Incidental Mutation 'R0050:Mre11a'
| ID |
18492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mre11a
|
| Ensembl Gene |
ENSMUSG00000031928 |
| Gene Name |
MRE11A homolog A, double strand break repair nuclease |
| Synonyms |
|
| MMRRC Submission |
038344-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0050 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
14695971-14748421 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 14742269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111295
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034405]
[ENSMUST00000115632]
|
| AlphaFold |
Q61216 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034405
|
| SMART Domains |
Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928
| 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 |
|
| Coding Region Coverage |
- 1x: 88.6%
- 3x: 85.4%
- 10x: 76.7%
- 20x: 62.7%
|
| Validation Efficiency |
90% (86/96) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,069,910 (GRCm39) |
|
probably benign |
Het |
| Abca9 |
C |
T |
11: 110,036,417 (GRCm39) |
C564Y |
probably damaging |
Het |
| Abhd14a |
A |
T |
9: 106,318,082 (GRCm39) |
|
probably benign |
Het |
| Acnat2 |
G |
A |
4: 49,380,586 (GRCm39) |
T264I |
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,666,222 (GRCm39) |
V406A |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,124,673 (GRCm39) |
|
probably benign |
Het |
| Akr1c13 |
T |
C |
13: 4,244,669 (GRCm39) |
|
probably benign |
Het |
| Ankar |
T |
A |
1: 72,695,323 (GRCm39) |
E1093D |
probably damaging |
Het |
| Arhgef38 |
C |
A |
3: 132,837,957 (GRCm39) |
D75Y |
probably damaging |
Het |
| Asns |
T |
C |
6: 7,676,019 (GRCm39) |
I484V |
probably benign |
Het |
| Astn1 |
T |
C |
1: 158,407,294 (GRCm39) |
|
probably benign |
Het |
| Atg4b |
T |
A |
1: 93,715,440 (GRCm39) |
|
probably benign |
Het |
| Cadm2 |
A |
G |
16: 66,750,154 (GRCm39) |
|
probably benign |
Het |
| Ces2c |
T |
A |
8: 105,574,831 (GRCm39) |
M96K |
probably benign |
Het |
| Cpd |
T |
A |
11: 76,683,685 (GRCm39) |
T1025S |
possibly damaging |
Het |
| Daw1 |
T |
C |
1: 83,158,086 (GRCm39) |
V45A |
probably benign |
Het |
| Dmrt3 |
C |
A |
19: 25,599,953 (GRCm39) |
P266H |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,907,808 (GRCm39) |
T4416A |
probably benign |
Het |
| Dock9 |
A |
G |
14: 121,844,637 (GRCm39) |
V1124A |
probably benign |
Het |
| Ermp1 |
C |
A |
19: 29,606,184 (GRCm39) |
A190S |
probably damaging |
Het |
| Gm10267 |
T |
A |
18: 44,289,520 (GRCm39) |
|
probably benign |
Het |
| Golga2 |
T |
A |
2: 32,182,139 (GRCm39) |
V29D |
probably damaging |
Het |
| Gprc6a |
T |
A |
10: 51,491,485 (GRCm39) |
M755L |
probably damaging |
Het |
| H1f8 |
G |
T |
6: 115,924,729 (GRCm39) |
K78N |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,089,051 (GRCm39) |
D1574V |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,537,160 (GRCm39) |
H268Q |
probably damaging |
Het |
| Lmntd1 |
T |
C |
6: 145,363,202 (GRCm39) |
D107G |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,904,792 (GRCm39) |
V1614A |
probably damaging |
Het |
| Mmp12 |
A |
G |
9: 7,350,152 (GRCm39) |
|
probably benign |
Het |
| Mtrf1l |
T |
C |
10: 5,765,553 (GRCm39) |
|
silent |
Het |
| Oaz2 |
A |
G |
9: 65,595,084 (GRCm39) |
E61G |
probably damaging |
Het |
| Parp3 |
A |
T |
9: 106,348,600 (GRCm39) |
D473E |
possibly damaging |
Het |
| Pear1 |
G |
T |
3: 87,663,294 (GRCm39) |
Y441* |
probably null |
Het |
| Pkhd1l1 |
A |
T |
15: 44,437,203 (GRCm39) |
T3493S |
possibly damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,581,820 (GRCm39) |
V65A |
possibly damaging |
Het |
| Rheb |
A |
T |
5: 25,022,832 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
G |
A |
10: 51,977,899 (GRCm39) |
T1449M |
probably damaging |
Het |
| Scn4a |
C |
G |
11: 106,211,682 (GRCm39) |
R1445P |
probably damaging |
Het |
| Sema3d |
T |
A |
5: 12,634,920 (GRCm39) |
M662K |
probably benign |
Het |
| Skp2 |
A |
G |
15: 9,125,178 (GRCm39) |
F134L |
probably benign |
Het |
| Slc6a12 |
T |
C |
6: 121,337,378 (GRCm39) |
|
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,362,039 (GRCm39) |
Y260C |
probably damaging |
Het |
| Spin1 |
T |
A |
13: 51,304,454 (GRCm39) |
|
probably benign |
Het |
| Stx2 |
A |
G |
5: 129,076,572 (GRCm39) |
|
probably null |
Het |
| Sycp2 |
A |
T |
2: 178,006,504 (GRCm39) |
V863D |
probably damaging |
Het |
| Tgfb3 |
T |
A |
12: 86,116,658 (GRCm39) |
I127F |
possibly damaging |
Het |
| Tgif1 |
T |
G |
17: 71,157,879 (GRCm39) |
K2Q |
probably damaging |
Het |
| Trmt2a |
A |
T |
16: 18,068,707 (GRCm39) |
E234D |
probably damaging |
Het |
| Trps1 |
A |
T |
15: 50,628,921 (GRCm39) |
S696T |
probably benign |
Het |
| Ucp1 |
A |
G |
8: 84,020,857 (GRCm39) |
E191G |
probably damaging |
Het |
| Usp48 |
C |
A |
4: 137,341,114 (GRCm39) |
D371E |
probably damaging |
Het |
| Usp54 |
A |
T |
14: 20,623,823 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Posted On |
2013-03-25 |
Incidental Mutation