Incidental Mutation 'R9302:Mre11a'
| ID |
705014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mre11a
|
| Ensembl Gene |
ENSMUSG00000031928 |
| Gene Name |
MRE11A homolog A, double strand break repair nuclease |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9302 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
14695971-14748421 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 14696826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034405]
[ENSMUST00000034406]
[ENSMUST00000115632]
[ENSMUST00000147305]
[ENSMUST00000214456]
[ENSMUST00000214979]
[ENSMUST00000215820]
[ENSMUST00000216037]
[ENSMUST00000216372]
|
| AlphaFold |
Q61216 |
| Predicted Effect |
probably null
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: ENSMUST00000034406
|
| SMART Domains |
Protein: ENSMUSP00000034406
Gene: ENSMUSG00000031931
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
60 |
N/A |
INTRINSIC |
|
ANK
|
72 |
102 |
1.02e3 |
SMART |
|
ANK
|
106 |
135 |
7.24e-7 |
SMART |
|
ANK
|
139 |
168 |
1.94e-7 |
SMART |
|
ANK
|
172 |
203 |
1.37e2 |
SMART |
|
| 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 |
|
| 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: ENSMUST00000214456
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214979
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215820
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216037
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216372
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aar2 |
T |
C |
2: 156,392,956 (GRCm39) |
L115P |
probably damaging |
Het |
| Acsl1 |
T |
A |
8: 46,983,470 (GRCm39) |
D494E |
probably damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,656,426 (GRCm39) |
V243A |
possibly damaging |
Het |
| Ak9 |
A |
T |
10: 41,196,486 (GRCm39) |
I103F |
|
Het |
| Ank3 |
C |
T |
10: 69,761,849 (GRCm39) |
|
probably benign |
Het |
| Ano4 |
T |
A |
10: 88,831,220 (GRCm39) |
I468L |
probably benign |
Het |
| Anxa2r1 |
A |
G |
13: 120,496,626 (GRCm39) |
I81T |
probably benign |
Het |
| Arhgef10l |
G |
A |
4: 140,242,548 (GRCm39) |
S959L |
probably benign |
Het |
| Cdh23 |
G |
A |
10: 60,143,306 (GRCm39) |
A3005V |
possibly damaging |
Het |
| Cfap221 |
T |
C |
1: 119,853,365 (GRCm39) |
I776M |
probably benign |
Het |
| Col3a1 |
C |
T |
1: 45,350,980 (GRCm39) |
Q25* |
probably null |
Het |
| Crabp2 |
C |
A |
3: 87,859,833 (GRCm39) |
L100I |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,240,032 (GRCm39) |
D463G |
probably benign |
Het |
| Dst |
T |
C |
1: 34,264,636 (GRCm39) |
L2602P |
probably damaging |
Het |
| Dusp1 |
A |
G |
17: 26,726,148 (GRCm39) |
Y182H |
probably damaging |
Het |
| Fhip1a |
C |
A |
3: 85,579,941 (GRCm39) |
D755Y |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,682,751 (GRCm39) |
C83S |
probably damaging |
Het |
| Frrs1 |
G |
T |
3: 116,692,899 (GRCm39) |
|
probably null |
Het |
| Gcnt3 |
A |
G |
9: 69,942,529 (GRCm39) |
L13P |
possibly damaging |
Het |
| Gm8094 |
T |
C |
14: 42,932,834 (GRCm39) |
D88G |
probably benign |
Het |
| Hfe |
C |
T |
13: 23,890,025 (GRCm39) |
M249I |
probably benign |
Het |
| Hipk1 |
T |
C |
3: 103,685,099 (GRCm39) |
E172G |
probably benign |
Het |
| Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
| Ltb4r2 |
A |
T |
14: 55,999,733 (GRCm39) |
Q118L |
probably damaging |
Het |
| Ltbp4 |
A |
T |
7: 27,008,481 (GRCm39) |
C1342S |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,904,947 (GRCm39) |
D3208G |
possibly damaging |
Het |
| Mbnl2 |
A |
G |
14: 120,622,950 (GRCm39) |
T163A |
probably benign |
Het |
| Myo15b |
A |
G |
11: 115,776,238 (GRCm39) |
N610D |
possibly damaging |
Het |
| Nt5c1b |
T |
C |
12: 10,430,882 (GRCm39) |
S390P |
probably damaging |
Het |
| Or10ag53 |
T |
A |
2: 87,082,906 (GRCm39) |
F208L |
probably benign |
Het |
| Pde3b |
A |
G |
7: 114,122,621 (GRCm39) |
T730A |
probably damaging |
Het |
| Pdzd2 |
G |
T |
15: 12,374,342 (GRCm39) |
T1931N |
possibly damaging |
Het |
| Pla2g15 |
C |
T |
8: 106,877,201 (GRCm39) |
A28V |
probably benign |
Het |
| Pmfbp1 |
A |
T |
8: 110,268,474 (GRCm39) |
D1007V |
probably damaging |
Het |
| Polr1a |
T |
A |
6: 71,901,683 (GRCm39) |
|
probably null |
Het |
| Ppp1r3a |
T |
C |
6: 14,721,891 (GRCm39) |
K312E |
probably benign |
Het |
| Prmt5 |
G |
A |
14: 54,749,583 (GRCm39) |
T269I |
probably benign |
Het |
| Pwp2 |
A |
G |
10: 78,009,540 (GRCm39) |
S793P |
probably benign |
Het |
| Rbm12b1 |
C |
A |
4: 12,146,181 (GRCm39) |
H718N |
probably benign |
Het |
| Rfx1 |
T |
A |
8: 84,817,662 (GRCm39) |
M512K |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,416,789 (GRCm39) |
E1441G |
probably damaging |
Het |
| Slc16a6 |
C |
T |
11: 109,350,634 (GRCm39) |
V207I |
probably benign |
Het |
| Slc6a9 |
G |
A |
4: 117,706,596 (GRCm39) |
R7H |
possibly damaging |
Het |
| Sptlc1 |
A |
T |
13: 53,528,047 (GRCm39) |
V39D |
probably benign |
Het |
| Strc |
A |
T |
2: 121,211,336 (GRCm39) |
L3Q |
unknown |
Het |
| Svep1 |
C |
T |
4: 58,120,565 (GRCm39) |
E823K |
possibly damaging |
Het |
| Tat |
A |
G |
8: 110,725,031 (GRCm39) |
|
probably benign |
Het |
| Thoc1 |
T |
A |
18: 9,968,800 (GRCm39) |
N190K |
possibly damaging |
Het |
| Tomt |
T |
C |
7: 101,549,826 (GRCm39) |
E154G |
probably damaging |
Het |
| Topaz1 |
T |
A |
9: 122,617,887 (GRCm39) |
V1228E |
possibly damaging |
Het |
| Trim55 |
G |
A |
3: 19,727,153 (GRCm39) |
V407M |
probably benign |
Het |
| Ttll5 |
T |
A |
12: 85,873,338 (GRCm39) |
M5K |
possibly damaging |
Het |
| Ugt2a2 |
A |
C |
5: 87,609,940 (GRCm39) |
Y380* |
probably null |
Het |
| Usp46 |
A |
G |
5: 74,163,922 (GRCm39) |
Y272H |
probably benign |
Het |
| Vps39 |
A |
T |
2: 120,151,525 (GRCm39) |
|
probably benign |
Het |
| Zfp12 |
T |
A |
5: 143,230,421 (GRCm39) |
H281Q |
probably damaging |
Het |
| Zfp142 |
C |
A |
1: 74,606,302 (GRCm39) |
R1756L |
probably damaging |
Het |
| Zmynd10 |
T |
A |
9: 107,426,516 (GRCm39) |
I183K |
possibly 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 |
|
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 |
|
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'- TCAAAATCACTAGCGCTTGTTC -3'
(R):5'- TGCATGGCCATGTAATTACTGC -3'
Sequencing Primer
(F):5'- GCGCTTGTTCAAAAAGTCTACC -3'
(R):5'- TGGCCATGTAATTACTGCAACAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation