Incidental Mutation 'R2138:Eme1'
ID 235985
Institutional Source Beutler Lab
Gene Symbol Eme1
Ensembl Gene ENSMUSG00000039055
Gene Name essential meiotic structure-specific endonuclease 1
Synonyms
MMRRC Submission 040141-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2138 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 94535798-94544611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94539018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 314 (V314E)
Ref Sequence ENSEMBL: ENSMUSP00000036361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021239] [ENSMUST00000039949]
AlphaFold Q8BJW7
Predicted Effect probably benign
Transcript: ENSMUST00000021239
SMART Domains Protein: ENSMUSP00000021239
Gene: ENSMUSG00000020869

DomainStartEndE-ValueType
LRR 38 60 6.22e0 SMART
LRR 61 83 1.33e-1 SMART
LRR 84 106 3.75e0 SMART
LRR 107 131 1.09e2 SMART
coiled coil region 148 216 N/A INTRINSIC
transmembrane domain 244 266 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000039949
AA Change: V314E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000036361
Gene: ENSMUSG00000039055
AA Change: V314E

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: ENSMUST00000127158
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128643
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,323,122 (GRCm39) V6A probably benign Het
Abcc6 A G 7: 45,630,475 (GRCm39) F1262L probably damaging Het
Acot13 A T 13: 25,002,188 (GRCm39) probably null Het
Adgrv1 T C 13: 81,593,439 (GRCm39) I4183V probably benign Het
Aff4 T G 11: 53,263,339 (GRCm39) S120A possibly damaging Het
Afp A G 5: 90,647,506 (GRCm39) E250G probably damaging Het
Ankrd34b A T 13: 92,575,914 (GRCm39) D382V probably damaging Het
Arhgef19 A T 4: 140,978,111 (GRCm39) I577F probably damaging Het
Arl6 A G 16: 59,442,830 (GRCm39) probably benign Het
Atp2b2 A T 6: 113,773,268 (GRCm39) M333K probably benign Het
Atp8b3 C A 10: 80,362,939 (GRCm39) A635S possibly damaging Het
Baiap2 A G 11: 119,847,928 (GRCm39) T19A possibly damaging Het
Bcar3 A G 3: 122,306,645 (GRCm39) D206G probably damaging Het
Ccdc162 A T 10: 41,457,293 (GRCm39) M85K probably benign Het
Clec4a4 A G 6: 123,000,937 (GRCm39) N217D probably damaging Het
Csmd1 T C 8: 15,979,088 (GRCm39) Y2832C probably damaging Het
Cubn A G 2: 13,449,189 (GRCm39) I962T probably damaging Het
Dennd4a A G 9: 64,796,619 (GRCm39) Y852C probably damaging Het
Dhcr24 G T 4: 106,429,499 (GRCm39) E191* probably null Het
Dusp12 G A 1: 170,708,166 (GRCm39) Q114* probably null Het
Elfn2 G T 15: 78,558,238 (GRCm39) T103K probably benign Het
Epb41l3 A G 17: 69,514,875 (GRCm39) E4G probably damaging Het
Exoc6b A T 6: 84,966,464 (GRCm39) L170Q probably damaging Het
Fbln5 C T 12: 101,728,179 (GRCm39) M261I probably benign Het
Fgf22 T C 10: 79,592,435 (GRCm39) V64A probably damaging Het
Gak C T 5: 108,754,743 (GRCm39) probably null Het
Gatad2b T A 3: 90,259,420 (GRCm39) S401R probably damaging Het
Gen1 A T 12: 11,291,622 (GRCm39) S722R probably damaging Het
Gm10754 A T 10: 97,518,132 (GRCm39) probably benign Het
Grid2 G A 6: 64,322,782 (GRCm39) R594Q probably damaging Het
Grm7 C A 6: 110,623,098 (GRCm39) N90K probably damaging Het
Herc1 G A 9: 66,377,589 (GRCm39) V3452M possibly damaging Het
Il22ra2 T A 10: 19,508,618 (GRCm39) F215L probably benign Het
Kank1 G A 19: 25,389,117 (GRCm39) G930D probably benign Het
Klra3 A T 6: 130,310,121 (GRCm39) V133D probably benign Het
Lims2 A G 18: 32,088,460 (GRCm39) E220G possibly damaging Het
Mbd3l2 A T 9: 18,356,254 (GRCm39) D193V probably damaging Het
Mbl1 T A 14: 40,875,648 (GRCm39) I34K possibly damaging Het
Mgam C T 6: 40,733,384 (GRCm39) P839S probably damaging Het
Mmp9 G T 2: 164,794,387 (GRCm39) E460* probably null Het
Mov10 T C 3: 104,711,558 (GRCm39) H316R probably benign Het
Ms4a18 A T 19: 10,974,695 (GRCm39) V332D possibly damaging Het
Myo15b T C 11: 115,774,633 (GRCm39) S2082P probably benign Het
Myrfl G A 10: 116,631,443 (GRCm39) T706I probably benign Het
Nampt C A 12: 32,888,421 (GRCm39) H191N possibly damaging Het
Niban1 G A 1: 151,572,002 (GRCm39) V316M probably damaging Het
Nphp3 A G 9: 103,903,102 (GRCm39) E693G possibly damaging Het
Obscn A T 11: 58,894,491 (GRCm39) Y1191* probably null Het
Or10z1 A T 1: 174,078,302 (GRCm39) probably null Het
Or1r1 A T 11: 73,875,129 (GRCm39) Y102N probably damaging Het
Or7a40 A G 16: 16,491,069 (GRCm39) Y259H probably damaging Het
Osbpl10 A G 9: 115,061,202 (GRCm39) N760S probably benign Het
Otof A G 5: 30,619,114 (GRCm39) V10A probably benign Het
Pkhd1l1 A C 15: 44,364,853 (GRCm39) E664A probably damaging Het
Pnp2 T C 14: 51,201,161 (GRCm39) S178P probably damaging Het
Pvr G A 7: 19,650,927 (GRCm39) T199I probably damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rnaseh2b T C 14: 62,598,794 (GRCm39) V173A probably benign Het
Septin12 C T 16: 4,810,070 (GRCm39) R155H probably damaging Het
Slco6d1 G T 1: 98,371,385 (GRCm39) R290L probably benign Het
Snx32 A G 19: 5,546,157 (GRCm39) V335A probably damaging Het
Son T C 16: 91,456,260 (GRCm39) V1669A possibly damaging Het
Speer1f A T 5: 11,469,052 (GRCm39) R68* probably null Het
Tbata C T 10: 61,015,063 (GRCm39) T116I probably benign Het
Tdrd1 T A 19: 56,831,021 (GRCm39) S279T probably benign Het
Thsd7a A T 6: 12,471,072 (GRCm39) Y515* probably null Het
Tmem102 T G 11: 69,695,940 (GRCm39) L40F probably damaging Het
Tmem169 A G 1: 72,340,155 (GRCm39) N195S probably damaging Het
Tmem201 A T 4: 149,802,537 (GRCm39) S613T probably damaging Het
Tnfaip6 A T 2: 51,942,344 (GRCm39) I218F possibly damaging Het
Tube1 C A 10: 39,023,347 (GRCm39) H331Q probably benign Het
Wwc1 G A 11: 35,732,714 (GRCm39) T998I possibly damaging Het
Xpc A T 6: 91,475,104 (GRCm39) Y638* probably null Het
Zdhhc4 A T 5: 143,310,017 (GRCm39) Y80* 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
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
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'- CCGTCTTTGCTGTGACATCAG -3'
(R):5'- TTTGAGATGCAGTGAGCCAG -3'

Sequencing Primer
(F):5'- GCTGTGACATCAGTTACAAAGCTC -3'
(R):5'- TGCAGTGAGCCAGTTGAG -3'
Posted On 2014-10-01