Incidental Mutation 'R7831:Ermp1'
ID 605669
Institutional Source Beutler Lab
Gene Symbol Ermp1
Ensembl Gene ENSMUSG00000046324
Gene Name endoplasmic reticulum metallopeptidase 1
Synonyms D19Wsu12e, D19Ertd410e, b2b2633Clo
MMRRC Submission 045885-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7831 (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 C at 29595367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 634 (T634A)
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: T634A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124881
Gene: ENSMUSG00000046324
AA Change: T634A

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: Y383C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124992
Gene: ENSMUSG00000046324
AA Change: Y383C

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (87/87)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,247,404 (GRCm39) V2384I possibly damaging Het
Acsl1 A G 8: 46,972,043 (GRCm39) D297G probably benign Het
Ap2a1 C A 7: 44,550,436 (GRCm39) R944L probably damaging Het
Apbb1ip A G 2: 22,756,933 (GRCm39) Y398C probably damaging Het
Atp8a2 A T 14: 60,011,202 (GRCm39) V968D probably damaging Het
Becn1 T C 11: 101,181,279 (GRCm39) T341A probably benign Het
Card11 G T 5: 140,859,167 (GRCm39) S1126R possibly damaging Het
Ccdc51 T C 9: 108,921,058 (GRCm39) L315S probably damaging Het
Cdk12 T C 11: 98,140,653 (GRCm39) L1298P unknown Het
Cep170b A T 12: 112,711,234 (GRCm39) D1538V probably benign Het
Cfap52 A T 11: 67,826,782 (GRCm39) F348I possibly damaging Het
Clip1 A T 5: 123,751,342 (GRCm39) M813K Het
Col19a1 G A 1: 24,565,563 (GRCm39) T256I unknown Het
Col6a3 A T 1: 90,724,268 (GRCm39) C2027* probably null Het
Crisp4 A T 1: 18,199,013 (GRCm39) N140K probably benign Het
Crocc2 G T 1: 93,143,195 (GRCm39) A1266S probably benign Het
Cyfip2 G A 11: 46,087,273 (GRCm39) R1206C probably damaging Het
Cyp24a1 T A 2: 170,327,860 (GRCm39) M461L probably damaging Het
Cyp2a5 C T 7: 26,534,940 (GRCm39) T51I possibly damaging Het
Cyp2b19 C T 7: 26,466,565 (GRCm39) H398Y possibly damaging Het
Cyp4a29 G A 4: 115,107,367 (GRCm39) V234I probably benign Het
Dicer1 T G 12: 104,675,059 (GRCm39) K734N probably damaging Het
Dnai1 T C 4: 41,614,695 (GRCm39) probably null Het
Entpd3 G A 9: 120,373,025 (GRCm39) G14D probably damaging Het
Entrep3 G A 3: 89,091,520 (GRCm39) probably null Het
Evc C T 5: 37,476,427 (GRCm39) G374D probably damaging Het
Fcgbp C A 7: 27,806,404 (GRCm39) T2124K probably damaging Het
Fgf8 G A 19: 45,730,876 (GRCm39) P50S probably benign Het
Fmnl1 C T 11: 103,088,999 (GRCm39) R1074W unknown Het
Galnt18 C T 7: 111,155,665 (GRCm39) V223M possibly damaging Het
Galnt2 A G 8: 125,058,817 (GRCm39) N295S probably benign Het
Grip1 T G 10: 119,854,011 (GRCm39) V600G probably damaging Het
Insm2 T A 12: 55,647,323 (GRCm39) C356S probably damaging Het
Itpr2 T A 6: 146,193,082 (GRCm39) I1672F probably benign Het
Kdm1b T G 13: 47,204,098 (GRCm39) N76K probably benign Het
Khnyn T A 14: 56,125,303 (GRCm39) probably null Het
Kidins220 C T 12: 25,111,230 (GRCm39) A1167V possibly damaging Het
Krt40 T C 11: 99,432,087 (GRCm39) D208G probably benign Het
Lars1 T A 18: 42,350,627 (GRCm39) D894V probably benign Het
Lmx1a A T 1: 167,668,521 (GRCm39) N266I probably benign Het
Mrgprb5 T A 7: 47,817,997 (GRCm39) K246M probably benign Het
Mrpl2 G A 17: 46,959,598 (GRCm39) G176R possibly damaging Het
Muc21 T A 17: 35,929,651 (GRCm39) T1512S unknown Het
Nell1 T A 7: 49,632,548 (GRCm39) F60L possibly damaging Het
Nnt G A 13: 119,506,630 (GRCm39) A453V possibly damaging Het
Opa1 A G 16: 29,467,755 (GRCm39) K940R probably benign Het
Opn5 A C 17: 42,891,510 (GRCm39) I309S probably null Het
Or1af1 C T 2: 37,109,723 (GRCm39) T74I probably damaging Het
Or1r1 A C 11: 73,875,257 (GRCm39) M59R probably damaging Het
Or2ag15 T A 7: 106,340,620 (GRCm39) I174F probably damaging Het
P3h3 T G 6: 124,832,118 (GRCm39) E256A possibly damaging Het
Pald1 G T 10: 61,191,593 (GRCm39) T65K probably damaging Het
Pcnx3 T C 19: 5,735,989 (GRCm39) Y279C probably damaging Het
Pik3c2b G A 1: 132,998,980 (GRCm39) S367N possibly damaging Het
Pik3cb T C 9: 98,970,666 (GRCm39) T342A probably benign Het
Pkd1l3 A T 8: 110,357,990 (GRCm39) E837D possibly damaging Het
Ppp2r2b T A 18: 42,834,597 (GRCm39) Y191F probably benign Het
Ppp4r4 G A 12: 103,557,080 (GRCm39) E439K possibly damaging Het
Ptprk A G 10: 28,444,404 (GRCm39) I946V possibly damaging Het
Ror1 A G 4: 100,298,295 (GRCm39) N556S probably benign Het
Ryr3 C T 2: 112,757,183 (GRCm39) A391T possibly damaging Het
Selp G A 1: 163,972,584 (GRCm39) probably null Het
Setx T C 2: 29,047,120 (GRCm39) L1866S probably damaging Het
Setx T A 2: 29,069,866 (GRCm39) V2557E possibly damaging Het
Slc66a3 T A 12: 17,047,632 (GRCm39) probably null Het
Slit2 A G 5: 48,402,025 (GRCm39) T805A probably benign Het
Sorbs3 T G 14: 70,440,481 (GRCm39) N89T possibly damaging Het
Sorl1 C A 9: 42,001,257 (GRCm39) V248L probably benign Het
Srebf2 T A 15: 82,066,288 (GRCm39) V612E probably damaging Het
Sv2c T A 13: 96,113,200 (GRCm39) Y583F probably damaging Het
Tada1 G T 1: 166,217,442 (GRCm39) R193I probably damaging Het
Tnrc6b C G 15: 80,764,580 (GRCm39) A694G possibly damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Ttn C T 2: 76,711,425 (GRCm39) G8372D unknown Het
Ube2g2 A G 10: 77,470,576 (GRCm39) T68A Het
Ubl7 T G 9: 57,821,918 (GRCm39) V89G possibly damaging Het
Ush2a T A 1: 188,492,038 (GRCm39) I3109N probably damaging Het
Utp20 T A 10: 88,598,632 (GRCm39) K115* probably null Het
Vmn2r26 T A 6: 124,016,758 (GRCm39) Y407* probably null Het
Yod1 G T 1: 130,646,986 (GRCm39) V288F probably damaging Het
Zbed5 A C 5: 129,930,798 (GRCm39) N249T possibly damaging Het
Zbtb5 T C 4: 44,995,244 (GRCm39) T47A probably damaging Het
Zcchc14 T C 8: 122,331,984 (GRCm39) T460A not run Het
Zfp712 A C 13: 67,200,483 (GRCm39) probably null Het
Zfyve16 A T 13: 92,658,836 (GRCm39) H358Q 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
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
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'- TGGTGAAGCTCAAAACCCAC -3'
(R):5'- TCACTTAGGAGGGACACACC -3'

Sequencing Primer
(F):5'- GAATCTCACTGCTTCTGAAGAGC -3'
(R):5'- ACACCTGAGGAATTGCTGC -3'
Posted On 2019-12-20