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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
IGL02120
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
5482345-5488402 bp(-) (GRCm38) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 5485633 bp (GRCm38)
|
| 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: ENSMUST00000144422
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146661
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147961
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149908
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154215
|
| 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: 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: ENSMUST00000209469
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168330
|
| 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 |
|---|
| 1700012P22Rik |
C |
T |
4: 144,418,411 |
R195H |
probably benign |
Het |
| Abcb11 |
T |
C |
2: 69,257,310 |
Y1037C |
probably damaging |
Het |
| Aldh16a1 |
G |
A |
7: 45,146,035 |
P400L |
probably damaging |
Het |
| Ankrd33b |
T |
C |
15: 31,367,056 |
T113A |
possibly damaging |
Het |
| Aox3 |
T |
A |
1: 58,127,650 |
N177K |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 122,004,257 |
V532E |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,602,727 |
S899N |
probably damaging |
Het |
| Caskin1 |
G |
T |
17: 24,500,942 |
G401V |
probably damaging |
Het |
| Cemip |
A |
T |
7: 83,951,563 |
M950K |
probably damaging |
Het |
| Chrd |
T |
C |
16: 20,734,541 |
V211A |
probably damaging |
Het |
| Ckap2l |
T |
C |
2: 129,285,622 |
N212S |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,647,883 |
D246G |
probably damaging |
Het |
| Dlst |
T |
C |
12: 85,118,568 |
S82P |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 49,894,178 |
L2118M |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,495,717 |
K2795E |
possibly damaging |
Het |
| Enpp5 |
T |
A |
17: 44,080,845 |
M55K |
probably benign |
Het |
| Epdr1 |
A |
T |
13: 19,594,471 |
S50T |
probably damaging |
Het |
| Gm6169 |
G |
T |
13: 97,098,777 |
|
probably benign |
Het |
| Gm7808 |
T |
A |
9: 19,928,017 |
|
probably benign |
Het |
| Huwe1 |
T |
A |
X: 151,907,390 |
F2485I |
possibly damaging |
Het |
| Kcnb2 |
C |
T |
1: 15,709,861 |
T319M |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 67,716,789 |
V60M |
probably damaging |
Het |
| Lingo3 |
A |
T |
10: 80,835,859 |
L79Q |
probably damaging |
Het |
| Magi2 |
T |
A |
5: 20,228,453 |
|
probably null |
Het |
| Mob2 |
C |
A |
7: 142,010,298 |
V33L |
possibly damaging |
Het |
| Nup210l |
G |
A |
3: 90,136,862 |
G490D |
probably damaging |
Het |
| Olfr702 |
A |
C |
7: 106,823,698 |
V276G |
possibly damaging |
Het |
| Pbp2 |
A |
G |
6: 135,309,818 |
V177A |
probably damaging |
Het |
| Pomt2 |
T |
C |
12: 87,111,552 |
D656G |
probably benign |
Het |
| Ppp2r1b |
A |
G |
9: 50,861,769 |
|
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,667,472 |
E775G |
probably damaging |
Het |
| Rad54l |
T |
C |
4: 116,098,984 |
I549V |
probably benign |
Het |
| Ranbp10 |
T |
C |
8: 105,805,582 |
Y145C |
probably damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,846,884 |
T223S |
probably benign |
Het |
| Stxbp6 |
G |
T |
12: 44,902,048 |
|
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,946,706 |
D2085G |
probably damaging |
Het |
| Szt2 |
C |
T |
4: 118,388,564 |
R1064Q |
probably benign |
Het |
| Taar3 |
A |
G |
10: 23,950,167 |
T204A |
probably benign |
Het |
| Tdpoz1 |
A |
G |
3: 93,670,443 |
S345P |
probably damaging |
Het |
| Tgm4 |
T |
A |
9: 123,046,529 |
I149N |
probably damaging |
Het |
| Tubal3 |
T |
A |
13: 3,930,675 |
I129N |
probably damaging |
Het |
| Vegfc |
T |
C |
8: 54,181,401 |
F372L |
possibly damaging |
Het |
| Vmn2r9 |
G |
A |
5: 108,843,636 |
L620F |
probably damaging |
Het |
| Vwf |
C |
A |
6: 125,616,034 |
L786M |
probably benign |
Het |
|
| Other mutations in Mus81 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03140:Mus81
|
APN |
19 |
5483956 |
missense |
probably damaging |
1.00 |
|
IGL03370:Mus81
|
APN |
19 |
5484963 |
unclassified |
probably benign |
|
|
city
|
UTSW |
19 |
5487793 |
missense |
probably benign |
0.30 |
|
country
|
UTSW |
19 |
5484211 |
missense |
probably damaging |
1.00 |
|
R0116:Mus81
|
UTSW |
19 |
5486524 |
missense |
probably damaging |
1.00 |
|
R0480:Mus81
|
UTSW |
19 |
5487931 |
unclassified |
probably benign |
|
|
R1243:Mus81
|
UTSW |
19 |
5485117 |
missense |
probably benign |
|
|
R1439:Mus81
|
UTSW |
19 |
5485117 |
missense |
probably benign |
|
|
R1477:Mus81
|
UTSW |
19 |
5486334 |
missense |
probably benign |
0.00 |
|
R1795:Mus81
|
UTSW |
19 |
5483476 |
missense |
probably benign |
0.00 |
|
R2346:Mus81
|
UTSW |
19 |
5484963 |
unclassified |
probably benign |
|
|
R2863:Mus81
|
UTSW |
19 |
5486500 |
missense |
probably damaging |
1.00 |
|
R3785:Mus81
|
UTSW |
19 |
5485361 |
unclassified |
probably benign |
|
|
R5312:Mus81
|
UTSW |
19 |
5483494 |
missense |
possibly damaging |
0.79 |
|
R5489:Mus81
|
UTSW |
19 |
5487889 |
unclassified |
probably benign |
|
|
R6037:Mus81
|
UTSW |
19 |
5484004 |
missense |
probably damaging |
1.00 |
|
R6037:Mus81
|
UTSW |
19 |
5484004 |
missense |
probably damaging |
1.00 |
|
R6970:Mus81
|
UTSW |
19 |
5485526 |
missense |
probably benign |
0.45 |
|
R7037:Mus81
|
UTSW |
19 |
5486080 |
missense |
probably damaging |
1.00 |
|
R7060:Mus81
|
UTSW |
19 |
5487793 |
missense |
probably benign |
0.30 |
|
R7100:Mus81
|
UTSW |
19 |
5484211 |
missense |
probably damaging |
1.00 |
|
R8355:Mus81
|
UTSW |
19 |
5484192 |
missense |
probably damaging |
1.00 |
|
R8455:Mus81
|
UTSW |
19 |
5484192 |
missense |
probably damaging |
1.00 |
|
R8916:Mus81
|
UTSW |
19 |
5484186 |
missense |
probably damaging |
1.00 |
|
R9098:Mus81
|
UTSW |
19 |
5484004 |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation