Incidental Mutation 'IGL00429:Mre11a'
ID4936
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mre11a
Ensembl Gene ENSMUSG00000031928
Gene NameMRE11A homolog A, double strand break repair nuclease
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00429
Quality Score
Status
Chromosome9
Chromosomal Location14784654-14837123 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 14802813 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 237 (F237L)
Ref Sequence ENSEMBL: ENSMUSP00000111295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034405] [ENSMUST00000115632] [ENSMUST00000147305]
Predicted Effect probably damaging
Transcript: ENSMUST00000034405
AA Change: F237L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928
AA Change: F237L

DomainStartEndE-ValueType
Pfam:Metallophos 13 249 6.3e-15 PFAM
Mre11_DNA_bind 294 462 1.72e-70 SMART
coiled coil region 487 519 N/A INTRINSIC
low complexity region 566 594 N/A INTRINSIC
low complexity region 683 699 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115632
AA Change: F237L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111295
Gene: ENSMUSG00000031928
AA Change: F237L

DomainStartEndE-ValueType
Pfam:Metallophos 13 249 1.1e-31 PFAM
Mre11_DNA_bind 294 435 7.6e-49 SMART
coiled coil region 460 492 N/A INTRINSIC
low complexity region 539 567 N/A INTRINSIC
low complexity region 656 672 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136568
SMART Domains Protein: ENSMUSP00000121012
Gene: ENSMUSG00000031928

DomainStartEndE-ValueType
PDB:3T1I|D 1 107 1e-70 PDB
SCOP:d1ii7a_ 3 107 7e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147305
SMART Domains Protein: ENSMUSP00000116321
Gene: ENSMUSG00000031928

DomainStartEndE-ValueType
Pfam:Metallophos 13 199 1.2e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147676
SMART Domains Protein: ENSMUSP00000119999
Gene: ENSMUSG00000031928

DomainStartEndE-ValueType
PDB:3T1I|D 2 50 3e-26 PDB
Mre11_DNA_bind 62 170 1.81e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216810
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 nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Though mutation of this locus affected chromosome stability, mutant mice were no more susceptible to tumorigenesis than wild-type mice. Mutant female mice showed reduced fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009J07Rik G A 10: 77,893,839 probably benign Het
4933411K16Rik T C 19: 42,052,544 L38P probably damaging Het
Abca1 A G 4: 53,059,255 probably null Het
Abca15 T A 7: 120,397,054 I1401N probably damaging Het
Adam3 A C 8: 24,694,278 Y569D probably damaging Het
Ap2a1 T C 7: 44,905,768 S458G probably damaging Het
Asxl3 C T 18: 22,525,223 P2097S probably benign Het
AW551984 T C 9: 39,592,849 D607G probably benign Het
Ccdc158 C A 5: 92,657,881 M338I probably benign Het
Cdh23 A G 10: 60,421,141 S735P probably damaging Het
Cdh9 T C 15: 16,828,362 V180A probably damaging Het
Cyp4a31 A T 4: 115,574,974 probably benign Het
Dus4l A G 12: 31,641,669 V180A probably benign Het
Dysf A T 6: 84,189,844 T1672S probably damaging Het
F830016B08Rik T A 18: 60,300,268 L141Q probably damaging Het
Fhod3 A G 18: 24,994,540 E313G probably damaging Het
Gm4884 A G 7: 41,044,385 T593A probably benign Het
Hist1h2bm T C 13: 21,722,140 S15P possibly damaging Het
Il18r1 G A 1: 40,498,652 E526K possibly damaging Het
Lama4 A T 10: 39,011,026 H109L possibly damaging Het
Mab21l1 A C 3: 55,783,136 Q48P probably damaging Het
Magi3 T A 3: 104,014,978 K1474N probably damaging Het
Mst1r A T 9: 107,913,250 probably benign Het
Myh2 C T 11: 67,180,790 Q478* probably null Het
Mylip C A 13: 45,408,567 P282T probably benign Het
Mymk T C 2: 27,062,787 Y103C probably damaging Het
Necab1 A T 4: 15,052,656 N107K probably damaging Het
Pclo T C 5: 14,680,739 probably benign Het
Phgdh T C 3: 98,328,315 K129E probably damaging Het
Plxna4 T C 6: 32,162,091 Y1714C probably damaging Het
Pm20d2 A G 4: 33,187,205 probably benign Het
Ppfibp2 A G 7: 107,697,594 T172A probably benign Het
Prkca T C 11: 108,343,508 T54A probably benign Het
Prlr A G 15: 10,328,324 D295G probably benign Het
Rdh12 A G 12: 79,211,402 I68V probably benign Het
Slc14a2 A G 18: 78,150,438 F850L possibly damaging Het
Smad2 A T 18: 76,298,495 S185C possibly damaging Het
Soga1 A C 2: 157,030,864 F909C probably damaging Het
Trav13n-4 T A 14: 53,363,831 L19Q probably benign Het
Ush2a T A 1: 188,400,114 C844* probably null Het
Vwce T A 19: 10,664,511 probably null Het
Wdr95 T C 5: 149,595,244 probably benign Het
Zfp143 T C 7: 110,091,772 I510T probably damaging Het
Zfp930 G T 8: 69,227,982 K90N probably damaging Het
Other mutations in Mre11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Mre11a APN 9 14825208 missense probably benign 0.28
IGL00922:Mre11a APN 9 14799588 missense probably damaging 1.00
IGL01095:Mre11a APN 9 14809824 missense probably benign
IGL01294:Mre11a APN 9 14830915 missense probably damaging 0.97
IGL01871:Mre11a APN 9 14811897 missense possibly damaging 0.95
IGL02194:Mre11a APN 9 14815209 missense possibly damaging 0.70
IGL02213:Mre11a APN 9 14811884 missense probably damaging 1.00
IGL02245:Mre11a APN 9 14815276 unclassified probably benign
IGL02749:Mre11a APN 9 14826591 missense possibly damaging 0.78
IGL02812:Mre11a APN 9 14790670 splice site probably null
R0050:Mre11a UTSW 9 14830973 splice site probably benign
R0594:Mre11a UTSW 9 14815209 missense probably benign 0.00
R1241:Mre11a UTSW 9 14799639 missense probably damaging 1.00
R1905:Mre11a UTSW 9 14799627 missense probably benign 0.08
R2030:Mre11a UTSW 9 14795805 missense probably damaging 1.00
R2270:Mre11a UTSW 9 14815174 missense probably benign 0.00
R2511:Mre11a UTSW 9 14795769 critical splice acceptor site probably null
R2851:Mre11a UTSW 9 14826547 missense probably benign 0.00
R2852:Mre11a UTSW 9 14826547 missense probably benign 0.00
R2853:Mre11a UTSW 9 14826547 missense probably benign 0.00
R3765:Mre11a UTSW 9 14809847 missense probably benign 0.25
R4612:Mre11a UTSW 9 14802903 missense probably damaging 1.00
R5007:Mre11a UTSW 9 14809820 missense probably benign 0.10
R5343:Mre11a UTSW 9 14811834 missense probably damaging 0.98
R5679:Mre11a UTSW 9 14786919 missense probably damaging 0.99
R5834:Mre11a UTSW 9 14799657 missense probably benign 0.15
R5914:Mre11a UTSW 9 14811936 missense probably damaging 1.00
R5935:Mre11a UTSW 9 14786962 missense probably damaging 1.00
R6089:Mre11a UTSW 9 14819464 missense probably benign 0.02
R6393:Mre11a UTSW 9 14785509 start codon destroyed probably null 0.00
R6625:Mre11a UTSW 9 14805391 missense possibly damaging 0.52
R7248:Mre11a UTSW 9 14811913 missense possibly damaging 0.52
R7744:Mre11a UTSW 9 14809832 missense possibly damaging 0.94
R7999:Mre11a UTSW 9 14799669 nonsense probably null
R8179:Mre11a UTSW 9 14797066 missense probably null 1.00
Posted On2012-04-20