Incidental Mutation 'IGL02120:Mus81'
ID |
280578 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mus81
|
Ensembl Gene |
ENSMUSG00000024906 |
Gene Name |
MUS81 structure-specific endonuclease subunit |
Synonyms |
1200008A18Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.316)
|
Stock # |
IGL02120
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
5532589-5538461 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 5535661 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147514
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025841]
[ENSMUST00000070118]
[ENSMUST00000116560]
[ENSMUST00000124334]
[ENSMUST00000126471]
[ENSMUST00000209469]
[ENSMUST00000168330]
[ENSMUST00000165485]
[ENSMUST00000166253]
[ENSMUST00000167371]
|
AlphaFold |
Q91ZJ0 |
Predicted Effect |
probably benign
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: ENSMUST00000070118
|
SMART Domains |
Protein: ENSMUSP00000064719 Gene: ENSMUSG00000024909
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
46 |
N/A |
INTRINSIC |
EGF_like
|
73 |
113 |
2.74e-1 |
SMART |
low complexity region
|
115 |
130 |
N/A |
INTRINSIC |
EGF_CA
|
142 |
182 |
1.08e-10 |
SMART |
EGF_CA
|
183 |
221 |
1.94e-12 |
SMART |
EGF_CA
|
222 |
261 |
1.36e-7 |
SMART |
EGF_CA
|
262 |
301 |
2.19e-11 |
SMART |
EGF
|
305 |
347 |
1.95e1 |
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 |
probably benign
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 |
probably benign
Transcript: ENSMUST00000126471
|
SMART Domains |
Protein: ENSMUSP00000121435 Gene: ENSMUSG00000024906
Domain | Start | End | E-Value | Type |
PDB:2KP7|A
|
11 |
72 |
8e-21 |
PDB |
|
Predicted Effect |
probably benign
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: ENSMUST00000154215
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149908
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144422
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146661
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151932
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209469
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147961
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168330
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164388
|
SMART Domains |
Protein: ENSMUSP00000131979 Gene: ENSMUSG00000024909
Domain | Start | End | E-Value | Type |
EGF
|
4 |
35 |
1.59e1 |
SMART |
EGF
|
39 |
81 |
1.95e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164204
|
SMART Domains |
Protein: ENSMUSP00000128414 Gene: ENSMUSG00000024909
Domain | Start | End | E-Value | Type |
Pfam:EGF_CA
|
37 |
69 |
5.4e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165485
|
SMART Domains |
Protein: ENSMUSP00000133016 Gene: ENSMUSG00000024909
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
EGF_like
|
54 |
94 |
2.74e-1 |
SMART |
low complexity region
|
96 |
111 |
N/A |
INTRINSIC |
EGF_CA
|
123 |
163 |
1.08e-10 |
SMART |
EGF_CA
|
164 |
202 |
1.94e-12 |
SMART |
EGF_CA
|
203 |
242 |
1.36e-7 |
SMART |
EGF_CA
|
243 |
282 |
2.19e-11 |
SMART |
EGF
|
286 |
328 |
1.95e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166253
|
SMART Domains |
Protein: ENSMUSP00000127312 Gene: ENSMUSG00000024909
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
EGF_CA
|
54 |
92 |
1.94e-12 |
SMART |
EGF_CA
|
93 |
132 |
1.36e-7 |
SMART |
EGF_CA
|
133 |
172 |
2.19e-11 |
SMART |
EGF
|
176 |
218 |
1.95e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167371
|
SMART Domains |
Protein: ENSMUSP00000129746 Gene: ENSMUSG00000024909
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
EGF_like
|
54 |
94 |
2.74e-1 |
SMART |
low complexity region
|
96 |
111 |
N/A |
INTRINSIC |
EGF_CA
|
123 |
161 |
1.94e-12 |
SMART |
EGF_CA
|
162 |
201 |
1.36e-7 |
SMART |
EGF_CA
|
202 |
241 |
2.19e-11 |
SMART |
EGF
|
245 |
287 |
1.95e1 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
C |
2: 69,087,654 (GRCm39) |
Y1037C |
probably damaging |
Het |
Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
Ankrd33b |
T |
C |
15: 31,367,202 (GRCm39) |
T113A |
possibly damaging |
Het |
Aox3 |
T |
A |
1: 58,166,809 (GRCm39) |
N177K |
probably benign |
Het |
Arhgap29 |
T |
A |
3: 121,797,906 (GRCm39) |
V532E |
probably benign |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Caskin1 |
G |
T |
17: 24,719,916 (GRCm39) |
G401V |
probably damaging |
Het |
Cemip |
A |
T |
7: 83,600,771 (GRCm39) |
M950K |
probably damaging |
Het |
Cfap107 |
C |
T |
4: 144,144,981 (GRCm39) |
R195H |
probably benign |
Het |
Chrd |
T |
C |
16: 20,553,291 (GRCm39) |
V211A |
probably damaging |
Het |
Ckap2l |
T |
C |
2: 129,127,542 (GRCm39) |
N212S |
possibly damaging |
Het |
Clip1 |
T |
C |
5: 123,785,946 (GRCm39) |
D246G |
probably damaging |
Het |
Dlst |
T |
C |
12: 85,165,342 (GRCm39) |
S82P |
probably benign |
Het |
Dmxl1 |
T |
A |
18: 50,027,245 (GRCm39) |
L2118M |
possibly damaging |
Het |
Dnah7a |
T |
C |
1: 53,534,876 (GRCm39) |
K2795E |
possibly damaging |
Het |
Enpp5 |
T |
A |
17: 44,391,736 (GRCm39) |
M55K |
probably benign |
Het |
Epdr1 |
A |
T |
13: 19,778,641 (GRCm39) |
S50T |
probably damaging |
Het |
Gm7808 |
T |
A |
9: 19,839,313 (GRCm39) |
|
probably benign |
Het |
Huwe1 |
T |
A |
X: 150,690,386 (GRCm39) |
F2485I |
possibly damaging |
Het |
Kcnb2 |
C |
T |
1: 15,780,085 (GRCm39) |
T319M |
probably damaging |
Het |
Lama1 |
G |
A |
17: 68,023,784 (GRCm39) |
V60M |
probably damaging |
Het |
Lingo3 |
A |
T |
10: 80,671,693 (GRCm39) |
L79Q |
probably damaging |
Het |
Magi2 |
T |
A |
5: 20,433,451 (GRCm39) |
|
probably null |
Het |
Mob2 |
C |
A |
7: 141,564,035 (GRCm39) |
V33L |
possibly damaging |
Het |
Nup210l |
G |
A |
3: 90,044,169 (GRCm39) |
G490D |
probably damaging |
Het |
Or13n4 |
A |
C |
7: 106,422,905 (GRCm39) |
V276G |
possibly damaging |
Het |
Pbp2 |
A |
G |
6: 135,286,816 (GRCm39) |
V177A |
probably damaging |
Het |
Pomt2 |
T |
C |
12: 87,158,326 (GRCm39) |
D656G |
probably benign |
Het |
Ppp2r1b |
A |
G |
9: 50,773,069 (GRCm39) |
|
probably benign |
Het |
Prp2rt |
G |
T |
13: 97,235,285 (GRCm39) |
|
probably benign |
Het |
Ptprq |
T |
C |
10: 107,503,333 (GRCm39) |
E775G |
probably damaging |
Het |
Rad54l |
T |
C |
4: 115,956,181 (GRCm39) |
I549V |
probably benign |
Het |
Ranbp10 |
T |
C |
8: 106,532,214 (GRCm39) |
Y145C |
probably damaging |
Het |
Runx1t1 |
A |
T |
4: 13,846,884 (GRCm39) |
T223S |
probably benign |
Het |
Stxbp6 |
G |
T |
12: 44,948,831 (GRCm39) |
|
probably benign |
Het |
Syne2 |
A |
G |
12: 75,993,480 (GRCm39) |
D2085G |
probably damaging |
Het |
Szt2 |
C |
T |
4: 118,245,761 (GRCm39) |
R1064Q |
probably benign |
Het |
Taar3 |
A |
G |
10: 23,826,065 (GRCm39) |
T204A |
probably benign |
Het |
Tdpoz1 |
A |
G |
3: 93,577,750 (GRCm39) |
S345P |
probably damaging |
Het |
Tgm4 |
T |
A |
9: 122,875,594 (GRCm39) |
I149N |
probably damaging |
Het |
Tubal3 |
T |
A |
13: 3,980,675 (GRCm39) |
I129N |
probably damaging |
Het |
Vegfc |
T |
C |
8: 54,634,436 (GRCm39) |
F372L |
possibly damaging |
Het |
Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
Vwf |
C |
A |
6: 125,592,997 (GRCm39) |
L786M |
probably benign |
Het |
|
Other mutations in Mus81 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R5489:Mus81
|
UTSW |
19 |
5,537,917 (GRCm39) |
unclassified |
probably benign |
|
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 |
|
|
Posted On |
2015-04-16 |