Incidental Mutation 'IGL02457:Erich5'
ID 294432
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Erich5
Ensembl Gene ENSMUSG00000044726
Gene Name glutamate rich 5
Synonyms BC030476
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # IGL02457
Quality Score
Status
Chromosome 15
Chromosomal Location 34453458-34474038 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 34470999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 76 (G76V)
Ref Sequence ENSEMBL: ENSMUSP00000058182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060894]
AlphaFold Q8K0S2
Predicted Effect probably damaging
Transcript: ENSMUST00000060894
AA Change: G76V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058182
Gene: ENSMUSG00000044726
AA Change: G76V

DomainStartEndE-ValueType
Pfam:DUF4573 95 251 4.6e-60 PFAM
coiled coil region 318 349 N/A INTRINSIC
low complexity region 353 358 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b A G 2: 181,136,127 (GRCm39) D343G probably benign Het
Acot10 T C 15: 20,666,229 (GRCm39) S171G possibly damaging Het
Actr3b T C 5: 26,054,160 (GRCm39) probably null Het
Adamts17 T C 7: 66,677,562 (GRCm39) M492T probably damaging Het
Akap4 A C X: 6,943,707 (GRCm39) N670T probably benign Het
Atrip A G 9: 108,894,299 (GRCm39) S55P possibly damaging Het
Bend3 A T 10: 43,385,946 (GRCm39) E113V probably damaging Het
Ccdc158 A C 5: 92,797,907 (GRCm39) I411S probably damaging Het
Cfap97 G T 8: 46,623,315 (GRCm39) C235F possibly damaging Het
Chil4 T C 3: 106,121,715 (GRCm39) N45D probably benign Het
Cripto C T 9: 110,771,691 (GRCm39) C32Y probably damaging Het
D430041D05Rik A G 2: 104,079,690 (GRCm39) V1131A probably damaging Het
Defb38 T C 8: 19,076,552 (GRCm39) probably benign Het
Dnah10 T A 5: 124,866,860 (GRCm39) W2260R probably damaging Het
Ecsit A G 9: 21,989,500 (GRCm39) S14P probably damaging Het
Eif3l T C 15: 78,962,296 (GRCm39) F106L probably benign Het
Evpl A G 11: 116,120,939 (GRCm39) L432P possibly damaging Het
Fbxw10 T C 11: 62,765,808 (GRCm39) F698L probably damaging Het
Frem2 A T 3: 53,428,470 (GRCm39) S2866T probably damaging Het
Fuca1 G A 4: 135,662,073 (GRCm39) V334I probably benign Het
Hprt1 T A X: 52,091,010 (GRCm39) H60Q probably benign Het
Kirrel2 T C 7: 30,152,165 (GRCm39) N481S probably damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lilrb4b T A 10: 51,357,334 (GRCm39) Y57N probably benign Het
Lix1l A G 3: 96,521,792 (GRCm39) Y126C probably damaging Het
Lox T C 18: 52,654,388 (GRCm39) D347G probably damaging Het
Mak16 C T 8: 31,654,753 (GRCm39) R147Q possibly damaging Het
Ndst2 G A 14: 20,779,622 (GRCm39) A206V possibly damaging Het
Or1ak2 A T 2: 36,827,760 (GRCm39) I210F probably damaging Het
Or2q1 T A 6: 42,795,176 (GRCm39) I257N probably damaging Het
Phldb1 T C 9: 44,627,771 (GRCm39) M225V probably benign Het
Pofut1 C T 2: 153,090,516 (GRCm39) Q137* probably null Het
Polr2a T C 11: 69,634,076 (GRCm39) probably benign Het
Prdm5 T A 6: 65,858,100 (GRCm39) L388Q probably damaging Het
Rad51c A G 11: 87,271,681 (GRCm39) S344P possibly damaging Het
Scart1 G A 7: 139,800,308 (GRCm39) G30S probably benign Het
Sdk1 C T 5: 141,938,771 (GRCm39) P398L probably damaging Het
Sec63 G A 10: 42,677,729 (GRCm39) probably benign Het
Sgo1 A T 17: 53,983,989 (GRCm39) L463Q probably damaging Het
Slc5a6 A G 5: 31,198,002 (GRCm39) L291P probably damaging Het
Smarcb1 T C 10: 75,757,205 (GRCm39) T9A probably benign Het
Sp3 A G 2: 72,801,813 (GRCm39) W67R probably damaging Het
Ssxb9 A C X: 21,041,234 (GRCm39) S23A probably benign Het
Syne1 A G 10: 5,292,167 (GRCm39) L1367S probably damaging Het
Tbc1d23 T A 16: 56,990,754 (GRCm39) I690F probably damaging Het
Tmed5 A T 5: 108,272,416 (GRCm39) S227R probably benign Het
Tnrc6c T A 11: 117,613,803 (GRCm39) S814T probably benign Het
Trbv2 C T 6: 41,024,905 (GRCm39) T107I probably benign Het
Trpm6 T C 19: 18,803,155 (GRCm39) V866A probably damaging Het
Trpm6 A T 19: 18,804,762 (GRCm39) K905* probably null Het
Ttn A G 2: 76,539,654 (GRCm39) V34444A probably benign Het
Vmn1r86 C T 7: 12,836,707 (GRCm39) M56I probably benign Het
Vmn2r17 A C 5: 109,601,012 (GRCm39) D770A probably damaging Het
Wnk4 T C 11: 101,160,389 (GRCm39) probably benign Het
Xaf1 T C 11: 72,194,257 (GRCm39) M46T possibly damaging Het
Other mutations in Erich5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02137:Erich5 APN 15 34,470,900 (GRCm39) missense probably damaging 0.98
IGL02237:Erich5 APN 15 34,471,482 (GRCm39) missense probably benign 0.13
R0311:Erich5 UTSW 15 34,473,085 (GRCm39) makesense probably null
R0625:Erich5 UTSW 15 34,471,515 (GRCm39) missense probably damaging 1.00
R2857:Erich5 UTSW 15 34,471,560 (GRCm39) missense probably damaging 1.00
R3745:Erich5 UTSW 15 34,470,878 (GRCm39) missense probably damaging 0.96
R4214:Erich5 UTSW 15 34,471,557 (GRCm39) missense possibly damaging 0.89
R4646:Erich5 UTSW 15 34,471,112 (GRCm39) missense possibly damaging 0.47
R6309:Erich5 UTSW 15 34,471,602 (GRCm39) missense probably benign
R7002:Erich5 UTSW 15 34,471,508 (GRCm39) missense probably damaging 0.98
R7151:Erich5 UTSW 15 34,471,095 (GRCm39) missense probably damaging 0.99
R8523:Erich5 UTSW 15 34,471,502 (GRCm39) missense probably benign 0.37
R8930:Erich5 UTSW 15 34,453,844 (GRCm39) missense probably benign 0.00
R8932:Erich5 UTSW 15 34,453,844 (GRCm39) missense probably benign 0.00
R9267:Erich5 UTSW 15 34,471,563 (GRCm39) missense possibly damaging 0.89
R9355:Erich5 UTSW 15 34,471,001 (GRCm39) missense probably damaging 1.00
X0024:Erich5 UTSW 15 34,470,983 (GRCm39) missense probably benign 0.07
Posted On 2015-04-16