Incidental Mutation 'IGL02402:Eme1'
ID 291925
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eme1
Ensembl Gene ENSMUSG00000039055
Gene Name essential meiotic structure-specific endonuclease 1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02402
Quality Score
Chromosome 11
Chromosomal Location 94535798-94544611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 94541733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 30 (P30S)
Ref Sequence ENSEMBL: ENSMUSP00000036361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025278] [ENSMUST00000039949]
AlphaFold Q8BJW7
Predicted Effect probably benign
Transcript: ENSMUST00000025278
SMART Domains Protein: ENSMUSP00000025278
Gene: ENSMUSG00000024414

low complexity region 2 28 N/A INTRINSIC
Pfam:Ribosomal_L27 31 114 2e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000039949
AA Change: P30S

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000036361
Gene: ENSMUSG00000039055
AA Change: P30S

low complexity region 3 20 N/A INTRINSIC
low complexity region 68 79 N/A INTRINSIC
ERCC4 252 515 2.06e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127158
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128643
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132813
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3'-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,707,543 (GRCm39) F568L probably benign Het
AW112010 T A 19: 11,025,741 (GRCm39) noncoding transcript Het
Bbs4 A T 9: 59,237,729 (GRCm39) L205H probably benign Het
Bmal2 T C 6: 146,711,266 (GRCm39) V90A possibly damaging Het
C2cd2l T C 9: 44,227,878 (GRCm39) K121R probably benign Het
Car14 A G 3: 95,806,870 (GRCm39) V198A possibly damaging Het
Cd22 G T 7: 30,576,955 (GRCm39) H117Q possibly damaging Het
Celf1 T A 2: 90,829,068 (GRCm39) I45N probably damaging Het
Cluh T C 11: 74,547,997 (GRCm39) S103P probably damaging Het
Cyp39a1 T A 17: 44,002,613 (GRCm39) L276Q probably benign Het
Ddx27 T G 2: 166,857,245 (GRCm39) probably benign Het
Defb4 A T 8: 19,251,279 (GRCm39) I49F possibly damaging Het
Dock8 C A 19: 25,055,509 (GRCm39) T157K probably benign Het
Dpp6 T C 5: 27,839,541 (GRCm39) V352A probably damaging Het
Elmo2 C T 2: 165,139,312 (GRCm39) E412K probably damaging Het
Espnl G T 1: 91,272,535 (GRCm39) A632S probably benign Het
Gfod1 C A 13: 43,354,211 (GRCm39) A255S probably benign Het
Helz2 T A 2: 180,872,704 (GRCm39) K2432M probably damaging Het
Idua T C 5: 108,827,657 (GRCm39) L157P probably damaging Het
Ifi207 T A 1: 173,555,159 (GRCm39) D848V probably damaging Het
Jag1 C T 2: 136,927,858 (GRCm39) S851N possibly damaging Het
Kat6b T A 14: 21,681,415 (GRCm39) F571I probably damaging Het
Lrrc74b G A 16: 17,376,028 (GRCm39) probably benign Het
Mst1r A G 9: 107,794,026 (GRCm39) K1160E probably damaging Het
Muc19 C A 15: 91,778,192 (GRCm39) noncoding transcript Het
Nrg4 G A 9: 55,135,198 (GRCm39) probably benign Het
Ociad1 T C 5: 73,458,037 (GRCm39) I12T possibly damaging Het
Or1o3 A G 17: 37,574,111 (GRCm39) V148A possibly damaging Het
Pold3 A G 7: 99,749,618 (GRCm39) probably benign Het
Psmd5 T C 2: 34,747,784 (GRCm39) E291G probably damaging Het
Ptpn23 A G 9: 110,222,781 (GRCm39) V92A possibly damaging Het
Rab44 T A 17: 29,359,490 (GRCm39) H559Q probably benign Het
Rbm6 T C 9: 107,730,051 (GRCm39) D199G probably damaging Het
Rps18-ps3 C T 8: 107,989,754 (GRCm39) noncoding transcript Het
Septin10 T C 10: 59,006,758 (GRCm39) T93A probably benign Het
Slmap T C 14: 26,184,865 (GRCm39) T111A probably damaging Het
Spata25 C T 2: 164,670,377 (GRCm39) M1I probably null Het
Spink5 T A 18: 44,100,171 (GRCm39) C63S probably damaging Het
Sycp3 T C 10: 88,302,425 (GRCm39) probably benign Het
Tarbp1 A G 8: 127,177,567 (GRCm39) probably benign Het
Thbs2 A T 17: 14,891,716 (GRCm39) N940K probably benign Het
Tmem106b A T 6: 13,081,600 (GRCm39) Q169L possibly damaging Het
Trpm6 G T 19: 18,764,120 (GRCm39) C242F probably benign Het
Ush2a T A 1: 187,999,305 (GRCm39) M205K probably benign Het
Utp18 A C 11: 93,774,617 (GRCm39) probably benign Het
Other mutations in Eme1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00772:Eme1 APN 11 94,536,277 (GRCm39) missense probably damaging 1.00
R0220:Eme1 UTSW 11 94,541,084 (GRCm39) missense probably null 1.00
R0594:Eme1 UTSW 11 94,541,256 (GRCm39) missense possibly damaging 0.63
R0608:Eme1 UTSW 11 94,540,908 (GRCm39) missense probably damaging 1.00
R0842:Eme1 UTSW 11 94,541,700 (GRCm39) missense probably benign 0.24
R0925:Eme1 UTSW 11 94,541,558 (GRCm39) missense probably damaging 0.99
R1146:Eme1 UTSW 11 94,536,277 (GRCm39) missense probably damaging 1.00
R1146:Eme1 UTSW 11 94,536,277 (GRCm39) missense probably damaging 1.00
R1161:Eme1 UTSW 11 94,536,368 (GRCm39) missense probably damaging 1.00
R1310:Eme1 UTSW 11 94,536,368 (GRCm39) missense probably damaging 1.00
R1837:Eme1 UTSW 11 94,536,787 (GRCm39) missense probably benign 0.14
R2138:Eme1 UTSW 11 94,539,018 (GRCm39) missense probably damaging 1.00
R2420:Eme1 UTSW 11 94,536,640 (GRCm39) critical splice donor site probably null
R2427:Eme1 UTSW 11 94,541,801 (GRCm39) unclassified probably benign
R3807:Eme1 UTSW 11 94,541,418 (GRCm39) missense probably damaging 1.00
R4230:Eme1 UTSW 11 94,538,818 (GRCm39) missense possibly damaging 0.69
R6889:Eme1 UTSW 11 94,541,303 (GRCm39) missense probably benign 0.00
R7752:Eme1 UTSW 11 94,541,645 (GRCm39) missense probably damaging 1.00
R7759:Eme1 UTSW 11 94,536,666 (GRCm39) nonsense probably null
R7901:Eme1 UTSW 11 94,541,645 (GRCm39) missense probably damaging 1.00
R8785:Eme1 UTSW 11 94,541,447 (GRCm39) missense probably benign 0.18
R9083:Eme1 UTSW 11 94,540,958 (GRCm39) missense probably damaging 1.00
R9148:Eme1 UTSW 11 94,538,855 (GRCm39) missense possibly damaging 0.73
R9297:Eme1 UTSW 11 94,541,614 (GRCm39) missense probably benign 0.43
R9436:Eme1 UTSW 11 94,538,507 (GRCm39) nonsense probably null
R9563:Eme1 UTSW 11 94,541,339 (GRCm39) missense probably benign 0.19
X0021:Eme1 UTSW 11 94,541,344 (GRCm39) missense possibly damaging 0.56
Z1176:Eme1 UTSW 11 94,541,522 (GRCm39) missense possibly damaging 0.46
Posted On 2015-04-16