Incidental Mutation 'R5679:Mre11a'
ID 442937
Institutional Source Beutler Lab
Gene Symbol Mre11a
Ensembl Gene ENSMUSG00000031928
Gene Name MRE11A homolog A, double strand break repair nuclease
Synonyms
MMRRC Submission 043176-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5679 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 14695971-14748421 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14698215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 21 (I21N)
Ref Sequence ENSEMBL: ENSMUSP00000111295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034405] [ENSMUST00000034406] [ENSMUST00000115632] [ENSMUST00000147305] [ENSMUST00000214456] [ENSMUST00000215820] [ENSMUST00000214979] [ENSMUST00000216372] [ENSMUST00000216037]
AlphaFold Q61216
Predicted Effect probably damaging
Transcript: ENSMUST00000034405
AA Change: I21N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928
AA Change: I21N

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: ENSMUST00000034406
SMART Domains Protein: ENSMUSP00000034406
Gene: ENSMUSG00000031931

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 50 60 N/A INTRINSIC
ANK 72 102 1.02e3 SMART
ANK 106 135 7.24e-7 SMART
ANK 139 168 1.94e-7 SMART
ANK 172 203 1.37e2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115632
AA Change: I21N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111295
Gene: ENSMUSG00000031928
AA Change: I21N

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 probably damaging
Transcript: ENSMUST00000147305
AA Change: I21N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116321
Gene: ENSMUSG00000031928
AA Change: I21N

DomainStartEndE-ValueType
Pfam:Metallophos 13 199 1.2e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214882
Predicted Effect probably benign
Transcript: ENSMUST00000215820
AA Change: I21N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000214979
Predicted Effect probably benign
Transcript: ENSMUST00000216372
Predicted Effect probably benign
Transcript: ENSMUST00000216037
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3a1 G A 11: 61,107,994 (GRCm39) R346Q probably benign Het
Bcat1 A T 6: 144,953,474 (GRCm39) F304L probably damaging Het
Ccdc178 T G 18: 22,200,486 (GRCm39) K439N probably benign Het
Cdkn2a T C 4: 89,195,098 (GRCm39) D84G possibly damaging Het
Chst8 T A 7: 34,374,729 (GRCm39) H370L probably damaging Het
Dimt1 A G 13: 107,084,108 (GRCm39) T32A possibly damaging Het
Dph6 T C 2: 114,398,422 (GRCm39) I162V probably benign Het
E230025N22Rik C T 18: 36,818,435 (GRCm39) G465R possibly damaging Het
Fam3d T C 14: 8,349,305 (GRCm38) E215G probably damaging Het
Fbxw7 T A 3: 84,884,794 (GRCm39) N612K probably damaging Het
Gpr179 A G 11: 97,227,571 (GRCm39) V1528A probably benign Het
Gucy2g T A 19: 55,219,511 (GRCm39) K370N possibly damaging Het
Ipo13 A T 4: 117,752,029 (GRCm39) W903R probably damaging Het
Itgax T A 7: 127,734,162 (GRCm39) H311Q probably benign Het
Kmt2d T C 15: 98,752,153 (GRCm39) probably benign Het
Lox T C 18: 52,661,989 (GRCm39) N138S probably benign Het
Ncan T G 8: 70,565,276 (GRCm39) Y217S probably damaging Het
Nfil3 A G 13: 53,122,527 (GRCm39) F126L possibly damaging Het
Nfu1 T C 6: 86,996,379 (GRCm39) V110A probably damaging Het
Or12e8 T C 2: 87,187,889 (GRCm39) F34L possibly damaging Het
Or5e1 A G 7: 108,354,203 (GRCm39) I47V probably damaging Het
Or5g9 A T 2: 85,552,390 (GRCm39) I214F probably damaging Het
Palld T C 8: 62,137,979 (GRCm39) Q592R possibly damaging Het
Pcdhac1 T A 18: 37,225,530 (GRCm39) L781Q probably damaging Het
Rcl1 A G 19: 29,098,658 (GRCm39) probably null Het
Saxo1 C T 4: 86,363,272 (GRCm39) V404I possibly damaging Het
Scrt1 T A 15: 76,403,262 (GRCm39) T243S unknown Het
Slc22a30 G T 19: 8,313,135 (GRCm39) T550K possibly damaging Het
Strc A G 2: 121,198,581 (GRCm39) S1437P probably benign Het
Tecpr1 T A 5: 144,144,241 (GRCm39) I654F possibly damaging Het
Tfcp2l1 A G 1: 118,596,377 (GRCm39) M371V probably benign Het
Vmn2r11 T C 5: 109,202,708 (GRCm39) N123S probably benign Het
Wdr81 T C 11: 75,343,749 (GRCm39) D506G probably damaging Het
Xylt1 A G 7: 117,242,877 (GRCm39) D640G probably damaging Het
Zfp148 T G 16: 33,316,156 (GRCm39) M276R probably damaging Het
Zfp329 G A 7: 12,543,958 (GRCm39) T522I probably damaging Het
Other mutations in Mre11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Mre11a APN 9 14,736,504 (GRCm39) missense probably benign 0.28
IGL00429:Mre11a APN 9 14,714,109 (GRCm39) missense probably damaging 1.00
IGL00922:Mre11a APN 9 14,710,884 (GRCm39) missense probably damaging 1.00
IGL01095:Mre11a APN 9 14,721,120 (GRCm39) missense probably benign
IGL01294:Mre11a APN 9 14,742,211 (GRCm39) missense probably damaging 0.97
IGL01871:Mre11a APN 9 14,723,193 (GRCm39) missense possibly damaging 0.95
IGL02194:Mre11a APN 9 14,726,505 (GRCm39) missense possibly damaging 0.70
IGL02213:Mre11a APN 9 14,723,180 (GRCm39) missense probably damaging 1.00
IGL02245:Mre11a APN 9 14,726,572 (GRCm39) unclassified probably benign
IGL02749:Mre11a APN 9 14,737,887 (GRCm39) missense possibly damaging 0.78
IGL02812:Mre11a APN 9 14,701,966 (GRCm39) splice site probably null
bow UTSW 9 14,698,258 (GRCm39) missense probably damaging 1.00
R0050:Mre11a UTSW 9 14,742,269 (GRCm39) splice site probably benign
R0594:Mre11a UTSW 9 14,726,505 (GRCm39) missense probably benign 0.00
R1241:Mre11a UTSW 9 14,710,935 (GRCm39) missense probably damaging 1.00
R1905:Mre11a UTSW 9 14,710,923 (GRCm39) missense probably benign 0.08
R2030:Mre11a UTSW 9 14,707,101 (GRCm39) missense probably damaging 1.00
R2270:Mre11a UTSW 9 14,726,470 (GRCm39) missense probably benign 0.00
R2511:Mre11a UTSW 9 14,707,065 (GRCm39) critical splice acceptor site probably null
R2851:Mre11a UTSW 9 14,737,843 (GRCm39) missense probably benign 0.00
R2852:Mre11a UTSW 9 14,737,843 (GRCm39) missense probably benign 0.00
R2853:Mre11a UTSW 9 14,737,843 (GRCm39) missense probably benign 0.00
R3765:Mre11a UTSW 9 14,721,143 (GRCm39) missense probably benign 0.25
R4612:Mre11a UTSW 9 14,714,199 (GRCm39) missense probably damaging 1.00
R5007:Mre11a UTSW 9 14,721,116 (GRCm39) missense probably benign 0.10
R5343:Mre11a UTSW 9 14,723,130 (GRCm39) missense probably damaging 0.98
R5834:Mre11a UTSW 9 14,710,953 (GRCm39) missense probably benign 0.15
R5914:Mre11a UTSW 9 14,723,232 (GRCm39) missense probably damaging 1.00
R5935:Mre11a UTSW 9 14,698,258 (GRCm39) missense probably damaging 1.00
R6089:Mre11a UTSW 9 14,730,760 (GRCm39) missense probably benign 0.02
R6393:Mre11a UTSW 9 14,696,805 (GRCm39) start codon destroyed probably null 0.00
R6625:Mre11a UTSW 9 14,716,687 (GRCm39) missense possibly damaging 0.52
R7248:Mre11a UTSW 9 14,723,209 (GRCm39) missense possibly damaging 0.52
R7744:Mre11a UTSW 9 14,721,128 (GRCm39) missense possibly damaging 0.94
R7999:Mre11a UTSW 9 14,710,965 (GRCm39) nonsense probably null
R8179:Mre11a UTSW 9 14,708,362 (GRCm39) missense probably null 1.00
R9293:Mre11a UTSW 9 14,710,884 (GRCm39) missense probably damaging 1.00
R9302:Mre11a UTSW 9 14,696,826 (GRCm39) critical splice donor site probably null
R9368:Mre11a UTSW 9 14,736,514 (GRCm39) missense probably benign
R9410:Mre11a UTSW 9 14,716,716 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTGTGATGCTAACGATCTGTTG -3'
(R):5'- TTTAGCCAAGAAATGCCGAATGC -3'

Sequencing Primer
(F):5'- ACGATCTGTTGAGTACTGCAGAC -3'
(R):5'- GCCTGTTACCAAGGAAGT -3'
Posted On 2016-11-09