splice site probably benign
R4981:Slc20a1 UTSW 2 129199999 missense probably damaging 1.00
R5213:Slc20a1 UTSW 2 129200509 missense probably damaging 1.00
R5395:Slc20a1 UTSW 2 129208337 missense probably damaging 1.00
R5506:Slc20a1 UTSW 2 129210819 missense probably benign 0.00
R6255:Slc20a1 UTSW 2 129208004 missense probably damaging 0.99
R6266:Slc20a1 UTSW 2 129209894 missense possibly damaging 0.78
R7022:Slc20a1 UTSW 2 129200059 missense probably damaging 0.99
R7091:Slc20a1 UTSW 2 129208272 missense possibly damaging 0.85
R7175:Slc20a1 UTSW 2 129210742 missense probably damaging 1.00
R7250:Slc20a1 UTSW 2 129209924 missense possibly damaging 0.78
X0067:Slc20a1 UTSW 2 129199888 missense probably damaging 1.00
Posted On2012-12-21