Incidental Mutation 'R3765:Mre11a'
ID |
274655 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mre11a
|
Ensembl Gene |
ENSMUSG00000031928 |
Gene Name |
MRE11A homolog A, double strand break repair nuclease |
Synonyms |
|
MMRRC Submission |
040742-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3765 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
14695971-14748421 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 14721143 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 354
(N354S)
|
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: N354S
PolyPhen 2
Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000034405 Gene: ENSMUSG00000031928 AA Change: N354S
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
|
SMART Domains |
Protein: ENSMUSP00000111295 Gene: ENSMUSG00000031928
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 |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000147676
AA Change: N121S
|
SMART Domains |
Protein: ENSMUSP00000119999 Gene: ENSMUSG00000031928 AA Change: N121S
Domain | Start | End | E-Value | Type |
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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
T |
C |
7: 75,258,585 (GRCm39) |
V403A |
probably benign |
Het |
Arid2 |
T |
C |
15: 96,268,595 (GRCm39) |
S903P |
probably benign |
Het |
Arl6ip6 |
T |
A |
2: 53,082,243 (GRCm39) |
W37R |
probably damaging |
Het |
Bag3 |
C |
T |
7: 128,141,995 (GRCm39) |
T162I |
probably benign |
Het |
C4b |
G |
A |
17: 34,948,814 (GRCm39) |
P1545S |
probably damaging |
Het |
Ccdc185 |
T |
A |
1: 182,575,117 (GRCm39) |
H524L |
possibly damaging |
Het |
Cfap43 |
T |
C |
19: 47,824,014 (GRCm39) |
N119S |
probably benign |
Het |
Churc1 |
C |
A |
12: 76,820,057 (GRCm39) |
S22* |
probably null |
Het |
Crbn |
T |
C |
6: 106,771,987 (GRCm39) |
K106E |
possibly damaging |
Het |
Dag1 |
C |
T |
9: 108,085,398 (GRCm39) |
G581E |
probably damaging |
Het |
Dpp4 |
T |
A |
2: 62,216,780 (GRCm39) |
T92S |
probably benign |
Het |
Fam135a |
T |
C |
1: 24,094,958 (GRCm39) |
T137A |
possibly damaging |
Het |
Fcsk |
A |
G |
8: 111,613,736 (GRCm39) |
I775T |
probably benign |
Het |
Fermt1 |
T |
C |
2: 132,748,622 (GRCm39) |
D667G |
possibly damaging |
Het |
Foxl2 |
T |
A |
9: 98,838,039 (GRCm39) |
I109N |
probably damaging |
Het |
Frk |
A |
G |
10: 34,360,001 (GRCm39) |
M1V |
probably null |
Het |
Gstm2 |
A |
G |
3: 107,891,346 (GRCm39) |
F124S |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,620,776 (GRCm39) |
S1145G |
possibly damaging |
Het |
Ints10 |
A |
G |
8: 69,277,771 (GRCm39) |
T682A |
possibly damaging |
Het |
Jmy |
T |
C |
13: 93,601,219 (GRCm39) |
M396V |
possibly damaging |
Het |
Ldb3 |
A |
T |
14: 34,300,639 (GRCm39) |
|
probably null |
Het |
Nbea |
A |
G |
3: 55,912,970 (GRCm39) |
V939A |
probably damaging |
Het |
Nphs1 |
T |
C |
7: 30,170,635 (GRCm39) |
S928P |
probably damaging |
Het |
Or5b109 |
G |
A |
19: 13,211,795 (GRCm39) |
M60I |
probably damaging |
Het |
Or7a40 |
A |
G |
16: 16,491,179 (GRCm39) |
V222A |
probably benign |
Het |
Or8g34 |
T |
A |
9: 39,372,920 (GRCm39) |
Y61* |
probably null |
Het |
Or9e1 |
T |
C |
11: 58,732,120 (GRCm39) |
F60S |
probably damaging |
Het |
Pla2g12b |
G |
A |
10: 59,257,323 (GRCm39) |
V169M |
probably damaging |
Het |
Polr1c |
C |
T |
17: 46,558,850 (GRCm39) |
V14M |
probably damaging |
Het |
Prg4 |
G |
A |
1: 150,327,122 (GRCm39) |
S898L |
probably damaging |
Het |
Prmt6 |
C |
A |
3: 110,157,510 (GRCm39) |
E260* |
probably null |
Het |
Ptx4 |
A |
G |
17: 25,341,842 (GRCm39) |
T106A |
probably benign |
Het |
Rab3il1 |
A |
G |
19: 10,005,673 (GRCm39) |
T87A |
probably damaging |
Het |
Sbf2 |
A |
G |
7: 109,974,788 (GRCm39) |
V783A |
probably damaging |
Het |
Scn2a |
A |
C |
2: 65,513,054 (GRCm39) |
D209A |
possibly damaging |
Het |
Setd2 |
T |
C |
9: 110,423,314 (GRCm39) |
L345P |
probably damaging |
Het |
Slc18b1 |
A |
G |
10: 23,674,647 (GRCm39) |
D34G |
probably damaging |
Het |
Slc9c1 |
A |
T |
16: 45,411,244 (GRCm39) |
M934L |
possibly damaging |
Het |
Slx4 |
A |
G |
16: 3,798,850 (GRCm39) |
V1357A |
probably damaging |
Het |
Spidr |
T |
C |
16: 15,786,504 (GRCm39) |
E413G |
probably benign |
Het |
Taar1 |
A |
G |
10: 23,797,205 (GRCm39) |
Y301C |
probably damaging |
Het |
Tada2b |
A |
T |
5: 36,633,761 (GRCm39) |
D197E |
probably benign |
Het |
Taf1c |
G |
T |
8: 120,327,224 (GRCm39) |
Y418* |
probably null |
Het |
Tanc2 |
A |
G |
11: 105,805,796 (GRCm39) |
D394G |
probably damaging |
Het |
Tnpo3 |
T |
C |
6: 29,579,688 (GRCm39) |
D235G |
probably benign |
Het |
Tns3 |
G |
A |
11: 8,401,133 (GRCm39) |
A1055V |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,009,266 (GRCm39) |
Y2767H |
probably damaging |
Het |
Zfhx3 |
A |
G |
8: 109,519,394 (GRCm39) |
N172S |
probably damaging |
Het |
Zfp839 |
T |
C |
12: 110,821,597 (GRCm39) |
V137A |
probably benign |
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 |
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 |
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'- ACTGTTAAGGGACGAGGTTG -3'
(R):5'- AGTTCACCTGAGATTAGACCAAGC -3'
Sequencing Primer
(F):5'- GGCCACAAGCTTTAAATGATGC -3'
(R):5'- TGAGATTAGACCAAGCCCACAG -3'
|
Posted On |
2015-04-02 |