Incidental Mutation 'IGL02685:Slc17a9'
ID 303530
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 # IGL02685
Quality Score
Status
Chromosome 2
Chromosomal Location 180367056-180384073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 180375602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 175 (Q175K)
Ref Sequence ENSEMBL: ENSMUSP00000091771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094218]
AlphaFold Q8VCL5
Predicted Effect probably damaging
Transcript: ENSMUST00000094218
AA Change: Q175K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091771
Gene: ENSMUSG00000023393
AA Change: Q175K

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: ENSMUST00000151882
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,869,682 (GRCm39) Y779C probably damaging Het
Acad10 A G 5: 121,770,672 (GRCm39) F532L probably benign Het
Adgrb3 A T 1: 25,123,323 (GRCm39) probably null Het
Akr1d1 T C 6: 37,507,278 (GRCm39) probably benign Het
Aqp11 A G 7: 97,386,759 (GRCm39) Y146H probably damaging Het
Cdh2 A T 18: 16,779,557 (GRCm39) L168Q probably damaging Het
Ces2f C T 8: 105,679,730 (GRCm39) Q277* probably null Het
Cmya5 G A 13: 93,227,505 (GRCm39) Q2528* probably null Het
Col22a1 A G 15: 71,673,764 (GRCm39) V984A unknown Het
Col5a3 T C 9: 20,683,501 (GRCm39) D1557G unknown Het
Cpb1 A T 3: 20,319,520 (GRCm39) V188E probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ephb1 G T 9: 101,918,302 (GRCm39) Y402* probably null Het
Foxm1 T C 6: 128,350,070 (GRCm39) L319S possibly damaging Het
Gmppb T C 9: 107,927,118 (GRCm39) probably benign Het
Grid2 T G 6: 64,322,800 (GRCm39) M600R possibly damaging Het
Gstm6 T C 3: 107,848,507 (GRCm39) K57E probably benign Het
Hars2 T G 18: 36,924,171 (GRCm39) S422A probably benign Het
Igdcc4 T C 9: 65,041,107 (GRCm39) M1092T possibly damaging Het
Ighv13-1 C A 12: 114,231,403 (GRCm39) probably benign Het
Iqgap2 C A 13: 95,807,912 (GRCm39) R785L probably damaging Het
Kalrn G A 16: 34,334,329 (GRCm39) Q8* probably null Het
Mms22l A G 4: 24,591,133 (GRCm39) T1035A probably benign Het
Myo1b A G 1: 51,817,658 (GRCm39) Y535H probably damaging Het
Neb T A 2: 52,065,313 (GRCm39) K6234N possibly damaging Het
Nlrp9c A G 7: 26,084,982 (GRCm39) I199T probably damaging Het
Or10ak7 A T 4: 118,791,134 (GRCm39) F304I possibly damaging Het
Or4c108 T A 2: 88,803,365 (GRCm39) N290I possibly damaging Het
Or52h9 C A 7: 104,202,357 (GRCm39) T77K probably benign Het
Or7g32 T C 9: 19,408,098 (GRCm39) I18T probably benign Het
Osmr T C 15: 6,845,054 (GRCm39) E904G probably benign Het
Pde8b T C 13: 95,162,628 (GRCm39) *831W probably null Het
Prkdc T C 16: 15,653,907 (GRCm39) V3888A possibly damaging Het
Scn9a C A 2: 66,367,637 (GRCm39) S693I probably damaging Het
Sepsecs T C 5: 52,804,534 (GRCm39) T379A probably benign Het
Ska1 T A 18: 74,330,119 (GRCm39) H207L probably benign Het
Slc38a2 G A 15: 96,589,306 (GRCm39) T396I probably benign Het
Slc9a4 A C 1: 40,668,742 (GRCm39) H795P probably benign Het
Sorbs2 C T 8: 46,256,877 (GRCm39) T955I probably benign Het
Spata4 A T 8: 55,053,963 (GRCm39) H43L probably benign Het
Ss18l2 G A 9: 121,539,484 (GRCm39) A6T possibly damaging Het
Sult1e1 C T 5: 87,727,765 (GRCm39) W172* probably null Het
Tlcd1 T C 11: 78,070,363 (GRCm39) probably benign Het
Tmc8 T C 11: 117,683,400 (GRCm39) S652P probably damaging Het
Vps37b T C 5: 124,148,874 (GRCm39) S54G probably damaging Het
Wdr26 A T 1: 181,011,345 (GRCm39) S511T possibly damaging Het
Zfhx4 A G 3: 5,477,213 (GRCm39) Y3251C probably damaging 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
IGL03025:Slc17a9 APN 2 180,381,609 (GRCm39) splice site probably null
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 2015-04-16