Incidental Mutation 'IGL02563:Slc20a1'
ID298745
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc20a1
Ensembl Gene ENSMUSG00000027397
Gene Namesolute carrier family 20, member 1
SynonymsPiT-1, Glvr1, Glvr-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02563
Quality Score
Status
Chromosome2
Chromosomal Location129198764-129211616 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129207684 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 289 (T289A)
Ref Sequence ENSEMBL: ENSMUSP00000105944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028880] [ENSMUST00000110315]
Predicted Effect probably benign
Transcript: ENSMUST00000028880
AA Change: T289A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028880
Gene: ENSMUSG00000027397
AA Change: T289A

DomainStartEndE-ValueType
Pfam:PHO4 43 667 1.8e-162 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110315
AA Change: T289A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105944
Gene: ENSMUSG00000027397
AA Change: T289A

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: ENSMUST00000141285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144025
Coding Region Coverage
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A T 2: 35,380,398 V97E probably damaging Het
9530053A07Rik G A 7: 28,157,892 E2222K probably benign Het
Abhd16a C T 17: 35,101,245 T362M probably damaging Het
Adam23 T G 1: 63,567,977 probably benign Het
Apeh C A 9: 108,093,709 R87L possibly damaging Het
Arid3a T A 10: 79,950,883 M490K probably damaging Het
Atp6v1b1 T A 6: 83,755,451 V251D probably benign Het
Cog8 C T 8: 107,056,423 R78Q possibly damaging Het
Cyld T C 8: 88,735,894 I701T probably damaging Het
Dmgdh A G 13: 93,674,539 probably benign Het
Dnm1 T C 2: 32,315,919 probably null Het
Dopey2 T A 16: 93,777,405 V2D probably damaging Het
Dusp22 A T 13: 30,705,645 S70C possibly damaging Het
Dync2h1 T C 9: 7,035,700 Q3415R possibly damaging Het
Dysf T C 6: 84,186,516 probably benign Het
Fam114a1 G A 5: 65,006,148 probably null Het
Fam20a T A 11: 109,677,794 Q302L possibly damaging Het
Fancm T A 12: 65,092,462 L374H probably damaging Het
Fgf17 G A 14: 70,636,738 Q204* probably null Het
Gap43 T C 16: 42,292,132 T89A probably benign Het
Gm5069 A G 1: 180,327,899 probably benign Het
Gm9913 C T 2: 125,506,334 probably benign Het
Gpr174 T C X: 107,293,248 L222P probably benign Het
Grid2 A T 6: 64,345,873 Q619L possibly damaging Het
Hoxc13 A G 15: 102,921,798 D204G possibly damaging Het
Itgav T C 2: 83,771,236 V317A probably benign Het
Keg1 A T 19: 12,719,157 N288I probably damaging Het
Ksr1 C T 11: 79,044,858 V234I possibly damaging Het
Lrp1 T A 10: 127,551,686 D3365V probably damaging Het
Luc7l3 A T 11: 94,300,068 probably null Het
Mta2 T C 19: 8,948,051 I348T probably benign Het
Nphp4 A G 4: 152,556,220 I1015V probably benign Het
Nup214 C T 2: 31,977,860 S113F probably damaging Het
Olfr1303 T C 2: 111,813,817 K303R probably benign Het
Pabpn1l T A 8: 122,620,383 T228S probably damaging Het
Paxx T C 2: 25,459,662 *206W probably null Het
Pcdhb10 A G 18: 37,413,073 T401A probably benign Het
Ppp1r3a A C 6: 14,719,762 D384E probably benign Het
Rif1 T C 2: 52,077,065 V122A probably damaging Het
Scn4b T C 9: 45,146,682 L24P probably damaging Het
Sec22c T C 9: 121,684,650 probably benign Het
Sh3rf2 A G 18: 42,156,142 D676G probably damaging Het
Tekt2 T C 4: 126,324,625 D84G possibly damaging Het
Tgfbr2 T A 9: 116,129,998 N116I probably benign Het
Tmem196 A G 12: 119,946,474 M1V probably null Het
Tnn A G 1: 160,114,553 V1125A probably damaging Het
Vmn2r51 A T 7: 10,100,316 M265K probably benign Het
Zfp319 T C 8: 95,323,734 probably benign Het
Zfp65 A T 13: 67,708,065 V365E possibly damaging Het
Zp3 T A 5: 135,987,610 probably null Het
Other mutations in Slc20a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01590:Slc20a1 APN 2 129209226 splice site probably benign
R0037:Slc20a1 UTSW 2 129210772 missense probably damaging 1.00
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 On2015-04-16