Incidental Mutation 'R3964:Slc50a1'
ID 312236
Institutional Source Beutler Lab
Gene Symbol Slc50a1
Ensembl Gene ENSMUSG00000027953
Gene Name solute carrier family 50 (sugar transporter), member 1
Synonyms Rag1ap1, Rga
MMRRC Submission 040933-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3964 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 89175553-89177877 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89176093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 151 (I151V)
Ref Sequence ENSEMBL: ENSMUSP00000029565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029565] [ENSMUST00000029566] [ENSMUST00000040824] [ENSMUST00000107460] [ENSMUST00000107462] [ENSMUST00000118587] [ENSMUST00000185119] [ENSMUST00000130230] [ENSMUST00000118860]
AlphaFold Q9CXK4
Predicted Effect probably benign
Transcript: ENSMUST00000029565
AA Change: I151V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029565
Gene: ENSMUSG00000027953
AA Change: I151V

DomainStartEndE-ValueType
Pfam:MtN3_slv 9 95 2.3e-32 PFAM
transmembrane domain 96 118 N/A INTRINSIC
Pfam:MtN3_slv 127 213 7e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000029566
SMART Domains Protein: ENSMUSP00000029566
Gene: ENSMUSG00000027954

DomainStartEndE-ValueType
Pfam:Ephrin 18 147 1.2e-45 PFAM
low complexity region 187 202 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000040824
SMART Domains Protein: ENSMUSP00000040860
Gene: ENSMUSG00000042737

DomainStartEndE-ValueType
Pfam:DPM3 1 92 2.3e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107460
AA Change: I97V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103084
Gene: ENSMUSG00000027953
AA Change: I97V

DomainStartEndE-ValueType
Pfam:MtN3_slv 9 95 4.5e-33 PFAM
Pfam:MtN3_slv 92 159 6.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107462
SMART Domains Protein: ENSMUSP00000103086
Gene: ENSMUSG00000042737

DomainStartEndE-ValueType
Pfam:DPM3 1 91 3.7e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118587
SMART Domains Protein: ENSMUSP00000112904
Gene: ENSMUSG00000027954

DomainStartEndE-ValueType
Pfam:Ephrin 1 90 2.2e-34 PFAM
low complexity region 124 139 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137975
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130690
Predicted Effect probably benign
Transcript: ENSMUST00000185119
SMART Domains Protein: ENSMUSP00000139128
Gene: ENSMUSG00000027953

DomainStartEndE-ValueType
Pfam:MtN3_slv 9 74 1.6e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130230
SMART Domains Protein: ENSMUSP00000123276
Gene: ENSMUSG00000027953

DomainStartEndE-ValueType
Pfam:MtN3_slv 1 63 1.7e-23 PFAM
transmembrane domain 64 86 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118860
SMART Domains Protein: ENSMUSP00000113098
Gene: ENSMUSG00000027954

DomainStartEndE-ValueType
Pfam:Ephrin 15 153 1.4e-58 PFAM
low complexity region 165 180 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (64/65)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 C A 12: 81,607,583 (GRCm39) A60S possibly damaging Het
Arpp21 C G 9: 111,894,844 (GRCm39) V805L probably damaging Het
C1galt1c1 A T X: 37,720,453 (GRCm39) V181E probably benign Het
Cdh18 A T 15: 23,474,187 (GRCm39) T686S probably benign Het
Cemip T A 7: 83,600,717 (GRCm39) Y968F probably benign Het
Cep70 T A 9: 99,180,587 (GRCm39) F581I probably damaging Het
Ctc1 T A 11: 68,921,954 (GRCm39) V800D probably damaging Het
Cttnbp2nl T C 3: 104,913,321 (GRCm39) K188E probably damaging Het
Cux1 A G 5: 136,311,796 (GRCm39) V1180A probably damaging Het
Cux2 G T 5: 122,025,539 (GRCm39) S43* probably null Het
Dhx57 T A 17: 80,572,541 (GRCm39) K711* probably null Het
Ehbp1l1 C T 19: 5,760,601 (GRCm39) probably null Het
Esyt3 T A 9: 99,202,375 (GRCm39) D512V probably damaging Het
Gadl1 T C 9: 115,794,676 (GRCm39) S284P probably damaging Het
Gm14137 T A 2: 119,005,497 (GRCm39) S19T probably benign Het
Gpr141b A G 13: 19,913,614 (GRCm39) noncoding transcript Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Gsdmc2 A G 15: 63,721,683 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,449,320 (GRCm39) T110A probably benign Het
Il23r G A 6: 67,443,281 (GRCm39) T274I probably benign Het
Inhbb C A 1: 119,345,291 (GRCm39) G333W probably damaging Het
Kcnb1 C T 2: 166,946,412 (GRCm39) C812Y probably damaging Het
Lrp1b A G 2: 41,202,482 (GRCm39) probably benign Het
Med31 C T 11: 72,102,755 (GRCm39) A118T probably benign Het
Mov10l1 A G 15: 88,896,366 (GRCm39) I737V probably benign Het
Mrs2 A G 13: 25,185,746 (GRCm39) I142T possibly damaging Het
Ms4a6b T C 19: 11,499,098 (GRCm39) S71P probably benign Het
Muc2 G A 7: 141,286,233 (GRCm39) R120H probably benign Het
Muc5b A T 7: 141,420,705 (GRCm39) I4191F possibly damaging Het
Myrf T C 19: 10,196,979 (GRCm39) E267G probably benign Het
Nfatc2 C T 2: 168,346,469 (GRCm39) S875N probably benign Het
Nmi T C 2: 51,846,081 (GRCm39) E67G possibly damaging Het
Nrap T C 19: 56,330,576 (GRCm39) S1126G probably damaging Het
Nucb2 A G 7: 116,128,110 (GRCm39) E273G probably damaging Het
Or10g9 A T 9: 39,911,767 (GRCm39) V252E possibly damaging Het
Or1j4 A G 2: 36,740,729 (GRCm39) T224A probably benign Het
Or8b1b T C 9: 38,375,979 (GRCm39) I214T probably benign Het
Or8b51 G A 9: 38,569,023 (GRCm39) L222F probably benign Het
Pcdhga12 A T 18: 37,900,254 (GRCm39) Q362L probably benign Het
Peak1 C T 9: 56,167,263 (GRCm39) E222K probably damaging Het
Pik3r1 T C 13: 101,825,193 (GRCm39) E458G possibly damaging Het
Pls1 T C 9: 95,667,665 (GRCm39) Q81R probably benign Het
Plxdc2 T A 2: 16,665,651 (GRCm39) F284I probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pole A G 5: 110,460,648 (GRCm39) K1143E probably damaging Het
Ppfia4 A T 1: 134,250,754 (GRCm39) D478E probably benign Het
Ptprd A G 4: 75,978,073 (GRCm39) probably benign Het
Ptprj A G 2: 90,298,785 (GRCm39) I315T probably benign Het
Rims1 T C 1: 22,497,709 (GRCm39) probably null Het
Rnf13 G A 3: 57,676,533 (GRCm39) G63S probably damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Shld2 T A 14: 33,981,644 (GRCm39) Q498L probably damaging Het
Snx27 T A 3: 94,438,613 (GRCm39) R207S probably damaging Het
Sos1 C T 17: 80,762,608 (GRCm39) R73H probably damaging Het
Tbc1d9b A G 11: 50,059,523 (GRCm39) E975G possibly damaging Het
Tbccd1 A G 16: 22,660,523 (GRCm39) S98P probably damaging Het
Timd5 T A 11: 46,426,340 (GRCm39) V149D possibly damaging Het
Tmx4 T C 2: 134,441,981 (GRCm39) I206V possibly damaging Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Usp19 T A 9: 108,375,228 (GRCm39) V818E probably damaging Het
Wdr38 A G 2: 38,889,362 (GRCm39) Y51C probably damaging Het
Zfp456 T C 13: 67,514,900 (GRCm39) T269A probably benign Het
Zfp628 T C 7: 4,924,744 (GRCm39) S989P probably benign Het
Other mutations in Slc50a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03406:Slc50a1 APN 3 89,177,408 (GRCm39) missense possibly damaging 0.92
R3843:Slc50a1 UTSW 3 89,177,207 (GRCm39) missense probably damaging 1.00
R5877:Slc50a1 UTSW 3 89,176,460 (GRCm39) missense probably damaging 1.00
R6716:Slc50a1 UTSW 3 89,177,214 (GRCm39) missense probably damaging 0.96
R8286:Slc50a1 UTSW 3 89,177,710 (GRCm39) splice site probably null
R8287:Slc50a1 UTSW 3 89,177,710 (GRCm39) splice site probably null
R8534:Slc50a1 UTSW 3 89,177,710 (GRCm39) splice site probably null
R9045:Slc50a1 UTSW 3 89,176,042 (GRCm39) missense probably damaging 0.98
Y4338:Slc50a1 UTSW 3 89,177,417 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- ACTTGCAGAAAAGCCCGAG -3'
(R):5'- CAGCTCTTGGAAGAAGTCAAGG -3'

Sequencing Primer
(F):5'- ATTCCTGGAAGGTTGGGCAC -3'
(R):5'- CTCTTGGAAGAAGTCAAGGTAGCAG -3'
Posted On 2015-04-29