Incidental Mutation 'R7022:Slc20a1'
ID 545672
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 045123-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7022 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 129040684-129053536 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129041979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 114 (M114K)
Ref Sequence ENSEMBL: ENSMUSP00000105944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028880] [ENSMUST00000110315] [ENSMUST00000148988]
AlphaFold Q61609
Predicted Effect probably damaging
Transcript: ENSMUST00000028880
AA Change: M114K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028880
Gene: ENSMUSG00000027397
AA Change: M114K

DomainStartEndE-ValueType
Pfam:PHO4 43 667 1.8e-162 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110315
AA Change: M114K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105944
Gene: ENSMUSG00000027397
AA Change: M114K

DomainStartEndE-ValueType
Pfam:PHO4 43 667 1.3e-132 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148988
Meta Mutation Damage Score 0.8431 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (75/75)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,974,326 (GRCm39) S203T probably damaging Het
Adat1 A T 8: 112,716,494 (GRCm39) M76K probably damaging Het
Ankrd33 G C 15: 101,014,780 (GRCm39) V56L probably benign Het
Ascc3 T A 10: 50,592,725 (GRCm39) L1134I possibly damaging Het
C3 T G 17: 57,524,286 (GRCm39) D948A probably damaging Het
Ccdc121rt3 A C 5: 112,503,395 (GRCm39) M103R probably benign Het
Ccdc40 A G 11: 119,122,612 (GRCm39) E138G possibly damaging Het
Cd80 A G 16: 38,306,866 (GRCm39) probably null Het
Cdca7 T A 2: 72,309,873 (GRCm39) probably null Het
Chit1 A G 1: 134,079,030 (GRCm39) S447G probably benign Het
Cmya5 C T 13: 93,205,786 (GRCm39) probably null Het
Cnnm2 A T 19: 46,750,989 (GRCm39) I260F probably damaging Het
Cnnm2 T A 19: 46,847,379 (GRCm39) probably null Het
Col1a2 T C 6: 4,534,639 (GRCm39) L881P unknown Het
Crebbp A T 16: 3,935,187 (GRCm39) S901T probably damaging Het
Dcun1d2 T C 8: 13,321,637 (GRCm39) Y158C probably damaging Het
Dnhd1 C T 7: 105,370,005 (GRCm39) P4477S probably benign Het
Donson A G 16: 91,478,218 (GRCm39) Y428H probably damaging Het
Dsp G T 13: 38,375,716 (GRCm39) W1167L probably benign Het
Elmo2 C T 2: 165,136,961 (GRCm39) V592M probably damaging Het
Enpp3 T A 10: 24,702,093 (GRCm39) E60D probably damaging Het
Erfl A T 7: 24,631,089 (GRCm39) probably null Het
Fam83b TAAGA T 9: 76,409,394 (GRCm39) probably null Het
Fbxo38 A G 18: 62,669,295 (GRCm39) C52R probably damaging Het
Gm10912 T C 2: 103,897,055 (GRCm39) W65R probably damaging Het
Gm43518 A T 5: 124,074,490 (GRCm39) M44L probably benign Het
Gnb1 T A 4: 155,637,913 (GRCm39) D212E probably damaging Het
Gnl1 A G 17: 36,299,620 (GRCm39) N597S probably damaging Het
Gprin1 T G 13: 54,886,855 (GRCm39) E473A probably benign Het
Ighv1-69 T A 12: 115,586,834 (GRCm39) M100L probably benign Het
Igkv14-100 T C 6: 68,496,193 (GRCm39) S29P probably damaging Het
Ints6 A G 14: 62,951,786 (GRCm39) V232A probably damaging Het
Jup A G 11: 100,270,379 (GRCm39) L376P probably damaging Het
Kdr A T 5: 76,132,920 (GRCm39) Y119* probably null Het
Kif1a T G 1: 92,993,820 (GRCm39) T377P probably benign Het
Lama5 C A 2: 179,822,524 (GRCm39) V2850L probably damaging Het
Lrp2 T C 2: 69,313,552 (GRCm39) Y2393C probably damaging Het
Mfsd13a C T 19: 46,356,763 (GRCm39) Q255* probably null Het
Msh3 A C 13: 92,372,096 (GRCm39) D891E probably damaging Het
Msl2 A G 9: 100,957,335 (GRCm39) N2D possibly damaging Het
Myo19 T C 11: 84,791,373 (GRCm39) L476P probably damaging Het
Nbeal2 G A 9: 110,467,686 (GRCm39) R501W probably damaging Het
Nfasc C A 1: 132,548,787 (GRCm39) K293N probably damaging Het
Npbwr1 A T 1: 5,987,319 (GRCm39) L65Q probably damaging Het
Nrbp1 T A 5: 31,401,825 (GRCm39) D34E probably damaging Het
Nup205 T A 6: 35,220,871 (GRCm39) V1891D probably benign Het
Or51g2 T A 7: 102,623,175 (GRCm39) N8I possibly damaging Het
Or5g29 T A 2: 85,420,942 (GRCm39) D19E probably benign Het
Or5k1b T C 16: 58,581,482 (GRCm39) N19S probably benign Het
Or8g22 G T 9: 38,958,379 (GRCm39) C156* probably null Het
Oscp1 G A 4: 125,976,783 (GRCm39) probably null Het
Pcdhgb7 A G 18: 37,886,086 (GRCm39) T419A probably damaging Het
Pdzph1 T C 17: 59,281,121 (GRCm39) D387G probably benign Het
Phc1 A G 6: 122,311,990 (GRCm39) F56S probably damaging Het
Pik3c2g A G 6: 139,599,061 (GRCm39) E59G possibly damaging Het
Prickle1 G T 15: 93,398,752 (GRCm39) T692K possibly damaging Het
Rbm45 T A 2: 76,206,738 (GRCm39) L250Q probably damaging Het
Ror1 T A 4: 100,265,108 (GRCm39) M194K probably damaging Het
Rrbp1 T A 2: 143,799,722 (GRCm39) probably null Het
Rundc3b T C 5: 8,562,348 (GRCm39) K340R probably null Het
Scn1a T A 2: 66,148,243 (GRCm39) T1101S probably damaging Het
Sdk1 C G 5: 142,080,412 (GRCm39) probably null Het
Skic2 A G 17: 35,064,183 (GRCm39) F501S possibly damaging Het
Sorl1 A C 9: 41,881,047 (GRCm39) I2158S probably benign Het
Strip1 A T 3: 107,534,111 (GRCm39) F174L probably benign Het
Sucnr1 A T 3: 59,993,699 (GRCm39) I76L probably benign Het
Syt17 C T 7: 118,007,242 (GRCm39) V412I probably benign Het
Tie1 T A 4: 118,346,850 (GRCm39) H18L probably benign Het
Tpp1 T G 7: 105,398,129 (GRCm39) K345Q probably damaging Het
Trcg1 G A 9: 57,148,852 (GRCm39) M141I possibly damaging Het
Trpc4ap T C 2: 155,499,742 (GRCm39) N260S probably benign Het
Vps41 C A 13: 19,026,438 (GRCm39) T512K possibly damaging Het
Vps52 A T 17: 34,178,293 (GRCm39) M147L probably benign Het
Ywhaq A G 12: 21,441,752 (GRCm39) probably benign Het
Zfp619 A G 7: 39,184,387 (GRCm39) N139S probably benign 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
R5395:Slc20a1 UTSW 2 129,050,257 (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
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'- TTCGTTCGGTACAGCTGTAG -3'
(R):5'- AAACCAATGGTTGCACCGAC -3'

Sequencing Primer
(F):5'- TAGGCTCAGGTGTAGTGACCC -3'
(R):5'- GTTGCACCGACAATACAATGGGTC -3'
Posted On 2019-05-13