Incidental Mutation 'IGL01781:Vstm5'
ID153915
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vstm5
Ensembl Gene ENSMUSG00000031937
Gene NameV-set and transmembrane domain containing 5
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL01781
Quality Score
Status
Chromosome9
Chromosomal Location15239045-15259416 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 15257672 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 146 (H146R)
Ref Sequence ENSEMBL: ENSMUSP00000034413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034411] [ENSMUST00000034413] [ENSMUST00000213788]
Predicted Effect probably benign
Transcript: ENSMUST00000034411
SMART Domains Protein: ENSMUSP00000034411
Gene: ENSMUSG00000031935

DomainStartEndE-ValueType
low complexity region 51 82 N/A INTRINSIC
Pfam:Med17 123 452 8.5e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000034413
AA Change: H146R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034413
Gene: ENSMUSG00000031937
AA Change: H146R

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
IG 39 138 2e-3 SMART
transmembrane domain 147 169 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000213788
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,399,280 I3618N probably damaging Het
Acss1 A G 2: 150,637,872 L305P probably damaging Het
Alox12e A T 11: 70,321,456 L132Q probably damaging Het
Atp6v0a4 T C 6: 38,074,160 N428D possibly damaging Het
Ccdc80 C T 16: 45,126,130 H811Y probably damaging Het
Cgn T C 3: 94,773,205 M596V probably benign Het
Cpn1 T A 19: 43,966,218 E323V possibly damaging Het
Cul9 A G 17: 46,539,304 S447P probably benign Het
Cyp2f2 A T 7: 27,130,421 Y182F probably benign Het
Dnajc13 T C 9: 104,162,359 M2104V possibly damaging Het
Eri3 T C 4: 117,564,677 F51L probably benign Het
Fgd5 A G 6: 91,988,717 S486G possibly damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm13101 C A 4: 143,965,729 C234F probably benign Het
Ifna4 T C 4: 88,842,152 S98P probably damaging Het
Impg2 A G 16: 56,252,225 K340R probably benign Het
Man2b2 T C 5: 36,813,745 N759S possibly damaging Het
Mfsd1 A G 3: 67,587,911 probably benign Het
Olfr716 T A 7: 107,147,696 C127S probably damaging Het
Pdcd6ip G T 9: 113,691,498 N139K probably damaging Het
Peak1 A T 9: 56,260,065 I193N possibly damaging Het
Psg27 T A 7: 18,565,064 T111S probably damaging Het
Ptprs G A 17: 56,435,676 L489F probably damaging Het
Rpgrip1l A G 8: 91,270,218 V76A probably benign Het
Scd1 A T 19: 44,400,348 M221K possibly damaging Het
Slc38a7 A G 8: 95,843,758 probably null Het
Spon2 T C 5: 33,215,560 D266G probably benign Het
Spry4 C T 18: 38,590,425 G95D probably damaging Het
Supt20 A G 3: 54,695,205 M1V probably null Het
Tmem55a T C 4: 14,893,566 L143S probably damaging Het
Trappc11 A C 8: 47,514,128 F404V possibly damaging Het
Vmn1r178 C A 7: 23,894,009 Q161K probably damaging Het
Vmn2r25 T C 6: 123,839,365 E419G possibly damaging Het
Other mutations in Vstm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01597:Vstm5 APN 9 15257379 missense probably damaging 1.00
IGL02940:Vstm5 APN 9 15257666 missense probably damaging 1.00
R1155:Vstm5 UTSW 9 15257553 missense probably damaging 1.00
R1721:Vstm5 UTSW 9 15257367 missense probably benign 0.13
R2368:Vstm5 UTSW 9 15257731 missense probably benign 0.00
R3160:Vstm5 UTSW 9 15257298 missense probably benign 0.02
R3161:Vstm5 UTSW 9 15257298 missense probably benign 0.02
R3162:Vstm5 UTSW 9 15257298 missense probably benign 0.02
R4612:Vstm5 UTSW 9 15257493 missense probably benign 0.22
R4692:Vstm5 UTSW 9 15257422 missense probably damaging 0.99
R4950:Vstm5 UTSW 9 15257794 splice site probably null
R5088:Vstm5 UTSW 9 15257305 missense possibly damaging 0.87
R6351:Vstm5 UTSW 9 15257533 missense probably damaging 1.00
R7063:Vstm5 UTSW 9 15239253 start gained probably benign
R7720:Vstm5 UTSW 9 15239356 missense probably benign 0.08
Posted On2014-02-04