Incidental Mutation 'IGL03282:Slc38a8'
ID415629
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc38a8
Ensembl Gene ENSMUSG00000034224
Gene Namesolute carrier family 38, member 8
SynonymsLOC234788
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #IGL03282
Quality Score
Status
Chromosome8
Chromosomal Location119479602-119501698 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 119499716 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 111 (N111K)
Ref Sequence ENSEMBL: ENSMUSP00000119987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036748] [ENSMUST00000133821] [ENSMUST00000138061]
Predicted Effect probably damaging
Transcript: ENSMUST00000036748
AA Change: N111K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038438
Gene: ENSMUSG00000034224
AA Change: N111K

DomainStartEndE-ValueType
Pfam:Aa_trans 22 429 3.7e-58 PFAM
Pfam:Trp_Tyr_perm 23 264 1.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125594
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132838
SMART Domains Protein: ENSMUSP00000121251
Gene: ENSMUSG00000034224

DomainStartEndE-ValueType
Pfam:Aa_trans 39 289 1.1e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000133821
AA Change: N111K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123094
Gene: ENSMUSG00000034224
AA Change: N111K

DomainStartEndE-ValueType
Pfam:Trp_Tyr_perm 22 163 2.1e-10 PFAM
Pfam:Aa_trans 22 165 3.5e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000138061
AA Change: N111K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119987
Gene: ENSMUSG00000034224
AA Change: N111K

DomainStartEndE-ValueType
Pfam:Aa_trans 22 202 2.2e-25 PFAM
Pfam:Trp_Tyr_perm 23 196 1.2e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atl1 A G 12: 69,954,464 I333M possibly damaging Het
Atxn2 A G 5: 121,785,235 T52A probably benign Het
Atxn7 T A 14: 14,100,564 L750H probably damaging Het
Cadps T C 14: 12,465,856 probably benign Het
Cts6 T A 13: 61,196,447 I264F possibly damaging Het
Dnah6 G T 6: 73,053,647 probably benign Het
Epg5 A G 18: 77,986,426 S1335G probably benign Het
Gm10073 A T 8: 106,573,340 V4D probably benign Het
Gpld1 T A 13: 24,971,408 M342K probably benign Het
Herc1 T A 9: 66,451,459 F2607L probably benign Het
Ighv2-9-1 T C 12: 113,769,865 Y112C probably damaging Het
Itga4 A T 2: 79,325,594 H968L probably damaging Het
Me1 C T 9: 86,613,596 R286Q probably damaging Het
Med1 G A 11: 98,156,817 T1051M probably damaging Het
Msh2 T G 17: 87,689,002 D379E probably benign Het
Mup4 T A 4: 59,958,547 M118L possibly damaging Het
Ostm1 A T 10: 42,698,231 S152C probably damaging Het
Pla2g1b A G 5: 115,470,880 N45D probably damaging Het
Rab21 A G 10: 115,298,898 probably benign Het
Rapgef4 G A 2: 72,205,752 probably benign Het
Snrnp35 A G 5: 124,490,309 T62A probably damaging Het
Strn3 T C 12: 51,627,209 I540V probably benign Het
Tgm1 A G 14: 55,711,070 V208A probably damaging Het
Vmn1r62 A T 7: 5,675,548 D76V possibly damaging Het
Vmn1r90 T A 7: 14,561,501 H224L probably benign Het
Vmn1r90 A T 7: 14,562,168 S2T possibly damaging Het
Other mutations in Slc38a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Slc38a8 APN 8 119494219 missense probably benign 0.01
IGL02167:Slc38a8 APN 8 119487360 missense probably benign 0.03
IGL02565:Slc38a8 APN 8 119485561 missense probably damaging 1.00
IGL02899:Slc38a8 APN 8 119485543 missense probably benign 0.34
IGL03177:Slc38a8 APN 8 119485512 missense probably damaging 1.00
R1109:Slc38a8 UTSW 8 119482655 missense probably benign
R1116:Slc38a8 UTSW 8 119496133 missense probably damaging 1.00
R2247:Slc38a8 UTSW 8 119485650 missense probably benign 0.00
R4964:Slc38a8 UTSW 8 119482684 splice site probably null
R5294:Slc38a8 UTSW 8 119494289 missense probably damaging 1.00
R5303:Slc38a8 UTSW 8 119486041 missense possibly damaging 0.66
R5430:Slc38a8 UTSW 8 119494220 missense probably benign 0.16
R5643:Slc38a8 UTSW 8 119480749 makesense probably null
R6016:Slc38a8 UTSW 8 119494305 splice site probably null
R7346:Slc38a8 UTSW 8 119499815 nonsense probably null
R7425:Slc38a8 UTSW 8 119485588 missense possibly damaging 0.89
R7502:Slc38a8 UTSW 8 119501081 missense possibly damaging 0.60
R8081:Slc38a8 UTSW 8 119485530 missense possibly damaging 0.54
Posted On2016-08-02