Incidental Mutation 'R6150:Slc17a9'
ID489172
Institutional Source Beutler Lab
Gene Symbol Slc17a9
Ensembl Gene ENSMUSG00000023393
Gene Namesolute carrier family 17, member 9
Synonyms1700019H03Rik, Vnut
MMRRC Submission 044297-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6150 (G1)
Quality Score225.009
Status Validated
Chromosome2
Chromosomal Location180725263-180742280 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 180737628 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 298 (I298V)
Ref Sequence ENSEMBL: ENSMUSP00000091771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094218]
Predicted Effect probably benign
Transcript: ENSMUST00000094218
AA Change: I298V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000091771
Gene: ENSMUSG00000023393
AA Change: I298V

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
Meta Mutation Damage Score 0.0659 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 97% (56/58)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3a1 A G 11: 61,213,508 T74A probably benign Het
Arhgef1 T C 7: 24,919,357 probably null Het
Art1 C G 7: 102,107,087 R162G probably benign Het
Boll T A 1: 55,270,653 I280F possibly damaging Het
Cep44 T C 8: 56,539,805 E258G probably benign Het
Cutc T A 19: 43,759,889 V75E probably damaging Het
Dtx1 T C 5: 120,681,363 K590R probably damaging Het
Eps8 A T 6: 137,517,174 D295E probably damaging Het
Erc2 C A 14: 28,141,291 S491Y probably damaging Het
F2rl3 G T 8: 72,762,738 A198S probably benign Het
Fam83b G A 9: 76,492,357 T488M probably damaging Het
Fitm2 A G 2: 163,470,074 L73P probably damaging Het
Fxyd1 T C 7: 31,054,803 probably null Het
Gm17186 T C 14: 51,680,726 noncoding transcript Het
Hivep3 C A 4: 119,734,077 S94* probably null Het
Ifna1 T A 4: 88,850,112 M9K probably null Het
Igsf11 G A 16: 39,023,349 E275K probably damaging Het
Itga1 G A 13: 114,968,233 L1086F probably benign Het
Itgav T C 2: 83,776,436 S374P probably benign Het
Jmy A T 13: 93,441,133 N842K probably benign Het
Kcnh6 G A 11: 106,020,731 V595M possibly damaging Het
Kif13b T A 14: 64,751,639 I823N probably damaging Het
Kif26b T C 1: 178,915,546 L1069P probably damaging Het
Kl T A 5: 150,988,853 M689K possibly damaging Het
Kmt2b G T 7: 30,588,477 probably benign Het
Map10 G A 8: 125,671,589 D574N probably damaging Het
Mau2 A T 8: 70,019,837 H565Q probably benign Het
Myb A G 10: 21,141,769 I641T probably damaging Het
Naaladl2 C A 3: 24,552,050 G15V probably null Het
Olfr370 G A 8: 83,541,153 C3Y probably benign Het
Olfr399 A C 11: 74,054,319 S147A probably benign Het
Olfr800 A G 10: 129,659,934 I43V probably benign Het
Olfr867 A T 9: 20,054,874 N78K probably benign Het
Otog A G 7: 46,264,059 E772G possibly damaging Het
Pla2g4d T C 2: 120,269,564 D674G probably damaging Het
Pmpcb A G 5: 21,737,139 probably null Het
Pomk A G 8: 25,983,256 V223A possibly damaging Het
Prpf40a T C 2: 53,157,915 M197V probably benign Het
Serpina1e A G 12: 103,950,807 V201A probably benign Het
Six5 C T 7: 19,097,521 P646S probably benign Het
Slc37a2 G T 9: 37,238,347 T188K probably damaging Het
Slc6a11 T A 6: 114,245,618 F525I probably benign Het
Slit2 A T 5: 48,304,174 D1504V probably damaging Het
Srcap T A 7: 127,534,828 M907K probably damaging Het
Sspo T C 6: 48,486,379 L3746P probably benign Het
Supv3l1 A T 10: 62,435,722 N376K possibly damaging Het
Tekt3 A T 11: 63,094,657 T430S possibly damaging Het
Tex2 A T 11: 106,567,080 V508D probably benign Het
Tmem184c G T 8: 77,596,440 Q598K probably benign Het
Ube2v1 G A 2: 167,617,954 R42* probably null Het
Usp45 A C 4: 21,810,797 D331A probably damaging Het
Vangl1 T C 3: 102,184,519 T84A probably damaging Het
Vgll3 T A 16: 65,828,178 probably null Het
Vmn1r61 T A 7: 5,610,679 H212L probably benign Het
Vmn2r114 A G 17: 23,291,295 V737A probably benign Het
Vmn2r35 A T 7: 7,786,556 D727E probably damaging Het
Vps18 T A 2: 119,297,592 Y965* probably null Het
Zfp521 A T 18: 13,844,078 C1093S probably damaging Het
Zfp971 A C 2: 178,033,454 H282P probably benign Het
Other mutations in Slc17a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02110:Slc17a9 APN 2 180732576 splice site probably benign
IGL02334:Slc17a9 APN 2 180740743 critical splice donor site probably null
IGL02383:Slc17a9 APN 2 180735881 missense probably benign 0.29
IGL02685:Slc17a9 APN 2 180733809 missense probably damaging 0.98
IGL03025:Slc17a9 APN 2 180739816 splice site probably null
IGL03338:Slc17a9 APN 2 180740518 splice site probably benign
R2219:Slc17a9 UTSW 2 180731962 missense probably benign
R4615:Slc17a9 UTSW 2 180731906 missense probably benign
R4921:Slc17a9 UTSW 2 180735949 missense probably benign 0.00
R6217:Slc17a9 UTSW 2 180737662 missense probably benign 0.12
R7342:Slc17a9 UTSW 2 180736762 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGTGGGCTCAGTTCTTGCC -3'
(R):5'- GCTGACTCTAAAAGATGGTCTGTG -3'

Sequencing Primer
(F):5'- CGAGGACCCTCTGCTTTTAGG -3'
(R):5'- CTAAAAGATGGTCTGTGTGTCATAG -3'
Posted On2017-10-10