Incidental Mutation 'R7091:Slc20a1'
ID550194
Institutional Source Beutler Lab
Gene Symbol Slc20a1
Ensembl Gene ENSMUSG00000027397
Gene Namesolute carrier family 20, member 1
SynonymsPiT-1, Glvr1, Glvr-1
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7091 (G1)
Quality Score225.009
Status Validated
Chromosome2
Chromosomal Location129198764-129211616 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 129208272 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 450 (T450M)
Ref Sequence ENSEMBL: ENSMUSP00000028880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028880] [ENSMUST00000110315]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028880
AA Change: T450M

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028880
Gene: ENSMUSG00000027397
AA Change: T450M

DomainStartEndE-ValueType
Pfam:PHO4 43 667 1.8e-162 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110315
AA Change: T450M

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105944
Gene: ENSMUSG00000027397
AA Change: T450M

DomainStartEndE-ValueType
Pfam:PHO4 43 667 1.3e-132 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (56/57)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130019O22Rik C A 7: 127,384,362 A523S possibly damaging Het
Abhd18 A C 3: 40,916,738 I111L probably damaging Het
Ank1 A G 8: 23,058,663 D11G probably benign Het
Ank2 G T 3: 127,023,351 Q472K probably damaging Het
Apbb2 A T 5: 66,313,334 L520H probably damaging Het
Baat T C 4: 49,499,692 K205E probably benign Het
Brca1 T A 11: 101,526,427 M294L probably benign Het
Capn1 A G 19: 5,991,556 M641T possibly damaging Het
Cluap1 T A 16: 3,940,806 D377E probably benign Het
Col6a2 C T 10: 76,615,091 V39I unknown Het
Crybg3 T A 16: 59,557,168 D1241V possibly damaging Het
Dnah10 A G 5: 124,816,142 K3380R probably benign Het
Eml5 T C 12: 98,802,474 I1400M probably benign Het
Fancd2 A G 6: 113,545,101 D219G probably damaging Het
Fras1 A G 5: 96,708,676 S1973G probably benign Het
Fsd1 G A 17: 55,993,876 R245H probably damaging Het
G3bp1 T A 11: 55,496,221 H271Q possibly damaging Het
Glce A G 9: 62,060,588 V427A probably damaging Het
Gm4778 T C 3: 94,266,638 F314L probably damaging Het
Gm5141 T C 13: 62,773,964 T464A possibly damaging Het
Gulp1 T A 1: 44,766,134 F128I probably damaging Het
H2-Bl T C 17: 36,083,941 E30G possibly damaging Het
Hcrtr1 A C 4: 130,130,914 L393W probably damaging Het
Heg1 T C 16: 33,726,720 S650P probably benign Het
Hspa4l T A 3: 40,781,592 N569K probably benign Het
Ifi206 A G 1: 173,473,875 F746L unknown Het
Ivl T C 3: 92,572,242 D172G possibly damaging Het
Lrp5 A T 19: 3,630,184 D433E probably damaging Het
Mgam T C 6: 40,768,276 S1826P possibly damaging Het
Ms4a18 A T 19: 11,008,728 L206M probably damaging Het
Msln A T 17: 25,750,080 C444S probably damaging Het
Mta1 A G 12: 113,136,402 D644G probably damaging Het
Muc5ac G C 7: 141,809,687 probably benign Het
Naa15 T C 3: 51,458,756 probably null Het
Nadk A G 4: 155,587,758 H302R probably benign Het
Neb T A 2: 52,256,112 N15I Het
Nup153 A T 13: 46,683,928 S1273T probably benign Het
Ofcc1 A G 13: 40,072,767 I763T probably damaging Het
Olfr142 T C 2: 90,252,463 Y175C probably damaging Het
Oxsr1 T C 9: 119,284,661 I107V probably benign Het
Prmt5 A G 14: 54,511,342 probably null Het
Ptk2 G A 15: 73,221,809 P854S possibly damaging Het
Ranbp6 A G 19: 29,812,716 S79P probably damaging Het
Reln T C 5: 21,899,029 I3315V probably null Het
Rnf223 T C 4: 156,132,699 V177A probably benign Het
Smg5 C T 3: 88,351,347 P542S probably benign Het
Sorl1 T A 9: 42,002,634 Q1333L probably benign Het
Spag5 T A 11: 78,313,191 probably null Het
Tdp2 T A 13: 24,838,224 F209I probably damaging Het
Tgm4 C A 9: 123,040,460 L35M probably damaging Het
Tma7 A G 9: 109,082,512 probably benign Het
Tmprss4 A T 9: 45,184,273 V91D probably damaging Het
Tnfsf4 T A 1: 161,395,697 M39K probably benign Het
Ttn T A 2: 76,713,568 T33025S probably benign Het
Tut1 A G 19: 8,965,811 H754R probably benign Het
Vmn2r27 T G 6: 124,223,945 Q351P possibly damaging Het
Wee2 G T 6: 40,462,002 G353V probably benign Het
Zfp879 T A 11: 50,833,395 H278L 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
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
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
Predicted Primers PCR Primer
(F):5'- CTGCTCCATAAGTTACATCTGGC -3'
(R):5'- AGGCTGTAAGGATCTGCAGG -3'

Sequencing Primer
(F):5'- TCCATAAGTTACATCTGGCCAAGG -3'
(R):5'- AGGGACACTTCAGGCTTATCC -3'
Posted On2019-05-15