Incidental Mutation 'IGL03235:Slc36a4'
ID414021
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc36a4
Ensembl Gene ENSMUSG00000043885
Gene Namesolute carrier family 36 (proton/amino acid symporter), member 4
Synonyms6330573I15Rik, PAT4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL03235
Quality Score
Status
Chromosome9
Chromosomal Location15709738-15743361 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 15723549 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 129 (V129E)
Ref Sequence ENSEMBL: ENSMUSP00000057355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061568] [ENSMUST00000115588]
Predicted Effect probably damaging
Transcript: ENSMUST00000061568
AA Change: V129E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057355
Gene: ENSMUSG00000043885
AA Change: V129E

DomainStartEndE-ValueType
Pfam:Aa_trans 54 470 4.5e-82 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115588
AA Change: V129E

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111251
Gene: ENSMUSG00000043885
AA Change: V129E

DomainStartEndE-ValueType
Pfam:Aa_trans 54 401 2e-66 PFAM
Pfam:AA_permease_2 56 371 3.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214954
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 amino acids and have 9 to 11 transmembrane domains. Unlike other SLC36 family members, which are proton-coupled amino acid transporters, SLC36A4 is a high-affinity/low-capacity non-proton-coupled amino acid transporter (Pillai and Meredith, 2011 [PubMed 21097500]).[supplied by OMIM, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2b1 A G 11: 83,341,384 N461S probably benign Het
Baz1a A T 12: 54,898,535 V1345E probably damaging Het
Ccdc60 T A 5: 116,131,146 M472L probably benign Het
Cenpf C T 1: 189,683,927 R67K probably damaging Het
Cfap45 A T 1: 172,538,493 R304S possibly damaging Het
D5Ertd579e T A 5: 36,618,828 probably benign Het
Eefsec T C 6: 88,376,375 D104G probably damaging Het
Eif2ak4 A G 2: 118,443,140 S849G probably damaging Het
Frem1 G A 4: 83,020,755 T30I possibly damaging Het
Glt28d2 A T 3: 85,871,802 H121Q possibly damaging Het
Hacl1 C T 14: 31,631,038 W106* probably null Het
March6 A G 15: 31,485,995 S376P probably damaging Het
Mkrn1 T C 6: 39,401,330 Y289C probably damaging Het
Msl2 A G 9: 101,100,768 T114A probably benign Het
Ntrk3 C A 7: 78,192,592 K829N probably damaging Het
Olfr32 A T 2: 90,139,070 V23E possibly damaging Het
Pcdhgc5 A T 18: 37,820,098 I142F probably damaging Het
Pip5kl1 A G 2: 32,578,154 R153G probably damaging Het
Rgs19 T C 2: 181,689,732 K93R probably benign Het
Spata13 T C 14: 60,751,792 L299P probably damaging Het
Tle2 T C 10: 81,586,251 S353P probably benign Het
Trav13-4-dv7 T C 14: 53,757,841 V84A probably benign Het
Vmn1r8 A T 6: 57,036,761 K266* probably null Het
Wwtr1 C A 3: 57,477,533 V255F probably benign Het
Other mutations in Slc36a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02631:Slc36a4 APN 9 15726941 missense probably damaging 1.00
R0418:Slc36a4 UTSW 9 15734266 missense probably damaging 1.00
R1112:Slc36a4 UTSW 9 15723515 missense possibly damaging 0.58
R1219:Slc36a4 UTSW 9 15723536 missense probably damaging 1.00
R1858:Slc36a4 UTSW 9 15720710 missense probably damaging 1.00
R1934:Slc36a4 UTSW 9 15720789 missense probably damaging 0.99
R1975:Slc36a4 UTSW 9 15734210 missense probably damaging 1.00
R1976:Slc36a4 UTSW 9 15734210 missense probably damaging 1.00
R1977:Slc36a4 UTSW 9 15734210 missense probably damaging 1.00
R2069:Slc36a4 UTSW 9 15726980 missense probably damaging 0.97
R3735:Slc36a4 UTSW 9 15738273 nonsense probably null
R4682:Slc36a4 UTSW 9 15726848 nonsense probably null
R5244:Slc36a4 UTSW 9 15734278 missense probably benign 0.29
R5268:Slc36a4 UTSW 9 15726916 missense possibly damaging 0.74
R5641:Slc36a4 UTSW 9 15728802 splice site probably null
R5888:Slc36a4 UTSW 9 15727028 missense probably damaging 1.00
R6194:Slc36a4 UTSW 9 15726876 nonsense probably null
R6651:Slc36a4 UTSW 9 15723578 missense probably benign 0.00
R7023:Slc36a4 UTSW 9 15719633 missense probably benign 0.01
R7114:Slc36a4 UTSW 9 15721954 missense probably benign 0.04
R7263:Slc36a4 UTSW 9 15722156 splice site probably null
R7538:Slc36a4 UTSW 9 15734215 missense possibly damaging 0.93
R7564:Slc36a4 UTSW 9 15726812 missense probably damaging 0.99
R7757:Slc36a4 UTSW 9 15719660 missense possibly damaging 0.74
X0018:Slc36a4 UTSW 9 15734212 missense possibly damaging 0.86
Z1177:Slc36a4 UTSW 9 15719641 missense probably damaging 1.00
Z1177:Slc36a4 UTSW 9 15720720 missense probably damaging 1.00
Posted On2016-08-02