Incidental Mutation 'IGL01095:Mre11a'
ID 51910
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mre11a
Ensembl Gene ENSMUSG00000031928
Gene Name MRE11A homolog A, double strand break repair nuclease
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01095
Quality Score
Status
Chromosome 9
Chromosomal Location 14784654-14837123 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14809824 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 346 (S346R)
Ref Sequence ENSEMBL: ENSMUSP00000034405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034405] [ENSMUST00000115632]
AlphaFold Q61216
Predicted Effect probably benign
Transcript: ENSMUST00000034405
AA Change: S346R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928
AA Change: S346R

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 benign
Transcript: ENSMUST00000115632
SMART Domains Protein: ENSMUSP00000111295
Gene: ENSMUSG00000031928

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 unknown
Transcript: ENSMUST00000147676
AA Change: S113R
SMART Domains Protein: ENSMUSP00000119999
Gene: ENSMUSG00000031928
AA Change: S113R

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 A G 7: 139,845,654 T28A possibly damaging Het
Aldh8a1 A G 10: 21,389,281 E269G probably benign Het
Alkbh7 A G 17: 56,997,470 probably null Het
Ap1g2 T C 14: 55,105,114 T129A probably benign Het
Ap1s1 A G 5: 137,041,809 I117T probably damaging Het
Brca1 G A 11: 101,524,369 P119S possibly damaging Het
Chid1 A G 7: 141,530,229 V62A probably damaging Het
Cpa1 A T 6: 30,642,969 I299F probably benign Het
Cuzd1 A G 7: 131,316,136 V245A probably damaging Het
Ddx39b T C 17: 35,246,961 S71P probably benign Het
Ddx42 A G 11: 106,247,499 Y708C probably damaging Het
Dnah3 C A 7: 119,951,597 L3166F probably benign Het
Erap1 A G 13: 74,668,094 E114G probably benign Het
Fap G A 2: 62,524,201 T448I possibly damaging Het
Fhl2 A T 1: 43,131,681 Y158N probably benign Het
Fscb A G 12: 64,473,381 V437A possibly damaging Het
Gm5346 T A 8: 43,626,096 I364L probably benign Het
Il18 A T 9: 50,579,329 D88V probably damaging Het
Il5ra A T 6: 106,742,644 probably benign Het
Jakmip3 A T 7: 139,020,817 Q302L probably damaging Het
Lrp2 A T 2: 69,492,432 Y1857* probably null Het
Meis2 T C 2: 115,864,424 T406A probably benign Het
Myh15 A T 16: 49,132,015 K816M probably damaging Het
Mysm1 C T 4: 94,967,869 probably null Het
Nyap1 C A 5: 137,738,084 R47L probably damaging Het
Oas3 A G 5: 120,772,889 Y209H probably damaging Het
Olfr1279 A G 2: 111,306,621 R139G probably benign Het
Olfr1396 T G 11: 49,112,853 Y291S probably damaging Het
Olfr799 A G 10: 129,647,629 D167G probably benign Het
Olfr901 A G 9: 38,430,515 I78V probably benign Het
Olfr974 T C 9: 39,942,680 V140A probably benign Het
Pde4b T C 4: 102,506,044 probably null Het
Psd3 G A 8: 67,908,513 T99M probably damaging Het
R3hcc1 T C 14: 69,700,028 E390G probably damaging Het
Rabgap1l A C 1: 160,738,969 C58W probably benign Het
Rasd1 A G 11: 59,964,291 I121T probably damaging Het
Spta1 A G 1: 174,213,485 N1284D probably benign Het
Tpr T C 1: 150,410,140 V525A possibly damaging Het
Other mutations in Mre11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Mre11a APN 9 14825208 missense probably benign 0.28
IGL00429:Mre11a APN 9 14802813 missense probably damaging 1.00
IGL00922:Mre11a APN 9 14799588 missense probably damaging 1.00
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
bow UTSW 9 14786962 missense probably damaging 1.00
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
R9293:Mre11a UTSW 9 14799588 missense probably damaging 1.00
R9302:Mre11a UTSW 9 14785530 critical splice donor site probably null
R9368:Mre11a UTSW 9 14825218 missense probably benign
R9410:Mre11a UTSW 9 14805420 missense probably damaging 1.00
Posted On 2013-06-21