Incidental Mutation 'IGL02213:Mre11a'
| ID |
284742 |
| 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)
|
| Stock # |
IGL02213
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
14695971-14748421 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14723180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 358
(F358I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111295
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034405]
[ENSMUST00000115632]
|
| AlphaFold |
Q61216 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034405
AA Change: F385I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928
AA Change: F385I
| 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 damaging
Transcript: ENSMUST00000115632
AA Change: F358I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111295
Gene: ENSMUSG00000031928
AA Change: F358I
| 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: F152I
|
| SMART Domains |
Protein: ENSMUSP00000119999
Gene: ENSMUSG00000031928
AA Change: F152I
| 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 |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
G |
A |
9: 54,523,254 (GRCm39) |
R458C |
probably damaging |
Het |
| Aldh6a1 |
T |
A |
12: 84,479,326 (GRCm39) |
|
probably benign |
Het |
| Ankrd13a |
C |
T |
5: 114,924,029 (GRCm39) |
R42W |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,539,633 (GRCm39) |
M73V |
probably benign |
Het |
| Borcs6 |
A |
G |
11: 68,950,679 (GRCm39) |
E19G |
probably benign |
Het |
| Cacna2d2 |
C |
T |
9: 107,391,247 (GRCm39) |
R425C |
probably damaging |
Het |
| Cap2 |
T |
A |
13: 46,789,087 (GRCm39) |
|
probably benign |
Het |
| Ccdc146 |
C |
T |
5: 21,521,902 (GRCm39) |
R374H |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,235,839 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,318,090 (GRCm39) |
D357G |
probably damaging |
Het |
| Dleu7 |
C |
T |
14: 62,514,404 (GRCm39) |
V193M |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,010,741 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,272,752 (GRCm39) |
F2293L |
probably damaging |
Het |
| Fgf22 |
G |
T |
10: 79,592,449 (GRCm39) |
V75L |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,793,730 (GRCm39) |
C1017* |
probably null |
Het |
| Frmd3 |
A |
C |
4: 74,054,109 (GRCm39) |
I173L |
probably benign |
Het |
| Fst |
T |
C |
13: 114,592,390 (GRCm39) |
N109S |
possibly damaging |
Het |
| Greb1 |
A |
G |
12: 16,756,233 (GRCm39) |
L801P |
probably damaging |
Het |
| Ift88 |
A |
G |
14: 57,715,502 (GRCm39) |
D515G |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 62,569,706 (GRCm39) |
D730G |
probably damaging |
Het |
| Mbd1 |
A |
T |
18: 74,408,453 (GRCm39) |
I231F |
probably damaging |
Het |
| Mroh9 |
G |
T |
1: 162,885,648 (GRCm39) |
T328K |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,014,262 (GRCm39) |
L406P |
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 78,112,679 (GRCm39) |
Q159L |
probably benign |
Het |
| Oca2 |
T |
C |
7: 55,971,232 (GRCm39) |
|
probably benign |
Het |
| Or4k49 |
A |
T |
2: 111,495,020 (GRCm39) |
T150S |
probably benign |
Het |
| Or51af1 |
T |
A |
7: 103,141,695 (GRCm39) |
H130L |
probably benign |
Het |
| Or5p54 |
T |
C |
7: 107,554,511 (GRCm39) |
I221T |
probably damaging |
Het |
| Pfdn4 |
C |
T |
2: 170,357,695 (GRCm39) |
Q21* |
probably null |
Het |
| Pkd1l3 |
T |
C |
8: 110,357,977 (GRCm39) |
F823S |
probably damaging |
Het |
| Rnf212 |
C |
T |
5: 108,895,276 (GRCm39) |
|
probably benign |
Het |
| Sbspon |
T |
C |
1: 15,929,150 (GRCm39) |
S214G |
probably benign |
Het |
| Slc12a7 |
T |
C |
13: 73,945,822 (GRCm39) |
|
probably null |
Het |
| Ugt3a1 |
A |
T |
15: 9,370,310 (GRCm39) |
M485L |
probably benign |
Het |
| Vav1 |
T |
C |
17: 57,612,351 (GRCm39) |
V561A |
possibly damaging |
Het |
| Vldlr |
A |
G |
19: 27,218,726 (GRCm39) |
T485A |
probably benign |
Het |
| Wiz |
T |
C |
17: 32,586,834 (GRCm39) |
T159A |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation