Incidental Mutation 'IGL01391:Slc52a3'
ID 79196
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 # IGL01391
Quality Score
Status
Chromosome 2
Chromosomal Location 151838431-151851178 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 151849522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 390 (I390V)
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: I390V

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000072961
Gene: ENSMUSG00000027463
AA Change: I390V

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: Y227C

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000105484
Gene: ENSMUSG00000027463
AA Change: Y227C

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: Y227C

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000105485
Gene: ENSMUSG00000027463
AA Change: Y227C

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: I390V

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105487
Gene: ENSMUSG00000027463
AA Change: I390V

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3m2 T A 8: 23,289,663 (GRCm39) I147F probably benign Het
Areg T A 5: 91,288,954 (GRCm39) S87T probably damaging Het
Arid1b T A 17: 5,369,133 (GRCm39) probably benign Het
Arl6ip6 A G 2: 53,082,156 (GRCm39) R8G probably benign Het
Brms1 A G 19: 5,096,723 (GRCm39) E135G possibly damaging Het
Ccser1 A G 6: 61,615,505 (GRCm39) probably benign Het
Dock3 A T 9: 106,784,433 (GRCm39) M258K possibly damaging Het
Epb41l4a T G 18: 33,934,678 (GRCm39) D562A possibly damaging Het
Etaa1 G A 11: 17,896,005 (GRCm39) T704I probably damaging Het
Fer1l4 T A 2: 155,878,376 (GRCm39) H972L probably damaging Het
Foxn1 A G 11: 78,252,320 (GRCm39) M356T probably damaging Het
Gfral C A 9: 76,072,107 (GRCm39) G388* probably null Het
Gm12258 A G 11: 58,739,520 (GRCm39) T3A probably benign Het
Hoxa5 T C 6: 52,181,311 (GRCm39) N7S probably damaging Het
Itgb4 T C 11: 115,881,746 (GRCm39) L765P probably damaging Het
Jchain C T 5: 88,669,383 (GRCm39) C90Y probably damaging Het
Klhl40 A G 9: 121,607,983 (GRCm39) Y381C probably damaging Het
Lhx6 A T 2: 35,993,477 (GRCm39) C74S probably benign Het
Magel2 A G 7: 62,030,632 (GRCm39) S1179G unknown Het
Mapre3 T C 5: 31,022,241 (GRCm39) I236T probably damaging Het
Mcf2l A T 8: 13,064,010 (GRCm39) probably null Het
Med13 A T 11: 86,219,323 (GRCm39) H374Q probably benign Het
Meioc A G 11: 102,565,113 (GRCm39) Y187C probably benign Het
Myh1 G A 11: 67,108,689 (GRCm39) M1368I probably benign Het
Or14a258 A T 7: 86,035,208 (GRCm39) I220N possibly damaging Het
Or8b54 A G 9: 38,686,826 (GRCm39) I92V probably damaging Het
Phrf1 T C 7: 140,842,394 (GRCm39) Y1501H probably damaging Het
Pigb T C 9: 72,929,573 (GRCm39) T337A probably damaging Het
Pls1 T C 9: 95,655,751 (GRCm39) K334E probably benign Het
Pramel51 C T 12: 88,145,225 (GRCm39) V34I possibly damaging Het
Rab3b T C 4: 108,797,999 (GRCm39) C226R probably damaging Het
Ryr2 A T 13: 11,571,571 (GRCm39) I4889N possibly damaging Het
Serpinb1a G A 13: 33,029,398 (GRCm39) S210L probably benign Het
Slc6a7 C A 18: 61,136,382 (GRCm39) A340S probably damaging Het
Tcaf3 T C 6: 42,570,615 (GRCm39) Y379C probably damaging Het
Tex261 A G 6: 83,748,222 (GRCm39) V180A probably benign Het
Tnnt1 C T 7: 4,517,211 (GRCm39) probably null Het
Ttn T C 2: 76,798,847 (GRCm39) T476A possibly damaging Het
Vcan A G 13: 89,852,288 (GRCm39) S891P probably benign Het
Vmn2r16 T A 5: 109,511,627 (GRCm39) D611E possibly damaging Het
Vmn2r68 T C 7: 84,886,819 (GRCm39) T32A probably benign Het
Vwde T G 6: 13,190,526 (GRCm39) S522R probably benign Het
Wdr3 G A 3: 100,054,105 (GRCm39) probably benign Het
Wfs1 G T 5: 37,128,907 (GRCm39) Q288K probably benign Het
Zfp142 A G 1: 74,618,699 (GRCm39) V120A probably damaging Het
Zfp672 A G 11: 58,208,192 (GRCm39) F43S probably damaging Het
Znhit3 A T 11: 84,802,283 (GRCm39) probably benign Het
Other mutations in Slc52a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01511:Slc52a3 APN 2 151,846,564 (GRCm39) missense probably benign 0.00
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 2013-11-05