Incidental Mutation 'IGL01832:Ermard'
ID 154810
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ermard
Ensembl Gene ENSMUSG00000036552
Gene Name ER membrane associated RNA degradation
Synonyms 2210404J11Rik, 2410011O22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.195) question?
Stock # IGL01832
Quality Score
Status
Chromosome 17
Chromosomal Location 15261813-15310307 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15280111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 87 (V87A)
Ref Sequence ENSEMBL: ENSMUSP00000043677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040594] [ENSMUST00000097393] [ENSMUST00000227252] [ENSMUST00000228803]
AlphaFold E9Q048
Predicted Effect probably damaging
Transcript: ENSMUST00000040594
AA Change: V87A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043677
Gene: ENSMUSG00000036552
AA Change: V87A

DomainStartEndE-ValueType
transmembrane domain 130 152 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000097393
AA Change: V535A

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000095005
Gene: ENSMUSG00000036552
AA Change: V535A

DomainStartEndE-ValueType
Pfam:DUF4209 133 214 3.1e-27 PFAM
low complexity region 390 399 N/A INTRINSIC
SCOP:g1pnb.1 429 478 4e-3 SMART
low complexity region 583 599 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187199
Predicted Effect probably benign
Transcript: ENSMUST00000227252
Predicted Effect possibly damaging
Transcript: ENSMUST00000228803
AA Change: V124A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231241
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231568
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 G A 8: 77,985,758 (GRCm39) T681I probably benign Het
Atg4b T C 1: 93,713,626 (GRCm39) probably benign Het
Atp10b T A 11: 43,125,262 (GRCm39) M1076K probably damaging Het
Atp23 A T 10: 126,730,214 (GRCm39) N111K probably damaging Het
Atxn2 C A 5: 121,944,331 (GRCm39) Y72* probably null Het
C1qtnf12 A G 4: 156,050,323 (GRCm39) D220G probably damaging Het
C2cd3 A T 7: 100,076,421 (GRCm39) T1171S possibly damaging Het
Ccdc15 G A 9: 37,222,640 (GRCm39) R585W probably damaging Het
Cep152 A C 2: 125,460,414 (GRCm39) Y179* probably null Het
Cpa2 T C 6: 30,551,998 (GRCm39) S242P probably benign Het
Ctps2 G T X: 161,719,699 (GRCm39) probably benign Het
Cttnbp2nl A G 3: 104,918,544 (GRCm39) S99P probably damaging Het
Ddx20 A G 3: 105,586,327 (GRCm39) S673P probably damaging Het
Erbb4 T C 1: 68,293,725 (GRCm39) K722R possibly damaging Het
Ercc8 A G 13: 108,305,993 (GRCm39) T123A probably damaging Het
Fkbp8 A G 8: 70,984,195 (GRCm39) H182R probably benign Het
Gab2 T C 7: 96,953,445 (GRCm39) L606P probably damaging Het
Gls C T 1: 52,207,568 (GRCm39) probably null Het
Hook3 A T 8: 26,562,393 (GRCm39) M224K possibly damaging Het
Itga5 T A 15: 103,264,376 (GRCm39) K298* probably null Het
Itprid2 G A 2: 79,481,762 (GRCm39) V481M possibly damaging Het
Lrrc74a C A 12: 86,808,488 (GRCm39) T422K probably benign Het
Myh9 A C 15: 77,675,953 (GRCm39) D244E probably benign Het
Ndrg4 A G 8: 96,439,947 (GRCm39) E349G probably damaging Het
Or9m2 T A 2: 87,820,513 (GRCm39) D19E probably benign Het
Otop2 T C 11: 115,217,769 (GRCm39) S202P probably benign Het
Plppr2 C A 9: 21,854,742 (GRCm39) R138S possibly damaging Het
Prkaca A C 8: 84,717,366 (GRCm39) K206N probably damaging Het
Ptpro C T 6: 137,370,666 (GRCm39) T589I possibly damaging Het
Ptprq A G 10: 107,401,700 (GRCm39) probably null Het
Slc16a5 T C 11: 115,355,827 (GRCm39) V96A probably benign Het
Tcerg1 A G 18: 42,707,620 (GRCm39) K1047E probably damaging Het
Tinag T C 9: 76,939,038 (GRCm39) K147E probably benign Het
Urgcp T C 11: 5,667,325 (GRCm39) T338A probably damaging Het
Wdr74 C T 19: 8,717,302 (GRCm39) R299C probably damaging Het
Zzef1 C T 11: 72,765,892 (GRCm39) S1473L probably damaging Het
Other mutations in Ermard
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00725:Ermard APN 17 15,208,328 (GRCm39) splice site probably benign
IGL01554:Ermard APN 17 15,271,855 (GRCm39) missense possibly damaging 0.94
IGL02045:Ermard APN 17 15,271,826 (GRCm39) unclassified probably benign
IGL02332:Ermard APN 17 15,210,807 (GRCm39) critical splice acceptor site probably null
IGL02525:Ermard APN 17 15,279,601 (GRCm39) splice site probably benign
IGL03335:Ermard APN 17 15,279,668 (GRCm39) missense probably damaging 1.00
Angelos UTSW 17 15,280,032 (GRCm39) missense possibly damaging 0.73
Eminence UTSW 17 15,273,467 (GRCm39) splice site probably null
R8203_ermard_787 UTSW 17 15,240,548 (GRCm39) missense possibly damaging 0.73
Rechthand UTSW 17 15,279,596 (GRCm39) splice site probably benign
sanctus UTSW 17 15,273,643 (GRCm39) missense probably benign 0.00
PIT4504001:Ermard UTSW 17 15,279,084 (GRCm39) nonsense probably null
R0211:Ermard UTSW 17 15,242,205 (GRCm39) missense probably damaging 0.99
R0211:Ermard UTSW 17 15,242,205 (GRCm39) missense probably damaging 0.99
R0722:Ermard UTSW 17 15,242,390 (GRCm39) missense probably benign 0.13
R0785:Ermard UTSW 17 15,242,239 (GRCm39) missense probably damaging 1.00
R2019:Ermard UTSW 17 15,273,527 (GRCm39) missense probably damaging 1.00
R3696:Ermard UTSW 17 15,273,638 (GRCm39) missense probably benign 0.01
R3697:Ermard UTSW 17 15,273,638 (GRCm39) missense probably benign 0.01
R4077:Ermard UTSW 17 15,273,638 (GRCm39) missense probably benign 0.04
R4383:Ermard UTSW 17 15,280,128 (GRCm39) missense possibly damaging 0.87
R5424:Ermard UTSW 17 15,280,032 (GRCm39) missense possibly damaging 0.73
R6313:Ermard UTSW 17 15,273,467 (GRCm39) splice site probably null
R7685:Ermard UTSW 17 15,279,724 (GRCm39) missense probably benign 0.00
R7800:Ermard UTSW 17 15,277,065 (GRCm39) missense probably benign 0.01
R7802:Ermard UTSW 17 15,281,423 (GRCm39) missense probably benign
R7895:Ermard UTSW 17 15,283,875 (GRCm39) missense possibly damaging 0.66
R8203:Ermard UTSW 17 15,240,548 (GRCm39) missense possibly damaging 0.73
R8229:Ermard UTSW 17 15,279,596 (GRCm39) splice site probably benign
R8318:Ermard UTSW 17 15,242,334 (GRCm39) missense possibly damaging 0.86
R8369:Ermard UTSW 17 15,273,560 (GRCm39) missense probably damaging 0.99
R9179:Ermard UTSW 17 15,273,495 (GRCm39) missense probably damaging 1.00
R9329:Ermard UTSW 17 15,273,643 (GRCm39) missense probably benign 0.00
R9449:Ermard UTSW 17 15,273,554 (GRCm39) missense possibly damaging 0.95
R9506:Ermard UTSW 17 15,281,368 (GRCm39) missense probably damaging 1.00
R9792:Ermard UTSW 17 15,281,441 (GRCm39) missense probably damaging 1.00
R9793:Ermard UTSW 17 15,281,441 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04