Incidental Mutation 'R9231:Emp1'
ID 700239
Institutional Source Beutler Lab
Gene Symbol Emp1
Ensembl Gene ENSMUSG00000030208
Gene Name epithelial membrane protein 1
Synonyms
MMRRC Submission 068985-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9231 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 135339548-135360171 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 135354276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 23 (T23I)
Ref Sequence ENSEMBL: ENSMUSP00000032330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032330] [ENSMUST00000111907] [ENSMUST00000154270] [ENSMUST00000205156]
AlphaFold P47801
Predicted Effect probably damaging
Transcript: ENSMUST00000032330
AA Change: T23I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032330
Gene: ENSMUSG00000030208
AA Change: T23I

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 154 1.6e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111907
AA Change: T23I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107538
Gene: ENSMUSG00000030208
AA Change: T23I

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 154 1.6e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000154270
AA Change: T23I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000205156
AA Change: T23I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145069
Gene: ENSMUSG00000030208
AA Change: T23I

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 154 1.6e-56 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency 98% (60/61)
MGI Phenotype PHENOTYPE: Homozygous mice do not exhibit an overt mutant phenotype in any parameter tested. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,349,153 (GRCm39) Q1073R probably benign Het
Akirin2 A G 4: 34,551,072 (GRCm39) T10A possibly damaging Het
Ankrd13a T A 5: 114,942,295 (GRCm39) I526N probably damaging Het
Ankrd28 A G 14: 31,429,234 (GRCm39) V876A possibly damaging Het
Aqp8 T A 7: 123,061,813 (GRCm39) M11K probably benign Het
Catsper3 T C 13: 55,946,705 (GRCm39) I134T possibly damaging Het
Cdk9 G T 2: 32,598,006 (GRCm39) T350N probably benign Het
Ckmt2 G T 13: 92,011,311 (GRCm39) H100N probably damaging Het
Cnnm4 A T 1: 36,511,258 (GRCm39) D162V probably benign Het
Cnppd1 T C 1: 75,116,261 (GRCm39) H108R possibly damaging Het
Col17a1 G A 19: 47,667,861 (GRCm39) R139* probably null Het
Cyp2c65 C T 19: 39,060,661 (GRCm39) P174S possibly damaging Het
Dync2li1 A G 17: 84,935,819 (GRCm39) S39G probably null Het
Ecpas A G 4: 58,875,533 (GRCm39) Y144H probably damaging Het
Eif2ak4 A G 2: 118,271,662 (GRCm39) D882G probably benign Het
Epha8 T A 4: 136,673,226 (GRCm39) D186V probably damaging Het
Fam169a T G 13: 97,254,967 (GRCm39) D394E probably benign Het
Fam20b T C 1: 156,509,084 (GRCm39) D376G probably benign Het
Fgfbp3 C T 19: 36,896,193 (GRCm39) A142T possibly damaging Het
Flg2 C T 3: 93,109,508 (GRCm39) S512L unknown Het
Fras1 T A 5: 96,692,904 (GRCm39) C188S probably damaging Het
Galr2 T C 11: 116,174,335 (GRCm39) C322R probably benign Het
Gbe1 T A 16: 70,284,989 (GRCm39) M437K possibly damaging Het
Glt1d1 T A 5: 127,754,341 (GRCm39) L181Q probably damaging Het
Gpr180 G A 14: 118,395,455 (GRCm39) V296I probably damaging Het
Gucy1a1 C T 3: 82,013,308 (GRCm39) E445K probably damaging Het
H2-T24 T C 17: 36,331,363 (GRCm39) D14G possibly damaging Het
Igsf10 G A 3: 59,243,843 (GRCm39) R164W probably damaging Het
Ing5 T G 1: 93,739,505 (GRCm39) D37E probably benign Het
Kcnt1 A G 2: 25,801,074 (GRCm39) T1051A probably benign Het
Kif1b A T 4: 149,275,652 (GRCm39) S1420T possibly damaging Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Kmt2a A G 9: 44,759,912 (GRCm39) F646L probably damaging Het
Lrp1 T C 10: 127,382,268 (GRCm39) D3731G probably benign Het
Mif T A 10: 75,695,370 (GRCm39) I97F probably damaging Het
Mpp4 A T 1: 59,163,833 (GRCm39) V507D probably damaging Het
Mrpl1 C A 5: 96,361,719 (GRCm39) N35K probably benign Het
Naf1 CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA 8: 67,313,146 (GRCm39) probably benign Het
Nat8f6 A G 6: 85,785,630 (GRCm39) V173A probably damaging Het
Ninl C T 2: 150,792,129 (GRCm39) R798Q probably benign Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Or10a49 T C 7: 108,467,840 (GRCm39) I174V possibly damaging Het
Or1af1 A T 2: 37,109,989 (GRCm39) M163L possibly damaging Het
Paqr8 A G 1: 21,005,875 (GRCm39) H343R probably benign Het
Parp14 A G 16: 35,661,583 (GRCm39) V1455A probably damaging Het
Parp3 A T 9: 106,350,891 (GRCm39) S334T probably benign Het
Pcbp2 T G 15: 102,394,477 (GRCm39) probably null Het
Perm1 A T 4: 156,302,234 (GRCm39) E259D probably damaging Het
Plce1 A T 19: 38,705,040 (GRCm39) N815I probably benign Het
Plxnb1 A T 9: 108,934,286 (GRCm39) D838V possibly damaging Het
Prdm12 A G 2: 31,530,265 (GRCm39) D52G probably benign Het
Rac2 T C 15: 78,450,223 (GRCm39) N39S probably damaging Het
Smchd1 A T 17: 71,672,084 (GRCm39) C1657S probably benign Het
Sugct T A 13: 17,627,071 (GRCm39) T261S probably damaging Het
Tbc1d10a T C 11: 4,164,885 (GRCm39) L446P probably damaging Het
Tcp1 T A 17: 13,136,761 (GRCm39) D47E probably damaging Het
Tenm3 T A 8: 48,689,231 (GRCm39) T2119S probably damaging Het
Tent5a T G 9: 85,208,388 (GRCm39) D145A possibly damaging Het
Tmem132b T C 5: 125,860,531 (GRCm39) M592T probably damaging Het
Trim28 G A 7: 12,763,490 (GRCm39) A544T probably benign Het
Vinac1 A T 2: 128,879,340 (GRCm39) I862N unknown Het
Washc2 C A 6: 116,235,899 (GRCm39) D1123E probably benign Het
Wee2 A G 6: 40,440,089 (GRCm39) I412M probably damaging Het
Other mutations in Emp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02064:Emp1 APN 6 135,354,210 (GRCm39) start codon destroyed probably null 1.00
IGL02573:Emp1 APN 6 135,356,945 (GRCm39) missense probably benign 0.01
R1171:Emp1 UTSW 6 135,358,077 (GRCm39) missense probably damaging 1.00
R1916:Emp1 UTSW 6 135,357,128 (GRCm39) missense probably damaging 1.00
R2316:Emp1 UTSW 6 135,357,123 (GRCm39) missense probably damaging 1.00
R5103:Emp1 UTSW 6 135,358,073 (GRCm39) missense probably benign 0.01
R7287:Emp1 UTSW 6 135,357,167 (GRCm39) missense probably benign 0.29
R9727:Emp1 UTSW 6 135,358,016 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- AGAAGGTGGGATGCGTCTTAC -3'
(R):5'- AATCACTTGTGGACTCTCGC -3'

Sequencing Primer
(F):5'- GCGTCTTACTGACTGTGACAATAACC -3'
(R):5'- TCTTCCCGATCTATGAGTATGTG -3'
Posted On 2022-02-07