Incidental Mutation 'IGL02525:Ermard'
ID297075
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ermard
Ensembl Gene ENSMUSG00000036552
Gene NameER membrane associated RNA degradation
Synonyms2410011O22Rik, 2210404J11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.204) question?
Stock #IGL02525
Quality Score
Status
Chromosome17
Chromosomal Location15041208-15090044 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 15059339 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040594] [ENSMUST00000097393] [ENSMUST00000227252] [ENSMUST00000228803]
Predicted Effect probably benign
Transcript: ENSMUST00000040594
SMART Domains Protein: ENSMUSP00000043677
Gene: ENSMUSG00000036552

DomainStartEndE-ValueType
transmembrane domain 130 152 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097393
SMART Domains Protein: ENSMUSP00000095005
Gene: ENSMUSG00000036552

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 probably benign
Transcript: ENSMUST00000228803
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 C T 8: 24,611,044 V701I probably benign Het
Adam18 A G 8: 24,641,767 probably benign Het
Adamts20 G T 15: 94,283,078 probably null Het
Adgrf5 G T 17: 43,449,963 V850F probably damaging Het
Agap2 T A 10: 127,083,201 probably null Het
Ap4b1 G A 3: 103,812,848 R62K probably damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Ccdc12 T A 9: 110,711,101 D120E probably damaging Het
Ccdc22 A G X: 7,595,010 S529P probably damaging Het
Col1a2 A G 6: 4,531,355 probably benign Het
Ddx59 A T 1: 136,417,005 Q138L probably benign Het
Dlc1 A T 8: 36,579,646 F1091L probably damaging Het
Dnah1 C T 14: 31,305,833 V682M probably benign Het
Dock9 C T 14: 121,640,126 D404N probably damaging Het
Eif2b4 A G 5: 31,189,618 V402A probably damaging Het
Erlin1 T C 19: 44,039,195 H268R probably benign Het
Fam43a A G 16: 30,600,778 K60R probably benign Het
Frmd4b T A 6: 97,412,533 D78V probably damaging Het
Gabrq A G X: 72,836,824 T308A possibly damaging Het
Gipr A G 7: 19,159,765 C328R possibly damaging Het
Gm17078 T C 14: 51,611,223 N19S possibly damaging Het
Gm17541 T C 12: 4,689,907 probably benign Het
Gm21759 T C 5: 8,179,967 probably benign Het
Gm7964 A G 7: 83,756,042 noncoding transcript Het
Gspt1 A G 16: 11,230,990 V318A probably damaging Het
Gtf2ird2 A G 5: 134,216,477 S526G probably benign Het
Hey2 A G 10: 30,842,647 M1T probably null Het
Hipk3 T C 2: 104,471,412 D145G probably damaging Het
Ick A G 9: 78,160,393 K390E probably benign Het
Itgae A G 11: 73,130,951 D886G probably damaging Het
Ktn1 T A 14: 47,724,743 probably null Het
Med12l A G 3: 59,068,368 K239R probably benign Het
Milr1 A T 11: 106,765,275 M124L probably benign Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Mterf1a G A 5: 3,891,583 S95F probably benign Het
Myef2 C A 2: 125,114,058 probably benign Het
Nfrkb T A 9: 31,414,516 I1085N possibly damaging Het
Olfr275 A T 4: 52,825,616 Y73F probably damaging Het
Olfr924 T A 9: 38,848,240 M42K possibly damaging Het
Prodh G A 16: 18,072,468 Q430* probably null Het
Pstk G T 7: 131,371,193 R7L probably benign Het
Ptgr1 C A 4: 58,978,067 E108D probably benign Het
Ptpn9 T A 9: 57,036,725 Y294* probably null Het
Rnls C T 19: 33,138,214 V153M possibly damaging Het
Ros1 T C 10: 52,116,042 T1362A possibly damaging Het
Samt3 G A X: 86,046,921 A140T possibly damaging Het
Sbpl T A 17: 23,954,863 M16L unknown Het
Sephs1 G A 2: 4,906,596 C327Y probably damaging Het
Slc13a1 A T 6: 24,137,136 I93N probably damaging Het
Slc34a1 T C 13: 55,403,238 probably benign Het
Slc7a9 T C 7: 35,453,435 S93P probably damaging Het
Slx4 A G 16: 3,980,597 S1444P probably damaging Het
Stk32b C T 5: 37,531,633 V116M probably damaging Het
Supt5 A G 7: 28,318,947 probably benign Het
Syne2 T A 12: 76,101,003 S6439T probably damaging Het
Taar7d A G 10: 24,028,096 D292G possibly damaging Het
Tal2 A T 4: 53,785,971 I51F probably damaging Het
Thegl T A 5: 77,016,553 D134E probably benign Het
Tk2 A T 8: 104,243,400 N77K probably benign Het
Tmprss3 T A 17: 31,194,891 probably benign Het
Tnfrsf10b T C 14: 69,782,376 M319T probably damaging Het
Trim24 A G 6: 37,945,718 R417G probably damaging Het
Ttn C A 2: 76,764,314 G18717* probably null Het
Vmn2r102 A G 17: 19,681,185 T525A probably benign Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wnt3 C T 11: 103,812,470 R260W probably damaging Het
Xdh T A 17: 73,924,995 Q240L possibly damaging Het
Zbtb5 T C 4: 44,994,731 T218A probably benign Het
Znfx1 C T 2: 167,037,537 E776K probably benign Het
Other mutations in Ermard
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00725:Ermard APN 17 14988066 splice site probably benign
IGL01554:Ermard APN 17 15051593 missense possibly damaging 0.94
IGL01832:Ermard APN 17 15059849 missense probably damaging 0.98
IGL02045:Ermard APN 17 15051564 unclassified probably benign
IGL02332:Ermard APN 17 14990545 critical splice acceptor site probably null
IGL03335:Ermard APN 17 15059406 missense probably damaging 1.00
Angelos UTSW 17 15059770 missense possibly damaging 0.73
Eminence UTSW 17 15053205 splice site probably null
Rechthand UTSW 17 15059334 splice site probably benign
PIT4504001:Ermard UTSW 17 15058822 nonsense probably null
R0211:Ermard UTSW 17 15021943 missense probably damaging 0.99
R0211:Ermard UTSW 17 15021943 missense probably damaging 0.99
R0722:Ermard UTSW 17 15022128 missense probably benign 0.13
R0785:Ermard UTSW 17 15021977 missense probably damaging 1.00
R2019:Ermard UTSW 17 15053265 missense probably damaging 1.00
R3696:Ermard UTSW 17 15053376 missense probably benign 0.01
R3697:Ermard UTSW 17 15053376 missense probably benign 0.01
R4077:Ermard UTSW 17 15053376 missense probably benign 0.04
R4383:Ermard UTSW 17 15059866 missense possibly damaging 0.87
R5424:Ermard UTSW 17 15059770 missense possibly damaging 0.73
R6313:Ermard UTSW 17 15053205 splice site probably null
R7685:Ermard UTSW 17 15059462 missense probably benign 0.00
R7800:Ermard UTSW 17 15056803 missense probably benign 0.01
R7802:Ermard UTSW 17 15061161 missense probably benign
R7895:Ermard UTSW 17 15063613 missense possibly damaging 0.66
R8203:Ermard UTSW 17 15020286 missense possibly damaging 0.73
R8229:Ermard UTSW 17 15059334 splice site probably benign
R8318:Ermard UTSW 17 15022072 missense possibly damaging 0.86
R8369:Ermard UTSW 17 15053298 missense probably damaging 0.99
Posted On2015-04-16