Incidental Mutation 'R1837:Eme1'
ID 205423
Institutional Source Beutler Lab
Gene Symbol Eme1
Ensembl Gene ENSMUSG00000039055
Gene Name essential meiotic structure-specific endonuclease 1
Synonyms
MMRRC Submission 039864-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1837 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 94535798-94544611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94536787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 464 (D464G)
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 benign
Transcript: ENSMUST00000039949
AA Change: D464G

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000036361
Gene: ENSMUSG00000039055
AA Change: D464G

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
Meta Mutation Damage Score 0.1005 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.6%
Validation Efficiency 99% (86/87)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl10 G T 2: 154,394,962 (GRCm39) G305W probably damaging Het
Actr3b A T 5: 26,030,157 (GRCm39) T74S probably benign Het
Add2 A G 6: 86,095,540 (GRCm39) E652G probably damaging Het
Alg9 T A 9: 50,717,615 (GRCm39) V83D probably damaging Het
Atp13a2 T A 4: 140,721,643 (GRCm39) Y244* probably null Het
BB014433 C G 8: 15,092,629 (GRCm39) V75L unknown Het
Bcr A G 10: 75,003,932 (GRCm39) probably benign Het
Begain G A 12: 109,001,249 (GRCm39) probably benign Het
Bzw1 A G 1: 58,439,277 (GRCm39) K67E probably damaging Het
Ccdc141 T C 2: 76,842,009 (GRCm39) E1474G probably benign Het
Cdc73 T A 1: 143,543,395 (GRCm39) T314S possibly damaging Het
Cfap206 T C 4: 34,728,813 (GRCm39) T31A probably damaging Het
Cfap58 G A 19: 48,017,578 (GRCm39) E813K probably damaging Het
Clstn2 C A 9: 97,465,593 (GRCm39) A133S probably benign Het
Col14a1 A T 15: 55,245,891 (GRCm39) D465V unknown Het
Col2a1 C T 15: 97,894,522 (GRCm39) probably benign Het
Dab2 A G 15: 6,365,957 (GRCm39) probably benign Het
Eml6 T C 11: 29,699,802 (GRCm39) probably null Het
Ern1 C A 11: 106,349,783 (GRCm39) L44F probably damaging Het
Fam111a T A 19: 12,564,816 (GRCm39) S188R probably benign Het
Fam151b A T 13: 92,610,639 (GRCm39) probably benign Het
Fmo6 T C 1: 162,750,379 (GRCm39) N226D probably benign Het
Ggt1 A G 10: 75,415,128 (GRCm39) D214G probably benign Het
Gm14226 A G 2: 154,866,930 (GRCm39) I296V probably benign Het
Gm9915 A T 1: 42,269,847 (GRCm39) noncoding transcript Het
Heatr5b T C 17: 79,128,180 (GRCm39) D485G possibly damaging Het
Helz2 A T 2: 180,871,082 (GRCm39) I2785N probably damaging Het
Htt C T 5: 34,976,367 (GRCm39) T723M probably benign Het
Hydin C A 8: 111,296,257 (GRCm39) H3595Q probably benign Het
Il6ra T C 3: 89,797,579 (GRCm39) D96G probably benign Het
Kif5a G A 10: 127,072,684 (GRCm39) Q702* probably null Het
Klhdc7a G T 4: 139,694,381 (GRCm39) P189T probably benign Het
Krt7 A G 15: 101,317,463 (GRCm39) D252G probably benign Het
Lad1 C A 1: 135,757,444 (GRCm39) D394E probably benign Het
Lhx8 A T 3: 154,033,692 (GRCm39) C38S possibly damaging Het
Lta4h C T 10: 93,305,037 (GRCm39) T280M probably damaging Het
Magi2 A T 5: 20,670,825 (GRCm39) T163S probably damaging Het
Med1 G T 11: 98,060,238 (GRCm39) D230E probably damaging Het
Mmp1b A T 9: 7,386,409 (GRCm39) F171I probably damaging Het
Mprip T C 11: 59,657,571 (GRCm39) V801A probably damaging Het
Mtrf1 A G 14: 79,639,273 (GRCm39) E135G possibly damaging Het
Muc5ac T A 7: 141,360,823 (GRCm39) M1378K probably benign Het
Myo3a A T 2: 22,467,604 (GRCm39) Q286L possibly damaging Het
Ndor1 C T 2: 25,138,408 (GRCm39) G391R probably damaging Het
Nefl C T 14: 68,324,075 (GRCm39) R438C probably damaging Het
Nlrp3 G A 11: 59,439,742 (GRCm39) V440I probably benign Het
Notch3 A T 17: 32,343,296 (GRCm39) L1959Q probably damaging Het
Noto A G 6: 85,401,159 (GRCm39) T63A probably benign Het
Oc90 G A 15: 65,761,529 (GRCm39) T163M probably damaging Het
Or1l4 T A 2: 37,092,114 (GRCm39) M287K probably benign Het
Or4c114 A T 2: 88,905,176 (GRCm39) Y86* probably null Het
Or5an10 A G 19: 12,275,740 (GRCm39) V252A probably damaging Het
Pdpr C A 8: 111,861,366 (GRCm39) P787T probably damaging Het
Phlda1 A G 10: 111,343,092 (GRCm39) Q276R probably benign Het
Ptpn21 T G 12: 98,699,885 (GRCm39) K10Q probably damaging Het
Ptprb A G 10: 116,177,531 (GRCm39) E1364G probably benign Het
Rabep1 T A 11: 70,795,484 (GRCm39) W237R probably damaging Het
Rai1 A T 11: 60,080,224 (GRCm39) K1429N probably damaging Het
Rapgef1 A G 2: 29,627,438 (GRCm39) I1027M probably damaging Het
Rit1 C G 3: 88,636,477 (GRCm39) T127S probably damaging Het
Rpap1 A C 2: 119,600,366 (GRCm39) probably null Het
Senp7 T A 16: 55,978,879 (GRCm39) C471S probably benign Het
Slc16a14 A G 1: 84,890,120 (GRCm39) V395A probably benign Het
Slc45a1 C T 4: 150,722,916 (GRCm39) G323S probably benign Het
Syne2 A T 12: 76,014,434 (GRCm39) E3208D probably damaging Het
Tap1 C T 17: 34,407,083 (GRCm39) A77V possibly damaging Het
Ticam1 T C 17: 56,577,799 (GRCm39) E432G possibly damaging Het
Tmem192 C A 8: 65,416,992 (GRCm39) probably benign Het
Trub1 T C 19: 57,441,461 (GRCm39) V28A probably benign Het
Ttc21b A T 2: 66,028,106 (GRCm39) L1121H probably benign Het
Ttc38 A G 15: 85,735,764 (GRCm39) D290G probably damaging Het
Ulk1 C T 5: 110,937,247 (GRCm39) G683D probably damaging Het
Vmn1r122 A T 7: 20,867,291 (GRCm39) F255I probably benign Het
Vmn2r68 T A 7: 84,882,886 (GRCm39) I289F probably damaging Het
Vps39 A T 2: 120,155,878 (GRCm39) L514H probably damaging Het
Wdr48 T G 9: 119,734,482 (GRCm39) S134A probably damaging Het
Yap1 A T 9: 7,962,350 (GRCm39) Y139N probably damaging Het
Ylpm1 T C 12: 85,076,107 (GRCm39) V486A possibly damaging Het
Zbtb38 T C 9: 96,569,048 (GRCm39) T679A probably benign Het
Zfp292 A G 4: 34,810,264 (GRCm39) S927P probably damaging Het
Zfp324 C T 7: 12,704,156 (GRCm39) T115I probably benign Het
Zfp523 T A 17: 28,413,967 (GRCm39) I34N probably damaging Het
Zfp945 A T 17: 23,070,247 (GRCm39) C551S probably damaging Het
Zfp958 A G 8: 4,678,590 (GRCm39) H205R probably damaging Het
Zfp974 G A 7: 27,609,781 (GRCm39) P648L possibly damaging 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
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'- ACACTGCTGACCTACATTCCTG -3'
(R):5'- GAGACTCAAACTGGCCCAATG -3'

Sequencing Primer
(F):5'- TGTTTGGAGAGCAAGGTCACCC -3'
(R):5'- CTGGCCCAATGTAACATTAAGTC -3'
Posted On 2014-06-23