Incidental Mutation 'R6393:Mre11a'
| ID |
515883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mre11a
|
| Ensembl Gene |
ENSMUSG00000031928 |
| Gene Name |
MRE11A homolog A, double strand break repair nuclease |
| Synonyms |
|
| MMRRC Submission |
044542-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6393 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
14784654-14837123 bp(+) (GRCm38) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to G
at 14785509 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149184
(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
AA Change: M1V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928
AA Change: M1V
| 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 null
Transcript: ENSMUST00000115632
AA Change: M1V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000111295
Gene: ENSMUSG00000031928
AA Change: M1V
| 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 null
Transcript: ENSMUST00000147305
AA Change: M1V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000116321
Gene: ENSMUSG00000031928
AA Change: M1V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos
|
13 |
199 |
1.2e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214456
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214882
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214979
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000215820
AA Change: M1V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216037
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216372
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.8%
|
| Validation Efficiency |
99% (70/71) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
G |
1: 193,174,382 (GRCm38) |
Q14R |
possibly damaging |
Het |
| Adamts12 |
A |
G |
15: 11,255,635 (GRCm38) |
D430G |
probably damaging |
Het |
| Agxt2 |
T |
C |
15: 10,393,808 (GRCm38) |
|
probably null |
Het |
| Akirin1 |
T |
G |
4: 123,743,531 (GRCm38) |
Q87P |
possibly damaging |
Het |
| Ank2 |
G |
A |
3: 126,929,757 (GRCm38) |
R974C |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,463,672 (GRCm38) |
I804V |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 97,994,019 (GRCm38) |
L437Q |
possibly damaging |
Het |
| Atp8a2 |
G |
T |
14: 59,773,755 (GRCm38) |
Y967* |
probably null |
Het |
| Calcr |
A |
G |
6: 3,708,586 (GRCm38) |
L200S |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 45,096,465 (GRCm38) |
V528D |
possibly damaging |
Het |
| Chd6 |
A |
G |
2: 160,979,487 (GRCm38) |
Y1296H |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,325,081 (GRCm38) |
R28C |
possibly damaging |
Het |
| Clrn1 |
A |
G |
3: 58,846,320 (GRCm38) |
F207L |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,655,485 (GRCm38) |
T1772A |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,355,680 (GRCm38) |
T1744A |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,129,911 (GRCm38) |
E655G |
probably damaging |
Het |
| Dnajb3 |
T |
A |
1: 88,205,662 (GRCm38) |
E6V |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 67,822,602 (GRCm38) |
P463S |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,578,413 (GRCm38) |
C1128S |
probably benign |
Het |
| Fcrl5 |
G |
A |
3: 87,448,327 (GRCm38) |
G449E |
probably damaging |
Het |
| Frem2 |
G |
T |
3: 53,585,640 (GRCm38) |
N1818K |
possibly damaging |
Het |
| Gm21149 |
C |
A |
5: 15,473,039 (GRCm38) |
V187L |
possibly damaging |
Het |
| Gm8994 |
A |
G |
6: 136,328,598 (GRCm38) |
K19R |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,431,918 (GRCm38) |
G294R |
possibly damaging |
Het |
| Gstm7 |
A |
G |
3: 107,930,826 (GRCm38) |
|
probably null |
Het |
| Htr1b |
T |
A |
9: 81,631,757 (GRCm38) |
I266F |
probably benign |
Het |
| Jakmip3 |
T |
C |
7: 139,019,171 (GRCm38) |
I305T |
probably damaging |
Het |
| Kif13a |
C |
T |
13: 46,752,455 (GRCm38) |
V671M |
possibly damaging |
Het |
| Kifc5b |
T |
C |
17: 26,921,842 (GRCm38) |
C97R |
probably benign |
Het |
| Klhl30 |
A |
T |
1: 91,361,190 (GRCm38) |
H557L |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,479,756 (GRCm38) |
V1199A |
probably benign |
Het |
| Lmbr1 |
A |
G |
5: 29,254,294 (GRCm38) |
L246P |
probably damaging |
Het |
| M6pr |
T |
C |
6: 122,315,380 (GRCm38) |
L178P |
possibly damaging |
Het |
| Med17 |
A |
G |
9: 15,274,583 (GRCm38) |
S212P |
probably damaging |
Het |
| Med23 |
T |
A |
10: 24,873,476 (GRCm38) |
S31T |
possibly damaging |
Het |
| Morc2b |
T |
G |
17: 33,137,776 (GRCm38) |
T341P |
probably damaging |
Het |
| Mrpl17 |
T |
C |
7: 105,809,915 (GRCm38) |
H158R |
probably benign |
Het |
| Mstn |
A |
G |
1: 53,066,489 (GRCm38) |
Q330R |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,647,399 (GRCm38) |
K2533* |
probably null |
Het |
| N4bp2 |
T |
C |
5: 65,791,001 (GRCm38) |
S325P |
possibly damaging |
Het |
| Nadk |
A |
G |
4: 155,589,351 (GRCm38) |
Y399C |
possibly damaging |
Het |
| Nbea |
A |
C |
3: 56,091,119 (GRCm38) |
L89R |
probably damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,278,181 (GRCm38) |
F775L |
probably benign |
Het |
| Ndufa11 |
C |
A |
17: 56,721,331 (GRCm38) |
A70E |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 40,976,851 (GRCm38) |
Y175C |
possibly damaging |
Het |
| Olfr1121 |
A |
G |
2: 87,371,565 (GRCm38) |
N11S |
probably damaging |
Het |
| Olfr1419 |
A |
T |
19: 11,870,727 (GRCm38) |
L163Q |
probably damaging |
Het |
| Pcsk6 |
T |
C |
7: 65,969,014 (GRCm38) |
S443P |
probably damaging |
Het |
| Pcsk9 |
T |
C |
4: 106,447,596 (GRCm38) |
D425G |
probably benign |
Het |
| Pdcd1lg2 |
T |
A |
19: 29,437,298 (GRCm38) |
C42S |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm38) |
|
probably benign |
Het |
| Rbm46 |
G |
A |
3: 82,863,955 (GRCm38) |
T451M |
probably benign |
Het |
| Rcan2 |
T |
A |
17: 43,953,479 (GRCm38) |
V10D |
probably benign |
Het |
| Rpl7l1 |
T |
C |
17: 46,782,622 (GRCm38) |
E4G |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,397,199 (GRCm38) |
E613G |
probably benign |
Het |
| Sbk2 |
T |
C |
7: 4,957,622 (GRCm38) |
D183G |
probably damaging |
Het |
| Slc15a4 |
C |
T |
5: 127,616,886 (GRCm38) |
A162T |
probably benign |
Het |
| Slc30a4 |
A |
G |
2: 122,686,046 (GRCm38) |
W315R |
probably damaging |
Het |
| Slc39a14 |
G |
C |
14: 70,309,813 (GRCm38) |
F361L |
probably benign |
Het |
| Slc6a13 |
T |
C |
6: 121,336,842 (GRCm38) |
Y515H |
possibly damaging |
Het |
| Slitrk3 |
C |
A |
3: 73,049,914 (GRCm38) |
K508N |
possibly damaging |
Het |
| Stard4 |
T |
C |
18: 33,205,225 (GRCm38) |
D144G |
probably benign |
Het |
| Tlr9 |
T |
C |
9: 106,224,937 (GRCm38) |
F476L |
probably damaging |
Het |
| Tshz1 |
A |
T |
18: 84,013,220 (GRCm38) |
V1021D |
probably damaging |
Het |
| Vmn1r54 |
A |
T |
6: 90,269,322 (GRCm38) |
I73F |
probably benign |
Het |
| Vmn2r19 |
A |
C |
6: 123,316,153 (GRCm38) |
S385R |
possibly damaging |
Het |
| Xkr5 |
A |
G |
8: 18,948,700 (GRCm38) |
L34P |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,638,313 (GRCm38) |
V121A |
probably damaging |
Het |
| Zbtb40 |
T |
A |
4: 136,984,866 (GRCm38) |
H268L |
probably null |
Het |
| Zfp865 |
T |
C |
7: 5,030,066 (GRCm38) |
F350S |
probably damaging |
Het |
| Zscan4b |
T |
C |
7: 10,900,901 (GRCm38) |
I472V |
possibly damaging |
Het |
|
| Other mutations in Mre11a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00156:Mre11a
|
APN |
9 |
14,825,208 (GRCm38) |
missense |
probably benign |
0.28 |
|
IGL00429:Mre11a
|
APN |
9 |
14,802,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00922:Mre11a
|
APN |
9 |
14,799,588 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01095:Mre11a
|
APN |
9 |
14,809,824 (GRCm38) |
missense |
probably benign |
|
|
IGL01294:Mre11a
|
APN |
9 |
14,830,915 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01871:Mre11a
|
APN |
9 |
14,811,897 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02194:Mre11a
|
APN |
9 |
14,815,209 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL02213:Mre11a
|
APN |
9 |
14,811,884 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02245:Mre11a
|
APN |
9 |
14,815,276 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02749:Mre11a
|
APN |
9 |
14,826,591 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
IGL02812:Mre11a
|
APN |
9 |
14,790,670 (GRCm38) |
splice site |
probably null |
|
|
bow
|
UTSW |
9 |
14,786,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0050:Mre11a
|
UTSW |
9 |
14,830,973 (GRCm38) |
splice site |
probably benign |
|
|
R0594:Mre11a
|
UTSW |
9 |
14,815,209 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1241:Mre11a
|
UTSW |
9 |
14,799,639 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1905:Mre11a
|
UTSW |
9 |
14,799,627 (GRCm38) |
missense |
probably benign |
0.08 |
|
R2030:Mre11a
|
UTSW |
9 |
14,795,805 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2270:Mre11a
|
UTSW |
9 |
14,815,174 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2511:Mre11a
|
UTSW |
9 |
14,795,769 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R2851:Mre11a
|
UTSW |
9 |
14,826,547 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2852:Mre11a
|
UTSW |
9 |
14,826,547 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2853:Mre11a
|
UTSW |
9 |
14,826,547 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3765:Mre11a
|
UTSW |
9 |
14,809,847 (GRCm38) |
missense |
probably benign |
0.25 |
|
R4612:Mre11a
|
UTSW |
9 |
14,802,903 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5007:Mre11a
|
UTSW |
9 |
14,809,820 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5343:Mre11a
|
UTSW |
9 |
14,811,834 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5679:Mre11a
|
UTSW |
9 |
14,786,919 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5834:Mre11a
|
UTSW |
9 |
14,799,657 (GRCm38) |
missense |
probably benign |
0.15 |
|
R5914:Mre11a
|
UTSW |
9 |
14,811,936 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5935:Mre11a
|
UTSW |
9 |
14,786,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6089:Mre11a
|
UTSW |
9 |
14,819,464 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6625:Mre11a
|
UTSW |
9 |
14,805,391 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R7248:Mre11a
|
UTSW |
9 |
14,811,913 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R7744:Mre11a
|
UTSW |
9 |
14,809,832 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7999:Mre11a
|
UTSW |
9 |
14,799,669 (GRCm38) |
nonsense |
probably null |
|
|
R8179:Mre11a
|
UTSW |
9 |
14,797,066 (GRCm38) |
missense |
probably null |
1.00 |
|
R9293:Mre11a
|
UTSW |
9 |
14,799,588 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9302:Mre11a
|
UTSW |
9 |
14,785,530 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9368:Mre11a
|
UTSW |
9 |
14,825,218 (GRCm38) |
missense |
probably benign |
|
|
R9410:Mre11a
|
UTSW |
9 |
14,805,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAAATCACTAGCGCTTGTTC -3'
(R):5'- GCATGGCCATGTAATTACTGC -3'
Sequencing Primer
(F):5'- GCGCTTGTTCAAAAAGTCTACC -3'
(R):5'- TGGCCATGTAATTACTGCAACAC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation