Incidental Mutation 'R2087:Slc43a1'
ID 231499
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 040092-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R2087 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 84669196-84693930 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84680175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 107 (R107Q)
Ref Sequence ENSEMBL: ENSMUSP00000121368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028469] [ENSMUST00000111624] [ENSMUST00000111625] [ENSMUST00000121114] [ENSMUST00000146816]
AlphaFold Q8BSM7
Predicted Effect probably damaging
Transcript: ENSMUST00000028469
AA Change: R150Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028469
Gene: ENSMUSG00000027075
AA Change: R150Q

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: R107Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107251
Gene: ENSMUSG00000027075
AA Change: R107Q

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: R133Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107252
Gene: ENSMUSG00000027075
AA Change: R133Q

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: R107Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112642
Gene: ENSMUSG00000027075
AA Change: R107Q

DomainStartEndE-ValueType
Pfam:MFS_1 16 499 3.7e-14 PFAM
transmembrane domain 516 538 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145004
Predicted Effect probably damaging
Transcript: ENSMUST00000146816
AA Change: R107Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121368
Gene: ENSMUSG00000027075
AA Change: R107Q

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 75 97 N/A INTRINSIC
Meta Mutation Damage Score 0.7773 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 95% (57/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021P04Rik T A 19: 24,042,364 (GRCm39) noncoding transcript Het
Adamts8 G A 9: 30,873,408 (GRCm39) R871Q probably damaging Het
Ank1 T C 8: 23,583,827 (GRCm39) L310S probably damaging Het
Atp2a3 A G 11: 72,871,274 (GRCm39) T592A probably damaging Het
Bpifb6 A G 2: 153,747,998 (GRCm39) D219G possibly damaging Het
Catsper4 T C 4: 133,953,916 (GRCm39) N81S probably damaging Het
Ccdc14 T C 16: 34,516,015 (GRCm39) probably null Het
Ces1c A C 8: 93,834,230 (GRCm39) N353K probably benign Het
Chrna6 T A 8: 27,897,155 (GRCm39) M241L probably benign Het
Chtf8 T A 8: 107,612,568 (GRCm39) R124* probably null Het
Cpt1b A G 15: 89,306,411 (GRCm39) V296A probably benign Het
Cryl1 G A 14: 57,513,402 (GRCm39) S273L possibly damaging Het
Ctps1 T C 4: 120,420,012 (GRCm39) D134G probably benign Het
Cyp4f18 T C 8: 72,754,832 (GRCm39) M138V probably benign Het
Dnajb12 A G 10: 59,726,667 (GRCm39) K107R possibly damaging Het
Epha1 C T 6: 42,340,502 (GRCm39) D590N probably benign Het
Fndc3b A G 3: 27,505,703 (GRCm39) V855A probably benign Het
Ganc A G 2: 120,287,738 (GRCm39) Y822C probably damaging Het
Hook2 A G 8: 85,729,320 (GRCm39) D622G probably damaging Het
Kcnj8 T A 6: 142,511,422 (GRCm39) N395I probably benign Het
Kdm4b T C 17: 56,696,564 (GRCm39) S427P possibly damaging Het
Krt12 A G 11: 99,309,459 (GRCm39) F267S probably damaging Het
Lrrn2 T G 1: 132,865,489 (GRCm39) F185V probably damaging Het
Mecom A G 3: 30,006,963 (GRCm39) S764P probably benign Het
Mfsd14b C G 13: 65,215,796 (GRCm39) G386R probably damaging Het
Mrm2 A G 5: 140,314,155 (GRCm39) S227P probably damaging Het
Mug1 A G 6: 121,833,250 (GRCm39) N285S probably benign Het
Nalcn T C 14: 123,518,557 (GRCm39) T1661A probably benign Het
Ncoa6 G A 2: 155,248,079 (GRCm39) R1742* probably null Het
Nln T A 13: 104,173,877 (GRCm39) H548L probably damaging Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Or2r3 A T 6: 42,448,985 (GRCm39) N42K probably damaging Het
Or56b34 T A 7: 104,937,393 (GRCm39) I31N probably benign Het
Pgm5 T C 19: 24,710,927 (GRCm39) Y425C probably damaging Het
Pld2 A G 11: 70,433,786 (GRCm39) D242G probably damaging Het
Plekhm1 A G 11: 103,287,851 (GRCm39) probably null Het
Ptdss1 T C 13: 67,124,881 (GRCm39) probably benign Het
Pyroxd2 G T 19: 42,722,209 (GRCm39) L415I probably benign Het
Rapgef6 A G 11: 54,522,075 (GRCm39) T291A probably damaging Het
Rb1 A G 14: 73,517,692 (GRCm39) I238T probably benign Het
Rp1 G A 1: 4,418,575 (GRCm39) H846Y probably damaging Het
Rpgrip1 T A 14: 52,374,079 (GRCm39) probably null Het
Scaf4 T C 16: 90,049,313 (GRCm39) D258G unknown Het
Ska1 A T 18: 74,339,920 (GRCm39) C9S probably benign Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Slc44a3 T A 3: 121,319,319 (GRCm39) N141Y probably damaging Het
Slit1 A T 19: 41,625,922 (GRCm39) D613E probably benign Het
Spata22 A T 11: 73,231,079 (GRCm39) Y111F probably benign Het
Tchh C A 3: 93,351,225 (GRCm39) R222S unknown Het
Tekt3 A G 11: 62,985,523 (GRCm39) D443G possibly damaging Het
Tns2 A T 15: 102,015,554 (GRCm39) Q144L possibly damaging Het
Troap T C 15: 98,976,698 (GRCm39) V274A possibly damaging Het
Ugt1a8 A G 1: 88,015,995 (GRCm39) Y136C probably damaging Het
Vmn2r23 A T 6: 123,718,458 (GRCm39) M604L probably benign Het
Vps13b T A 15: 35,597,639 (GRCm39) W1060R probably damaging Het
Wdfy3 A G 5: 102,042,926 (GRCm39) S1942P probably damaging Het
Wdr90 G A 17: 26,065,577 (GRCm39) T1596I probably damaging Het
Zc3h4 A G 7: 16,150,865 (GRCm39) E69G possibly damaging 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
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
R7859:Slc43a1 UTSW 2 84,687,220 (GRCm39) missense possibly damaging 0.83
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'- TTGCATGTGCTGAACCCTCC -3'
(R):5'- CCCATTCTAGAGAAGGCACACG -3'

Sequencing Primer
(F):5'- ATGTGCTGAACCCTCCCTTTC -3'
(R):5'- GGCACTGTAAGGACACAG -3'
Posted On 2014-09-18