Incidental Mutation 'R6912:Ermp1'
ID 539135
Institutional Source Beutler Lab
Gene Symbol Ermp1
Ensembl Gene ENSMUSG00000046324
Gene Name endoplasmic reticulum metallopeptidase 1
Synonyms D19Wsu12e, D19Ertd410e, b2b2633Clo
MMRRC Submission 045004-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6912 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 29587276-29625815 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29594011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 720 (I720F)
Ref Sequence ENSEMBL: ENSMUSP00000124881 (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 probably benign
Transcript: ENSMUST00000159692
AA Change: I720F

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000124881
Gene: ENSMUSG00000046324
AA Change: I720F

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 probably benign
Transcript: ENSMUST00000162534
SMART Domains Protein: ENSMUSP00000124992
Gene: ENSMUSG00000046324

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 100% (79/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik G A 7: 43,150,571 (GRCm39) T67I possibly damaging Het
Abca5 A T 11: 110,197,106 (GRCm39) M524K probably benign Het
Aco2 G A 15: 81,779,597 (GRCm39) V134I probably benign Het
Acsf2 C T 11: 94,461,206 (GRCm39) M323I probably benign Het
Acvr1 T C 2: 58,337,585 (GRCm39) D499G probably benign Het
Armc5 G A 7: 127,839,597 (GRCm39) C305Y probably damaging Het
Astl T C 2: 127,198,306 (GRCm39) I286T probably benign Het
Atp8a2 G A 14: 60,249,859 (GRCm39) S544L probably benign Het
Bbs7 G T 3: 36,659,853 (GRCm39) A194E probably benign Het
Brca2 A G 5: 150,465,207 (GRCm39) D1657G probably damaging Het
Cfap46 G A 7: 139,219,616 (GRCm39) S1283L probably benign Het
Creld2 T C 15: 88,704,200 (GRCm39) S64P probably damaging Het
Crtc1 T C 8: 70,850,961 (GRCm39) E217G probably damaging Het
Cyp2d26 C T 15: 82,675,320 (GRCm39) V345M probably benign Het
Cyp2j11 T C 4: 96,183,108 (GRCm39) M487V probably benign Het
Dnah12 T C 14: 26,600,036 (GRCm39) I3692T probably damaging Het
Dnah14 A T 1: 181,577,748 (GRCm39) T3022S possibly damaging Het
Dtnb A T 12: 3,698,221 (GRCm39) probably null Het
Erf T C 7: 24,944,003 (GRCm39) T443A possibly damaging Het
Fam83b T A 9: 76,398,214 (GRCm39) E963V probably damaging Het
Fat1 T A 8: 45,504,060 (GRCm39) S4463T probably benign Het
Fbxw27 T A 9: 109,617,148 (GRCm39) K118* probably null Het
Fcgbp A T 7: 27,789,129 (GRCm39) Y565F probably benign Het
Garre1 A G 7: 33,945,093 (GRCm39) S384P probably benign Het
Gm128 A T 3: 95,147,740 (GRCm39) S185T probably benign Het
Gm6309 C T 5: 146,105,640 (GRCm39) E175K probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gprin2 T C 14: 33,916,597 (GRCm39) Y391C probably damaging Het
Hexa T C 9: 59,447,221 (GRCm39) L72P probably damaging Het
Il31ra T A 13: 112,685,998 (GRCm39) D124V probably damaging Het
Kdm2a C T 19: 4,372,529 (GRCm39) A939T probably benign Het
Kif16b A G 2: 142,542,019 (GRCm39) probably benign Het
Kndc1 A T 7: 139,490,194 (GRCm39) D232V probably damaging Het
Lrrc37a T G 11: 103,348,369 (GRCm39) R2775S unknown Het
Luc7l3 C T 11: 94,200,462 (GRCm39) R52H probably damaging Het
Mapk15 A T 15: 75,865,747 (GRCm39) R13S probably damaging Het
Mdga2 G T 12: 66,552,889 (GRCm39) Q187K probably benign Het
Mfsd2b G A 12: 4,920,611 (GRCm39) Q69* probably null Het
Mlph A T 1: 90,873,342 (GRCm39) D551V probably damaging Het
Mup5 A T 4: 61,752,806 (GRCm39) F72L probably benign Het
Narf T C 11: 121,129,287 (GRCm39) S24P probably benign Het
Ncapg2 A G 12: 116,390,202 (GRCm39) I384V probably benign Het
Neo1 T C 9: 58,824,335 (GRCm39) T698A probably benign Het
Nox3 A G 17: 3,736,198 (GRCm39) S143P probably damaging Het
Nrros T C 16: 31,981,057 (GRCm39) R24G probably null Het
Or10ak9 T A 4: 118,726,335 (GRCm39) M119K probably damaging Het
Or6b1 T C 6: 42,815,736 (GRCm39) V307A probably benign Het
Pde9a T C 17: 31,685,386 (GRCm39) S347P possibly damaging Het
Pitpnm3 T C 11: 71,961,222 (GRCm39) D315G probably benign Het
Plaat5 A G 19: 7,616,830 (GRCm39) probably benign Het
Plekha6 C T 1: 133,200,273 (GRCm39) A284V probably benign Het
Plekhg2 A G 7: 28,059,684 (GRCm39) V1215A probably benign Het
Ppif C A 14: 25,698,711 (GRCm39) A144E probably damaging Het
Ppp1r10 T C 17: 36,240,453 (GRCm39) V581A possibly damaging Het
Prr12 A G 7: 44,698,269 (GRCm39) probably benign Het
Rfx6 T C 10: 51,599,949 (GRCm39) V565A probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Saxo2 A G 7: 82,284,402 (GRCm39) V152A possibly damaging Het
Sdk2 T C 11: 113,793,946 (GRCm39) D86G probably benign Het
Shroom3 A T 5: 93,090,876 (GRCm39) M1128L probably benign Het
Smok2a C A 17: 13,444,543 (GRCm39) T40K probably benign Het
Tatdn1 C T 15: 58,793,118 (GRCm39) probably null Het
Tbc1d2 C A 4: 46,649,712 (GRCm39) G108V probably damaging Het
Tbck T C 3: 132,392,703 (GRCm39) I48T possibly damaging Het
Tm7sf3 A G 6: 146,527,601 (GRCm39) F75S possibly damaging Het
Tmx4 T C 2: 134,440,719 (GRCm39) D245G probably benign Het
Trim68 A T 7: 102,333,675 (GRCm39) D2E probably damaging Het
Trps1 T A 15: 50,685,694 (GRCm39) Q157L possibly damaging Het
Ttc22 A G 4: 106,495,800 (GRCm39) T385A probably benign Het
Ubap2l A T 3: 89,946,155 (GRCm39) F150I possibly damaging Het
Ube2u C T 4: 100,389,352 (GRCm39) R105W probably damaging Het
Ubr4 G A 4: 139,185,545 (GRCm39) probably null Het
Unc5b A G 10: 60,666,871 (GRCm39) L25P probably benign Het
Usp38 A G 8: 81,719,958 (GRCm39) S424P probably damaging Het
Vmn1r222 T A 13: 23,416,374 (GRCm39) S280C probably benign Het
Vmn1r59 A T 7: 5,457,599 (GRCm39) F54I probably benign Het
Vmn2r-ps117 T A 17: 19,047,464 (GRCm39) C536S probably damaging Het
Zkscan2 A C 7: 123,099,196 (GRCm39) 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
R0361:Ermp1 UTSW 19 29,608,806 (GRCm39) missense probably damaging 1.00
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
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'- AGCGCTTGACTGAGTTAAGG -3'
(R):5'- AGTGCCTGCTTGCTCCAG -3'

Sequencing Primer
(F):5'- GGTTAAATTTCACTGAATCCTGACAG -3'
(R):5'- GGATTTGAACTCAGGACCTTCAG -3'
Posted On 2018-11-06