Incidental Mutation 'IGL00916:Ilrun'
ID 29265
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ilrun
Ensembl Gene ENSMUSG00000056692
Gene Name inflammation and lipid regulator with UBA-like and NBR1-like domains
Synonyms D17Wsu92e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00916
Quality Score
Status
Chromosome 17
Chromosomal Location 27970206-28039516 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27986893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 278 (Y278H)
Ref Sequence ENSEMBL: ENSMUSP00000074585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075076] [ENSMUST00000114859] [ENSMUST00000114863]
AlphaFold Q3TT38
Predicted Effect probably damaging
Transcript: ENSMUST00000075076
AA Change: Y278H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000074585
Gene: ENSMUSG00000056692
AA Change: Y278H

DomainStartEndE-ValueType
Pfam:UBA_4 25 68 1.6e-13 PFAM
Pfam:N_BRCA1_IG 80 179 1.6e-37 PFAM
low complexity region 257 276 N/A INTRINSIC
low complexity region 282 291 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114859
SMART Domains Protein: ENSMUSP00000110509
Gene: ENSMUSG00000056692

DomainStartEndE-ValueType
Pfam:UBA_4 25 69 5.1e-15 PFAM
PDB:4OLE|D 74 180 2e-9 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000114863
AA Change: Y278H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110513
Gene: ENSMUSG00000056692
AA Change: Y278H

DomainStartEndE-ValueType
Pfam:UBA_4 25 69 2.2e-14 PFAM
PDB:4OLE|D 74 180 8e-9 PDB
low complexity region 257 276 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,075,851 (GRCm39) Q762L probably benign Het
Aldh1a1 T C 19: 20,597,361 (GRCm39) V114A probably benign Het
Ano4 T C 10: 88,833,960 (GRCm39) I459V probably benign Het
Atad5 C T 11: 80,009,826 (GRCm39) P1199S probably damaging Het
Bmp10 T C 6: 87,406,142 (GRCm39) F43S possibly damaging Het
Cd96 T C 16: 45,861,675 (GRCm39) E505G probably benign Het
Eapp T C 12: 54,739,593 (GRCm39) T75A possibly damaging Het
Emilin1 T C 5: 31,071,246 (GRCm39) Y10H probably damaging Het
Ercc6 A G 14: 32,284,612 (GRCm39) probably benign Het
Gucy2e T C 11: 69,113,923 (GRCm39) I1089V possibly damaging Het
H6pd C A 4: 150,078,925 (GRCm39) probably null Het
Igsf10 A T 3: 59,238,548 (GRCm39) F544L probably damaging Het
Il23r T C 6: 67,450,915 (GRCm39) Y188C probably damaging Het
Inpp5j T C 11: 3,452,389 (GRCm39) E287G probably damaging Het
Lrp6 T C 6: 134,461,252 (GRCm39) D735G probably damaging Het
Mast2 A T 4: 116,184,830 (GRCm39) M240K possibly damaging Het
Mreg T A 1: 72,203,291 (GRCm39) T96S probably benign Het
Mta2 A T 19: 8,924,465 (GRCm39) M220L probably benign Het
Mycbp2 A G 14: 103,528,719 (GRCm39) probably benign Het
Naip2 T A 13: 100,297,939 (GRCm39) N699I probably damaging Het
Ncapg T G 5: 45,828,534 (GRCm39) I95S probably benign Het
Ndufa13 A G 8: 70,347,069 (GRCm39) probably benign Het
Nol10 T A 12: 17,411,130 (GRCm39) probably benign Het
Parp8 T A 13: 117,063,859 (GRCm39) I85F probably damaging Het
Rgs2 T A 1: 143,877,967 (GRCm39) I78F probably damaging Het
Rpia C T 6: 70,752,086 (GRCm39) probably benign Het
Sec63 T C 10: 42,688,453 (GRCm39) S488P possibly damaging Het
Tfcp2 T G 15: 100,418,559 (GRCm39) H201P probably damaging Het
Tnfaip2 T G 12: 111,419,983 (GRCm39) I705R probably damaging Het
Ttf1 A G 2: 28,960,054 (GRCm39) N554S probably benign Het
Ulk1 A G 5: 110,940,877 (GRCm39) S351P probably damaging Het
Zp2 T A 7: 119,737,397 (GRCm39) N264Y probably damaging Het
Other mutations in Ilrun
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:Ilrun APN 17 28,005,043 (GRCm39) critical splice donor site probably null
IGL01805:Ilrun APN 17 27,986,880 (GRCm39) splice site probably benign
detroit UTSW 17 28,013,044 (GRCm39) splice site probably null
michigander UTSW 17 27,986,960 (GRCm39) missense probably benign 0.12
R0423:Ilrun UTSW 17 28,005,207 (GRCm39) missense probably damaging 1.00
R0833:Ilrun UTSW 17 28,005,112 (GRCm39) missense probably damaging 1.00
R0836:Ilrun UTSW 17 28,005,112 (GRCm39) missense probably damaging 1.00
R1055:Ilrun UTSW 17 27,986,910 (GRCm39) missense probably damaging 1.00
R1251:Ilrun UTSW 17 28,005,044 (GRCm39) critical splice donor site probably null
R1646:Ilrun UTSW 17 28,012,934 (GRCm39) missense probably damaging 1.00
R4022:Ilrun UTSW 17 28,005,236 (GRCm39) missense probably damaging 0.97
R4604:Ilrun UTSW 17 28,039,289 (GRCm39) missense probably damaging 1.00
R5360:Ilrun UTSW 17 28,013,020 (GRCm39) missense probably damaging 1.00
R6210:Ilrun UTSW 17 27,986,960 (GRCm39) missense probably benign 0.12
R7201:Ilrun UTSW 17 28,013,044 (GRCm39) splice site probably null
R7994:Ilrun UTSW 17 27,986,917 (GRCm39) missense probably benign
R8057:Ilrun UTSW 17 27,986,863 (GRCm39) missense unknown
R8767:Ilrun UTSW 17 27,987,043 (GRCm39) missense probably benign 0.01
R9269:Ilrun UTSW 17 28,005,049 (GRCm39) nonsense probably null
R9629:Ilrun UTSW 17 28,012,913 (GRCm39) missense probably damaging 0.98
Posted On 2013-04-17