Incidental Mutation 'IGL01972:Tmem17'
ID181654
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem17
Ensembl Gene ENSMUSG00000049904
Gene Nametransmembrane protein 17
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.201) question?
Stock #IGL01972
Quality Score
Status
Chromosome11
Chromosomal Location22512088-22519234 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 22517265 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 60 (S60G)
Ref Sequence ENSEMBL: ENSMUSP00000051414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059319]
Predicted Effect probably benign
Transcript: ENSMUST00000059319
AA Change: S60G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000051414
Gene: ENSMUSG00000049904
AA Change: S60G

DomainStartEndE-ValueType
Pfam:Transmemb_17 45 152 3.1e-33 PFAM
low complexity region 182 192 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahr T G 12: 35,504,449 D557A possibly damaging Het
Akap11 T C 14: 78,507,857 Q1697R probably damaging Het
Alpi T A 1: 87,099,709 T312S probably damaging Het
Cacna1b C A 2: 24,635,095 probably null Het
Car5a C T 8: 121,927,082 probably null Het
Cubn T C 2: 13,446,072 T841A possibly damaging Het
Eml6 A T 11: 29,838,451 F545I possibly damaging Het
Fam114a2 G A 11: 57,509,394 T156I probably damaging Het
Fam160a2 T C 7: 105,390,145 N5S probably damaging Het
Fbxl21 C T 13: 56,536,859 R259* probably null Het
Gm5117 C T 8: 31,737,759 noncoding transcript Het
Hc T C 2: 34,983,772 Y1650C probably damaging Het
Med12l C A 3: 59,261,893 T1568K probably damaging Het
Olfr429 G T 1: 174,089,421 C127F probably damaging Het
Olfr701 A G 7: 106,818,532 I150V probably benign Het
Olfr996 T C 2: 85,579,773 F178S probably damaging Het
Orm3 A G 4: 63,359,326 S184G probably benign Het
Padi1 A G 4: 140,818,859 probably benign Het
Rnf133 T C 6: 23,648,989 T357A probably benign Het
Skiv2l2 T C 13: 112,881,061 K853E probably damaging Het
Ubqlnl G T 7: 104,149,697 Q198K probably benign Het
Vmn1r69 A T 7: 10,580,659 Y48* probably null Het
Zfp658 G A 7: 43,572,710 W136* probably null Het
Other mutations in Tmem17
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1179:Tmem17 UTSW 11 22518454 missense probably damaging 1.00
R1538:Tmem17 UTSW 11 22517266 missense possibly damaging 0.78
R5425:Tmem17 UTSW 11 22518624 missense probably benign
R5590:Tmem17 UTSW 11 22517450 missense probably benign 0.02
R6025:Tmem17 UTSW 11 22518659 makesense probably null
R6257:Tmem17 UTSW 11 22512297 start gained probably benign
R6518:Tmem17 UTSW 11 22517427 missense possibly damaging 0.91
R6981:Tmem17 UTSW 11 22518508 missense possibly damaging 0.49
R7412:Tmem17 UTSW 11 22518645 missense probably benign 0.00
R7955:Tmem17 UTSW 11 22518490 missense possibly damaging 0.88
Posted On2014-05-07