Incidental Mutation 'R9293:Mre11a'
| ID |
704397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mre11a
|
| Ensembl Gene |
ENSMUSG00000031928 |
| Gene Name |
MRE11A homolog A, double strand break repair nuclease |
| Synonyms |
|
| MMRRC Submission |
068991-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9293 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
14695971-14748421 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14710884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 193
(F193L)
|
| 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: F193L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928
AA Change: F193L
| 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: F193L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000111295
Gene: ENSMUSG00000031928
AA Change: F193L
| 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: F193L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116321
Gene: ENSMUSG00000031928
AA Change: F193L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos
|
13 |
199 |
1.2e-22 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000119999
Gene: ENSMUSG00000031928
AA Change: F22L
| 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 |
0.4193 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
95% (54/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,771,839 (GRCm39) |
S343P |
possibly damaging |
Het |
| 4930563M21Rik |
T |
A |
9: 55,916,568 (GRCm39) |
E36D |
unknown |
Het |
| Abcc8 |
T |
G |
7: 45,756,092 (GRCm39) |
K1450T |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,361,953 (GRCm39) |
N720Y |
possibly damaging |
Het |
| BC034090 |
T |
C |
1: 155,101,518 (GRCm39) |
T249A |
probably benign |
Het |
| Brf2 |
A |
T |
8: 27,614,021 (GRCm39) |
S388R |
probably damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,944,461 (GRCm39) |
Q1437L |
probably damaging |
Het |
| Cdc42ep1 |
A |
C |
15: 78,734,025 (GRCm39) |
D375A |
probably benign |
Het |
| Cep85l |
T |
C |
10: 53,174,282 (GRCm39) |
Y487C |
probably damaging |
Het |
| Cfap299 |
C |
T |
5: 98,646,162 (GRCm39) |
A86V |
probably benign |
Het |
| Chd3 |
C |
T |
11: 69,244,027 (GRCm39) |
R1346H |
possibly damaging |
Het |
| Cltc |
T |
A |
11: 86,603,446 (GRCm39) |
R793S |
possibly damaging |
Het |
| Crat |
A |
G |
2: 30,298,214 (GRCm39) |
F162L |
probably benign |
Het |
| Cyp3a44 |
C |
A |
5: 145,711,187 (GRCm39) |
V495L |
probably benign |
Het |
| Dchs2 |
C |
T |
3: 83,189,361 (GRCm39) |
T1575I |
possibly damaging |
Het |
| Ddx60 |
A |
G |
8: 62,462,994 (GRCm39) |
T1292A |
possibly damaging |
Het |
| Dnah12 |
C |
T |
14: 26,495,016 (GRCm39) |
A109V |
probably benign |
Het |
| Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,419,297 (GRCm39) |
S546P |
|
Het |
| Hfe |
T |
C |
13: 23,890,792 (GRCm39) |
K204E |
probably benign |
Het |
| Hibch |
T |
A |
1: 52,952,986 (GRCm39) |
Y329N |
probably damaging |
Het |
| Irf9 |
T |
G |
14: 55,846,247 (GRCm39) |
I426S |
probably damaging |
Het |
| Kif26a |
C |
A |
12: 112,112,835 (GRCm39) |
P13T |
probably damaging |
Het |
| Lhx5 |
A |
C |
5: 120,570,451 (GRCm39) |
K36Q |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,707,579 (GRCm39) |
S1623P |
probably damaging |
Het |
| Mybl2 |
G |
A |
2: 162,910,135 (GRCm39) |
G187E |
probably damaging |
Het |
| Myh1 |
A |
T |
11: 67,099,929 (GRCm39) |
Q613L |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,087,312 (GRCm39) |
M1056K |
probably benign |
Het |
| Or1e16 |
T |
C |
11: 73,285,955 (GRCm39) |
K298E |
probably damaging |
Het |
| Or4a27 |
G |
A |
2: 88,559,799 (GRCm39) |
T48I |
probably benign |
Het |
| Or51ag1 |
C |
T |
7: 103,155,727 (GRCm39) |
R142H |
probably benign |
Het |
| Or8b3b |
T |
C |
9: 38,584,414 (GRCm39) |
I109V |
probably damaging |
Het |
| Pcdhga12 |
G |
A |
18: 37,900,940 (GRCm39) |
V591M |
probably damaging |
Het |
| Phyhipl |
A |
G |
10: 70,401,116 (GRCm39) |
S161P |
probably damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,263,205 (GRCm39) |
T775A |
probably benign |
Het |
| Pou3f3 |
T |
C |
1: 42,736,682 (GRCm39) |
V126A |
unknown |
Het |
| Reg4 |
A |
C |
3: 98,143,631 (GRCm39) |
K142Q |
possibly damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,021,336 (GRCm39) |
D73G |
probably damaging |
Het |
| Sec22c |
G |
T |
9: 121,517,314 (GRCm39) |
A199E |
probably damaging |
Het |
| Sema3d |
C |
T |
5: 12,603,181 (GRCm39) |
P395S |
probably damaging |
Het |
| Sh2b2 |
C |
T |
5: 136,260,893 (GRCm39) |
E108K |
possibly damaging |
Het |
| Slfn3 |
A |
G |
11: 83,105,616 (GRCm39) |
K538E |
possibly damaging |
Het |
| Spatc1l |
A |
T |
10: 76,405,200 (GRCm39) |
D194V |
probably damaging |
Het |
| Stoml3 |
T |
C |
3: 53,408,185 (GRCm39) |
V77A |
possibly damaging |
Het |
| Taco1 |
A |
G |
11: 105,963,930 (GRCm39) |
I230V |
probably benign |
Het |
| Tfcp2 |
T |
C |
15: 100,411,934 (GRCm39) |
T346A |
probably benign |
Het |
| Tmem8b |
C |
T |
4: 43,686,188 (GRCm39) |
T273M |
probably damaging |
Het |
| Trav6-1 |
A |
G |
14: 52,876,299 (GRCm39) |
N73S |
probably benign |
Het |
| Trav6d-5 |
A |
G |
14: 53,033,060 (GRCm39) |
D103G |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,937,806 (GRCm39) |
L379Q |
probably damaging |
Het |
| Ube3c |
T |
A |
5: 29,803,846 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
A |
C |
2: 69,727,769 (GRCm39) |
D44A |
probably benign |
Het |
| Upp2 |
G |
T |
2: 58,457,443 (GRCm39) |
R5L |
unknown |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r17 |
C |
T |
5: 109,600,712 (GRCm39) |
T670I |
probably damaging |
Het |
| Zfp433 |
A |
T |
10: 81,556,122 (GRCm39) |
H208L |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,974,744 (GRCm39) |
I429F |
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 |
|
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'- AGCACAGGGAGTTCCTTTATTTC -3'
(R):5'- GTGAAGGAGTCAGGCCTTTAC -3'
Sequencing Primer
(F):5'- TCCTGATTGCTAAATGGAAAGCGTG -3'
(R):5'- CTTAAAGGCCTGCGCAAATAGGTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation