Incidental Mutation 'IGL01511:Slc52a3'
ID 89221
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc52a3
Ensembl Gene ENSMUSG00000027463
Gene Name solute carrier protein family 52, member 3
Synonyms 2310046K01Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01511
Quality Score
Status
Chromosome 2
Chromosomal Location 151838431-151851178 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 151846564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 175 (T175I)
Ref Sequence ENSEMBL: ENSMUSP00000105487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073228] [ENSMUST00000109858] [ENSMUST00000109859] [ENSMUST00000109861]
AlphaFold Q9D6X5
Predicted Effect probably benign
Transcript: ENSMUST00000073228
AA Change: T175I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000072961
Gene: ENSMUSG00000027463
AA Change: T175I

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 39 61 N/A INTRINSIC
transmembrane domain 74 96 N/A INTRINSIC
transmembrane domain 106 128 N/A INTRINSIC
transmembrane domain 141 163 N/A INTRINSIC
transmembrane domain 210 232 N/A INTRINSIC
Pfam:DUF1011 285 386 7.6e-47 PFAM
transmembrane domain 390 412 N/A INTRINSIC
transmembrane domain 419 441 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109858
AA Change: T175I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105484
Gene: ENSMUSG00000027463
AA Change: T175I

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 39 61 N/A INTRINSIC
transmembrane domain 74 96 N/A INTRINSIC
transmembrane domain 106 128 N/A INTRINSIC
transmembrane domain 135 157 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109859
AA Change: T175I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105485
Gene: ENSMUSG00000027463
AA Change: T175I

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 39 61 N/A INTRINSIC
transmembrane domain 74 96 N/A INTRINSIC
transmembrane domain 106 128 N/A INTRINSIC
transmembrane domain 135 157 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109861
AA Change: T175I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105487
Gene: ENSMUSG00000027463
AA Change: T175I

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 39 61 N/A INTRINSIC
transmembrane domain 74 96 N/A INTRINSIC
transmembrane domain 106 128 N/A INTRINSIC
transmembrane domain 141 163 N/A INTRINSIC
transmembrane domain 210 232 N/A INTRINSIC
Pfam:DUF1011 288 386 1.1e-42 PFAM
transmembrane domain 390 412 N/A INTRINSIC
transmembrane domain 419 441 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal placental riboflavin transport and sudden neonatal death associated with hyperlipidemia and hypoglycemia due to riboflavin deficiency. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,135,136 (GRCm39) D216E probably benign Het
Abcc4 C A 14: 118,836,753 (GRCm39) L669F probably benign Het
Adam29 C T 8: 56,324,456 (GRCm39) G666D probably damaging Het
Adat2 T G 10: 13,435,982 (GRCm39) M109R probably null Het
Atf3 T A 1: 190,903,693 (GRCm39) T178S probably benign Het
Birc6 T A 17: 74,933,998 (GRCm39) Y2522* probably null Het
Ccr8 G A 9: 119,923,691 (GRCm39) G269R probably damaging Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Chrna4 C T 2: 180,670,461 (GRCm39) V432I probably benign Het
Commd8 A G 5: 72,322,722 (GRCm39) V65A probably benign Het
Cyp2j13 A G 4: 95,965,552 (GRCm39) F52L possibly damaging Het
Desi1 T A 15: 81,886,789 (GRCm39) K45* probably null Het
Dmbt1 T A 7: 130,718,457 (GRCm39) M1552K possibly damaging Het
Dna2 G A 10: 62,791,093 (GRCm39) M197I possibly damaging Het
Dnah7a A C 1: 53,458,754 (GRCm39) L3795V probably damaging Het
Dnai4 T C 4: 102,905,558 (GRCm39) D741G possibly damaging Het
Fam221b T C 4: 43,660,135 (GRCm39) probably null Het
Fbxw18 A T 9: 109,517,889 (GRCm39) S366T possibly damaging Het
Fzd8 A G 18: 9,213,293 (GRCm39) Y125C unknown Het
Gcsam T C 16: 45,436,315 (GRCm39) Y11H probably damaging Het
Gucy2f G T X: 140,944,730 (GRCm39) D410E probably damaging Het
Hdac3 C T 18: 38,085,648 (GRCm39) A53T probably benign Het
Lamp2 A G X: 37,520,752 (GRCm39) L244P probably damaging Het
Lrrk1 A T 7: 65,915,198 (GRCm39) F1630Y possibly damaging Het
M1ap C A 6: 83,005,393 (GRCm39) D434E probably benign Het
Mcmbp A G 7: 128,308,888 (GRCm39) Y378H probably damaging Het
Mvb12a T A 8: 71,997,946 (GRCm39) V120E probably damaging Het
Nbeal2 A C 9: 110,458,302 (GRCm39) W2063G probably damaging Het
Neto1 A C 18: 86,414,033 (GRCm39) H9P possibly damaging Het
Nmu C T 5: 76,488,668 (GRCm39) V126M probably damaging Het
Odf2 T C 2: 29,804,321 (GRCm39) probably benign Het
Or2y15 A G 11: 49,351,043 (GRCm39) E179G probably damaging Het
Pdzrn3 T C 6: 101,130,217 (GRCm39) H533R possibly damaging Het
Pikfyve G T 1: 65,298,028 (GRCm39) E1586* probably null Het
Plcb3 C A 19: 6,933,211 (GRCm39) R970L probably damaging Het
Plxna3 A G X: 73,378,914 (GRCm39) E686G probably damaging Het
Polrmt T A 10: 79,575,985 (GRCm39) Y586F probably benign Het
Ppt1 T A 4: 122,748,218 (GRCm39) F225I probably damaging Het
Prcc T G 3: 87,779,548 (GRCm39) D162A probably damaging Het
Ripor1 T C 8: 106,346,562 (GRCm39) probably benign Het
Rnaseh1 A G 12: 28,709,008 (GRCm39) H263R probably damaging Het
Rnf19b T A 4: 128,974,211 (GRCm39) S490R probably damaging Het
Slc15a2 T A 16: 36,605,088 (GRCm39) T23S probably damaging Het
Slc34a1 T C 13: 24,003,121 (GRCm39) probably null Het
Slc35f4 T C 14: 49,536,334 (GRCm39) M434V probably benign Het
Slc5a2 C T 7: 127,869,794 (GRCm39) T409M probably benign Het
Tbc1d24 A G 17: 24,400,892 (GRCm39) S108P probably benign Het
Thnsl2 T G 6: 71,116,777 (GRCm39) Q125P probably benign Het
Ttc13 T C 8: 125,403,110 (GRCm39) D672G probably damaging Het
Ttn G T 2: 76,584,089 (GRCm39) H14013N possibly damaging Het
Unc5a T C 13: 55,152,629 (GRCm39) F792L probably damaging Het
Vac14 T C 8: 111,439,430 (GRCm39) V669A possibly damaging Het
Vmn1r13 A T 6: 57,187,314 (GRCm39) M158L probably benign Het
Vmn1r220 A T 13: 23,368,384 (GRCm39) V104D probably damaging Het
Zfp738 A T 13: 67,831,520 (GRCm39) probably null Het
Zscan5b A C 7: 6,234,421 (GRCm39) H149P probably benign Het
Other mutations in Slc52a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Slc52a3 APN 2 151,849,522 (GRCm39) missense probably benign 0.41
IGL02058:Slc52a3 APN 2 151,847,811 (GRCm39) missense probably damaging 1.00
IGL02271:Slc52a3 APN 2 151,847,448 (GRCm39) splice site probably benign
R0238:Slc52a3 UTSW 2 151,850,076 (GRCm39) makesense probably null
R0238:Slc52a3 UTSW 2 151,850,076 (GRCm39) makesense probably null
R0239:Slc52a3 UTSW 2 151,850,076 (GRCm39) makesense probably null
R0239:Slc52a3 UTSW 2 151,850,076 (GRCm39) makesense probably null
R0352:Slc52a3 UTSW 2 151,849,433 (GRCm39) nonsense probably null
R3727:Slc52a3 UTSW 2 151,847,701 (GRCm39) missense probably benign 0.00
R4272:Slc52a3 UTSW 2 151,847,660 (GRCm39) missense possibly damaging 0.87
R4273:Slc52a3 UTSW 2 151,847,660 (GRCm39) missense possibly damaging 0.87
R6267:Slc52a3 UTSW 2 151,849,529 (GRCm39) splice site probably null
R7265:Slc52a3 UTSW 2 151,846,336 (GRCm39) missense possibly damaging 0.78
R7409:Slc52a3 UTSW 2 151,846,086 (GRCm39) missense probably damaging 1.00
R7634:Slc52a3 UTSW 2 151,846,534 (GRCm39) missense possibly damaging 0.49
R8697:Slc52a3 UTSW 2 151,846,396 (GRCm39) missense probably damaging 1.00
R8822:Slc52a3 UTSW 2 151,846,513 (GRCm39) missense probably benign
R9243:Slc52a3 UTSW 2 151,846,512 (GRCm39) missense probably benign
R9443:Slc52a3 UTSW 2 151,846,299 (GRCm39) missense probably benign
Posted On 2013-12-03