Incidental Mutation 'R2852:Mre11a'
| ID |
252317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mre11a
|
| Ensembl Gene |
ENSMUSG00000031928 |
| Gene Name |
MRE11A homolog A, double strand break repair nuclease |
| Synonyms |
|
| MMRRC Submission |
040445-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2852 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
14695971-14748421 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14737843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 599
(E599G)
|
| 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: E599G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928
AA Change: E599G
| Domain | Start | End | E-Value | Type |
|---|
|
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
AA Change: E572G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000111295
Gene: ENSMUSG00000031928
AA Change: E572G
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Meta Mutation Damage Score |
0.0585 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (46/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
A |
C |
1: 34,763,129 (GRCm39) |
D795A |
unknown |
Het |
| Bank1 |
A |
T |
3: 135,948,701 (GRCm39) |
S159T |
possibly damaging |
Het |
| Catsperd |
A |
G |
17: 56,967,169 (GRCm39) |
|
probably null |
Het |
| Cblc |
A |
G |
7: 19,514,889 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,776,017 (GRCm39) |
Y48C |
probably damaging |
Het |
| Chrng |
A |
G |
1: 87,134,428 (GRCm39) |
I156M |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,532,878 (GRCm39) |
N297K |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,081,515 (GRCm39) |
E559G |
probably damaging |
Het |
| Dnai4 |
A |
G |
4: 102,953,858 (GRCm39) |
S114P |
probably benign |
Het |
| Dzip1 |
A |
C |
14: 119,159,857 (GRCm39) |
M117R |
possibly damaging |
Het |
| Ednrb |
G |
T |
14: 104,059,110 (GRCm39) |
S305R |
probably benign |
Het |
| Egflam |
A |
T |
15: 7,249,182 (GRCm39) |
W879R |
probably damaging |
Het |
| Ehbp1l1 |
T |
A |
19: 5,766,515 (GRCm39) |
D332V |
probably damaging |
Het |
| Far1 |
T |
C |
7: 113,152,944 (GRCm39) |
Y351H |
possibly damaging |
Het |
| Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
| Hspd1 |
A |
T |
1: 55,120,256 (GRCm39) |
D315E |
probably damaging |
Het |
| Kap |
T |
C |
6: 133,827,057 (GRCm39) |
K92E |
probably benign |
Het |
| Kcnv2 |
T |
C |
19: 27,300,496 (GRCm39) |
Y116H |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,456,870 (GRCm39) |
Y170C |
probably damaging |
Het |
| Krtap13 |
T |
C |
16: 88,548,524 (GRCm39) |
|
probably benign |
Het |
| Man2a1 |
A |
G |
17: 65,020,596 (GRCm39) |
K791E |
probably benign |
Het |
| Map4k4 |
T |
A |
1: 40,039,915 (GRCm39) |
|
probably benign |
Het |
| Mdc1 |
T |
A |
17: 36,159,902 (GRCm39) |
V670D |
probably benign |
Het |
| Mrln |
T |
C |
10: 70,055,456 (GRCm39) |
I44T |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,381,769 (GRCm39) |
F3724I |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,221,301 (GRCm39) |
|
probably benign |
Het |
| Oosp3 |
T |
A |
19: 11,676,896 (GRCm39) |
|
probably null |
Het |
| Pah |
T |
A |
10: 87,403,327 (GRCm39) |
L131Q |
probably damaging |
Het |
| Pde6h |
G |
A |
6: 136,940,206 (GRCm39) |
C64Y |
probably damaging |
Het |
| Pdzd7 |
C |
G |
19: 45,016,113 (GRCm39) |
V1003L |
probably benign |
Het |
| Pilra |
T |
A |
5: 137,834,342 (GRCm39) |
M14L |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,470,416 (GRCm39) |
|
probably null |
Het |
| Rnf168 |
A |
G |
16: 32,101,192 (GRCm39) |
E124G |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Spata1 |
A |
G |
3: 146,193,295 (GRCm39) |
L96P |
possibly damaging |
Het |
| Stk11ip |
A |
G |
1: 75,505,911 (GRCm39) |
|
probably benign |
Het |
| Stx5a |
T |
C |
19: 8,732,476 (GRCm39) |
|
probably benign |
Het |
| Tek |
A |
G |
4: 94,708,461 (GRCm39) |
T340A |
probably benign |
Het |
| Tmeff1 |
T |
A |
4: 48,604,692 (GRCm39) |
|
probably null |
Het |
| Vmn2r85 |
T |
A |
10: 130,255,035 (GRCm39) |
M550L |
probably benign |
Het |
| Zfp14 |
A |
G |
7: 29,738,596 (GRCm39) |
Y130H |
probably benign |
Het |
| Zfp653 |
A |
T |
9: 21,968,862 (GRCm39) |
D426E |
probably benign |
Het |
| Zfyve28 |
G |
A |
5: 34,354,006 (GRCm39) |
P834L |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,957,364 (GRCm39) |
T549A |
possibly damaging |
Het |
|
| Other mutations in Mre11a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
R5679:Mre11a
|
UTSW |
9 |
14,698,215 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- CCTAAAGCGTAACCGAGGAC -3'
(R):5'- GAATTACTCAGCTCAGCTCAGC -3'
Sequencing Primer
(F):5'- CCAGGGTGACTAAGGACAGTCTG -3'
(R):5'- CAGAGTGTTTTAGCCTGACATC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation