Incidental Mutation 'R5395:Slc20a1'
ID 426099
Institutional Source Beutler Lab
Gene Symbol Slc20a1
Ensembl Gene ENSMUSG00000027397
Gene Name solute carrier family 20, member 1
Synonyms Glvr1, PiT-1, Glvr-1
MMRRC Submission 042967-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5395 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 129040684-129053536 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129050257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 472 (N472Y)
Ref Sequence ENSEMBL: ENSMUSP00000105944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028880] [ENSMUST00000110315]
AlphaFold Q61609
Predicted Effect probably damaging
Transcript: ENSMUST00000028880
AA Change: N472Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028880
Gene: ENSMUSG00000027397
AA Change: N472Y

DomainStartEndE-ValueType
Pfam:PHO4 43 667 1.8e-162 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110315
AA Change: N472Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105944
Gene: ENSMUSG00000027397
AA Change: N472Y

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,874,590 (GRCm39) I268V probably benign Het
Actn1 T A 12: 80,217,477 (GRCm39) I782F probably benign Het
Adamdec1 A C 14: 68,808,352 (GRCm39) S333A probably benign Het
Agbl5 C A 5: 31,047,682 (GRCm39) T58N probably damaging Het
Apoo-ps T A 13: 107,550,993 (GRCm39) noncoding transcript Het
Arhgef10l T C 4: 140,297,601 (GRCm39) N277S probably benign Het
Ascc2 A G 11: 4,609,273 (GRCm39) E241G possibly damaging Het
Atp13a4 A T 16: 29,239,706 (GRCm39) Y835* probably null Het
Atp13a4 A G 16: 29,275,422 (GRCm39) V354A possibly damaging Het
Bcas3 T C 11: 85,716,075 (GRCm39) S426P probably damaging Het
Birc2 T C 9: 7,861,175 (GRCm39) R48G probably damaging Het
Cacna2d4 T C 6: 119,248,379 (GRCm39) S397P possibly damaging Het
Ccng2 T C 5: 93,417,257 (GRCm39) M91T possibly damaging Het
Clk3 G A 9: 57,660,622 (GRCm39) T473M probably damaging Het
Cog2 T A 8: 125,271,960 (GRCm39) H491Q probably benign Het
Cyp4f40 C T 17: 32,888,827 (GRCm39) T202I probably benign Het
Dennd1a A T 2: 37,692,140 (GRCm39) F181I probably damaging Het
Fcrl6 G T 1: 172,426,287 (GRCm39) A170D possibly damaging Het
Fev T C 1: 74,921,823 (GRCm39) probably null Het
Flnb A G 14: 7,883,881 (GRCm38) N369S probably benign Het
Flt3 A G 5: 147,291,633 (GRCm39) F606L probably damaging Het
Gdf9 T C 11: 53,324,624 (GRCm39) V131A probably benign Het
Gdnf T A 15: 7,864,165 (GRCm39) L192Q probably damaging Het
Gjc2 A T 11: 59,068,315 (GRCm39) C56S possibly damaging Het
Gli3 T C 13: 15,889,535 (GRCm39) F550L probably damaging Het
Gm1110 T C 9: 26,800,928 (GRCm39) E422G probably benign Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Gnb2 A G 5: 137,526,788 (GRCm39) S334P probably damaging Het
Icam2 A T 11: 106,273,299 (GRCm39) probably null Het
Inca1 C T 11: 70,581,264 (GRCm39) probably null Het
Itgb8 A C 12: 119,134,476 (GRCm39) C530W probably damaging Het
Lrp1 T C 10: 127,431,166 (GRCm39) D332G probably damaging Het
Ly75 A T 2: 60,195,455 (GRCm39) N234K probably benign Het
Mcm5 G A 8: 75,849,654 (GRCm39) S542N probably benign Het
Mcm9 A T 10: 53,414,788 (GRCm39) N97K possibly damaging Het
Morc2a G A 11: 3,638,232 (GRCm39) R986H possibly damaging Het
Neu2 T A 1: 87,524,397 (GRCm39) probably null Het
Nfatc1 G A 18: 80,679,235 (GRCm39) P718S possibly damaging Het
Nol6 G A 4: 41,118,392 (GRCm39) probably benign Het
Or10j7 A T 1: 173,011,247 (GRCm39) Y251* probably null Het
Otogl T C 10: 107,652,999 (GRCm39) N1118D probably benign Het
Pcdh15 T A 10: 74,021,119 (GRCm39) I111K probably damaging Het
Phkb A G 8: 86,744,097 (GRCm39) D582G probably damaging Het
Piwil2 G T 14: 70,632,846 (GRCm39) N575K probably benign Het
Pou4f2 T A 8: 79,161,701 (GRCm39) I301F probably damaging Het
Prkd1 T C 12: 50,438,215 (GRCm39) N409S probably damaging Het
Ptpn21 T G 12: 98,681,376 (GRCm39) K86T probably damaging Het
Raly T A 2: 154,705,927 (GRCm39) probably null Het
Rangap1 A G 15: 81,590,647 (GRCm39) F482L probably benign Het
Rapgef1 T A 2: 29,627,977 (GRCm39) N1052K probably damaging Het
Rnf169 A T 7: 99,584,367 (GRCm39) probably null Het
Sdr16c5 T C 4: 4,016,277 (GRCm39) S50G probably benign Het
Sin3a G A 9: 57,012,957 (GRCm39) R612H probably damaging Het
Six6 T A 12: 72,988,475 (GRCm39) L216* probably null Het
Slc35d1 C T 4: 103,068,572 (GRCm39) probably null Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slc7a8 C A 14: 54,970,734 (GRCm39) G306* probably null Het
Slc9a8 T A 2: 167,309,642 (GRCm39) F335L probably damaging Het
Smyd1 T G 6: 71,196,374 (GRCm39) K338T possibly damaging Het
Snd1 T A 6: 28,526,183 (GRCm39) V187E probably damaging Het
Spag9 T G 11: 93,982,577 (GRCm39) probably null Het
Tnfsf9 C A 17: 57,412,592 (GRCm39) T54K probably benign Het
Trim24 T G 6: 37,934,679 (GRCm39) V798G probably damaging Het
Tyr C A 7: 87,121,698 (GRCm39) A365S probably damaging Het
Usp43 T A 11: 67,788,184 (GRCm39) probably null Het
Vmn2r55 T C 7: 12,385,874 (GRCm39) D702G probably damaging Het
Vmn2r72 A G 7: 85,400,105 (GRCm39) S315P possibly damaging Het
Wdr64 T A 1: 175,583,164 (GRCm39) F367I probably damaging Het
Zc3h7b G A 15: 81,656,702 (GRCm39) R173K possibly damaging Het
Zfp493 T A 13: 67,931,965 (GRCm39) C21* probably null Het
Zfp825 T C 13: 74,628,665 (GRCm39) T284A possibly damaging Het
Zpbp2 T A 11: 98,449,039 (GRCm39) V275D probably damaging Het
Other mutations in Slc20a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01590:Slc20a1 APN 2 129,051,146 (GRCm39) splice site probably benign
IGL02563:Slc20a1 APN 2 129,049,604 (GRCm39) missense probably benign
R0037:Slc20a1 UTSW 2 129,052,692 (GRCm39) missense probably damaging 1.00
R0514:Slc20a1 UTSW 2 129,041,811 (GRCm39) missense probably damaging 1.00
R1221:Slc20a1 UTSW 2 129,050,324 (GRCm39) missense probably benign 0.44
R2099:Slc20a1 UTSW 2 129,049,758 (GRCm39) missense probably benign 0.00
R2122:Slc20a1 UTSW 2 129,041,739 (GRCm39) missense possibly damaging 0.86
R2261:Slc20a1 UTSW 2 129,048,394 (GRCm39) missense possibly damaging 0.85
R2426:Slc20a1 UTSW 2 129,050,150 (GRCm39) missense probably benign 0.13
R3428:Slc20a1 UTSW 2 129,042,202 (GRCm39) missense probably benign
R4712:Slc20a1 UTSW 2 129,041,611 (GRCm39) splice site probably benign
R4981:Slc20a1 UTSW 2 129,041,919 (GRCm39) missense probably damaging 1.00
R5213:Slc20a1 UTSW 2 129,042,429 (GRCm39) missense probably damaging 1.00
R5506:Slc20a1 UTSW 2 129,052,739 (GRCm39) missense probably benign 0.00
R6255:Slc20a1 UTSW 2 129,049,924 (GRCm39) missense probably damaging 0.99
R6266:Slc20a1 UTSW 2 129,051,814 (GRCm39) missense possibly damaging 0.78
R7022:Slc20a1 UTSW 2 129,041,979 (GRCm39) missense probably damaging 0.99
R7091:Slc20a1 UTSW 2 129,050,192 (GRCm39) missense possibly damaging 0.85
R7175:Slc20a1 UTSW 2 129,052,662 (GRCm39) missense probably damaging 1.00
R7250:Slc20a1 UTSW 2 129,051,844 (GRCm39) missense possibly damaging 0.78
R7914:Slc20a1 UTSW 2 129,049,757 (GRCm39) missense probably benign 0.01
R7915:Slc20a1 UTSW 2 129,049,757 (GRCm39) missense probably benign 0.01
R7916:Slc20a1 UTSW 2 129,049,757 (GRCm39) missense probably benign 0.01
R7919:Slc20a1 UTSW 2 129,049,757 (GRCm39) missense probably benign 0.01
R8051:Slc20a1 UTSW 2 129,050,120 (GRCm39) missense possibly damaging 0.92
R8098:Slc20a1 UTSW 2 129,051,041 (GRCm39) missense probably damaging 1.00
R8181:Slc20a1 UTSW 2 129,051,047 (GRCm39) missense probably damaging 1.00
R8420:Slc20a1 UTSW 2 129,041,784 (GRCm39) missense probably damaging 1.00
R9124:Slc20a1 UTSW 2 129,051,142 (GRCm39) missense probably damaging 1.00
R9532:Slc20a1 UTSW 2 129,041,933 (GRCm39) missense probably damaging 1.00
X0067:Slc20a1 UTSW 2 129,041,808 (GRCm39) missense probably damaging 1.00
Z1176:Slc20a1 UTSW 2 129,046,020 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- GCTCCATAAGTTACATCTGGCC -3'
(R):5'- AAGCAGGCTGTAAGGATCTGC -3'

Sequencing Primer
(F):5'- GGACAAGCCCTTGAGACG -3'
(R):5'- GCTGTAAGGATCTGCAGGAAC -3'
Posted On 2016-08-04