Incidental Mutation 'IGL02277:Gm5591'
ID287358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5591
Ensembl Gene ENSMUSG00000060565
Gene Namepredicted gene 5591
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.217) question?
Stock #IGL02277
Quality Score
Status
Chromosome7
Chromosomal Location38518139-38528193 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 38520432 bp
ZygosityHeterozygous
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]
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: 57,258,425 G222D probably benign Het
Abcc6 T C 7: 46,001,061 D625G probably benign Het
Akr1c12 C T 13: 4,272,269 R258Q probably damaging Het
Akr1c20 T A 13: 4,514,405 E36D probably benign Het
Csn2 A G 5: 87,698,022 probably benign Het
Dennd5a T C 7: 109,897,969 I1084V possibly damaging Het
Dlg1 A G 16: 31,790,264 I259V probably damaging Het
Dpysl5 A G 5: 30,788,781 I344V probably damaging Het
Fcrl6 A G 1: 172,599,119 C87R probably damaging Het
Fras1 A G 5: 96,588,118 E524G probably benign Het
Gabpb2 A G 3: 95,189,284 V270A probably benign Het
Ighv2-5 T A 12: 113,685,507 T109S possibly damaging Het
Ints4 T A 7: 97,487,458 L119Q probably damaging Het
Kansl3 A T 1: 36,348,947 D386E possibly damaging Het
Kdm3b A T 18: 34,823,664 H1224L probably damaging Het
Macf1 C A 4: 123,486,704 R1523L probably damaging Het
Myo1f A G 17: 33,579,861 probably null Het
Nup188 A G 2: 30,326,511 T776A possibly damaging Het
Olfr1305 T A 2: 111,873,580 I92F possibly damaging Het
Olfr1373 T A 11: 52,145,362 H56L probably damaging Het
Olfr357 G A 2: 36,997,184 probably null Het
Plxnb1 T A 9: 109,112,133 L1660Q probably damaging Het
Ppp1r17 A G 6: 56,026,138 D71G probably damaging Het
Ptprt T C 2: 161,547,381 Q1264R probably damaging Het
Rgl3 C T 9: 21,974,109 V642M probably damaging Het
Slc26a2 T C 18: 61,198,980 T460A probably damaging Het
Smtnl2 T A 11: 72,391,373 M395L probably damaging Het
St3gal5 A T 6: 72,142,200 T99S possibly damaging Het
Unc5b T C 10: 60,774,742 N421S probably benign Het
Zcchc17 G A 4: 130,327,221 T179M probably benign Het
Zfp369 T C 13: 65,284,932 S79P probably damaging Het
Other mutations in Gm5591
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Gm5591 APN 7 38520414 missense probably benign 0.20
IGL02277:Gm5591 APN 7 38519038 missense possibly damaging 0.92
IGL02503:Gm5591 APN 7 38520009 missense probably damaging 1.00
IGL02897:Gm5591 APN 7 38520042 missense probably damaging 1.00
IGL02899:Gm5591 APN 7 38519418 missense probably damaging 1.00
R1599:Gm5591 UTSW 7 38520370 missense probably benign
R2365:Gm5591 UTSW 7 38519401 missense probably damaging 1.00
R3054:Gm5591 UTSW 7 38520634 missense probably benign 0.35
R4619:Gm5591 UTSW 7 38520648 missense probably benign 0.04
R4722:Gm5591 UTSW 7 38519148 missense probably damaging 1.00
R4779:Gm5591 UTSW 7 38522256 missense probably damaging 0.96
R5079:Gm5591 UTSW 7 38522136 missense probably benign 0.01
R5237:Gm5591 UTSW 7 38522207 missense probably benign 0.31
R5267:Gm5591 UTSW 7 38518914 missense possibly damaging 0.94
R6337:Gm5591 UTSW 7 38521895 missense probably benign 0.00
R6458:Gm5591 UTSW 7 38519035 missense probably damaging 1.00
R6671:Gm5591 UTSW 7 38520099 missense possibly damaging 0.71
R6709:Gm5591 UTSW 7 38522075 missense probably benign 0.31
R6874:Gm5591 UTSW 7 38520291 missense probably damaging 0.97
R6917:Gm5591 UTSW 7 38522190 missense probably damaging 0.99
R6993:Gm5591 UTSW 7 38519223 missense probably benign
R7446:Gm5591 UTSW 7 38519509 missense probably benign 0.16
R7519:Gm5591 UTSW 7 38520670 missense possibly damaging 0.70
R7596:Gm5591 UTSW 7 38520184 missense probably benign
R8003:Gm5591 UTSW 7 38519759 missense probably damaging 0.96
R8027:Gm5591 UTSW 7 38522298 missense probably damaging 0.99
R8058:Gm5591 UTSW 7 38518939 missense probably benign 0.00
RF052:Gm5591 UTSW 7 38522575 frame shift probably null
RF062:Gm5591 UTSW 7 38522335 frame shift probably null
Posted On2015-04-16