Incidental Mutation 'PIT4366001:Ermp1'
ID 554798
Institutional Source Beutler Lab
Gene Symbol Ermp1
Ensembl Gene ENSMUSG00000046324
Gene Name endoplasmic reticulum metallopeptidase 1
Synonyms D19Wsu12e, D19Ertd410e, b2b2633Clo
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4366001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 29587276-29625815 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29606189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 375 (H375R)
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: H375R

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124881
Gene: ENSMUSG00000046324
AA Change: H375R

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 possibly damaging
Transcript: ENSMUST00000162534
AA Change: H188R

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124992
Gene: ENSMUSG00000046324
AA Change: H188R

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: 93.0%
  • 3x: 90.7%
  • 10x: 85.5%
  • 20x: 73.8%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C A 11: 119,901,786 (GRCm39) S870I possibly damaging Het
Abca13 T C 11: 9,244,962 (GRCm39) V2275A probably benign Het
Abcb5 T C 12: 118,899,833 (GRCm39) K278R probably damaging Het
Adcy2 TA TAA 13: 68,858,109 (GRCm39) probably benign Het
Add3 C T 19: 53,205,298 (GRCm39) P16L unknown Het
Akap9 T A 5: 4,096,221 (GRCm39) D2365E probably benign Het
Asah1 A G 8: 41,796,783 (GRCm39) S300P possibly damaging Het
Astn1 A T 1: 158,424,779 (GRCm39) H655L probably benign Het
Astn1 A T 1: 158,424,781 (GRCm39) I656F probably benign Het
Bmpr1b T A 3: 141,586,224 (GRCm39) T13S probably benign Het
Camsap2 A G 1: 136,208,055 (GRCm39) F478L Het
Card10 G A 15: 78,671,631 (GRCm39) S611L probably benign Het
Cep68 T C 11: 20,190,007 (GRCm39) N335S probably benign Het
Chac1 T C 2: 119,181,986 (GRCm39) W35R probably damaging Het
Cntn6 T C 6: 104,809,498 (GRCm39) V511A probably benign Het
Cpne9 G T 6: 113,271,707 (GRCm39) G356W probably damaging Het
Dnah10 C A 5: 124,852,588 (GRCm39) T1939K possibly damaging Het
Dock10 T C 1: 80,573,438 (GRCm39) N239D probably benign Het
Dock5 T C 14: 68,062,123 (GRCm39) K415R possibly damaging Het
Dtd2 C A 12: 52,046,582 (GRCm39) D86Y probably damaging Het
Efcab9 A G 11: 32,473,608 (GRCm39) F127S probably damaging Het
Frem2 A T 3: 53,560,622 (GRCm39) M1295K probably damaging Het
Gbp7 T G 3: 142,248,712 (GRCm39) I325R probably benign Het
Gpr179 T C 11: 97,227,677 (GRCm39) K1493E probably benign Het
Gucy2g T A 19: 55,226,214 (GRCm39) E234V probably null Het
Itpr1 T A 6: 108,470,718 (GRCm39) C2215* probably null Het
Ltn1 G A 16: 87,177,728 (GRCm39) R1634* probably null Het
Lynx1 A T 15: 74,623,258 (GRCm39) M58K possibly damaging Het
Macc1 T C 12: 119,410,684 (GRCm39) V484A probably benign Het
Map3k9 C T 12: 81,819,535 (GRCm39) V240M possibly damaging Het
Mars1 A G 10: 127,135,267 (GRCm39) M608T possibly damaging Het
Mc2r T C 18: 68,540,826 (GRCm39) M156V probably benign Het
Mchr1 G T 15: 81,121,417 (GRCm39) V56L probably benign Het
Mlxip C T 5: 123,533,173 (GRCm39) P61S probably benign Het
Mtarc1 A G 1: 184,539,383 (GRCm39) F96S probably benign Het
Muc4 A G 16: 32,575,542 (GRCm39) T1557A unknown Het
Myt1 T C 2: 181,467,731 (GRCm39) V1135A probably damaging Het
Ndufaf6 A T 4: 11,073,215 (GRCm39) S76T probably benign Het
Ntrk2 A G 13: 59,208,149 (GRCm39) Y665C probably damaging Het
Oaz3 T G 3: 94,340,901 (GRCm39) R215S unknown Het
Or10x1 T C 1: 174,196,656 (GRCm39) Y58H probably damaging Het
Or5m10b T C 2: 85,699,226 (GRCm39) C97R probably damaging Het
Or5m8 A T 2: 85,822,385 (GRCm39) N75Y probably damaging Het
Or5w1b C T 2: 87,475,534 (GRCm39) W311* probably null Het
Perm1 G T 4: 156,303,192 (GRCm39) V579L probably benign Het
Phyhipl A G 10: 70,404,788 (GRCm39) V140A probably benign Het
Pip5k1c T A 10: 81,144,842 (GRCm39) S228T probably damaging Het
Plekhn1 T G 4: 156,309,268 (GRCm39) T213P probably damaging Het
Pomt2 A T 12: 87,163,303 (GRCm39) probably null Het
Ptcd1 A G 5: 145,088,145 (GRCm39) V622A probably benign Het
Ptn T A 6: 36,718,284 (GRCm39) H127L probably benign Het
Ptprk A T 10: 28,462,015 (GRCm39) M1193L probably benign Het
Ptpru G A 4: 131,527,023 (GRCm39) P650S probably benign Het
Pum2 T A 12: 8,783,390 (GRCm39) L613Q probably damaging Het
Rapgef6 A G 11: 54,582,446 (GRCm39) T1458A probably damaging Het
Sap130 C T 18: 31,810,462 (GRCm39) A470V probably benign Het
Sertad2 C A 11: 20,598,116 (GRCm39) P104Q probably benign Het
Sfrp4 A T 13: 19,814,414 (GRCm39) M324L unknown Het
Sh3bp4 A G 1: 89,073,156 (GRCm39) N668S probably benign Het
Snx30 C A 4: 59,894,653 (GRCm39) D410E probably benign Het
Spata31 C A 13: 65,069,319 (GRCm39) S489* probably null Het
Taok3 T A 5: 117,366,050 (GRCm39) M367K probably benign Het
Tfap2a T C 13: 40,874,850 (GRCm39) N254D possibly damaging Het
Tgtp1 T G 11: 48,877,867 (GRCm39) L279F possibly damaging Het
Tmpo A G 10: 90,999,172 (GRCm39) F205S probably damaging Het
Tmprss5 A T 9: 49,023,517 (GRCm39) I218L probably benign Het
Tti2 A G 8: 31,641,224 (GRCm39) E116G probably benign Het
Vmn2r59 A T 7: 41,695,205 (GRCm39) N402K possibly damaging 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
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
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'- ACGACTCACTCCTGTGCTTG -3'
(R):5'- CTCATCTGGGAGATCTGGAAGAAAG -3'

Sequencing Primer
(F):5'- CTTGGGCCGCAGAAGTTTC -3'
(R):5'- TCTGGAAGAAAGGGCAAAGC -3'
Posted On 2019-06-07