Incidental Mutation 'R7744:Mre11a'
| ID |
596740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mre11a
|
| Ensembl Gene |
ENSMUSG00000031928 |
| Gene Name |
MRE11A homolog A, double strand break repair nuclease |
| Synonyms |
|
| MMRRC Submission |
045800-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7744 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
14695971-14748421 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 14721128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 349
(R349Q)
|
| 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: R349Q
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928
AA Change: R349Q
| 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: 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 |
|
| SMART Domains |
Protein: ENSMUSP00000119999
Gene: ENSMUSG00000031928
AA Change: R116Q
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3T1I|D
|
2 |
50 |
3e-26 |
PDB |
|
Mre11_DNA_bind
|
62 |
170 |
1.81e-32 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (55/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,240,421 (GRCm39) |
N761K |
possibly damaging |
Het |
| Abi2 |
A |
G |
1: 60,476,362 (GRCm39) |
I145V |
probably benign |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Atf7ip2 |
T |
A |
16: 10,059,522 (GRCm39) |
V354E |
possibly damaging |
Het |
| Bglap |
T |
C |
3: 88,290,958 (GRCm39) |
Y91C |
probably damaging |
Het |
| Cacna1e |
A |
T |
1: 154,341,538 (GRCm39) |
S1219T |
probably damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cd177 |
A |
G |
7: 24,449,800 (GRCm39) |
C562R |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Chd7 |
T |
A |
4: 8,862,485 (GRCm39) |
|
probably null |
Het |
| Dyrk3 |
A |
G |
1: 131,057,543 (GRCm39) |
V210A |
probably damaging |
Het |
| Eif3c |
C |
A |
7: 126,158,066 (GRCm39) |
G297W |
probably damaging |
Het |
| Eml1 |
A |
G |
12: 108,482,863 (GRCm39) |
H494R |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,764,629 (GRCm39) |
|
probably null |
Het |
| Fbxw21 |
C |
A |
9: 108,986,720 (GRCm39) |
C53F |
possibly damaging |
Het |
| Fndc3a |
C |
A |
14: 72,799,156 (GRCm39) |
G609V |
possibly damaging |
Het |
| Grid1 |
A |
G |
14: 35,172,036 (GRCm39) |
D514G |
probably damaging |
Het |
| Gxylt2 |
T |
C |
6: 100,760,278 (GRCm39) |
V271A |
probably damaging |
Het |
| Hes1 |
A |
G |
16: 29,884,997 (GRCm39) |
K74R |
probably damaging |
Het |
| Igsf9 |
A |
G |
1: 172,319,752 (GRCm39) |
N349S |
probably benign |
Het |
| Isx |
T |
A |
8: 75,600,285 (GRCm39) |
I6N |
possibly damaging |
Het |
| Kcnb1 |
A |
T |
2: 167,030,251 (GRCm39) |
F98Y |
probably damaging |
Het |
| Kif1b |
G |
C |
4: 149,321,532 (GRCm39) |
T1129R |
possibly damaging |
Het |
| Klra10 |
T |
A |
6: 130,249,724 (GRCm39) |
|
probably null |
Het |
| Mcm10 |
A |
T |
2: 4,996,253 (GRCm39) |
L870Q |
probably damaging |
Het |
| Mettl16 |
T |
A |
11: 74,693,829 (GRCm39) |
I280K |
probably benign |
Het |
| Mrpl10 |
C |
T |
11: 96,935,402 (GRCm39) |
T34I |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,496,392 (GRCm39) |
|
probably null |
Het |
| Myt1l |
T |
C |
12: 29,877,548 (GRCm39) |
C400R |
unknown |
Het |
| Nbr1 |
C |
T |
11: 101,460,210 (GRCm39) |
T402M |
probably damaging |
Het |
| Ndufs1 |
A |
G |
1: 63,200,099 (GRCm39) |
M271T |
possibly damaging |
Het |
| Or10q1 |
A |
G |
19: 13,727,419 (GRCm39) |
*316W |
probably null |
Het |
| Or4c29 |
C |
T |
2: 88,740,003 (GRCm39) |
V245I |
possibly damaging |
Het |
| Or51f23c-ps1 |
G |
T |
7: 102,431,597 (GRCm39) |
V305L |
probably benign |
Het |
| Pakap |
T |
C |
4: 57,709,519 (GRCm39) |
S155P |
probably damaging |
Het |
| Pced1a |
C |
T |
2: 130,263,972 (GRCm39) |
D227N |
probably damaging |
Het |
| Phf21b |
A |
G |
15: 84,689,070 (GRCm39) |
I152T |
probably damaging |
Het |
| Pla2g4a |
A |
G |
1: 149,736,853 (GRCm39) |
V430A |
probably benign |
Het |
| Plbd1 |
T |
C |
6: 136,594,244 (GRCm39) |
E335G |
probably benign |
Het |
| Plce1 |
G |
A |
19: 38,608,899 (GRCm39) |
V403M |
possibly damaging |
Het |
| Pnpla6 |
T |
A |
8: 3,581,677 (GRCm39) |
N642K |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,113,389 (GRCm39) |
I123T |
probably benign |
Het |
| Rab3il1 |
T |
A |
19: 10,005,641 (GRCm39) |
|
probably null |
Het |
| Ranbp3 |
C |
T |
17: 57,015,219 (GRCm39) |
T307M |
possibly damaging |
Het |
| Rasgrp2 |
T |
C |
19: 6,455,031 (GRCm39) |
S254P |
probably damaging |
Het |
| Rgl3 |
T |
C |
9: 21,898,866 (GRCm39) |
K191R |
probably benign |
Het |
| Rnf223 |
G |
A |
4: 156,216,982 (GRCm39) |
R119H |
probably benign |
Het |
| Sapcd2 |
C |
T |
2: 25,263,508 (GRCm39) |
P217S |
unknown |
Het |
| Setd7 |
C |
T |
3: 51,434,261 (GRCm39) |
|
probably null |
Het |
| Sh3bp1 |
A |
C |
15: 78,794,209 (GRCm39) |
T526P |
possibly damaging |
Het |
| Slc17a4 |
C |
A |
13: 24,085,767 (GRCm39) |
W382L |
probably benign |
Het |
| Slc26a3 |
A |
T |
12: 31,513,464 (GRCm39) |
|
probably null |
Het |
| Tmem129 |
A |
G |
5: 33,811,732 (GRCm39) |
L356P |
probably damaging |
Het |
| Trib1 |
T |
A |
15: 59,526,512 (GRCm39) |
Y361N |
probably benign |
Het |
| Xirp1 |
T |
A |
9: 119,845,912 (GRCm39) |
R990S |
possibly damaging |
Het |
| Zfp950 |
A |
C |
19: 61,116,010 (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 |
|
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 |
|
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'- ACTGTTAAGGGACGAGGTTG -3'
(R):5'- GTTCACCTGAGATTAGACCAAGCC -3'
Sequencing Primer
(F):5'- TGGTAGGGCCACAAGCTTTAAATG -3'
(R):5'- TGAGATTAGACCAAGCCCACAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation