Incidental Mutation 'R6208:Slc43a1'
ID503244
Institutional Source Beutler Lab
Gene Symbol Slc43a1
Ensembl Gene ENSMUSG00000027075
Gene Namesolute carrier family 43, member 1
SynonymsLat3, Pov1, PB39, 2610016F07Rik
MMRRC Submission 044342-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.102) question?
Stock #R6208 (G1)
Quality Score225.009
Status Validated
Chromosome2
Chromosomal Location84838850-84863594 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84856840 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 319 (I319V)
Ref Sequence ENSEMBL: ENSMUSP00000112642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028469] [ENSMUST00000111624] [ENSMUST00000111625] [ENSMUST00000121114]
Predicted Effect probably benign
Transcript: ENSMUST00000028469
AA Change: I362V

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000028469
Gene: ENSMUSG00000027075
AA Change: I362V

DomainStartEndE-ValueType
Pfam:MFS_1 60 542 6.2e-14 PFAM
transmembrane domain 559 581 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111624
AA Change: I319V

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107251
Gene: ENSMUSG00000027075
AA Change: I319V

DomainStartEndE-ValueType
Pfam:MFS_1 16 499 3.7e-14 PFAM
transmembrane domain 516 538 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111625
AA Change: I345V

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107252
Gene: ENSMUSG00000027075
AA Change: I345V

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 possibly damaging
Transcript: ENSMUST00000121114
AA Change: I319V

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112642
Gene: ENSMUSG00000027075
AA Change: I319V

DomainStartEndE-ValueType
Pfam:MFS_1 16 499 3.7e-14 PFAM
transmembrane domain 516 538 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145004
Meta Mutation Damage Score 0.1585 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (57/58)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a A T 3: 32,711,894 I18F probably benign Het
Apol11a C T 15: 77,517,041 R243C probably damaging Het
Asap3 A G 4: 136,241,197 M687V probably benign Het
Axdnd1 C T 1: 156,392,856 probably benign Het
Baz2b A G 2: 59,924,806 F1026S probably damaging Het
Bsg T C 10: 79,708,838 L70P probably damaging Het
Col10a1 A G 10: 34,394,586 N185D possibly damaging Het
Col6a2 T A 10: 76,615,057 N50I possibly damaging Het
Cux2 G A 5: 121,860,822 P1352S possibly damaging Het
Defa25 A G 8: 21,085,181 probably null Het
Emc1 G T 4: 139,354,271 R70L probably damaging Het
Fat1 T C 8: 45,027,613 F3028S probably damaging Het
Fhit T C 14: 9,573,435 E205G probably benign Het
Gaa C A 11: 119,281,171 A700D probably benign Het
Gm20830 T G Y: 6,916,792 E109A probably benign Homo
Grm1 A T 10: 10,719,946 F646Y probably damaging Het
Hp1bp3 A G 4: 138,217,170 probably benign Het
Lce1d G A 3: 92,686,005 P34S unknown Het
Lpar1 G A 4: 58,504,630 Q13* probably null Het
Lrrc61 C T 6: 48,568,905 R221* probably null Het
Map2 A G 1: 66,431,590 N328D probably damaging Het
Mndal T A 1: 173,857,422 D527V possibly damaging Het
Mycbp2 T G 14: 103,295,228 N430T probably benign Het
Myo1e A G 9: 70,376,605 Y861C probably damaging Het
Nav2 A G 7: 49,564,103 T1622A probably damaging Het
Nom1 A T 5: 29,449,619 H773L possibly damaging Het
Npc2 G T 12: 84,757,145 P144Q probably damaging Het
Npnt A G 3: 132,950,013 probably benign Het
Nxpe4 A T 9: 48,393,378 Y255F probably benign Het
Obscn G A 11: 59,067,648 A3769V possibly damaging Het
Optc T C 1: 133,904,999 D121G probably damaging Het
Pard6a T C 8: 105,702,234 F26L probably damaging Het
Pcdhga4 T A 18: 37,686,709 I437N probably damaging Het
Phf12 G T 11: 78,023,591 V71F probably damaging Het
Phf21b T A 15: 84,795,116 S282C probably damaging Het
Pou5f1 T C 17: 35,510,460 F323S possibly damaging Het
Psmd5 A T 2: 34,867,011 I67N probably damaging Het
Pyroxd1 A G 6: 142,357,456 K273R probably benign Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Rpusd1 A T 17: 25,730,378 H174L probably damaging Het
Ryr2 T C 13: 11,895,220 K94R probably benign Het
Scn2b A G 9: 45,118,030 R3G probably benign Het
Sf3b2 A T 19: 5,275,098 M782K possibly damaging Het
Skint7 A G 4: 111,984,876 probably null Het
Snupn T A 9: 56,982,963 M356K probably damaging Het
Spata31d1a C A 13: 59,700,564 R1250M probably damaging Het
Sprr2h T C 3: 92,386,909 V21A unknown Het
Srpr A G 9: 35,215,995 T614A possibly damaging Het
Stk36 A T 1: 74,611,432 Q327L probably benign Het
Syne3 A G 12: 104,943,363 I738T probably benign Het
Tcea3 A T 4: 136,248,049 M1L probably damaging Het
Tead2 G T 7: 45,218,102 R85L probably damaging Het
Thap7 T C 16: 17,528,436 N228D possibly damaging Het
Trip11 T A 12: 101,898,895 E173V probably damaging Het
Ttc38 T A 15: 85,841,497 M187K possibly damaging Het
Vmn1r193 T A 13: 22,218,968 T285S possibly damaging Het
Vmn2r106 T C 17: 20,268,329 T603A probably damaging Het
Vps39 A T 2: 120,333,416 M355K probably damaging Het
Wnt5b G T 6: 119,446,512 L51I probably damaging Het
Xxylt1 A G 16: 31,007,808 Y230H 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
IGL02972:Slc43a1 APN 2 84860118 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
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
R8082:Slc43a1 UTSW 2 84856900 missense probably benign
R8240:Slc43a1 UTSW 2 84859823 missense possibly damaging 0.67
R8395:Slc43a1 UTSW 2 84840922 missense probably damaging 1.00
R8861:Slc43a1 UTSW 2 84861404 missense possibly damaging 0.76
X0019:Slc43a1 UTSW 2 84855583 missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- AGAGCACACTGTACCTGAAGC -3'
(R):5'- AGATGATCCTCTGAGCTGAGC -3'

Sequencing Primer
(F):5'- AAGAGTCCTCTTCCTCTCTGAAG -3'
(R):5'- ATCCTCTGAGCTGAGCTGCAC -3'
Posted On2018-02-27