Incidental Mutation 'IGL00429:Mre11a'
| ID |
4936 |
| 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 # |
IGL00429
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
14695971-14748421 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14714109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 237
(F237L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111295
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034405]
[ENSMUST00000115632]
[ENSMUST00000147305]
|
| AlphaFold |
Q61216 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034405
AA Change: F237L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928
AA Change: F237L
| 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: F237L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111295
Gene: ENSMUSG00000031928
AA Change: F237L
| 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 |
noncoding transcript
Transcript: ENSMUST00000136568
|
| SMART Domains |
Protein: ENSMUSP00000121012
Gene: ENSMUSG00000031928
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3T1I|D
|
1 |
107 |
1e-70 |
PDB |
|
SCOP:d1ii7a_
|
3 |
107 |
7e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147305
|
| SMART Domains |
Protein: ENSMUSP00000116321
Gene: ENSMUSG00000031928
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos
|
13 |
199 |
1.2e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147676
|
| SMART Domains |
Protein: ENSMUSP00000119999
Gene: ENSMUSG00000031928
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009J07Rik |
G |
A |
10: 77,729,673 (GRCm39) |
|
probably benign |
Het |
| 4933411K16Rik |
T |
C |
19: 42,040,983 (GRCm39) |
L38P |
probably damaging |
Het |
| Abca1 |
A |
G |
4: 53,059,255 (GRCm39) |
|
probably null |
Het |
| Abca15 |
T |
A |
7: 119,996,277 (GRCm39) |
I1401N |
probably damaging |
Het |
| Adam3 |
A |
C |
8: 25,184,294 (GRCm39) |
Y569D |
probably damaging |
Het |
| Ap2a1 |
T |
C |
7: 44,555,192 (GRCm39) |
S458G |
probably damaging |
Het |
| Asxl3 |
C |
T |
18: 22,658,280 (GRCm39) |
P2097S |
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,504,145 (GRCm39) |
D607G |
probably benign |
Het |
| Ccdc158 |
C |
A |
5: 92,805,740 (GRCm39) |
M338I |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,256,920 (GRCm39) |
S735P |
probably damaging |
Het |
| Cdh9 |
T |
C |
15: 16,828,448 (GRCm39) |
V180A |
probably damaging |
Het |
| Cyp4a31 |
A |
T |
4: 115,432,171 (GRCm39) |
|
probably benign |
Het |
| Dus4l |
A |
G |
12: 31,691,668 (GRCm39) |
V180A |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,166,826 (GRCm39) |
T1672S |
probably damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,340 (GRCm39) |
L141Q |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,127,597 (GRCm39) |
E313G |
probably damaging |
Het |
| Gm4884 |
A |
G |
7: 40,693,809 (GRCm39) |
T593A |
probably benign |
Het |
| H2bc14 |
T |
C |
13: 21,906,310 (GRCm39) |
S15P |
possibly damaging |
Het |
| Il18r1 |
G |
A |
1: 40,537,812 (GRCm39) |
E526K |
possibly damaging |
Het |
| Lama4 |
A |
T |
10: 38,887,022 (GRCm39) |
H109L |
possibly damaging |
Het |
| Mab21l1 |
A |
C |
3: 55,690,557 (GRCm39) |
Q48P |
probably damaging |
Het |
| Magi3 |
T |
A |
3: 103,922,294 (GRCm39) |
K1474N |
probably damaging |
Het |
| Mst1r |
A |
T |
9: 107,790,449 (GRCm39) |
|
probably benign |
Het |
| Mtcl2 |
A |
C |
2: 156,872,784 (GRCm39) |
F909C |
probably damaging |
Het |
| Myh2 |
C |
T |
11: 67,071,616 (GRCm39) |
Q478* |
probably null |
Het |
| Mylip |
C |
A |
13: 45,562,043 (GRCm39) |
P282T |
probably benign |
Het |
| Mymk |
T |
C |
2: 26,952,799 (GRCm39) |
Y103C |
probably damaging |
Het |
| Necab1 |
A |
T |
4: 15,052,656 (GRCm39) |
N107K |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,730,753 (GRCm39) |
|
probably benign |
Het |
| Phgdh |
T |
C |
3: 98,235,631 (GRCm39) |
K129E |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,139,026 (GRCm39) |
Y1714C |
probably damaging |
Het |
| Pm20d2 |
A |
G |
4: 33,187,205 (GRCm39) |
|
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,296,801 (GRCm39) |
T172A |
probably benign |
Het |
| Prkca |
T |
C |
11: 108,234,334 (GRCm39) |
T54A |
probably benign |
Het |
| Prlr |
A |
G |
15: 10,328,410 (GRCm39) |
D295G |
probably benign |
Het |
| Rdh12 |
A |
G |
12: 79,258,176 (GRCm39) |
I68V |
probably benign |
Het |
| Slc14a2 |
A |
G |
18: 78,193,653 (GRCm39) |
F850L |
possibly damaging |
Het |
| Smad2 |
A |
T |
18: 76,431,566 (GRCm39) |
S185C |
possibly damaging |
Het |
| Trav13n-4 |
T |
A |
14: 53,601,288 (GRCm39) |
L19Q |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,132,311 (GRCm39) |
C844* |
probably null |
Het |
| Vwce |
T |
A |
19: 10,641,875 (GRCm39) |
|
probably null |
Het |
| Wdr95 |
T |
C |
5: 149,518,709 (GRCm39) |
|
probably benign |
Het |
| Zfp143 |
T |
C |
7: 109,690,979 (GRCm39) |
I510T |
probably damaging |
Het |
| Zfp930 |
G |
T |
8: 69,680,634 (GRCm39) |
K90N |
probably 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 |
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation