Incidental Mutation 'R7859:Slc43a1'
ID 607352
Institutional Source Beutler Lab
Gene Symbol Slc43a1
Ensembl Gene ENSMUSG00000027075
Gene Name solute carrier family 43, member 1
Synonyms 2610016F07Rik, Pov1, Lat3, PB39
MMRRC Submission 045912-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R7859 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 84669196-84693930 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84687220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 374 (F374L)
Ref Sequence ENSEMBL: ENSMUSP00000028469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028469] [ENSMUST00000111624] [ENSMUST00000111625] [ENSMUST00000121114]
AlphaFold Q8BSM7
Predicted Effect possibly damaging
Transcript: ENSMUST00000028469
AA Change: F374L

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028469
Gene: ENSMUSG00000027075
AA Change: F374L

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: F331L

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107251
Gene: ENSMUSG00000027075
AA Change: F331L

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: F357L

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107252
Gene: ENSMUSG00000027075
AA Change: F357L

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: F331L

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112642
Gene: ENSMUSG00000027075
AA Change: F331L

DomainStartEndE-ValueType
Pfam:MFS_1 16 499 3.7e-14 PFAM
transmembrane domain 516 538 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,603,500 (GRCm39) L564P probably damaging Het
Arsb T A 13: 93,998,615 (GRCm39) S308T probably benign Het
Atxn10 A G 15: 85,346,526 (GRCm39) D428G probably benign Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
Cd300a T C 11: 114,784,165 (GRCm39) Y58H probably benign Het
Cemip2 T A 19: 21,809,539 (GRCm39) I973N possibly damaging Het
Crkl T A 16: 17,286,960 (GRCm39) M172K probably damaging Het
Cyfip1 T C 7: 55,549,774 (GRCm39) I647T probably damaging Het
Dlgap1 A G 17: 70,823,683 (GRCm39) T223A probably benign Het
Dmtf1 T C 5: 9,178,044 (GRCm39) S372G probably damaging Het
Dock8 G A 19: 25,160,934 (GRCm39) V1814M probably damaging Het
Dusp22 A C 13: 30,892,737 (GRCm39) K171N probably benign Het
Evi2a T C 11: 79,418,452 (GRCm39) S53G probably benign Het
Ipcef1 T A 10: 6,840,569 (GRCm39) D376V probably damaging Het
Kndc1 A T 7: 139,500,880 (GRCm39) D723V possibly damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Mcur1 G A 13: 43,713,485 (GRCm39) R40* probably null Het
Mgam T A 6: 40,717,113 (GRCm39) N265K possibly damaging Het
Muc6 G A 7: 141,231,687 (GRCm39) T1069I probably damaging Het
Myh2 T C 11: 67,077,526 (GRCm39) L887P probably damaging Het
Myo1d T G 11: 80,575,203 (GRCm39) D171A probably damaging Het
Nat2 T A 8: 67,954,002 (GRCm39) F37L probably damaging Het
Nkx2-2 A G 2: 147,019,730 (GRCm39) C236R unknown Het
Nrl G A 14: 55,759,582 (GRCm39) S115L probably benign Het
Nrsn1 A C 13: 25,446,254 (GRCm39) S41A probably damaging Het
Or5b12 T A 19: 12,897,346 (GRCm39) E109V probably damaging Het
Pax8 T A 2: 24,311,567 (GRCm39) H456L possibly damaging Het
Pkd1 T A 17: 24,790,254 (GRCm39) I979K probably damaging Het
Prex2 A G 1: 11,150,274 (GRCm39) N149D probably damaging Het
Psg28 A T 7: 18,160,149 (GRCm39) V349D probably damaging Het
Ptpro G A 6: 137,369,805 (GRCm39) probably null Het
Sema4d T A 13: 51,876,387 (GRCm39) K94N probably benign Het
Slc22a22 A T 15: 57,114,348 (GRCm39) D326E probably benign Het
Slc25a29 G A 12: 108,792,756 (GRCm39) T274I probably benign Het
Syne1 G T 10: 5,107,683 (GRCm39) Q520K possibly damaging Het
Taar4 T C 10: 23,837,032 (GRCm39) V214A probably benign Het
Tex22 T A 12: 113,052,103 (GRCm39) C54S possibly damaging Het
Tpo T A 12: 30,150,573 (GRCm39) I436F probably damaging Het
Usp53 T C 3: 122,743,415 (GRCm39) H507R possibly damaging Het
Usp54 T C 14: 20,638,204 (GRCm39) E255G probably benign Het
Vmn2r109 G T 17: 20,761,436 (GRCm39) F640L probably damaging Het
Vmn2r124 A G 17: 18,282,212 (GRCm39) Y80C probably damaging Het
Vmn2r27 A T 6: 124,201,201 (GRCm39) I252K probably benign Het
Zfp457 A G 13: 67,454,445 (GRCm39) probably benign Het
Other mutations in Slc43a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02326:Slc43a1 APN 2 84,680,115 (GRCm39) missense probably damaging 1.00
IGL02480:Slc43a1 APN 2 84,669,928 (GRCm39) missense probably benign 0.02
IGL02740:Slc43a1 APN 2 84,690,094 (GRCm39) missense probably damaging 1.00
IGL02972:Slc43a1 APN 2 84,690,462 (GRCm39) missense probably damaging 1.00
IGL03046:Slc43a1 APN 2 84,684,897 (GRCm39) unclassified probably benign
IGL03166:Slc43a1 APN 2 84,687,700 (GRCm39) missense possibly damaging 0.91
R1470:Slc43a1 UTSW 2 84,690,020 (GRCm39) splice site probably benign
R1982:Slc43a1 UTSW 2 84,687,233 (GRCm39) missense possibly damaging 0.94
R2087:Slc43a1 UTSW 2 84,680,175 (GRCm39) missense probably damaging 1.00
R2141:Slc43a1 UTSW 2 84,671,305 (GRCm39) missense probably damaging 1.00
R2969:Slc43a1 UTSW 2 84,687,679 (GRCm39) missense probably damaging 1.00
R6208:Slc43a1 UTSW 2 84,687,184 (GRCm39) missense possibly damaging 0.54
R6362:Slc43a1 UTSW 2 84,690,128 (GRCm39) missense probably damaging 1.00
R7341:Slc43a1 UTSW 2 84,693,278 (GRCm39) missense probably damaging 1.00
R7768:Slc43a1 UTSW 2 84,687,215 (GRCm39) missense probably damaging 1.00
R7776:Slc43a1 UTSW 2 84,671,197 (GRCm39) missense probably damaging 1.00
R8082:Slc43a1 UTSW 2 84,687,244 (GRCm39) missense probably benign
R8240:Slc43a1 UTSW 2 84,690,167 (GRCm39) missense possibly damaging 0.67
R8395:Slc43a1 UTSW 2 84,671,266 (GRCm39) missense probably damaging 1.00
R8861:Slc43a1 UTSW 2 84,691,748 (GRCm39) missense possibly damaging 0.76
R8937:Slc43a1 UTSW 2 84,690,450 (GRCm39) missense probably damaging 1.00
R9383:Slc43a1 UTSW 2 84,690,506 (GRCm39) missense probably damaging 1.00
X0019:Slc43a1 UTSW 2 84,685,927 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- CTTCCTCTCTGAAGTCACACAG -3'
(R):5'- TCTCTGTGGGTAGAGGAGAGAC -3'

Sequencing Primer
(F):5'- ACACTAGTTCCATATGAGCTGAACAG -3'
(R):5'- ACATGGTAATCGGATGCTTAGCC -3'
Posted On 2019-12-20