Incidental Mutation 'R1869:Ermp1'
ID 210605
Institutional Source Beutler Lab
Gene Symbol Ermp1
Ensembl Gene ENSMUSG00000046324
Gene Name endoplasmic reticulum metallopeptidase 1
Synonyms D19Wsu12e, D19Ertd410e, b2b2633Clo
MMRRC Submission 039891-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1869 (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 G at 29623415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 192 (S192P)
Ref Sequence ENSEMBL: ENSMUSP00000124881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054083] [ENSMUST00000159692] [ENSMUST00000162534]
AlphaFold Q3UVK0
Predicted Effect probably benign
Transcript: ENSMUST00000054083
AA Change: S136P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000057069
Gene: ENSMUSG00000046324
AA Change: S136P

DomainStartEndE-ValueType
SCOP:d1amp__ 31 159 3e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159243
Predicted Effect possibly damaging
Transcript: ENSMUST00000159692
AA Change: S192P

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124881
Gene: ENSMUSG00000046324
AA Change: S192P

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: ENSMUST00000160907
Predicted Effect possibly damaging
Transcript: ENSMUST00000162534
AA Change: S5P

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124992
Gene: ENSMUSG00000046324
AA Change: S5P

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: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 92.9%
Validation Efficiency
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: 127 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik A G 11: 3,840,067 (GRCm39) L110P probably damaging Het
6030458C11Rik T C 15: 12,817,993 (GRCm39) D168G probably damaging Het
Abca13 A T 11: 9,242,134 (GRCm39) E1332D probably benign Het
Abhd11 A G 5: 135,040,471 (GRCm39) Y168C probably damaging Het
Actr5 A C 2: 158,480,643 (GRCm39) T554P probably damaging Het
Adam34l A T 8: 44,078,132 (GRCm39) Y697* probably null Het
Adamts16 A G 13: 70,883,866 (GRCm39) L1103P probably damaging Het
Adgrb3 A T 1: 25,865,519 (GRCm39) I108K possibly damaging Het
Agbl4 T A 4: 111,423,826 (GRCm39) M284K possibly damaging Het
Aoc3 T A 11: 101,222,293 (GRCm39) Y176* probably null Het
Aox1 A G 1: 58,115,262 (GRCm39) E749G probably damaging Het
Ap4b1 T A 3: 103,728,184 (GRCm39) Y399* probably null Het
Arhgef5 A T 6: 43,265,616 (GRCm39) I1553F probably damaging Het
Bag6 T C 17: 35,361,802 (GRCm39) V541A probably benign Het
Bdp1 A C 13: 100,178,709 (GRCm39) V1879G probably damaging Het
Bod1l G A 5: 41,991,018 (GRCm39) S179F possibly damaging Het
Bsnd C T 4: 106,343,833 (GRCm39) V158I probably benign Het
Cachd1 C A 4: 100,840,587 (GRCm39) H880N probably damaging Het
Ccdc27 T C 4: 154,111,220 (GRCm39) probably null Het
Cd74 C T 18: 60,943,484 (GRCm39) P190S probably benign Het
Cep68 A T 11: 20,190,217 (GRCm39) L265Q probably damaging Het
Cfap70 G A 14: 20,458,678 (GRCm39) Q772* probably null Het
CK137956 T A 4: 127,864,327 (GRCm39) S101C possibly damaging Het
Clca3a2 G A 3: 144,512,164 (GRCm39) T524M probably benign Het
Cxcr6 T C 9: 123,639,022 (GRCm39) S15P probably benign Het
Cyfip2 T A 11: 46,114,995 (GRCm39) Y904F probably benign Het
D130040H23Rik T A 8: 69,755,354 (GRCm39) I253N probably benign Het
Ddx56 C T 11: 6,213,993 (GRCm39) V389M possibly damaging Het
Dmp1 A T 5: 104,359,942 (GRCm39) D206V probably damaging Het
Dnah17 A T 11: 117,938,015 (GRCm39) C3350* probably null Het
Dst A T 1: 34,291,913 (GRCm39) S877C probably damaging Het
F13b G A 1: 139,438,672 (GRCm39) D359N probably benign Het
Fam171a1 A T 2: 3,227,189 (GRCm39) Q769L possibly damaging Het
Fap T C 2: 62,359,071 (GRCm39) R411G probably damaging Het
Fbn1 A G 2: 125,193,947 (GRCm39) V1340A probably benign Het
Fbxw19 T C 9: 109,311,100 (GRCm39) I370V probably benign Het
Foxi1 A T 11: 34,157,937 (GRCm39) N29K possibly damaging Het
Frem2 T G 3: 53,442,617 (GRCm39) D2640A probably benign Het
Fzd4 T C 7: 89,056,454 (GRCm39) V167A probably benign Het
Galnt3 T C 2: 65,928,123 (GRCm39) I258V possibly damaging Het
Galr2 T C 11: 116,174,069 (GRCm39) V233A possibly damaging Het
Gldc G T 19: 30,116,732 (GRCm39) Q407K probably benign Het
Gmcl1 T C 6: 86,674,498 (GRCm39) D460G probably benign Het
Gpr89 A G 3: 96,782,975 (GRCm39) I325T probably benign Het
Grap T A 11: 61,555,015 (GRCm39) Y61N possibly damaging Het
Hbs1l G T 10: 21,234,305 (GRCm39) probably null Het
Hexb T A 13: 97,327,767 (GRCm39) E134D probably benign Het
Hydin T A 8: 111,227,337 (GRCm39) V1507D possibly damaging Het
Igkv8-16 C A 6: 70,363,971 (GRCm39) G17V probably benign Het
Kdm4a T A 4: 117,996,068 (GRCm39) Q987L probably null Het
Krt76 A G 15: 101,797,922 (GRCm39) probably null Het
Lap3 T C 5: 45,660,729 (GRCm39) S238P probably benign Het
Letm2 T C 8: 26,071,729 (GRCm39) D391G probably damaging Het
Lipn A G 19: 34,058,139 (GRCm39) T287A possibly damaging Het
Macf1 T C 4: 123,244,921 (GRCm39) S466G probably damaging Het
Map3k5 C A 10: 20,007,855 (GRCm39) S1220* probably null Het
Map4 T A 9: 109,897,996 (GRCm39) S754R possibly damaging Het
Map4 T C 9: 109,864,032 (GRCm39) V419A probably benign Het
Mroh9 A G 1: 162,854,082 (GRCm39) S773P probably damaging Het
Mtus1 A C 8: 41,529,267 (GRCm39) probably null Het
Muc1 C T 3: 89,139,117 (GRCm39) P533S probably damaging Het
Muc13 A T 16: 33,624,970 (GRCm39) I282F probably damaging Het
Mucl3 A G 17: 35,949,305 (GRCm39) L98P possibly damaging Het
Myh14 T A 7: 44,261,067 (GRCm39) Q1816L possibly damaging Het
Nalcn A C 14: 123,831,965 (GRCm39) V103G possibly damaging Het
Nlrp9c G A 7: 26,084,245 (GRCm39) Q445* probably null Het
Olfml2b A G 1: 170,496,812 (GRCm39) D481G probably damaging Het
Or13g1 T A 7: 85,955,875 (GRCm39) I149F possibly damaging Het
Or2ag19 T G 7: 106,444,301 (GRCm39) I161S probably benign Het
Or5g23 A G 2: 85,438,844 (GRCm39) S137P probably benign Het
Or8b37 T A 9: 37,959,498 (GRCm39) probably null Het
Or8k3b T A 2: 86,520,735 (GRCm39) I195F probably damaging Het
Pcdhb2 A T 18: 37,430,408 (GRCm39) probably null Het
Pcdhb22 A C 18: 37,652,200 (GRCm39) T223P probably damaging Het
Pcdhga1 T A 18: 37,973,143 (GRCm39) N907K probably damaging Het
Pcnt T C 10: 76,215,740 (GRCm39) E2347G probably null Het
Phax T A 18: 56,706,176 (GRCm39) V22D probably benign Het
Pik3ca T C 3: 32,504,499 (GRCm39) F667S probably damaging Het
Pkd1 T C 17: 24,813,905 (GRCm39) F4123S probably damaging Het
Pkhd1 A G 1: 20,685,491 (GRCm39) probably null Het
Plcb1 G A 2: 135,152,934 (GRCm39) R368K probably benign Het
Prrc2a G T 17: 35,372,284 (GRCm39) R1739S possibly damaging Het
Psg23 A T 7: 18,348,543 (GRCm39) M88K probably benign Het
Pstk T A 7: 130,989,526 (GRCm39) Y354N probably damaging Het
Rab39 A G 9: 53,617,231 (GRCm39) I62T possibly damaging Het
Ranbp2 A G 10: 58,328,383 (GRCm39) I2800V probably damaging Het
Rasgrp1 T C 2: 117,120,828 (GRCm39) Y431C probably damaging Het
Rest T A 5: 77,416,209 (GRCm39) V141E possibly damaging Het
Rnf167 T A 11: 70,540,965 (GRCm39) I197N possibly damaging Het
Rtn1 A G 12: 72,354,942 (GRCm39) S335P probably damaging Het
Ryr2 G T 13: 11,676,961 (GRCm39) R3297S probably damaging Het
S1pr3 A C 13: 51,573,952 (GRCm39) K378Q probably benign Het
Scgb1b24 T C 7: 33,443,469 (GRCm39) Y43H probably damaging Het
Sh3rf3 T A 10: 58,919,335 (GRCm39) M484K probably damaging Het
Shank1 A T 7: 43,991,539 (GRCm39) R69* probably null Het
Siglecf A G 7: 43,004,967 (GRCm39) N399S probably benign Het
Slc1a7 A G 4: 107,865,561 (GRCm39) T350A probably damaging Het
Slc25a54 T A 3: 108,987,932 (GRCm39) Y24* probably null Het
Slk T C 19: 47,613,891 (GRCm39) F916L probably damaging Het
Snap91 T A 9: 86,672,194 (GRCm39) probably null Het
Snrpb2 A T 2: 142,907,106 (GRCm39) R25S possibly damaging Het
Specc1l T C 10: 75,097,659 (GRCm39) Y811H probably damaging Het
Sprr2h A G 3: 92,293,925 (GRCm39) probably benign Het
Sult2a5 A T 7: 13,358,045 (GRCm39) I26F probably benign Het
Syt13 C T 2: 92,776,448 (GRCm39) T245I possibly damaging Het
Tecrl T A 5: 83,502,706 (GRCm39) T33S probably benign Het
Telo2 T A 17: 25,333,968 (GRCm39) D93V probably benign Het
Tet2 A T 3: 133,187,202 (GRCm39) probably null Het
Tgm7 A T 2: 120,931,570 (GRCm39) C198S probably damaging Het
Ticrr T C 7: 79,328,883 (GRCm39) F674S probably damaging Het
Tmem129 C A 5: 33,811,843 (GRCm39) C31F probably damaging Het
Tmem132a T A 19: 10,836,052 (GRCm39) D826V possibly damaging Het
Tpd52 T C 3: 9,018,862 (GRCm39) probably null Het
Trub2 A G 2: 29,667,678 (GRCm39) S321P probably benign Het
Ttc29 A G 8: 79,009,014 (GRCm39) T295A probably benign Het
Tubb1 G A 2: 174,298,482 (GRCm39) S89N probably benign Het
Tut4 T A 4: 108,386,497 (GRCm39) F1122L probably damaging Het
Ubap2 C A 4: 41,233,617 (GRCm39) G91V probably damaging Het
Ugt2b35 A G 5: 87,149,147 (GRCm39) N133D probably damaging Het
Usp34 A G 11: 23,314,479 (GRCm39) H807R probably benign Het
Vmn1r220 A C 13: 23,368,457 (GRCm39) C80G probably damaging Het
Vmn1r79 A G 7: 11,910,574 (GRCm39) E152G probably benign Het
Vmn2r28 T C 7: 5,489,345 (GRCm39) Y498C probably benign Het
Wif1 A G 10: 120,920,824 (GRCm39) I215M probably benign Het
Wnk1 T C 6: 119,928,050 (GRCm39) T1134A probably damaging Het
Zfp90 A G 8: 107,145,755 (GRCm39) H29R probably benign Het
Zfp972 A G 2: 177,563,480 (GRCm39) probably null 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
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'- AACATCTCATGTATTGCCATGGG -3'
(R):5'- ACCTTTTGGAGCAGATCAAGC -3'

Sequencing Primer
(F):5'- CCATGGGGTTTGTGTGCCAC -3'
(R):5'- CCTTTTGGAGCAGATCAAGCTGATAG -3'
Posted On 2014-06-30