Incidental Mutation 'R0925:Eme1'
ID 83159
Institutional Source Beutler Lab
Gene Symbol Eme1
Ensembl Gene ENSMUSG00000039055
Gene Name essential meiotic structure-specific endonuclease 1
Synonyms
MMRRC Submission 039072-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0925 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 94535798-94544611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94541558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 88 (E88G)
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

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
Pfam:Ribosomal_L27 31 114 2e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000039949
AA Change: E88G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000036361
Gene: ENSMUSG00000039055
AA Change: E88G

DomainStartEndE-ValueType
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: ENSMUST00000132813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129498
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.7%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T C 8: 44,079,340 (GRCm39) I295V probably benign Het
Adam5 T C 8: 25,302,441 (GRCm39) Q101R probably benign Het
C2cd4c T C 10: 79,448,584 (GRCm39) N188D probably benign Het
Cdc27 A G 11: 104,416,875 (GRCm39) probably null Het
Cdh11 T A 8: 103,361,356 (GRCm39) I661L probably damaging Het
Cimip1 T A 2: 173,367,867 (GRCm39) S47T probably benign Het
Csmd1 A G 8: 16,760,634 (GRCm39) I167T probably benign Het
Dennd3 T G 15: 73,405,284 (GRCm39) F346V probably damaging Het
Dis3l A T 9: 64,248,412 (GRCm39) M1K probably null Het
Dnajb6 A T 5: 29,957,398 (GRCm39) K60I probably damaging Het
Dock10 T A 1: 80,514,657 (GRCm39) H1421L probably benign Het
Elmod3 A T 6: 72,545,921 (GRCm39) C274S probably damaging Het
Fam227a A T 15: 79,505,006 (GRCm39) M475K probably benign Het
Frem2 T C 3: 53,561,394 (GRCm39) I1038V probably benign Het
Gabpb1 T A 2: 126,494,185 (GRCm39) N147Y probably damaging Het
Gmnc A G 16: 26,779,173 (GRCm39) L278P probably benign Het
Gpr153 A G 4: 152,366,331 (GRCm39) T299A probably benign Het
H2-M11 T C 17: 36,858,353 (GRCm39) V49A probably benign Het
Hemgn T A 4: 46,397,049 (GRCm39) K62N probably damaging Het
Hormad2 G A 11: 4,377,297 (GRCm39) T47M probably damaging Het
Iqcf6 A G 9: 106,504,500 (GRCm39) T55A probably benign Het
Itgam T C 7: 127,711,410 (GRCm39) F705L probably benign Het
Klk1 T A 7: 43,878,240 (GRCm39) probably null Het
Myo1f A T 17: 33,797,107 (GRCm39) I123F probably damaging Het
Nup58 T C 14: 60,457,590 (GRCm39) T538A probably damaging Het
Or52j3 T A 7: 102,836,030 (GRCm39) L74* probably null Het
Or5p81 C T 7: 108,267,400 (GRCm39) T259I probably benign Het
Pdzd2 C T 15: 12,399,356 (GRCm39) R790H probably damaging Het
Pigv T C 4: 133,389,960 (GRCm39) K74R probably benign Het
Prmt8 T C 6: 127,674,776 (GRCm39) K284R probably benign Het
Rsl1d1 A T 16: 11,017,553 (GRCm39) Y138N probably damaging Het
Scara5 AC ACC 14: 66,000,167 (GRCm39) probably benign Het
Smc4 T A 3: 68,913,548 (GRCm39) probably benign Het
Spta1 G A 1: 174,001,992 (GRCm39) V41I possibly damaging Het
Tdrd7 C A 4: 46,025,758 (GRCm39) N859K probably damaging Het
Vps13d T G 4: 144,883,121 (GRCm39) D824A probably damaging Het
Wdfy2 A T 14: 63,167,675 (GRCm39) probably null Het
Other mutations in Eme1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00772:Eme1 APN 11 94,536,277 (GRCm39) missense probably damaging 1.00
IGL02402:Eme1 APN 11 94,541,733 (GRCm39) missense possibly damaging 0.65
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
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
Predicted Primers PCR Primer
(F):5'- AGGGGAACATCGGGAATCTTTGGC -3'
(R):5'- TCCACGGAGAGTGATTCTGAGGAC -3'

Sequencing Primer
(F):5'- CTTTTCCAGTCACATGGTGC -3'
(R):5'- TGAGGACCTGCCCACATTTG -3'
Posted On 2013-11-08