Incidental Mutation 'R5489:Mus81'
ID |
432015 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mus81
|
Ensembl Gene |
ENSMUSG00000024906 |
Gene Name |
MUS81 structure-specific endonuclease subunit |
Synonyms |
1200008A18Rik |
MMRRC Submission |
043050-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.316)
|
Stock # |
R5489 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
5532589-5538461 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 5537917 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147514
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025841]
[ENSMUST00000116560]
[ENSMUST00000124334]
[ENSMUST00000126471]
[ENSMUST00000209469]
|
AlphaFold |
Q91ZJ0 |
Predicted Effect |
silent
Transcript: ENSMUST00000025841
|
SMART Domains |
Protein: ENSMUSP00000025841 Gene: ENSMUSG00000024906
Domain | Start | End | E-Value | Type |
SCOP:d1jmsa1
|
9 |
73 |
7e-3 |
SMART |
PDB:2KP7|A
|
11 |
90 |
5e-51 |
PDB |
low complexity region
|
92 |
107 |
N/A |
INTRINSIC |
PDB:2MC3|A
|
121 |
229 |
1e-48 |
PDB |
ERCC4
|
270 |
372 |
8.31e-26 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116560
|
SMART Domains |
Protein: ENSMUSP00000112259 Gene: ENSMUSG00000056201
Domain | Start | End | E-Value | Type |
ADF
|
19 |
154 |
5.3e-56 |
SMART |
low complexity region
|
195 |
205 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000124334
|
SMART Domains |
Protein: ENSMUSP00000114895 Gene: ENSMUSG00000024906
Domain | Start | End | E-Value | Type |
SCOP:d1jmsa1
|
9 |
73 |
9e-3 |
SMART |
PDB:2KP7|A
|
11 |
90 |
9e-51 |
PDB |
low complexity region
|
92 |
107 |
N/A |
INTRINSIC |
PDB:2MC3|A
|
121 |
229 |
3e-48 |
PDB |
ERCC4
|
270 |
372 |
8.31e-26 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000126471
AA Change: I55V
|
SMART Domains |
Protein: ENSMUSP00000121435 Gene: ENSMUSG00000024906 AA Change: I55V
Domain | Start | End | E-Value | Type |
PDB:2KP7|A
|
11 |
72 |
8e-21 |
PDB |
|
Predicted Effect |
silent
Transcript: ENSMUST00000133436
|
SMART Domains |
Protein: ENSMUSP00000118580 Gene: ENSMUSG00000024906
Domain | Start | End | E-Value | Type |
PDB:2KP7|A
|
2 |
55 |
5e-30 |
PDB |
low complexity region
|
57 |
72 |
N/A |
INTRINSIC |
PDB:2MC3|A
|
86 |
194 |
8e-50 |
PDB |
ERCC4
|
235 |
337 |
8.31e-26 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140365
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144422
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147961
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209469
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154215
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146661
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149908
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151932
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.6%
|
Validation Efficiency |
95% (57/60) |
MGI Phenotype |
PHENOTYPE: Homozygous and heterozygous null mice for one allele display increased tumor incidence and reduced life spans. Homozygous null mice for a second allele display normal life span and tumor incidence. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730455P16Rik |
A |
T |
11: 80,268,778 (GRCm39) |
M1K |
probably null |
Het |
Abca14 |
T |
A |
7: 119,851,473 (GRCm39) |
V817D |
probably damaging |
Het |
Aqr |
T |
C |
2: 113,963,554 (GRCm39) |
N632S |
probably damaging |
Het |
Bms1 |
T |
C |
6: 118,390,706 (GRCm39) |
T208A |
possibly damaging |
Het |
Brd8 |
A |
T |
18: 34,741,698 (GRCm39) |
|
probably null |
Het |
Caln1 |
G |
T |
5: 130,443,673 (GRCm39) |
R2L |
possibly damaging |
Het |
Cdk17 |
A |
G |
10: 93,068,274 (GRCm39) |
T344A |
probably damaging |
Het |
Chd8 |
A |
T |
14: 52,450,505 (GRCm39) |
|
probably benign |
Het |
Clec14a |
A |
G |
12: 58,315,035 (GRCm39) |
F196L |
probably damaging |
Het |
Clec2f |
T |
C |
6: 128,997,449 (GRCm39) |
|
noncoding transcript |
Het |
Col4a1 |
A |
T |
8: 11,362,550 (GRCm39) |
|
probably benign |
Het |
Col9a3 |
G |
A |
2: 180,258,318 (GRCm39) |
R579H |
probably damaging |
Het |
Cyb561 |
A |
G |
11: 105,826,349 (GRCm39) |
V202A |
probably benign |
Het |
Cyp2c69 |
T |
G |
19: 39,839,603 (GRCm39) |
Q340P |
probably null |
Het |
D630003M21Rik |
T |
A |
2: 158,058,941 (GRCm39) |
T320S |
probably benign |
Het |
D630045J12Rik |
A |
T |
6: 38,173,782 (GRCm39) |
S129T |
possibly damaging |
Het |
Ddx54 |
A |
G |
5: 120,762,786 (GRCm39) |
T636A |
probably benign |
Het |
Dnah8 |
T |
G |
17: 31,009,930 (GRCm39) |
F3774V |
probably damaging |
Het |
Ern1 |
A |
G |
11: 106,298,355 (GRCm39) |
S674P |
probably damaging |
Het |
Fam13a |
A |
T |
6: 59,001,303 (GRCm39) |
L8Q |
probably null |
Het |
Fam83b |
T |
C |
9: 76,452,881 (GRCm39) |
N62S |
probably benign |
Het |
Foxred1 |
A |
T |
9: 35,121,266 (GRCm39) |
V94E |
probably damaging |
Het |
Frmd8 |
T |
A |
19: 5,902,680 (GRCm39) |
Q457L |
probably damaging |
Het |
Gvin3 |
T |
A |
7: 106,200,797 (GRCm39) |
|
noncoding transcript |
Het |
Heatr6 |
A |
G |
11: 83,665,258 (GRCm39) |
E741G |
probably damaging |
Het |
Hnrnpab |
A |
G |
11: 51,495,640 (GRCm39) |
L133S |
probably damaging |
Het |
Itga2 |
A |
T |
13: 114,979,971 (GRCm39) |
W1077R |
probably damaging |
Het |
Kat6b |
A |
G |
14: 21,719,332 (GRCm39) |
D1228G |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Kmt2a |
A |
T |
9: 44,752,335 (GRCm39) |
|
probably benign |
Het |
Leap2 |
T |
G |
11: 53,313,240 (GRCm39) |
*77C |
probably null |
Het |
Mmp20 |
A |
G |
9: 7,643,958 (GRCm39) |
|
probably null |
Het |
Mrps9 |
T |
G |
1: 42,937,593 (GRCm39) |
|
probably benign |
Het |
Muc2 |
T |
C |
7: 141,305,169 (GRCm39) |
S158P |
probably benign |
Het |
Nrip3 |
T |
C |
7: 109,361,045 (GRCm39) |
T210A |
probably damaging |
Het |
Or52s1b |
T |
C |
7: 102,822,658 (GRCm39) |
Y62C |
probably damaging |
Het |
Padi2 |
T |
C |
4: 140,671,799 (GRCm39) |
F509S |
probably damaging |
Het |
Pcdha12 |
A |
G |
18: 37,155,260 (GRCm39) |
T660A |
probably benign |
Het |
Pdzd2 |
G |
A |
15: 12,382,762 (GRCm39) |
P1197L |
probably benign |
Het |
Rec8 |
A |
T |
14: 55,860,283 (GRCm39) |
Q291L |
probably benign |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Sart3 |
A |
G |
5: 113,909,441 (GRCm39) |
W86R |
probably damaging |
Het |
Slc17a4 |
A |
G |
13: 24,082,825 (GRCm39) |
|
probably null |
Het |
Tdpoz1 |
T |
A |
3: 93,577,974 (GRCm39) |
Y270F |
possibly damaging |
Het |
Thap3 |
T |
A |
4: 152,070,109 (GRCm39) |
|
probably benign |
Het |
Tmem45a |
T |
A |
16: 56,646,074 (GRCm39) |
|
probably null |
Het |
Trim43a |
A |
T |
9: 88,464,229 (GRCm39) |
I47F |
probably damaging |
Het |
Vps13b |
A |
T |
15: 35,770,688 (GRCm39) |
I2044L |
probably benign |
Het |
Zfp735 |
G |
A |
11: 73,601,419 (GRCm39) |
W121* |
probably null |
Het |
Zmym2 |
A |
G |
14: 57,193,712 (GRCm39) |
K1176E |
possibly damaging |
Het |
|
Other mutations in Mus81 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02120:Mus81
|
APN |
19 |
5,535,661 (GRCm39) |
unclassified |
probably benign |
|
IGL03140:Mus81
|
APN |
19 |
5,533,984 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03370:Mus81
|
APN |
19 |
5,534,991 (GRCm39) |
unclassified |
probably benign |
|
city
|
UTSW |
19 |
5,537,821 (GRCm39) |
missense |
probably benign |
0.30 |
country
|
UTSW |
19 |
5,534,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R0116:Mus81
|
UTSW |
19 |
5,536,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R0480:Mus81
|
UTSW |
19 |
5,537,959 (GRCm39) |
unclassified |
probably benign |
|
R1243:Mus81
|
UTSW |
19 |
5,535,145 (GRCm39) |
missense |
probably benign |
|
R1439:Mus81
|
UTSW |
19 |
5,535,145 (GRCm39) |
missense |
probably benign |
|
R1477:Mus81
|
UTSW |
19 |
5,536,362 (GRCm39) |
missense |
probably benign |
0.00 |
R1795:Mus81
|
UTSW |
19 |
5,533,504 (GRCm39) |
missense |
probably benign |
0.00 |
R2346:Mus81
|
UTSW |
19 |
5,534,991 (GRCm39) |
unclassified |
probably benign |
|
R2863:Mus81
|
UTSW |
19 |
5,536,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R3785:Mus81
|
UTSW |
19 |
5,535,389 (GRCm39) |
unclassified |
probably benign |
|
R5312:Mus81
|
UTSW |
19 |
5,533,522 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6037:Mus81
|
UTSW |
19 |
5,534,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R6037:Mus81
|
UTSW |
19 |
5,534,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R6970:Mus81
|
UTSW |
19 |
5,535,554 (GRCm39) |
missense |
probably benign |
0.45 |
R7037:Mus81
|
UTSW |
19 |
5,536,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R7060:Mus81
|
UTSW |
19 |
5,537,821 (GRCm39) |
missense |
probably benign |
0.30 |
R7100:Mus81
|
UTSW |
19 |
5,534,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R8355:Mus81
|
UTSW |
19 |
5,534,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R8455:Mus81
|
UTSW |
19 |
5,534,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R8916:Mus81
|
UTSW |
19 |
5,534,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R9098:Mus81
|
UTSW |
19 |
5,534,032 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTAGACACAGCCTGCACCTAAG -3'
(R):5'- AGCCAGTCTAGTTCTTATGGCG -3'
Sequencing Primer
(F):5'- CAGCCTGCACCTAAGAAATTTAG -3'
(R):5'- AACCCGCTCTTCGTTCGTTG -3'
|
Posted On |
2016-10-05 |