Incidental Mutation 'IGL03406:Slc50a1'
ID421613
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc50a1
Ensembl Gene ENSMUSG00000027953
Gene Namesolute carrier family 50 (sugar transporter), member 1
SynonymsRag1ap1, Rga
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03406
Quality Score
Status
Chromosome3
Chromosomal Location89268246-89270570 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89270101 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 40 (D40G)
Ref Sequence ENSEMBL: ENSMUSP00000139128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029565] [ENSMUST00000029566] [ENSMUST00000040824] [ENSMUST00000107460] [ENSMUST00000107462] [ENSMUST00000118587] [ENSMUST00000118860] [ENSMUST00000130230] [ENSMUST00000185119]
Predicted Effect probably benign
Transcript: ENSMUST00000029565
AA Change: D40G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000029565
Gene: ENSMUSG00000027953
AA Change: D40G

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: D40G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000103084
Gene: ENSMUSG00000027953
AA Change: D40G

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 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
Predicted Effect possibly damaging
Transcript: ENSMUST00000130230
AA Change: D8G

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123276
Gene: ENSMUSG00000027953
AA Change: D8G

DomainStartEndE-ValueType
Pfam:MtN3_slv 1 63 1.7e-23 PFAM
transmembrane domain 64 86 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137975
Predicted Effect possibly damaging
Transcript: ENSMUST00000185119
AA Change: D40G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139128
Gene: ENSMUSG00000027953
AA Change: D40G

DomainStartEndE-ValueType
Pfam:MtN3_slv 9 74 1.6e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144777
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012P22Rik A G 4: 144,423,844 Y56H probably damaging Het
A530016L24Rik T A 12: 112,496,883 probably null Het
Adcy7 C T 8: 88,318,319 R228* probably null Het
Cdcp1 T C 9: 123,185,313 H132R probably benign Het
Cyp4a32 T C 4: 115,602,303 I78T probably benign Het
Fap A T 2: 62,542,122 probably benign Het
Gad1-ps C T 10: 99,444,779 noncoding transcript Het
Gli3 T C 13: 15,648,581 I296T probably damaging Het
H2-Q2 T C 17: 35,342,825 V97A probably benign Het
Hr T A 14: 70,563,420 probably null Het
Itgax C T 7: 128,149,198 T1133I possibly damaging Het
L3mbtl2 G A 15: 81,681,993 R339H probably damaging Het
Mast4 T C 13: 102,737,107 K1726E possibly damaging Het
Nlrc5 T C 8: 94,476,855 Y528H probably benign Het
Nmnat3 G A 9: 98,399,477 G44D probably damaging Het
Nol8 A T 13: 49,661,568 D366V probably damaging Het
Olfr539 C A 7: 140,667,511 L68M probably damaging Het
Pde4d A T 13: 109,954,591 probably benign Het
Ptpn22 C A 3: 103,912,016 N795K probably benign Het
Rabgap1l A T 1: 160,722,169 V289D probably damaging Het
Slco6b1 T C 1: 96,947,585 noncoding transcript Het
Smarcad1 T A 6: 65,092,526 F530Y probably damaging Het
Spag6 A G 2: 18,742,873 probably benign Het
Supt16 A T 14: 52,178,141 I379N possibly damaging Het
Tmem154 A G 3: 84,684,260 N39S probably benign Het
Ubash3b T A 9: 41,037,479 Y180F probably damaging Het
Usp48 T A 4: 137,639,295 D921E possibly damaging Het
Zdhhc20 T C 14: 57,839,099 T366A probably benign Het
Zfp456 A T 13: 67,366,331 C419S probably damaging Het
Zfp69 T C 4: 120,931,084 T345A probably benign Het
Other mutations in Slc50a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3843:Slc50a1 UTSW 3 89269900 missense probably damaging 1.00
R3964:Slc50a1 UTSW 3 89268786 missense probably benign 0.00
R5877:Slc50a1 UTSW 3 89269153 missense probably damaging 1.00
R6716:Slc50a1 UTSW 3 89269907 missense probably damaging 0.96
R8286:Slc50a1 UTSW 3 89270403 splice site probably null
R8287:Slc50a1 UTSW 3 89270403 splice site probably null
R8534:Slc50a1 UTSW 3 89270403 splice site probably null
Y4338:Slc50a1 UTSW 3 89270110 missense possibly damaging 0.71
Posted On2016-08-02