Incidental Mutation 'IGL00772:Eme1'
ID13446
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eme1
Ensembl Gene ENSMUSG00000039055
Gene Nameessential meiotic structure-specific endonuclease 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00772
Quality Score
Status
Chromosome11
Chromosomal Location94644996-94653964 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 94645451 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 564 (L564P)
Ref Sequence ENSEMBL: ENSMUSP00000036361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021239] [ENSMUST00000039949]
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: L564P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036361
Gene: ENSMUSG00000039055
AA Change: L564P

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: ENSMUST00000128643
Meta Mutation Damage Score 0.8728 question?
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A T 1: 59,169,896 C1501* probably null Het
Ap3b2 T C 7: 81,471,949 E513G probably damaging Het
Cdh19 T C 1: 110,949,252 D119G probably damaging Het
Clasp2 A G 9: 113,905,992 probably benign Het
Cobl A G 11: 12,266,985 M419T probably benign Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Ctu2 T C 8: 122,477,238 probably benign Het
Dnah2 A C 11: 69,451,257 Y2968D probably damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Folh1 A G 7: 86,731,784 S494P probably damaging Het
Fras1 T A 5: 96,636,112 I825N probably benign Het
Grk1 A G 8: 13,405,349 T78A probably benign Het
Lipi A T 16: 75,550,366 probably benign Het
Mak A T 13: 41,055,820 probably benign Het
Prkd1 T C 12: 50,383,416 E636G probably damaging Het
Psmd1 T C 1: 86,090,198 probably benign Het
Scara5 G A 14: 65,670,562 probably benign Het
Skint8 A G 4: 111,938,923 I265V probably benign Het
Slc48a1 A G 15: 97,789,954 Y63C probably damaging Het
Slc4a2 G T 5: 24,435,196 V598L probably damaging Het
Smo A T 6: 29,758,894 K565* probably null Het
Spink5 A G 18: 44,006,420 I617V probably benign Het
Tmed11 T C 5: 108,786,165 D55G probably benign Het
Tro A G X: 150,655,325 V112A probably benign Het
Utrn G A 10: 12,649,185 R2185C probably benign Het
Other mutations in Eme1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02402:Eme1 APN 11 94650907 missense possibly damaging 0.65
R0220:Eme1 UTSW 11 94650258 missense probably null 1.00
R0594:Eme1 UTSW 11 94650430 missense possibly damaging 0.63
R0608:Eme1 UTSW 11 94650082 missense probably damaging 1.00
R0842:Eme1 UTSW 11 94650874 missense probably benign 0.24
R0925:Eme1 UTSW 11 94650732 missense probably damaging 0.99
R1146:Eme1 UTSW 11 94645451 missense probably damaging 1.00
R1146:Eme1 UTSW 11 94645451 missense probably damaging 1.00
R1161:Eme1 UTSW 11 94645542 missense probably damaging 1.00
R1310:Eme1 UTSW 11 94645542 missense probably damaging 1.00
R1837:Eme1 UTSW 11 94645961 missense probably benign 0.14
R2138:Eme1 UTSW 11 94648192 missense probably damaging 1.00
R2420:Eme1 UTSW 11 94645814 critical splice donor site probably null
R2427:Eme1 UTSW 11 94650975 unclassified probably benign
R3807:Eme1 UTSW 11 94650592 missense probably damaging 1.00
R4230:Eme1 UTSW 11 94647992 missense possibly damaging 0.69
R6889:Eme1 UTSW 11 94650477 missense probably benign 0.00
R7752:Eme1 UTSW 11 94650819 missense probably damaging 1.00
R7759:Eme1 UTSW 11 94645840 nonsense probably null
R7901:Eme1 UTSW 11 94650819 missense probably damaging 1.00
X0021:Eme1 UTSW 11 94650518 missense possibly damaging 0.56
Z1176:Eme1 UTSW 11 94650696 missense possibly damaging 0.46
Posted On2012-12-06