Incidental Mutation 'IGL02332:Ermard'
ID 288755
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 # IGL02332
Quality Score
Status
Chromosome 17
Chromosomal Location 15261813-15310307 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to C at 15210807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000060857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061688]
AlphaFold E9Q048
Predicted Effect probably null
Transcript: ENSMUST00000061688
SMART Domains Protein: ENSMUSP00000060857
Gene: ENSMUSG00000116953

DomainStartEndE-ValueType
Pfam:DUF4209 133 214 3.6e-27 PFAM
low complexity region 390 399 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232182
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B24Rik A G 3: 48,563,323 (GRCm39) noncoding transcript Het
Abca13 A T 11: 9,241,482 (GRCm39) Y1115F probably damaging Het
Adam29 T A 8: 56,324,775 (GRCm39) I560F probably damaging Het
Bivm T C 1: 44,167,880 (GRCm39) probably benign Het
Brinp1 C A 4: 68,823,121 (GRCm39) R24L probably benign Het
Cnga1 A G 5: 72,761,829 (GRCm39) Y562H probably damaging Het
Cr2 C A 1: 194,842,630 (GRCm39) Q256H probably benign Het
Dhcr7 A T 7: 143,396,865 (GRCm39) N119I probably damaging Het
Dio1 A T 4: 107,150,978 (GRCm39) Y169N probably damaging Het
Dmbt1 C T 7: 130,668,343 (GRCm39) probably benign Het
Eogt T G 6: 97,102,566 (GRCm39) H249P probably damaging Het
Exoc4 T C 6: 33,226,175 (GRCm39) probably null Het
Fxr2 G T 11: 69,540,664 (GRCm39) probably null Het
Glyr1 G T 16: 4,836,817 (GRCm39) T443N probably damaging Het
Gm14137 T G 2: 119,005,807 (GRCm39) L122R probably damaging Het
Gm4845 C A 1: 141,184,335 (GRCm39) noncoding transcript Het
Gm8258 A G 5: 104,923,768 (GRCm39) noncoding transcript Het
Gmps G A 3: 63,897,990 (GRCm39) R258H probably benign Het
Itga6 T G 2: 71,668,717 (GRCm39) L552R possibly damaging Het
Itgam T A 7: 127,684,846 (GRCm39) probably null Het
Itgb5 G T 16: 33,740,500 (GRCm39) E224* probably null Het
Itih4 C A 14: 30,609,817 (GRCm39) A49D probably damaging Het
Itpr2 A T 6: 146,328,040 (GRCm39) N64K probably damaging Het
Moap1 T C 12: 102,709,066 (GRCm39) Y161C probably benign Het
Mst1r G T 9: 107,785,025 (GRCm39) G228* probably null Het
Myo1g T C 11: 6,470,766 (GRCm39) D30G possibly damaging Het
Ndn T A 7: 61,998,573 (GRCm39) C140S probably damaging Het
Nek5 G T 8: 22,585,277 (GRCm39) Q367K probably benign Het
Nrdc A T 4: 108,858,185 (GRCm39) R52S probably damaging Het
Nup133 A T 8: 124,634,571 (GRCm39) L1007Q probably damaging Het
Or51k2 T C 7: 103,596,127 (GRCm39) M118T probably damaging Het
Or5be3 T C 2: 86,864,556 (GRCm39) D3G probably benign Het
Or5d47 A T 2: 87,804,409 (GRCm39) L200Q probably damaging Het
P2rx2 T C 5: 110,489,671 (GRCm39) S116G probably benign Het
Pcdhb13 G A 18: 37,576,635 (GRCm39) V338M probably benign Het
Pdcl2 A T 5: 76,466,982 (GRCm39) Y70* probably null Het
Ppm1e T C 11: 87,122,568 (GRCm39) H463R probably benign Het
Ppm1f T A 16: 16,731,951 (GRCm39) C134S possibly damaging Het
Ppp2r3d A G 9: 101,057,602 (GRCm39) F180L possibly damaging Het
Pxn A G 5: 115,682,985 (GRCm39) S96G probably benign Het
Rasa4 G T 5: 136,124,453 (GRCm39) Q167H probably benign Het
Rfx8 T C 1: 39,757,640 (GRCm39) I43V possibly damaging Het
Sez6 C T 11: 77,845,568 (GRCm39) probably benign Het
Slc39a6 A T 18: 24,722,880 (GRCm39) D473E probably benign Het
Spocd1 A G 4: 129,842,885 (GRCm39) D68G probably damaging Het
Syt13 T C 2: 92,771,149 (GRCm39) F79L probably benign Het
Tas2r103 A T 6: 133,013,475 (GRCm39) M197K probably benign Het
Tbrg4 A G 11: 6,568,492 (GRCm39) V429A probably damaging Het
Tuft1 A C 3: 94,523,075 (GRCm39) probably null Het
Uqcrc1 A G 9: 108,776,937 (GRCm39) T80A probably damaging Het
Vps18 A G 2: 119,124,291 (GRCm39) N406S probably benign Het
Xrn2 T A 2: 146,868,510 (GRCm39) W188R probably damaging Het
Zzef1 T G 11: 72,807,335 (GRCm39) S2738A probably benign 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
IGL01832:Ermard APN 17 15,280,111 (GRCm39) missense probably damaging 0.98
IGL02045:Ermard APN 17 15,271,826 (GRCm39) unclassified probably benign
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 2015-04-16