Incidental Mutation 'IGL01871:Mre11a'
| ID |
178702 |
| 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 # |
IGL01871
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
14695971-14748421 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14723193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 389
(V389A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034405]
[ENSMUST00000115632]
|
| AlphaFold |
Q61216 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034405
AA Change: V389A
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928
AA Change: V389A
| 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 |
possibly damaging
Transcript: ENSMUST00000115632
AA Change: V362A
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111295
Gene: ENSMUSG00000031928
AA Change: V362A
| 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: V156A
|
| SMART Domains |
Protein: ENSMUSP00000119999
Gene: ENSMUSG00000031928
AA Change: V156A
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,620,513 (GRCm39) |
|
probably null |
Het |
| Aqp7 |
G |
A |
4: 41,045,321 (GRCm39) |
R20* |
probably null |
Het |
| Asxl2 |
G |
T |
12: 3,552,112 (GRCm39) |
V1285L |
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,202,561 (GRCm39) |
S688T |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,846,311 (GRCm39) |
I357F |
probably damaging |
Het |
| Clasp1 |
A |
T |
1: 118,498,619 (GRCm39) |
I884F |
probably damaging |
Het |
| Cpne4 |
T |
G |
9: 104,802,956 (GRCm39) |
M200R |
possibly damaging |
Het |
| Cyp2d10 |
T |
A |
15: 82,288,086 (GRCm39) |
D180V |
probably damaging |
Het |
| Dicer1 |
A |
T |
12: 104,670,439 (GRCm39) |
V1042D |
probably damaging |
Het |
| Dlc1 |
G |
A |
8: 37,317,334 (GRCm39) |
T447I |
probably damaging |
Het |
| Efl1 |
T |
C |
7: 82,412,527 (GRCm39) |
M972T |
possibly damaging |
Het |
| Erbin |
A |
G |
13: 103,971,274 (GRCm39) |
S781P |
probably damaging |
Het |
| Galnt4 |
G |
A |
10: 98,945,103 (GRCm39) |
G276D |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gmppa |
A |
G |
1: 75,413,661 (GRCm39) |
I41V |
probably damaging |
Het |
| Golga1 |
C |
T |
2: 38,940,210 (GRCm39) |
|
probably benign |
Het |
| H2-Ob |
G |
T |
17: 34,461,519 (GRCm39) |
W86L |
probably damaging |
Het |
| Hnrnpr |
G |
A |
4: 136,066,885 (GRCm39) |
R482H |
unknown |
Het |
| L2hgdh |
T |
C |
12: 69,768,869 (GRCm39) |
E81G |
probably damaging |
Het |
| Mxra8 |
A |
G |
4: 155,927,258 (GRCm39) |
T372A |
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,845,923 (GRCm39) |
S593R |
probably benign |
Het |
| Ndufaf1 |
C |
T |
2: 119,488,768 (GRCm39) |
W250* |
probably null |
Het |
| Neb |
T |
C |
2: 52,043,081 (GRCm39) |
E6783G |
probably damaging |
Het |
| Nmt2 |
T |
C |
2: 3,313,711 (GRCm39) |
Y175H |
probably damaging |
Het |
| Olfml2b |
T |
C |
1: 170,489,924 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
T |
A |
11: 71,946,964 (GRCm39) |
M812L |
probably damaging |
Het |
| Pou2f3 |
A |
G |
9: 43,045,768 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,600,951 (GRCm39) |
T2871A |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 72,028,704 (GRCm39) |
T392A |
possibly damaging |
Het |
| Rhov |
G |
T |
2: 119,101,219 (GRCm39) |
Q71K |
probably benign |
Het |
| Slc22a15 |
T |
C |
3: 101,768,110 (GRCm39) |
|
probably benign |
Het |
| Spaca1 |
T |
A |
4: 34,040,894 (GRCm39) |
N22Y |
probably damaging |
Het |
| Stmnd1 |
A |
G |
13: 46,443,189 (GRCm39) |
E107G |
probably damaging |
Het |
| Tent5b |
A |
G |
4: 133,213,620 (GRCm39) |
I164V |
possibly damaging |
Het |
| Timm22 |
T |
C |
11: 76,298,263 (GRCm39) |
V78A |
probably damaging |
Het |
| Usp47 |
T |
C |
7: 111,676,993 (GRCm39) |
|
probably benign |
Het |
| Utp4 |
A |
C |
8: 107,638,949 (GRCm39) |
K419T |
probably benign |
Het |
| Zfp410 |
T |
C |
12: 84,372,565 (GRCm39) |
|
probably null |
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 |
|
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 |
2014-05-07 |
Incidental Mutation