Incidental Mutation 'IGL03025:Slc17a9'
ID 408149
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc17a9
Ensembl Gene ENSMUSG00000023393
Gene Name solute carrier family 17, member 9
Synonyms 1700019H03Rik, Vnut
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03025
Quality Score
Status
Chromosome 2
Chromosomal Location 180367056-180384073 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 180381609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000091771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094218]
AlphaFold Q8VCL5
Predicted Effect probably null
Transcript: ENSMUST00000094218
SMART Domains Protein: ENSMUSP00000091771
Gene: ENSMUSG00000023393

DomainStartEndE-ValueType
Pfam:MFS_1 40 398 2.3e-53 PFAM
transmembrane domain 411 433 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139817
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154882
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 member of a family of transmembrane proteins that are involved in the transport of small molecules. The encoded protein participates in the vesicular uptake, storage, and secretion of adenoside triphosphate (ATP) and other nucleotides. A mutation in this gene was found in individuals with autosomal dominant disseminated superficial actinic porokeratosis-8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous knockout affects the neuroendocrine system, resulting in hypoglycemia, increased glucose tolerance and increased insulin sensitivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,315,405 (GRCm39) N91S possibly damaging Het
Adora1 T C 1: 134,130,807 (GRCm39) Y288C probably damaging Het
Avil A T 10: 126,849,446 (GRCm39) T581S probably benign Het
Cacna1h C T 17: 25,651,868 (GRCm39) W92* probably null Het
Calr3 A C 8: 73,188,735 (GRCm39) probably benign Het
Cdan1 T C 2: 120,561,222 (GRCm39) E181G probably damaging Het
Clca4a T C 3: 144,663,079 (GRCm39) N590S probably benign Het
Cnga1 T A 5: 72,762,756 (GRCm39) I253F probably benign Het
Cngb3 T G 4: 19,283,498 (GRCm39) probably benign Het
Cstf3 T A 2: 104,439,276 (GRCm39) Y30N possibly damaging Het
Cyp2a12 T A 7: 26,730,631 (GRCm39) S199T probably benign Het
Dlg1 A G 16: 31,624,545 (GRCm39) I412V probably benign Het
Fasn C T 11: 120,708,974 (GRCm39) V570M probably benign Het
Fhit A G 14: 10,421,534 (GRCm38) S85P probably damaging Het
Frmd5 T A 2: 121,383,825 (GRCm39) M369L probably benign Het
Ftdc2 A C 16: 58,458,076 (GRCm39) I75S probably damaging Het
Gatb T C 3: 85,483,181 (GRCm39) W63R probably damaging Het
Gga1 G T 15: 78,772,382 (GRCm39) L227F probably damaging Het
Itgb1 A G 8: 129,449,065 (GRCm39) N557S possibly damaging Het
Ltf T C 9: 110,854,169 (GRCm39) V328A possibly damaging Het
Nefh T C 11: 4,895,289 (GRCm39) E300G probably damaging Het
Nrip1 A G 16: 76,091,353 (GRCm39) V68A probably benign Het
Or1m1 T C 9: 18,666,665 (GRCm39) N89D probably benign Het
Pcdhb13 T G 18: 37,575,817 (GRCm39) V65G probably damaging Het
Pcdhb4 A T 18: 37,443,030 (GRCm39) Y780F possibly damaging Het
Plcd3 C T 11: 102,965,724 (GRCm39) E503K probably benign Het
Rbm6 T A 9: 107,651,918 (GRCm39) D903V possibly damaging Het
Rnf133 A G 6: 23,649,134 (GRCm39) M265T probably benign Het
Sbf1 T C 15: 89,173,848 (GRCm39) T1775A probably damaging Het
Serpina1f T A 12: 103,659,805 (GRCm39) D159V probably damaging Het
Skap1 C A 11: 96,593,508 (GRCm39) S118R probably damaging Het
Slc30a5 A G 13: 100,950,395 (GRCm39) S231P probably damaging Het
Stac2 A G 11: 97,934,548 (GRCm39) F52S probably damaging Het
Them7 T C 2: 105,128,150 (GRCm39) S44P probably benign Het
Tnmd A G X: 132,766,162 (GRCm39) probably benign Het
Trdmt1 A T 2: 13,528,246 (GRCm39) I105N probably damaging Het
Trpc1 C T 9: 95,592,313 (GRCm39) G554E probably damaging Het
Vmn1r37 A G 6: 66,708,740 (GRCm39) Y85C probably benign Het
Zim1 T C 7: 6,685,058 (GRCm39) T131A probably benign Het
Other mutations in Slc17a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02110:Slc17a9 APN 2 180,374,369 (GRCm39) splice site probably benign
IGL02334:Slc17a9 APN 2 180,382,536 (GRCm39) critical splice donor site probably null
IGL02383:Slc17a9 APN 2 180,377,674 (GRCm39) missense probably benign 0.29
IGL02685:Slc17a9 APN 2 180,375,602 (GRCm39) missense probably damaging 0.98
IGL03338:Slc17a9 APN 2 180,382,311 (GRCm39) splice site probably benign
R2219:Slc17a9 UTSW 2 180,373,755 (GRCm39) missense probably benign
R4615:Slc17a9 UTSW 2 180,373,699 (GRCm39) missense probably benign
R4921:Slc17a9 UTSW 2 180,377,742 (GRCm39) missense probably benign 0.00
R6150:Slc17a9 UTSW 2 180,379,421 (GRCm39) missense probably benign 0.00
R6217:Slc17a9 UTSW 2 180,379,455 (GRCm39) missense probably benign 0.12
R7342:Slc17a9 UTSW 2 180,378,555 (GRCm39) missense probably damaging 1.00
R8120:Slc17a9 UTSW 2 180,374,308 (GRCm39) missense probably benign 0.00
R8936:Slc17a9 UTSW 2 180,380,210 (GRCm39) missense probably benign 0.07
R9440:Slc17a9 UTSW 2 180,383,090 (GRCm39) missense probably benign 0.18
R9709:Slc17a9 UTSW 2 180,374,321 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02