Incidental Mutation 'IGL02573:Emp1'
ID 299082
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Emp1
Ensembl Gene ENSMUSG00000030208
Gene Name epithelial membrane protein 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02573
Quality Score
Status
Chromosome 6
Chromosomal Location 135339548-135360171 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135356945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 42 (K42R)
Ref Sequence ENSEMBL: ENSMUSP00000145069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032330] [ENSMUST00000111907] [ENSMUST00000154270] [ENSMUST00000205156]
AlphaFold P47801
Predicted Effect probably benign
Transcript: ENSMUST00000032330
AA Change: K42R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000032330
Gene: ENSMUSG00000030208
AA Change: K42R

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 154 1.6e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111907
AA Change: K42R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000107538
Gene: ENSMUSG00000030208
AA Change: K42R

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 154 1.6e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154270
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204299
Predicted Effect probably benign
Transcript: ENSMUST00000205156
AA Change: K42R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000145069
Gene: ENSMUSG00000030208
AA Change: K42R

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 154 1.6e-56 PFAM
Coding Region Coverage
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl3 T A 4: 98,926,171 (GRCm39) W434R probably damaging Het
Atp7b T C 8: 22,512,486 (GRCm39) Q344R probably benign Het
B4galt5 C T 2: 167,146,982 (GRCm39) R284Q probably benign Het
Ccdc80 T G 16: 44,915,952 (GRCm39) V236G probably damaging Het
Chd8 T C 14: 52,457,191 (GRCm39) I926V possibly damaging Het
Dgkz A C 2: 91,764,542 (GRCm39) S1030R probably damaging Het
Disp3 T A 4: 148,355,906 (GRCm39) D318V probably damaging Het
Dnaaf10 T C 11: 17,162,136 (GRCm39) L58P possibly damaging Het
Ehd1 T C 19: 6,344,330 (GRCm39) S197P probably damaging Het
Garin4 G A 1: 190,896,067 (GRCm39) T192I probably damaging Het
Gm4922 T A 10: 18,659,423 (GRCm39) D433V probably benign Het
Gsdma T C 11: 98,561,577 (GRCm39) probably benign Het
Hspbp1 G T 7: 4,680,852 (GRCm39) A208E probably damaging Het
Il5ra A T 6: 106,693,712 (GRCm39) V342E possibly damaging Het
Kif13b T C 14: 65,040,880 (GRCm39) F1660S probably damaging Het
Lvrn A G 18: 47,010,016 (GRCm39) E388G probably damaging Het
Mettl17 G A 14: 52,125,504 (GRCm39) probably null Het
Mgat5b T C 11: 116,868,540 (GRCm39) Y488H probably benign Het
Mtr A T 13: 12,214,013 (GRCm39) D886E possibly damaging Het
Naip6 A T 13: 100,435,979 (GRCm39) L848* probably null Het
Nav3 A G 10: 109,702,835 (GRCm39) S233P probably benign Het
Nme9 A T 9: 99,352,908 (GRCm39) D286V probably benign Het
Nod1 C A 6: 54,920,930 (GRCm39) A463S probably benign Het
Nthl1 A G 17: 24,852,949 (GRCm39) K51R probably benign Het
Or1n2 A G 2: 36,797,566 (GRCm39) I203V probably damaging Het
Or6k14 T A 1: 173,927,696 (GRCm39) V224D possibly damaging Het
Pcnx2 G A 8: 126,582,012 (GRCm39) A908V probably benign Het
Pdcd6 A G 13: 74,452,098 (GRCm39) Y181H probably damaging Het
Pde10a A C 17: 9,180,722 (GRCm39) I719L probably benign Het
Pikfyve T A 1: 65,270,014 (GRCm39) probably null Het
Plekha5 G T 6: 140,527,742 (GRCm39) A396S probably damaging Het
Ppfia2 A G 10: 106,664,789 (GRCm39) T342A probably damaging Het
Rbck1 A G 2: 152,164,087 (GRCm39) I339T possibly damaging Het
Rbms2 A T 10: 127,979,309 (GRCm39) I140N probably damaging Het
Scn1b A T 7: 30,822,546 (GRCm39) L78Q possibly damaging Het
Slc12a6 T C 2: 112,188,986 (GRCm39) probably null Het
Slc25a30 A T 14: 76,007,108 (GRCm39) probably benign Het
Slc30a7 C T 3: 115,783,796 (GRCm39) probably benign Het
Slc5a10 C A 11: 61,563,898 (GRCm39) R546L possibly damaging Het
Stxbp4 T C 11: 90,431,095 (GRCm39) D405G probably damaging Het
Tm4sf19 A C 16: 32,226,678 (GRCm39) T156P possibly damaging Het
Tmem37 A T 1: 119,995,719 (GRCm39) D119E probably damaging Het
Tor1aip1 T A 1: 155,889,117 (GRCm39) N113I probably damaging Het
Ubac2 T A 14: 122,144,802 (GRCm39) Y87N possibly damaging Het
Usp29 A T 7: 6,965,617 (GRCm39) probably null Het
Zfp276 A G 8: 123,991,736 (GRCm39) E428G 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
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
R9231:Emp1 UTSW 6 135,354,276 (GRCm39) missense probably damaging 1.00
R9727:Emp1 UTSW 6 135,358,016 (GRCm39) missense probably benign 0.10
Posted On 2015-04-16