Incidental Mutation 'IGL02972:Slc43a1'
ID365849
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc43a1
Ensembl Gene ENSMUSG00000027075
Gene Namesolute carrier family 43, member 1
SynonymsLat3, Pov1, PB39, 2610016F07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL02972
Quality Score
Status
Chromosome2
Chromosomal Location84838850-84863594 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 84860118 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 460 (V460G)
Ref Sequence ENSEMBL: ENSMUSP00000112642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028469] [ENSMUST00000111624] [ENSMUST00000111625] [ENSMUST00000121114]
Predicted Effect probably damaging
Transcript: ENSMUST00000028469
AA Change: V503G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028469
Gene: ENSMUSG00000027075
AA Change: V503G

DomainStartEndE-ValueType
Pfam:MFS_1 60 542 6.2e-14 PFAM
transmembrane domain 559 581 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111624
AA Change: V460G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107251
Gene: ENSMUSG00000027075
AA Change: V460G

DomainStartEndE-ValueType
Pfam:MFS_1 16 499 3.7e-14 PFAM
transmembrane domain 516 538 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111625
AA Change: V486G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107252
Gene: ENSMUSG00000027075
AA Change: V486G

DomainStartEndE-ValueType
low complexity region 5 20 N/A INTRINSIC
Pfam:MFS_1 49 524 2.7e-13 PFAM
transmembrane domain 542 564 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121114
AA Change: V460G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112642
Gene: ENSMUSG00000027075
AA Change: V460G

DomainStartEndE-ValueType
Pfam:MFS_1 16 499 3.7e-14 PFAM
transmembrane domain 516 538 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145004
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T A 17: 36,978,520 I105F possibly damaging Het
Bmpr1b C T 3: 141,870,758 D105N probably benign Het
Ces2e A T 8: 104,927,061 S44C probably damaging Het
Chd7 T A 4: 8,855,174 N2134K probably benign Het
Chst15 T C 7: 132,269,173 D211G probably damaging Het
Dpp4 T C 2: 62,352,225 S571G probably damaging Het
Gna11 T C 10: 81,533,391 I113V probably benign Het
Grm3 T C 5: 9,512,410 Y480C probably damaging Het
Mccc1 C T 3: 35,985,089 V252I possibly damaging Het
Nol12 A G 15: 78,940,599 T209A probably damaging Het
Olfr1384 G A 11: 49,514,091 G151D probably damaging Het
Olfr622 A G 7: 103,639,894 M82T probably damaging Het
Olfr859 T C 9: 19,808,942 F208S probably damaging Het
P3h1 C A 4: 119,247,960 Q712K possibly damaging Het
Per2 T A 1: 91,423,981 E934D possibly damaging Het
Pfkl T C 10: 77,988,274 D760G probably benign Het
Piezo2 C A 18: 63,064,785 probably benign Het
Pkd1l1 C T 11: 8,863,908 R1481Q probably damaging Het
Plpp3 T C 4: 105,208,792 V189A possibly damaging Het
Pnpla1 A G 17: 28,886,947 E592G probably null Het
Prdm2 A T 4: 143,132,166 M1518K probably benign Het
Rhbdl3 G A 11: 80,331,916 probably benign Het
Rnf145 C T 11: 44,564,038 S582F probably benign Het
Rsf1 A G 7: 97,661,326 D421G probably benign Het
Serac1 A C 17: 6,070,764 L85* probably null Het
Slc7a6 G A 8: 106,179,427 C97Y probably damaging Het
Slco5a1 A T 1: 12,990,155 L114* probably null Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Taok1 A G 11: 77,559,758 V396A probably benign Het
Tmem232 T A 17: 65,476,673 H233L probably benign Het
Tmprss11c C T 5: 86,237,833 S247N possibly damaging Het
Tnc C T 4: 63,976,478 S1557N probably benign Het
Txlng A G X: 162,807,555 M94T probably damaging Het
Ube2b A T 11: 51,988,682 I87K probably damaging Het
Ubr5 A T 15: 38,041,952 S133R probably damaging Het
Ugt1a5 C T 1: 88,166,422 T124I probably benign Het
Vamp1 G T 6: 125,219,647 R117L probably benign Het
Vmn1r87 G T 7: 13,132,329 Y10* probably null Het
Zan G A 5: 137,463,686 T1077I unknown Het
Zc2hc1b C A 10: 13,171,281 V29F probably damaging Het
Zfp597 T C 16: 3,866,523 D123G probably benign Het
Other mutations in Slc43a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02326:Slc43a1 APN 2 84849771 missense probably damaging 1.00
IGL02480:Slc43a1 APN 2 84839584 missense probably benign 0.02
IGL02740:Slc43a1 APN 2 84859750 missense probably damaging 1.00
IGL03046:Slc43a1 APN 2 84854553 unclassified probably benign
IGL03166:Slc43a1 APN 2 84857356 missense possibly damaging 0.91
R1470:Slc43a1 UTSW 2 84859676 splice site probably benign
R1982:Slc43a1 UTSW 2 84856889 missense possibly damaging 0.94
R2087:Slc43a1 UTSW 2 84849831 missense probably damaging 1.00
R2141:Slc43a1 UTSW 2 84840961 missense probably damaging 1.00
R2969:Slc43a1 UTSW 2 84857335 missense probably damaging 1.00
R6208:Slc43a1 UTSW 2 84856840 missense possibly damaging 0.54
R6362:Slc43a1 UTSW 2 84859784 missense probably damaging 1.00
R7341:Slc43a1 UTSW 2 84862934 missense probably damaging 1.00
R7768:Slc43a1 UTSW 2 84856871 missense probably damaging 1.00
R7776:Slc43a1 UTSW 2 84840853 missense probably damaging 1.00
R7859:Slc43a1 UTSW 2 84856876 missense possibly damaging 0.83
R7942:Slc43a1 UTSW 2 84856876 missense possibly damaging 0.83
R8082:Slc43a1 UTSW 2 84856900 missense probably benign
X0019:Slc43a1 UTSW 2 84855583 missense possibly damaging 0.70
Posted On2015-12-18