Incidental Mutation 'IGL01097:Gm57859'
ID 52280
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm57859
Ensembl Gene ENSMUSG00000041623
Gene Name predicted gene, 57859
Synonyms D11Wsu47e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL01097
Quality Score
Status
Chromosome 11
Chromosomal Location 113575238-113585473 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113583296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 541 (I541T)
Ref Sequence ENSEMBL: ENSMUSP00000102232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042227] [ENSMUST00000106621] [ENSMUST00000123466] [ENSMUST00000153732]
AlphaFold Q6PIX9
Predicted Effect probably benign
Transcript: ENSMUST00000042227
AA Change: I541T

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000042025
Gene: ENSMUSG00000041623
AA Change: I541T

DomainStartEndE-ValueType
low complexity region 273 283 N/A INTRINSIC
low complexity region 491 510 N/A INTRINSIC
transmembrane domain 529 548 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106621
AA Change: I541T

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102232
Gene: ENSMUSG00000041623
AA Change: I541T

DomainStartEndE-ValueType
low complexity region 273 283 N/A INTRINSIC
low complexity region 491 510 N/A INTRINSIC
transmembrane domain 529 548 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123466
Predicted Effect probably benign
Transcript: ENSMUST00000153732
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 C T 1: 60,486,505 (GRCm39) A75V probably damaging Het
Bud23 G A 5: 135,089,935 (GRCm39) A86V probably damaging Het
Dnajc5 T C 2: 181,189,149 (GRCm39) Y42H probably benign Het
Fchsd1 T C 18: 38,100,810 (GRCm39) probably null Het
Fnbp4 C A 2: 90,606,694 (GRCm39) A835D possibly damaging Het
Grin2d A T 7: 45,502,716 (GRCm39) N718K probably damaging Het
Gsdma3 A G 11: 98,528,398 (GRCm39) K357E probably damaging Het
Impg2 T A 16: 56,081,010 (GRCm39) probably null Het
Lrrtm2 A T 18: 35,345,994 (GRCm39) I436N probably damaging Het
Mterf2 T A 10: 84,955,677 (GRCm39) I316L probably damaging Het
Nav2 G A 7: 49,220,942 (GRCm39) A1710T probably damaging Het
Nrros A G 16: 31,963,003 (GRCm39) V338A possibly damaging Het
Or2f2 T G 6: 42,767,077 (GRCm39) Y35D probably damaging Het
Or52a20 G T 7: 103,366,328 (GRCm39) V176F probably benign Het
Pappa2 T C 1: 158,684,718 (GRCm39) Y807C probably damaging Het
Slc44a4 T C 17: 35,140,545 (GRCm39) L246P probably damaging Het
Stat6 T C 10: 127,490,801 (GRCm39) S407P probably damaging Het
Ttpal T C 2: 163,449,240 (GRCm39) Y32H probably damaging Het
Zfp523 A G 17: 28,420,023 (GRCm39) K223E possibly damaging Het
Other mutations in Gm57859
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01701:Gm57859 APN 11 113,579,927 (GRCm39) missense probably benign 0.27
R0483:Gm57859 UTSW 11 113,580,021 (GRCm39) missense possibly damaging 0.92
R0601:Gm57859 UTSW 11 113,578,712 (GRCm39) missense probably benign 0.38
R1567:Gm57859 UTSW 11 113,578,728 (GRCm39) missense probably damaging 0.99
R4834:Gm57859 UTSW 11 113,579,805 (GRCm39) missense probably benign 0.03
R4923:Gm57859 UTSW 11 113,579,805 (GRCm39) missense probably benign 0.03
R5194:Gm57859 UTSW 11 113,579,654 (GRCm39) missense possibly damaging 0.83
R5779:Gm57859 UTSW 11 113,578,818 (GRCm39) missense probably benign 0.02
R5815:Gm57859 UTSW 11 113,578,783 (GRCm39) splice site probably null
R6174:Gm57859 UTSW 11 113,579,801 (GRCm39) missense possibly damaging 0.46
R6566:Gm57859 UTSW 11 113,578,824 (GRCm39) missense probably damaging 0.96
R6837:Gm57859 UTSW 11 113,579,439 (GRCm39) missense possibly damaging 0.90
R6974:Gm57859 UTSW 11 113,578,818 (GRCm39) missense probably benign 0.02
R7497:Gm57859 UTSW 11 113,583,223 (GRCm39) missense probably damaging 0.97
R9439:Gm57859 UTSW 11 113,583,229 (GRCm39) nonsense probably null
Posted On 2013-06-21