Incidental Mutation 'IGL02897:Gm5591'
ID 363436
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 # IGL02897
Quality Score
Status
Chromosome 7
Chromosomal Location 38217563-38227617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38219466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 469 (E469G)
Ref Sequence ENSEMBL: ENSMUSP00000078695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079759]
AlphaFold Q8CDK1
Predicted Effect probably damaging
Transcript: ENSMUST00000079759
AA Change: E469G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078695
Gene: ENSMUSG00000060565
AA Change: E469G

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T A 11: 23,467,308 (GRCm39) E108D probably benign Het
Abca7 T C 10: 79,837,426 (GRCm39) F437L probably damaging Het
Abi2 T C 1: 60,487,353 (GRCm39) V134A probably damaging Het
Ablim2 T C 5: 35,990,470 (GRCm39) I75T probably damaging Het
Aldh1a3 A G 7: 66,077,075 (GRCm39) V29A probably benign Het
Bptf T C 11: 106,937,947 (GRCm39) K2715E probably damaging Het
Cd163 A T 6: 124,302,486 (GRCm39) S1017C probably damaging Het
Cdc14b T C 13: 64,395,067 (GRCm39) I76V probably benign Het
Cers6 T A 2: 68,764,877 (GRCm39) C63* probably null Het
Chd9 T C 8: 91,660,496 (GRCm39) probably benign Het
Col19a1 T C 1: 24,573,179 (GRCm39) N198D unknown Het
Cse1l T C 2: 166,761,628 (GRCm39) C61R possibly damaging Het
Cubn T C 2: 13,323,123 (GRCm39) T2815A possibly damaging Het
Cyp19a1 G T 9: 54,074,195 (GRCm39) T453K possibly damaging Het
Dlg1 G T 16: 31,590,674 (GRCm39) probably null Het
Dpp7 T C 2: 25,243,684 (GRCm39) Y339C probably damaging Het
Dtl T C 1: 191,273,656 (GRCm39) probably benign Het
Ing3 T A 6: 21,969,325 (GRCm39) V202E probably benign Het
Inpp5j A G 11: 3,450,619 (GRCm39) L578P probably damaging Het
Irak4 A G 15: 94,451,872 (GRCm39) N155S probably benign Het
Kif2b A T 11: 91,467,045 (GRCm39) S413T probably damaging Het
L3mbtl1 A T 2: 162,807,692 (GRCm39) Y490F probably damaging Het
Med17 T G 9: 15,178,830 (GRCm39) D447A probably damaging Het
Med26 T C 8: 73,250,365 (GRCm39) T245A probably benign Het
Nlrc3 A T 16: 3,781,938 (GRCm39) S490R possibly damaging Het
Nme5 A G 18: 34,702,956 (GRCm39) probably benign Het
Or51aa5 T C 7: 103,167,337 (GRCm39) R85G probably benign Het
Rnf10 G T 5: 115,386,700 (GRCm39) Q530K probably benign Het
Robo3 A T 9: 37,338,798 (GRCm39) Y281* probably null Het
Sclt1 T C 3: 41,629,822 (GRCm39) I330V probably benign Het
Smim14 A T 5: 65,607,739 (GRCm39) probably benign Het
Trank1 T G 9: 111,196,585 (GRCm39) H1536Q probably damaging Het
Tspan18 A G 2: 93,050,518 (GRCm39) L35P possibly damaging Het
Ubr4 G A 4: 139,199,819 (GRCm39) V4568M probably damaging Het
Vmn1r63 A G 7: 5,805,744 (GRCm39) V296A possibly 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
IGL02277:Gm5591 APN 7 38,219,856 (GRCm39) missense probably damaging 0.98
IGL02503:Gm5591 APN 7 38,219,433 (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 2015-12-18