Incidental Mutation 'R2030:Mre11a'
| ID |
221150 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mre11a
|
| Ensembl Gene |
ENSMUSG00000031928 |
| Gene Name |
MRE11A homolog A, double strand break repair nuclease |
| Synonyms |
|
| MMRRC Submission |
040037-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2030 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
14695971-14748421 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14707101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 117
(N117Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034405]
[ENSMUST00000115632]
[ENSMUST00000147305]
|
| AlphaFold |
Q61216 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034405
AA Change: N117Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928
AA Change: N117Y
| 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: N117Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111295
Gene: ENSMUSG00000031928
AA Change: N117Y
| 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 damaging
Transcript: ENSMUST00000147305
AA Change: N117Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116321
Gene: ENSMUSG00000031928
AA Change: N117Y
| 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 |
|
| Meta Mutation Damage Score |
0.9589 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (54/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adtrp |
C |
T |
13: 41,981,735 (GRCm39) |
V13I |
probably damaging |
Het |
| Ak2 |
A |
G |
4: 128,902,013 (GRCm39) |
K229E |
probably benign |
Het |
| Atp13a4 |
A |
T |
16: 29,241,502 (GRCm39) |
V741D |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,197,697 (GRCm39) |
M896K |
probably benign |
Het |
| Ccser1 |
C |
T |
6: 61,288,547 (GRCm39) |
R237C |
probably benign |
Het |
| Cdk7 |
A |
G |
13: 100,859,182 (GRCm39) |
|
probably benign |
Het |
| CK137956 |
A |
G |
4: 127,845,180 (GRCm39) |
S188P |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dbndd2 |
A |
G |
2: 164,330,563 (GRCm39) |
D72G |
probably damaging |
Het |
| Disp3 |
A |
T |
4: 148,344,423 (GRCm39) |
I493N |
probably damaging |
Het |
| Dnaaf10 |
A |
T |
11: 17,179,832 (GRCm39) |
T278S |
probably benign |
Het |
| Epx |
T |
C |
11: 87,755,650 (GRCm39) |
D678G |
probably damaging |
Het |
| Fbxw5 |
G |
T |
2: 25,394,810 (GRCm39) |
V235L |
probably damaging |
Het |
| Fmo4 |
T |
A |
1: 162,621,741 (GRCm39) |
D490V |
probably damaging |
Het |
| Fuca2 |
A |
G |
10: 13,382,518 (GRCm39) |
Y268C |
probably damaging |
Het |
| Gm4787 |
C |
T |
12: 81,425,544 (GRCm39) |
V205I |
probably damaging |
Het |
| Gpat3 |
G |
A |
5: 101,045,687 (GRCm39) |
R437K |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,834,121 (GRCm39) |
S3109G |
probably damaging |
Het |
| Hr |
G |
A |
14: 70,808,888 (GRCm39) |
R1117H |
probably damaging |
Het |
| Htra4 |
T |
A |
8: 25,523,593 (GRCm39) |
D324V |
probably damaging |
Het |
| Kcnd3 |
A |
G |
3: 105,366,853 (GRCm39) |
Y241C |
probably damaging |
Het |
| Kcp |
G |
A |
6: 29,489,071 (GRCm39) |
L1072F |
probably damaging |
Het |
| Lrrc52 |
T |
C |
1: 167,294,028 (GRCm39) |
N86D |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,188,247 (GRCm39) |
T26A |
probably damaging |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,076 (GRCm39) |
S279T |
possibly damaging |
Het |
| Myh13 |
T |
G |
11: 67,241,064 (GRCm39) |
S814A |
probably benign |
Het |
| Ncapd2 |
A |
G |
6: 125,153,678 (GRCm39) |
V679A |
possibly damaging |
Het |
| Nipbl |
A |
T |
15: 8,379,771 (GRCm39) |
V1007D |
probably damaging |
Het |
| Nlrp12 |
T |
A |
7: 3,277,049 (GRCm39) |
H960L |
probably damaging |
Het |
| Or3a1c |
T |
A |
11: 74,046,769 (GRCm39) |
M263K |
possibly damaging |
Het |
| Or4a72 |
C |
T |
2: 89,405,558 (GRCm39) |
V171I |
probably benign |
Het |
| Or7e169 |
A |
G |
9: 19,757,709 (GRCm39) |
S69P |
probably benign |
Het |
| Pklr |
A |
G |
3: 89,050,545 (GRCm39) |
Y402C |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,859,334 (GRCm39) |
T1319A |
possibly damaging |
Het |
| Rif1 |
T |
A |
2: 51,982,358 (GRCm39) |
V541E |
probably damaging |
Het |
| Ryk |
T |
A |
9: 102,758,855 (GRCm39) |
I248N |
possibly damaging |
Het |
| Shisa2 |
A |
T |
14: 59,867,134 (GRCm39) |
I129F |
probably damaging |
Het |
| Snap25 |
T |
G |
2: 136,611,973 (GRCm39) |
|
probably benign |
Het |
| Snx31 |
G |
A |
15: 36,525,848 (GRCm39) |
P284S |
probably benign |
Het |
| Spata31g1 |
C |
T |
4: 42,974,131 (GRCm39) |
Q1155* |
probably null |
Het |
| Tas2r140 |
A |
G |
6: 40,469,154 (GRCm39) |
K328R |
possibly damaging |
Het |
| Tas2r140 |
T |
C |
6: 133,032,213 (GRCm39) |
T182A |
probably benign |
Het |
| Thumpd2 |
G |
A |
17: 81,372,387 (GRCm39) |
R35C |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,937,443 (GRCm39) |
N3811Y |
probably damaging |
Het |
| Tpte |
A |
C |
8: 22,835,901 (GRCm39) |
N428T |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,831,629 (GRCm39) |
D1498G |
probably benign |
Het |
| Tsc2 |
C |
T |
17: 24,842,444 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,703,277 (GRCm39) |
|
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,045,017 (GRCm39) |
I251V |
probably benign |
Het |
| Zc3h6 |
T |
C |
2: 128,848,006 (GRCm39) |
Y278H |
probably damaging |
Het |
| Zfat |
A |
G |
15: 67,990,783 (GRCm39) |
|
probably null |
Het |
| Zfp442 |
A |
T |
2: 150,250,042 (GRCm39) |
V620E |
possibly damaging |
Het |
| Zfp788 |
A |
G |
7: 41,298,984 (GRCm39) |
H540R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAGTTTATTTCCAGCACTGAGC -3'
(R):5'- GCATGGCTCTCTCATGTAACAATTC -3'
Sequencing Primer
(F):5'- CACTGAGCTGGGGTTGTC -3'
(R):5'- GGTAGATGCATTGTACTGATA -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation