Incidental Mutation 'IGL03171:Gm527'
ID 411847
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm527
Ensembl Gene ENSMUSG00000047227
Gene Name predicted gene 527
Synonyms LOC217648
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # IGL03171
Quality Score
Status
Chromosome 12
Chromosomal Location 64964685-64971365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64967931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 118 (Y118H)
Ref Sequence ENSEMBL: ENSMUSP00000152061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058135] [ENSMUST00000220993] [ENSMUST00000223388]
AlphaFold Q4KL13
Predicted Effect probably damaging
Transcript: ENSMUST00000058135
AA Change: Y118H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220928
Predicted Effect probably damaging
Transcript: ENSMUST00000220993
AA Change: Y118H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000223388
AA Change: Y118H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T A 6: 83,139,377 (GRCm39) F434Y possibly damaging Het
Adam19 G T 11: 46,029,681 (GRCm39) A709S probably damaging Het
Adgrf3 A T 5: 30,401,292 (GRCm39) L42Q probably damaging Het
D430041D05Rik T C 2: 104,071,508 (GRCm39) N1264S possibly damaging Het
Dnah9 T G 11: 65,872,067 (GRCm39) K2721T probably benign Het
Efr3b C T 12: 4,018,622 (GRCm39) A575T probably benign Het
Esco1 T C 18: 10,594,263 (GRCm39) E341G probably damaging Het
Ezh2 G A 6: 47,517,715 (GRCm39) R574* probably null Het
Fam169a G T 13: 97,246,522 (GRCm39) probably benign Het
Fry T C 5: 150,304,274 (GRCm39) Y555H probably damaging Het
Gm17175 A C 14: 51,809,065 (GRCm39) S100R probably damaging Het
H2-M10.4 G T 17: 36,772,142 (GRCm39) T202N probably damaging Het
Ift70a1 C T 2: 75,810,851 (GRCm39) A411T probably benign Het
Igf1 A T 10: 87,700,683 (GRCm39) T36S probably damaging Het
Ints8 C T 4: 11,231,702 (GRCm39) V428I probably benign Het
Itga6 G A 2: 71,671,673 (GRCm39) probably null Het
Jmjd1c A G 10: 67,061,277 (GRCm39) E1210G possibly damaging Het
Kdm2a A T 19: 4,406,792 (GRCm39) V134E probably damaging Het
Limch1 C A 5: 67,191,537 (GRCm39) N947K possibly damaging Het
Met T C 6: 17,562,272 (GRCm39) probably benign Het
Neb A G 2: 52,106,376 (GRCm39) probably benign Het
Ogg1 A G 6: 113,310,375 (GRCm39) I274V possibly damaging Het
Ola1 A T 2: 72,987,197 (GRCm39) I145K probably benign Het
Or2r11 G A 6: 42,437,464 (GRCm39) T163I possibly damaging Het
Pacrg A G 17: 10,795,462 (GRCm39) V166A possibly damaging Het
Pira2 T A 7: 3,845,604 (GRCm39) E260V probably damaging Het
Prickle3 T C X: 7,531,526 (GRCm39) C277R probably damaging Het
Psen1 A G 12: 83,761,638 (GRCm39) T147A probably damaging Het
Pxk C T 14: 8,151,014 (GRCm38) probably benign Het
Scn11a G A 9: 119,648,913 (GRCm39) P50L probably benign Het
Scn4a C A 11: 106,236,418 (GRCm39) V281L probably benign Het
Shcbp1 A G 8: 4,789,166 (GRCm39) I551T probably benign Het
Snx13 T A 12: 35,150,539 (GRCm39) I281N probably benign Het
Spata31e4 T A 13: 50,856,388 (GRCm39) S675R probably benign Het
Spopfm1 C A 3: 94,173,762 (GRCm39) H257N probably benign Het
Tdo2 T C 3: 81,874,336 (GRCm39) K209E probably benign Het
Trip6 C T 5: 137,311,146 (GRCm39) R190Q probably benign Het
Ubqln1 T A 13: 58,328,672 (GRCm39) E426D probably damaging Het
Zfp607b C A 7: 27,393,020 (GRCm39) N49K possibly damaging Het
Other mutations in Gm527
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03354:Gm527 APN 12 64,969,154 (GRCm39) missense probably damaging 0.96
R1905:Gm527 UTSW 12 64,967,797 (GRCm39) missense possibly damaging 0.94
R3951:Gm527 UTSW 12 64,970,276 (GRCm39) splice site probably benign
R5155:Gm527 UTSW 12 64,970,381 (GRCm39) missense probably damaging 0.99
R5747:Gm527 UTSW 12 64,967,620 (GRCm39) missense probably damaging 0.99
R6358:Gm527 UTSW 12 64,970,322 (GRCm39) missense possibly damaging 0.92
R6696:Gm527 UTSW 12 64,967,866 (GRCm39) missense possibly damaging 0.66
R7496:Gm527 UTSW 12 64,969,184 (GRCm39) missense possibly damaging 0.75
R8266:Gm527 UTSW 12 64,967,719 (GRCm39) missense probably damaging 0.99
R8498:Gm527 UTSW 12 64,967,782 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02