Incidental Mutation 'R8179:Mre11a'
| ID |
634552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mre11a
|
| Ensembl Gene |
ENSMUSG00000031928 |
| Gene Name |
MRE11A homolog A, double strand break repair nuclease |
| Synonyms |
|
| MMRRC Submission |
067604-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8179 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
14695971-14748421 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14708362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 142
(D142E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034405]
[ENSMUST00000115632]
[ENSMUST00000147305]
|
| AlphaFold |
Q61216 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034405
AA Change: D142E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928
AA Change: D142E
| 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 null
Transcript: ENSMUST00000115632
AA Change: D142E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111295
Gene: ENSMUSG00000031928
AA Change: D142E
| 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 null
Transcript: ENSMUST00000147305
AA Change: D142E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000116321
Gene: ENSMUSG00000031928
AA Change: D142E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
G |
11: 110,136,100 (GRCm39) |
Y170H |
probably damaging |
Het |
| Ace3 |
G |
T |
11: 105,895,383 (GRCm39) |
V602L |
probably benign |
Het |
| Ahr |
T |
C |
12: 35,560,050 (GRCm39) |
Q201R |
probably benign |
Het |
| Aldh18a1 |
A |
C |
19: 40,545,952 (GRCm39) |
C612G |
probably damaging |
Het |
| Ankrd40 |
G |
A |
11: 94,225,541 (GRCm39) |
A191T |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,137,117 (GRCm39) |
D1169G |
probably damaging |
Het |
| Arfgap2 |
T |
C |
2: 91,105,668 (GRCm39) |
F505L |
probably damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,381,776 (GRCm39) |
F423L |
probably damaging |
Het |
| Atf6b |
T |
C |
17: 34,872,968 (GRCm39) |
M628T |
probably damaging |
Het |
| Casp8ap2 |
T |
A |
4: 32,643,939 (GRCm39) |
L1004* |
probably null |
Het |
| Cc2d2a |
T |
A |
5: 43,857,295 (GRCm39) |
L494Q |
probably damaging |
Het |
| Cd180 |
T |
C |
13: 102,842,141 (GRCm39) |
S396P |
probably benign |
Het |
| Cdk19 |
T |
C |
10: 40,270,368 (GRCm39) |
I59T |
possibly damaging |
Het |
| Cfap54 |
G |
T |
10: 92,833,178 (GRCm39) |
F1149L |
possibly damaging |
Het |
| Chp1 |
C |
T |
2: 119,378,253 (GRCm39) |
|
probably benign |
Het |
| Clmp |
T |
C |
9: 40,692,475 (GRCm39) |
F248S |
probably benign |
Het |
| Ctc1 |
T |
A |
11: 68,915,050 (GRCm39) |
I237K |
probably benign |
Het |
| Dcaf1 |
G |
T |
9: 106,735,115 (GRCm39) |
V688L |
probably damaging |
Het |
| Ddx54 |
T |
A |
5: 120,765,167 (GRCm39) |
M812K |
probably benign |
Het |
| Disc1 |
C |
T |
8: 125,814,316 (GRCm39) |
P60L |
probably benign |
Het |
| Disp2 |
C |
G |
2: 118,623,030 (GRCm39) |
P1254R |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 117,842,284 (GRCm39) |
I4432F |
possibly damaging |
Het |
| Dnajc15 |
A |
T |
14: 78,090,393 (GRCm39) |
I58N |
|
Het |
| Elovl5 |
A |
G |
9: 77,884,181 (GRCm39) |
N159S |
probably damaging |
Het |
| Fgfr3 |
T |
C |
5: 33,885,099 (GRCm39) |
V71A |
probably benign |
Het |
| Frs2 |
A |
T |
10: 116,912,791 (GRCm39) |
H167Q |
probably damaging |
Het |
| Gm4553 |
A |
T |
7: 141,718,594 (GRCm39) |
V278E |
unknown |
Het |
| Grin2d |
A |
T |
7: 45,507,452 (GRCm39) |
Y416* |
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,598,265 (GRCm39) |
V1679E |
probably benign |
Het |
| Igkv18-36 |
T |
C |
6: 69,969,479 (GRCm39) |
Y105C |
probably damaging |
Het |
| Lingo1 |
T |
C |
9: 56,527,134 (GRCm39) |
D491G |
probably damaging |
Het |
| Map3k1 |
A |
C |
13: 111,885,581 (GRCm39) |
I1445M |
probably damaging |
Het |
| Med30 |
A |
T |
15: 52,575,964 (GRCm39) |
Q20L |
probably damaging |
Het |
| Mgat5b |
A |
G |
11: 116,822,554 (GRCm39) |
E96G |
probably benign |
Het |
| Mmp16 |
T |
A |
4: 17,853,854 (GRCm39) |
|
probably null |
Het |
| Mogat1 |
A |
G |
1: 78,504,255 (GRCm39) |
D176G |
possibly damaging |
Het |
| Mybpc2 |
C |
A |
7: 44,159,254 (GRCm39) |
V599L |
probably benign |
Het |
| Myot |
A |
T |
18: 44,487,197 (GRCm39) |
R345* |
probably null |
Het |
| Or10d5 |
G |
A |
9: 39,861,708 (GRCm39) |
R120C |
probably benign |
Het |
| Or10z1 |
T |
G |
1: 174,078,130 (GRCm39) |
D121A |
possibly damaging |
Het |
| Or8g53 |
C |
T |
9: 39,683,200 (GRCm39) |
V299I |
probably benign |
Het |
| Pglyrp2 |
T |
C |
17: 32,635,003 (GRCm39) |
Y453C |
possibly damaging |
Het |
| Phrf1 |
A |
G |
7: 140,836,493 (GRCm39) |
Y255C |
unknown |
Het |
| Plppr4 |
A |
G |
3: 117,125,327 (GRCm39) |
S171P |
probably damaging |
Het |
| Ppip5k1 |
A |
T |
2: 121,172,095 (GRCm39) |
|
probably null |
Het |
| Pramel57 |
T |
C |
5: 95,667,753 (GRCm39) |
V111A |
probably benign |
Het |
| Rapgef3 |
A |
T |
15: 97,658,621 (GRCm39) |
H170Q |
probably benign |
Het |
| Rnf10 |
ACCTCATCTCGTC |
AC |
5: 115,398,176 (GRCm39) |
|
probably null |
Het |
| Rpe65 |
A |
G |
3: 159,330,336 (GRCm39) |
Y501C |
probably benign |
Het |
| Ruvbl2 |
A |
G |
7: 45,072,196 (GRCm39) |
I346T |
probably damaging |
Het |
| Sema3g |
A |
G |
14: 30,942,542 (GRCm39) |
I48V |
probably benign |
Het |
| Slc4a10 |
A |
C |
2: 62,073,792 (GRCm39) |
S285R |
possibly damaging |
Het |
| Slc6a11 |
G |
A |
6: 114,222,567 (GRCm39) |
G521S |
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,554,903 (GRCm39) |
N912D |
probably benign |
Het |
| Traf3ip1 |
T |
C |
1: 91,428,523 (GRCm39) |
V128A |
unknown |
Het |
| Trpc7 |
T |
A |
13: 57,035,693 (GRCm39) |
N80I |
probably damaging |
Het |
| Ttc21b |
G |
A |
2: 66,031,824 (GRCm39) |
H1031Y |
probably benign |
Het |
| Tubg2 |
A |
T |
11: 101,051,082 (GRCm39) |
I235F |
probably benign |
Het |
| Ube2q2l |
A |
G |
6: 136,378,240 (GRCm39) |
S197P |
probably damaging |
Het |
| Vmn2r118 |
A |
T |
17: 55,915,484 (GRCm39) |
Y489N |
probably benign |
Het |
| Vmn2r54 |
G |
T |
7: 12,366,018 (GRCm39) |
C305* |
probably null |
Het |
| Vmn2r86 |
G |
A |
10: 130,288,953 (GRCm39) |
H183Y |
probably benign |
Het |
| Xrcc5 |
T |
C |
1: 72,396,016 (GRCm39) |
V603A |
probably damaging |
Het |
| Zfp110 |
T |
A |
7: 12,578,498 (GRCm39) |
Y136* |
probably null |
Het |
| Zfp112 |
C |
T |
7: 23,825,063 (GRCm39) |
P348S |
probably benign |
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 |
|
|
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'- CCTGTTAAGGTCTGCACAGG -3'
(R):5'- TCTAACACTGTATTTGCCAACCAC -3'
Sequencing Primer
(F):5'- GTCTGCACAGGTGTTCTAAAGTCAAG -3'
(R):5'- TGTATTTGCCAACCACACACAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation