Incidental Mutation 'IGL03046:Slc43a1'
ID408914
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: 0.196) question?
Stock #IGL03046 (G1)
Quality Score
Status
Chromosome2
Chromosomal Location84838850-84863594 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) G to A at 84854553 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028469] [ENSMUST00000111624] [ENSMUST00000111625] [ENSMUST00000121114] [ENSMUST00000146816]
Predicted Effect probably benign
Transcript: ENSMUST00000028469
SMART Domains Protein: ENSMUSP00000028469
Gene: ENSMUSG00000027075

DomainStartEndE-ValueType
Pfam:MFS_1 60 542 6.2e-14 PFAM
transmembrane domain 559 581 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111624
SMART Domains Protein: ENSMUSP00000107251
Gene: ENSMUSG00000027075

DomainStartEndE-ValueType
Pfam:MFS_1 16 499 3.7e-14 PFAM
transmembrane domain 516 538 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111625
SMART Domains Protein: ENSMUSP00000107252
Gene: ENSMUSG00000027075

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 benign
Transcript: ENSMUST00000121114
SMART Domains Protein: ENSMUSP00000112642
Gene: ENSMUSG00000027075

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 benign
Transcript: ENSMUST00000146816
SMART Domains Protein: ENSMUSP00000121368
Gene: ENSMUSG00000027075

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 75 97 N/A INTRINSIC
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (55/56)
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
0610010F05Rik A T 11: 23,615,150 L279Q possibly damaging Het
A2m T A 6: 121,659,323 M717K probably benign Het
Acad12 C A 5: 121,609,966 V130L probably benign Het
Cdca2 T C 14: 67,700,022 probably benign Het
Cfap100 T A 6: 90,412,350 probably null Het
Cfap43 T A 19: 47,815,863 E298V probably damaging Het
Cic C T 7: 25,291,075 P1971S probably damaging Het
Cnga1 T C 5: 72,604,338 D611G probably benign Het
Daglb C T 5: 143,501,193 P522L probably damaging Het
Dclre1b A T 3: 103,803,281 I438K probably benign Het
Ddx5 C A 11: 106,785,045 R273M probably damaging Het
Eepd1 C T 9: 25,482,685 L82F probably damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Exoc6 T C 19: 37,593,769 probably null Het
Fcna G C 2: 25,630,681 probably benign Het
Foxs1 T C 2: 152,932,564 T190A probably benign Het
Gje1 A G 10: 14,716,630 L136P probably damaging Het
Hdac11 A G 6: 91,168,845 T176A probably benign Het
Hhip C A 8: 79,972,338 V700L probably damaging Het
Hps5 T C 7: 46,777,039 probably benign Het
Itgb1bp1 T C 12: 21,279,435 S13G unknown Het
Kcna1 A T 6: 126,642,185 L391M possibly damaging Het
Kif1a C T 1: 93,082,406 V6M probably damaging Het
Klhl6 T C 16: 19,982,889 I39V probably benign Het
Ltn1 A T 16: 87,405,621 S1047R probably benign Het
Mdn1 A G 4: 32,694,495 T1073A possibly damaging Het
Megf10 G T 18: 57,287,983 A898S possibly damaging Het
Mtmr6 T C 14: 60,292,128 probably null Het
Mtnr1b T C 9: 15,862,763 I333M probably benign Het
Muc5ac G T 7: 141,795,213 C463F probably benign Het
Mycbpap G T 11: 94,505,717 T99N possibly damaging Het
Myo7a C T 7: 98,079,327 C824Y probably damaging Het
N4bp2 A G 5: 65,790,960 H311R probably damaging Het
Nepro T A 16: 44,732,146 probably benign Het
Nop56 A T 2: 130,275,569 probably benign Het
Nup210 A G 6: 91,018,996 probably benign Het
Olfr1426 A G 19: 12,088,027 V255A probably damaging Het
Olfr843 T A 9: 19,249,145 I85F probably damaging Het
Pcna C T 2: 132,251,753 E109K probably benign Het
Pkhd1 T G 1: 20,537,365 D1089A possibly damaging Het
Plb1 A G 5: 32,328,412 R847G probably damaging Het
Pou6f2 A G 13: 18,129,027 probably benign Het
Prss43 C G 9: 110,830,981 S371C probably benign Het
Ralgapa1 A T 12: 55,695,157 V1322D probably damaging Het
Rrp8 A G 7: 105,734,902 V131A probably benign Het
Rtp1 A T 16: 23,429,294 K39M probably benign Het
Slc1a6 A G 10: 78,800,174 I358V probably benign Het
Slc25a15 T C 8: 22,395,710 probably benign Het
Speer4c A C 5: 15,714,216 probably benign Het
Spock3 T G 8: 63,348,984 probably null Het
Tbc1d7 T C 13: 43,154,686 probably null Het
Tmem184c C T 8: 77,599,657 W260* probably null Het
Tmem8 A T 17: 26,119,440 probably null Het
Trnau1ap A G 4: 132,311,941 Y265H probably damaging Het
Usp25 T C 16: 77,074,866 F363S probably damaging Het
Vcl T C 14: 21,022,017 F817L possibly damaging Het
Vmn1r13 T A 6: 57,210,732 M292K probably benign Het
Xpc G T 6: 91,510,481 A89E probably damaging 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
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
X0019:Slc43a1 UTSW 2 84855583 missense possibly damaging 0.70
Posted On2016-08-02