Incidental Mutation 'IGL02383:Slc17a9'
ID 291443
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 # IGL02383
Quality Score
Status
Chromosome 2
Chromosomal Location 180367056-180384073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 180377674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 190 (D190A)
Ref Sequence ENSEMBL: ENSMUSP00000091771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094218]
AlphaFold Q8VCL5
Predicted Effect probably benign
Transcript: ENSMUST00000094218
AA Change: D190A

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000091771
Gene: ENSMUSG00000023393
AA Change: D190A

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik T C 6: 133,269,205 (GRCm39) probably benign Het
Adap2 C A 11: 80,051,015 (GRCm39) A115D probably damaging Het
Ankrd1 A G 19: 36,097,165 (GRCm39) V6A probably benign Het
Apobr T A 7: 126,185,779 (GRCm39) V430E probably benign Het
Arhgap28 A G 17: 68,203,084 (GRCm39) V123A probably benign Het
Atp2b2 A G 6: 113,790,903 (GRCm39) V167A probably damaging Het
B3galnt2 A T 13: 14,171,618 (GRCm39) *505C probably null Het
Bcat2 T A 7: 45,237,431 (GRCm39) L305Q probably damaging Het
Coa8 T A 12: 111,690,847 (GRCm39) probably benign Het
Col9a1 T C 1: 24,224,339 (GRCm39) S174P unknown Het
Ddx41 A T 13: 55,680,170 (GRCm39) D418E probably benign Het
Defa40 A G 8: 21,740,377 (GRCm39) D61G probably damaging Het
Exoc6 T C 19: 37,566,922 (GRCm39) F240L probably benign Het
Fbln7 G A 2: 128,737,477 (GRCm39) V431I probably benign Het
Gfral T A 9: 76,104,374 (GRCm39) N213Y probably damaging Het
Golgb1 A G 16: 36,706,562 (GRCm39) D22G probably benign Het
H2-M1 G A 17: 36,981,141 (GRCm39) T298I unknown Het
Haus3 A T 5: 34,323,580 (GRCm39) Y343* probably null Het
Hid1 T C 11: 115,243,446 (GRCm39) E534G probably damaging Het
Il4ra T C 7: 125,170,676 (GRCm39) V196A probably benign Het
Itm2b C A 14: 73,600,536 (GRCm39) E255* probably null Het
Kidins220 A T 12: 25,047,332 (GRCm39) probably benign Het
Klhl22 T A 16: 17,594,762 (GRCm39) F297Y possibly damaging Het
Krt9 T C 11: 100,082,041 (GRCm39) E253G probably damaging Het
Man2a2 G A 7: 80,009,388 (GRCm39) A822V probably damaging Het
Map3k6 T A 4: 132,973,932 (GRCm39) probably null Het
Med29 C A 7: 28,086,448 (GRCm39) R120L possibly damaging Het
Napa C T 7: 15,846,503 (GRCm39) probably benign Het
Ncapd3 T A 9: 26,961,624 (GRCm39) Y351N probably benign Het
Nphs1 C T 7: 30,181,060 (GRCm39) probably benign Het
Or5b94 A G 19: 12,651,899 (GRCm39) D110G probably benign Het
Prss16 T C 13: 22,193,697 (GRCm39) I33V probably benign Het
Ripk1 A G 13: 34,199,227 (GRCm39) Y193C probably damaging Het
Rph3a C T 5: 121,102,002 (GRCm39) R78H probably damaging Het
Rrp9 T A 9: 106,362,471 (GRCm39) I452N probably damaging Het
Ryr2 A T 13: 11,737,607 (GRCm39) probably benign Het
Sec23a A G 12: 59,048,813 (GRCm39) L103P probably damaging Het
Slc44a4 G A 17: 35,146,686 (GRCm39) V422I probably benign Het
Smc5 C T 19: 23,191,996 (GRCm39) probably benign Het
Tax1bp1 C T 6: 52,730,351 (GRCm39) S611F probably benign Het
Tmem38b G A 4: 53,854,345 (GRCm39) M192I probably benign Het
Unc45a G T 7: 79,989,410 (GRCm39) C34* probably null Het
Usp46 T A 5: 74,190,014 (GRCm39) M6L probably benign Het
Uspl1 G A 5: 149,150,212 (GRCm39) V471M probably damaging Het
Vmn1r35 T A 6: 66,655,875 (GRCm39) Q265L probably damaging Het
Vmn1r35 G T 6: 66,655,876 (GRCm39) Q265K probably damaging Het
Vmn1r50 A G 6: 90,084,461 (GRCm39) I69V possibly damaging Het
Vps33b A G 7: 79,935,082 (GRCm39) probably null Het
Xntrpc A C 7: 101,742,802 (GRCm39) D604A probably damaging Het
Yeats4 T A 10: 117,051,716 (GRCm39) R180S 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
IGL02685:Slc17a9 APN 2 180,375,602 (GRCm39) missense probably damaging 0.98
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