Incidental Mutation 'R0361:Ermp1'
ID 30153
Institutional Source Beutler Lab
Gene Symbol Ermp1
Ensembl Gene ENSMUSG00000046324
Gene Name endoplasmic reticulum metallopeptidase 1
Synonyms D19Wsu12e, D19Ertd410e, b2b2633Clo
MMRRC Submission 038567-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0361 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 29587276-29625815 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29608806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 158 (Y158N)
Ref Sequence ENSEMBL: ENSMUSP00000124992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054083] [ENSMUST00000159692] [ENSMUST00000162534]
AlphaFold Q3UVK0
Predicted Effect probably benign
Transcript: ENSMUST00000054083
SMART Domains Protein: ENSMUSP00000057069
Gene: ENSMUSG00000046324

DomainStartEndE-ValueType
SCOP:d1amp__ 31 159 3e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159243
Predicted Effect probably damaging
Transcript: ENSMUST00000159692
AA Change: Y345N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124881
Gene: ENSMUSG00000046324
AA Change: Y345N

DomainStartEndE-ValueType
low complexity region 9 26 N/A INTRINSIC
low complexity region 65 94 N/A INTRINSIC
Pfam:Peptidase_M28 179 373 1.3e-49 PFAM
Pfam:Peptidase_M20 184 375 2.9e-8 PFAM
transmembrane domain 405 427 N/A INTRINSIC
transmembrane domain 444 466 N/A INTRINSIC
transmembrane domain 481 503 N/A INTRINSIC
transmembrane domain 516 538 N/A INTRINSIC
transmembrane domain 543 562 N/A INTRINSIC
transmembrane domain 575 597 N/A INTRINSIC
transmembrane domain 617 639 N/A INTRINSIC
transmembrane domain 646 668 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161124
Predicted Effect probably damaging
Transcript: ENSMUST00000162534
AA Change: Y158N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124992
Gene: ENSMUSG00000046324
AA Change: Y158N

DomainStartEndE-ValueType
Pfam:Peptidase_M28 5 176 2.4e-40 PFAM
Pfam:Peptidase_M20 8 168 1.3e-8 PFAM
transmembrane domain 218 240 N/A INTRINSIC
transmembrane domain 257 279 N/A INTRINSIC
transmembrane domain 294 316 N/A INTRINSIC
transmembrane domain 329 351 N/A INTRINSIC
transmembrane domain 356 375 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency 100% (1/1)
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects including double outlet right ventricle, aortic arch anomalies and vascular ring, as well as anopthalmia, renal dysplasia, and craniofacial anomalies including short snout, cleft palate and cleft lip. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T G 3: 124,207,283 (GRCm39) T303P possibly damaging Het
1700010I14Rik G T 17: 9,211,378 (GRCm39) V176L probably benign Het
1700034J05Rik T C 6: 146,853,869 (GRCm39) T262A possibly damaging Het
Adgrl3 A T 5: 81,908,544 (GRCm39) I1165F probably damaging Het
Ankhd1 T C 18: 36,780,267 (GRCm39) I1773T probably damaging Het
Api5 A T 2: 94,253,842 (GRCm39) L287* probably null Het
Apol10b A T 15: 77,469,586 (GRCm39) M197K possibly damaging Het
Bcl2 G A 1: 106,640,424 (GRCm39) R63W probably damaging Het
Cacna1h A G 17: 25,608,396 (GRCm39) M731T probably damaging Het
Cav1 C A 6: 17,339,352 (GRCm39) R146S possibly damaging Het
Cdhr2 A T 13: 54,881,820 (GRCm39) I1118F probably damaging Het
Cdk7 A T 13: 100,848,062 (GRCm39) Y153* probably null Het
Cemip A G 7: 83,613,218 (GRCm39) I660T probably benign Het
Cfap65 A T 1: 74,964,599 (GRCm39) L518Q probably damaging Het
Cgas T A 9: 78,340,534 (GRCm39) K399N probably damaging Het
Cngb3 A G 4: 19,366,467 (GRCm39) H176R probably benign Het
Cstdc4 T C 16: 36,004,648 (GRCm39) S7P probably damaging Het
Cux1 T A 5: 136,308,351 (GRCm39) I1263F probably damaging Het
Dnajc13 A G 9: 104,044,258 (GRCm39) M1867T probably benign Het
Dock2 A G 11: 34,388,327 (GRCm39) L202P probably damaging Het
Dyrk3 A G 1: 131,057,769 (GRCm39) S100P probably benign Het
Efr3b A T 12: 4,027,923 (GRCm39) S376T probably benign Het
Eps8l2 A C 7: 140,936,112 (GRCm39) N222T probably benign Het
Fam13a A G 6: 58,964,159 (GRCm39) V91A probably benign Het
Fat3 A G 9: 15,909,699 (GRCm39) V2101A possibly damaging Het
Fsip2 T C 2: 82,805,849 (GRCm39) S723P possibly damaging Het
Garem1 G T 18: 21,432,801 (GRCm39) C9* probably null Het
Gdpd5 A G 7: 99,107,997 (GRCm39) I530V possibly damaging Het
Gm15217 T A 14: 46,617,841 (GRCm39) probably benign Het
Gm4922 T C 10: 18,659,289 (GRCm39) T478A probably benign Het
H2-M5 A G 17: 37,298,328 (GRCm39) I329T possibly damaging Het
Ing4 G A 6: 125,024,857 (GRCm39) C200Y probably damaging Het
Kcnip1 A T 11: 33,793,177 (GRCm39) M5K probably benign Het
Kdsr T C 1: 106,675,517 (GRCm39) E102G probably damaging Het
Krt15 C T 11: 100,024,007 (GRCm39) V346M probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrrc55 A T 2: 85,026,589 (GRCm39) M145K probably damaging Het
Lrrtm2 A G 18: 35,345,985 (GRCm39) I439T probably benign Het
Map2k6 T C 11: 110,390,335 (GRCm39) F290L probably damaging Het
Me1 T A 9: 86,533,055 (GRCm39) I136F probably damaging Het
Mfap2 A G 4: 140,742,294 (GRCm39) D98G probably damaging Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mst1 T C 9: 107,962,096 (GRCm39) F696L probably damaging Het
Mta1 A G 12: 113,096,961 (GRCm39) probably null Het
Myh15 A T 16: 48,934,368 (GRCm39) N645I probably benign Het
Myo7b T A 18: 32,147,262 (GRCm39) I94F probably damaging Het
Nefh A T 11: 4,890,799 (GRCm39) S607T probably benign Het
Noa1 G A 5: 77,445,020 (GRCm39) Q600* probably null Het
Nr2f2 A G 7: 70,007,810 (GRCm39) V71A possibly damaging Het
Oas2 A T 5: 120,876,466 (GRCm39) F492L probably damaging Het
Olfm3 T A 3: 114,914,622 (GRCm39) D211E probably damaging Het
Or2y17 A T 11: 49,231,641 (GRCm39) Y94F probably benign Het
Osmr A G 15: 6,871,432 (GRCm39) probably null Het
Plagl2 A T 2: 153,073,523 (GRCm39) D459E probably benign Het
Plch2 T C 4: 155,091,168 (GRCm39) D148G possibly damaging Het
Plxnc1 C A 10: 94,700,869 (GRCm39) C605F probably damaging Het
Ppm1m T C 9: 106,075,325 (GRCm39) E108G probably damaging Het
Prr14l A C 5: 32,950,985 (GRCm39) L1936R probably damaging Het
Ralgapa1 A G 12: 55,723,354 (GRCm39) I1771T possibly damaging Het
Rhobtb2 T C 14: 70,033,357 (GRCm39) T538A probably benign Het
Rictor A G 15: 6,813,588 (GRCm39) N1025D possibly damaging Het
Sec23a T G 12: 59,037,804 (GRCm39) D324A probably damaging Het
Srgap1 A T 10: 121,883,097 (GRCm39) M1K probably null Het
Syne2 T A 12: 75,965,384 (GRCm39) F801I probably benign Het
Synrg T A 11: 83,915,163 (GRCm39) probably null Het
Tas2r140 T G 6: 40,468,232 (GRCm39) F21V probably benign Het
Tmem260 A T 14: 48,689,504 (GRCm39) T108S possibly damaging Het
Trim2 T C 3: 84,098,083 (GRCm39) Y406C probably damaging Het
Ttn T C 2: 76,673,746 (GRCm39) probably benign Het
Vmn1r53 A T 6: 90,201,064 (GRCm39) S87T possibly damaging Het
Vmn2r115 T A 17: 23,564,196 (GRCm39) Y123N probably benign Het
Vmn2r28 T A 7: 5,496,715 (GRCm39) I46F probably benign Het
Zan T C 5: 137,395,028 (GRCm39) T4381A unknown Het
Zfp457 A G 13: 67,440,710 (GRCm39) F622L probably damaging Het
Zfp994 A T 17: 22,419,091 (GRCm39) N619K probably benign Het
Zfy1 T C Y: 726,121 (GRCm39) H548R possibly damaging Het
Zmym4 A T 4: 126,804,938 (GRCm39) S441T probably benign Het
Other mutations in Ermp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01613:Ermp1 APN 19 29,617,339 (GRCm39) missense probably damaging 1.00
IGL01696:Ermp1 APN 19 29,623,538 (GRCm39) missense possibly damaging 0.65
IGL01759:Ermp1 APN 19 29,593,236 (GRCm39) missense probably benign 0.03
IGL01891:Ermp1 APN 19 29,594,002 (GRCm39) missense probably benign 0.16
IGL02008:Ermp1 APN 19 29,590,320 (GRCm39) missense probably damaging 1.00
IGL02034:Ermp1 APN 19 29,623,359 (GRCm39) splice site probably benign
IGL02655:Ermp1 APN 19 29,623,610 (GRCm39) nonsense probably null
IGL03074:Ermp1 APN 19 29,589,935 (GRCm39) missense probably damaging 1.00
PIT4366001:Ermp1 UTSW 19 29,606,189 (GRCm39) missense probably benign 0.24
R0050:Ermp1 UTSW 19 29,606,184 (GRCm39) missense probably damaging 0.96
R0050:Ermp1 UTSW 19 29,606,184 (GRCm39) missense probably damaging 0.96
R0096:Ermp1 UTSW 19 29,608,788 (GRCm39) missense possibly damaging 0.91
R0096:Ermp1 UTSW 19 29,608,788 (GRCm39) missense possibly damaging 0.91
R0684:Ermp1 UTSW 19 29,609,941 (GRCm39) splice site probably benign
R0711:Ermp1 UTSW 19 29,608,788 (GRCm39) missense possibly damaging 0.91
R1167:Ermp1 UTSW 19 29,606,079 (GRCm39) missense possibly damaging 0.53
R1869:Ermp1 UTSW 19 29,623,415 (GRCm39) missense possibly damaging 0.66
R1884:Ermp1 UTSW 19 29,594,079 (GRCm39) missense probably benign 0.00
R2094:Ermp1 UTSW 19 29,617,328 (GRCm39) missense probably benign 0.09
R2135:Ermp1 UTSW 19 29,623,465 (GRCm39) missense possibly damaging 0.81
R2153:Ermp1 UTSW 19 29,614,798 (GRCm39) critical splice acceptor site probably null
R2290:Ermp1 UTSW 19 29,601,178 (GRCm39) missense probably damaging 1.00
R4176:Ermp1 UTSW 19 29,623,365 (GRCm39) critical splice donor site probably null
R4363:Ermp1 UTSW 19 29,590,276 (GRCm39) missense probably damaging 1.00
R4579:Ermp1 UTSW 19 29,594,051 (GRCm39) missense probably damaging 0.98
R4761:Ermp1 UTSW 19 29,623,656 (GRCm39) missense probably benign 0.03
R5801:Ermp1 UTSW 19 29,590,228 (GRCm39) missense probably damaging 1.00
R5931:Ermp1 UTSW 19 29,593,129 (GRCm39) missense probably benign 0.01
R6129:Ermp1 UTSW 19 29,600,609 (GRCm39) missense possibly damaging 0.95
R6556:Ermp1 UTSW 19 29,590,321 (GRCm39) missense possibly damaging 0.91
R6563:Ermp1 UTSW 19 29,601,178 (GRCm39) missense probably damaging 1.00
R6598:Ermp1 UTSW 19 29,609,902 (GRCm39) missense possibly damaging 0.82
R6647:Ermp1 UTSW 19 29,604,335 (GRCm39) missense probably benign 0.27
R6850:Ermp1 UTSW 19 29,594,041 (GRCm39) missense probably damaging 1.00
R6912:Ermp1 UTSW 19 29,594,011 (GRCm39) missense probably benign 0.02
R7341:Ermp1 UTSW 19 29,623,654 (GRCm39) missense probably benign 0.20
R7391:Ermp1 UTSW 19 29,604,469 (GRCm39) critical splice acceptor site probably null
R7391:Ermp1 UTSW 19 29,604,468 (GRCm39) critical splice acceptor site probably null
R7463:Ermp1 UTSW 19 29,623,662 (GRCm39) nonsense probably null
R7471:Ermp1 UTSW 19 29,590,054 (GRCm39) missense probably benign 0.06
R7831:Ermp1 UTSW 19 29,595,367 (GRCm39) missense probably benign 0.00
R7836:Ermp1 UTSW 19 29,609,788 (GRCm39) splice site probably null
R7923:Ermp1 UTSW 19 29,606,058 (GRCm39) missense probably benign 0.01
R8113:Ermp1 UTSW 19 29,593,196 (GRCm39) missense probably benign 0.00
R8116:Ermp1 UTSW 19 29,601,196 (GRCm39) missense probably damaging 0.98
R8692:Ermp1 UTSW 19 29,594,093 (GRCm39) missense probably benign 0.04
R9083:Ermp1 UTSW 19 29,623,415 (GRCm39) missense probably benign 0.00
R9180:Ermp1 UTSW 19 29,609,845 (GRCm39) missense probably benign 0.34
R9292:Ermp1 UTSW 19 29,606,049 (GRCm39) missense probably benign 0.01
R9460:Ermp1 UTSW 19 29,609,916 (GRCm39) missense probably benign 0.03
R9613:Ermp1 UTSW 19 29,617,256 (GRCm39) critical splice donor site probably null
R9684:Ermp1 UTSW 19 29,594,106 (GRCm39) missense probably benign 0.45
Z1088:Ermp1 UTSW 19 29,590,325 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTGCAAGTCTGTAACGCATTTGGC -3'
(R):5'- CTCACCAAAGCAGCGTTCTTGATG -3'

Sequencing Primer
(F):5'- GGCCACATACTGTCTCTCTC -3'
(R):5'- GGTTCGTAACTGCCCAAATTC -3'
Posted On 2013-04-24