Incidental Mutation 'R7342:Slc17a9'
ID 569913
Institutional Source Beutler Lab
Gene Symbol Slc17a9
Ensembl Gene ENSMUSG00000023393
Gene Name solute carrier family 17, member 9
Synonyms 1700019H03Rik, Vnut
MMRRC Submission 045432-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7342 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 180367056-180384073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 180378555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 246 (L246P)
Ref Sequence ENSEMBL: ENSMUSP00000091771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094218]
AlphaFold Q8VCL5
Predicted Effect probably damaging
Transcript: ENSMUST00000094218
AA Change: L246P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091771
Gene: ENSMUSG00000023393
AA Change: L246P

DomainStartEndE-ValueType
Pfam:MFS_1 40 398 2.3e-53 PFAM
transmembrane domain 411 433 N/A INTRINSIC
Meta Mutation Damage Score 0.8962 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 T G 11: 101,308,018 (GRCm39) T28P probably benign Het
Abcc1 C A 16: 14,283,033 (GRCm39) R1170S probably damaging Het
Adam8 T C 7: 139,566,304 (GRCm39) N568S probably benign Het
Arhgap17 T C 7: 122,926,467 (GRCm39) R65G probably damaging Het
Arid4b A C 13: 14,310,804 (GRCm39) I136L probably benign Het
Ash1l G T 3: 88,873,304 (GRCm39) G29V possibly damaging Het
Atp6v0a2 A G 5: 124,784,676 (GRCm39) T320A probably damaging Het
B4gat1 G A 19: 5,089,686 (GRCm39) V228M probably benign Het
Calcr T A 6: 3,691,536 (GRCm39) H450L probably benign Het
Cand1 A T 10: 119,047,692 (GRCm39) N599K possibly damaging Het
Cblif A T 19: 11,740,587 (GRCm39) H407L probably benign Het
Cel A T 2: 28,450,649 (GRCm39) Y125* probably null Het
Cfi T A 3: 129,668,781 (GRCm39) N602K probably damaging Het
Clstn1 G A 4: 149,713,887 (GRCm39) A190T probably damaging Het
Cmklr1 C T 5: 113,752,354 (GRCm39) V216M probably benign Het
Cntnap5a A G 1: 115,987,852 (GRCm39) T128A probably benign Het
Creld2 A G 15: 88,710,610 (GRCm39) T342A probably benign Het
Ctbp2 T C 7: 132,616,041 (GRCm39) E298G probably damaging Het
Ctsh A T 9: 89,957,040 (GRCm39) E307V probably benign Het
Cxcl10 T A 5: 92,496,029 (GRCm39) D36V probably benign Het
Dgkb A G 12: 38,150,432 (GRCm39) T73A probably benign Het
Dnah3 T G 7: 119,629,208 (GRCm39) E1449A probably damaging Het
Dpp6 T C 5: 27,919,552 (GRCm39) M683T probably benign Het
Foxn4 C A 5: 114,396,760 (GRCm39) W241L probably damaging Het
Gosr1 T C 11: 76,621,033 (GRCm39) I219V probably benign Het
Gtf2f2 T C 14: 76,144,317 (GRCm39) D179G probably damaging Het
Ighg2b A G 12: 113,270,050 (GRCm39) Y323H Het
Itpr2 A T 6: 146,228,685 (GRCm39) H1303Q probably damaging Het
Kif1b A C 4: 149,298,547 (GRCm39) Y1040D possibly damaging Het
Lbr C T 1: 181,653,186 (GRCm39) probably null Het
Lrp2 A G 2: 69,309,634 (GRCm39) V2755A possibly damaging Het
Lrp6 G T 6: 134,427,781 (GRCm39) P1604T probably damaging Het
Lrrcc1 T A 3: 14,619,431 (GRCm39) C606S probably benign Het
Macf1 T C 4: 123,275,917 (GRCm39) E6217G probably damaging Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Myo9b T C 8: 71,808,418 (GRCm39) V1687A probably damaging Het
Naip2 A T 13: 100,325,864 (GRCm39) F15I probably benign Het
Neb A T 2: 52,171,679 (GRCm39) S1605T probably damaging Het
Nuak1 T C 10: 84,210,831 (GRCm39) E419G probably damaging Het
Or14a260 G A 7: 85,985,295 (GRCm39) T103I probably benign Het
Or8c18 A G 9: 38,203,574 (GRCm39) Y111C probably damaging Het
Paip2b T A 6: 83,791,808 (GRCm39) S25C probably damaging Het
Pgbd5 G A 8: 125,160,709 (GRCm39) R53C probably benign Het
Plin4 T C 17: 56,411,608 (GRCm39) T808A probably benign Het
Pramel11 A T 4: 143,623,520 (GRCm39) I218K probably benign Het
Prex2 A G 1: 11,232,549 (GRCm39) D872G probably benign Het
Ptf1a A G 2: 19,451,977 (GRCm39) *325W probably null Het
Ptprg T C 14: 12,237,151 (GRCm38) V1390A possibly damaging Het
Rhpn2 A G 7: 35,033,771 (GRCm39) T2A probably damaging Het
Rpl18a T C 8: 71,348,042 (GRCm39) N214D unknown Het
Scp2 T A 4: 107,948,518 (GRCm39) Y197F probably benign Het
Sftpb G A 6: 72,286,858 (GRCm39) R254H probably benign Het
Slc38a9 G T 13: 112,806,125 (GRCm39) probably benign Het
Slc4a1ap C T 5: 31,693,634 (GRCm39) L523F possibly damaging Het
Spats2l C A 1: 57,925,106 (GRCm39) T168K possibly damaging Het
Sstr1 A G 12: 58,260,456 (GRCm39) S360G possibly damaging Het
Taf1b A T 12: 24,608,343 (GRCm39) K581* probably null Het
Tfip11 T A 5: 112,475,838 (GRCm39) M1K probably null Het
Tgoln1 G C 6: 72,593,261 (GRCm39) T73R probably benign Het
Ttc23l G A 15: 10,551,583 (GRCm39) H48Y probably benign Het
Uggt2 T A 14: 119,232,384 (GRCm39) H1489L possibly damaging Het
Unc13b T C 4: 43,258,703 (GRCm39) L1346P probably damaging Het
Vmac T C 17: 57,022,644 (GRCm39) E122G probably benign Het
Vmn2r125 T C 4: 156,703,138 (GRCm39) V172A probably damaging Het
Zfp54 A G 17: 21,648,014 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- CCAAGGGATTAGTAAGATGCACC -3'
(R):5'- ACACTGACTCCATGTGGGAC -3'

Sequencing Primer
(F):5'- GGATTAGTAAGATGCACCCTGACTC -3'
(R):5'- TGGGACCCACTCCTTCC -3'
Posted On 2019-09-13