Incidental Mutation 'IGL02277:Gm5591'
ID 287358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5591
Ensembl Gene ENSMUSG00000060565
Gene Name predicted gene 5591
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # IGL02277
Quality Score
Status
Chromosome 7
Chromosomal Location 38217563-38227617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38219856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 339 (D339G)
Ref Sequence ENSEMBL: ENSMUSP00000078695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079759]
AlphaFold Q8CDK1
Predicted Effect probably damaging
Transcript: ENSMUST00000079759
AA Change: D339G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078695
Gene: ENSMUSG00000060565
AA Change: D339G

DomainStartEndE-ValueType
low complexity region 319 330 N/A INTRINSIC
Pfam:DUF4629 437 582 1.2e-59 PFAM
low complexity region 648 660 N/A INTRINSIC
low complexity region 693 704 N/A INTRINSIC
low complexity region 711 723 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186462
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C T 9: 57,165,708 (GRCm39) G222D probably benign Het
Abcc6 T C 7: 45,650,485 (GRCm39) D625G probably benign Het
Akr1c12 C T 13: 4,322,268 (GRCm39) R258Q probably damaging Het
Akr1c20 T A 13: 4,564,404 (GRCm39) E36D probably benign Het
Csn2 A G 5: 87,845,881 (GRCm39) probably benign Het
Dennd5a T C 7: 109,497,176 (GRCm39) I1084V possibly damaging Het
Dlg1 A G 16: 31,609,082 (GRCm39) I259V probably damaging Het
Dpysl5 A G 5: 30,946,125 (GRCm39) I344V probably damaging Het
Fcrl6 A G 1: 172,426,686 (GRCm39) C87R probably damaging Het
Fras1 A G 5: 96,735,977 (GRCm39) E524G probably benign Het
Gabpb2 A G 3: 95,096,595 (GRCm39) V270A probably benign Het
Ighv2-5 T A 12: 113,649,127 (GRCm39) T109S possibly damaging Het
Ints4 T A 7: 97,136,665 (GRCm39) L119Q probably damaging Het
Kansl3 A T 1: 36,388,028 (GRCm39) D386E possibly damaging Het
Kdm3b A T 18: 34,956,717 (GRCm39) H1224L probably damaging Het
Macf1 C A 4: 123,380,497 (GRCm39) R1523L probably damaging Het
Myo1f A G 17: 33,798,835 (GRCm39) probably null Het
Nup188 A G 2: 30,216,523 (GRCm39) T776A possibly damaging Het
Or1q1 G A 2: 36,887,196 (GRCm39) probably null Het
Or2y8 T A 11: 52,036,189 (GRCm39) H56L probably damaging Het
Or4f56 T A 2: 111,703,925 (GRCm39) I92F possibly damaging Het
Plxnb1 T A 9: 108,941,201 (GRCm39) L1660Q probably damaging Het
Ppp1r17 A G 6: 56,003,123 (GRCm39) D71G probably damaging Het
Ptprt T C 2: 161,389,301 (GRCm39) Q1264R probably damaging Het
Rgl3 C T 9: 21,885,405 (GRCm39) V642M probably damaging Het
Slc26a2 T C 18: 61,332,052 (GRCm39) T460A probably damaging Het
Smtnl2 T A 11: 72,282,199 (GRCm39) M395L probably damaging Het
St3gal5 A T 6: 72,119,184 (GRCm39) T99S possibly damaging Het
Unc5b T C 10: 60,610,521 (GRCm39) N421S probably benign Het
Zcchc17 G A 4: 130,221,014 (GRCm39) T179M probably benign Het
Zfp369 T C 13: 65,432,746 (GRCm39) S79P probably damaging Het
Other mutations in Gm5591
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Gm5591 APN 7 38,219,838 (GRCm39) missense probably benign 0.20
IGL02277:Gm5591 APN 7 38,218,462 (GRCm39) missense possibly damaging 0.92
IGL02503:Gm5591 APN 7 38,219,433 (GRCm39) missense probably damaging 1.00
IGL02897:Gm5591 APN 7 38,219,466 (GRCm39) missense probably damaging 1.00
IGL02899:Gm5591 APN 7 38,218,842 (GRCm39) missense probably damaging 1.00
R1599:Gm5591 UTSW 7 38,219,794 (GRCm39) missense probably benign
R2365:Gm5591 UTSW 7 38,218,825 (GRCm39) missense probably damaging 1.00
R3054:Gm5591 UTSW 7 38,220,058 (GRCm39) missense probably benign 0.35
R4619:Gm5591 UTSW 7 38,220,072 (GRCm39) missense probably benign 0.04
R4722:Gm5591 UTSW 7 38,218,572 (GRCm39) missense probably damaging 1.00
R4779:Gm5591 UTSW 7 38,221,680 (GRCm39) missense probably damaging 0.96
R5079:Gm5591 UTSW 7 38,221,560 (GRCm39) missense probably benign 0.01
R5237:Gm5591 UTSW 7 38,221,631 (GRCm39) missense probably benign 0.31
R5267:Gm5591 UTSW 7 38,218,338 (GRCm39) missense possibly damaging 0.94
R6337:Gm5591 UTSW 7 38,221,319 (GRCm39) missense probably benign 0.00
R6458:Gm5591 UTSW 7 38,218,459 (GRCm39) missense probably damaging 1.00
R6671:Gm5591 UTSW 7 38,219,523 (GRCm39) missense possibly damaging 0.71
R6709:Gm5591 UTSW 7 38,221,499 (GRCm39) missense probably benign 0.31
R6874:Gm5591 UTSW 7 38,219,715 (GRCm39) missense probably damaging 0.97
R6917:Gm5591 UTSW 7 38,221,614 (GRCm39) missense probably damaging 0.99
R6993:Gm5591 UTSW 7 38,218,647 (GRCm39) missense probably benign
R7446:Gm5591 UTSW 7 38,218,933 (GRCm39) missense probably benign 0.16
R7519:Gm5591 UTSW 7 38,220,094 (GRCm39) missense possibly damaging 0.70
R7596:Gm5591 UTSW 7 38,219,608 (GRCm39) missense probably benign
R7923:Gm5591 UTSW 7 38,221,338 (GRCm39) missense probably benign 0.13
R8003:Gm5591 UTSW 7 38,219,183 (GRCm39) missense probably damaging 0.96
R8027:Gm5591 UTSW 7 38,221,722 (GRCm39) missense probably damaging 0.99
R8058:Gm5591 UTSW 7 38,218,363 (GRCm39) missense probably benign 0.00
R8242:Gm5591 UTSW 7 38,219,746 (GRCm39) missense probably benign
R8719:Gm5591 UTSW 7 38,221,614 (GRCm39) missense probably benign 0.03
R8943:Gm5591 UTSW 7 38,219,727 (GRCm39) missense probably benign 0.21
R9314:Gm5591 UTSW 7 38,221,884 (GRCm39) missense probably benign 0.00
R9403:Gm5591 UTSW 7 38,221,680 (GRCm39) missense probably damaging 0.96
R9403:Gm5591 UTSW 7 38,219,572 (GRCm39) missense probably benign 0.00
R9424:Gm5591 UTSW 7 38,219,721 (GRCm39) missense probably damaging 1.00
RF052:Gm5591 UTSW 7 38,221,999 (GRCm39) frame shift probably null
RF062:Gm5591 UTSW 7 38,221,759 (GRCm39) frame shift probably null
Posted On 2015-04-16