Incidental Mutation 'R8355:Mus81'
ID |
645747 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mus81
|
Ensembl Gene |
ENSMUSG00000024906 |
Gene Name |
MUS81 structure-specific endonuclease subunit |
Synonyms |
1200008A18Rik |
MMRRC Submission |
067869-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.316)
|
Stock # |
R8355 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
5532589-5538461 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 5534220 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 366
(Y366C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025841]
[ENSMUST00000070118]
[ENSMUST00000124334]
[ENSMUST00000126471]
[ENSMUST00000165485]
[ENSMUST00000166253]
[ENSMUST00000167371]
[ENSMUST00000167827]
[ENSMUST00000168330]
|
AlphaFold |
Q91ZJ0 |
PDB Structure |
Solution NMR structure of the Mus81 N-terminal HhH. Northeast Structural Genomics Consortium target MmT1A [SOLUTION NMR]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025841
AA Change: Y366C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025841 Gene: ENSMUSG00000024906 AA Change: Y366C
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 damaging
Transcript: ENSMUST00000124334
AA Change: Y366C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114895 Gene: ENSMUSG00000024906 AA Change: Y366C
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 |
|
SMART Domains |
Protein: ENSMUSP00000118580 Gene: ENSMUSG00000024906 AA Change: Y330C
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 |
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: 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167827
|
SMART Domains |
Protein: ENSMUSP00000127478 Gene: ENSMUSG00000024909
Domain | Start | End | E-Value | Type |
Blast:EGF_like
|
1 |
26 |
9e-10 |
BLAST |
low complexity region
|
28 |
43 |
N/A |
INTRINSIC |
EGF_CA
|
55 |
95 |
1.08e-10 |
SMART |
EGF_CA
|
96 |
134 |
1.94e-12 |
SMART |
EGF_CA
|
135 |
174 |
1.36e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168330
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp3 |
A |
G |
9: 104,204,174 (GRCm39) |
V40A |
possibly damaging |
Het |
Adgra1 |
T |
A |
7: 139,455,567 (GRCm39) |
C398* |
probably null |
Het |
Amy2a1 |
T |
A |
3: 113,324,045 (GRCm39) |
D165V |
probably benign |
Het |
Atf6b |
A |
G |
17: 34,867,197 (GRCm39) |
D63G |
probably benign |
Het |
BC024139 |
T |
C |
15: 76,004,007 (GRCm39) |
D753G |
probably benign |
Het |
Dnah3 |
T |
G |
7: 119,551,431 (GRCm39) |
T2963P |
probably damaging |
Het |
Fanci |
G |
T |
7: 79,085,029 (GRCm39) |
L818F |
probably damaging |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Gm4559 |
C |
A |
7: 141,827,694 (GRCm39) |
C136F |
unknown |
Het |
Gm45844 |
G |
A |
7: 7,281,221 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
T |
A |
5: 25,559,499 (GRCm39) |
|
probably null |
Het |
Lpo |
G |
A |
11: 87,705,114 (GRCm39) |
L407F |
probably damaging |
Het |
Nipbl |
T |
C |
15: 8,364,528 (GRCm39) |
D1292G |
probably damaging |
Het |
Nox3 |
A |
G |
17: 3,736,198 (GRCm39) |
S143P |
probably damaging |
Het |
Npepps |
A |
T |
11: 97,132,800 (GRCm39) |
I309N |
probably damaging |
Het |
Nufip2 |
C |
T |
11: 77,583,259 (GRCm39) |
T391I |
probably damaging |
Het |
Or5g25 |
T |
A |
2: 85,478,485 (GRCm39) |
Y60F |
probably damaging |
Het |
Or7e177 |
A |
G |
9: 20,211,715 (GRCm39) |
Y74C |
probably damaging |
Het |
Piezo2 |
A |
T |
18: 63,224,069 (GRCm39) |
V935E |
probably damaging |
Het |
Rusc2 |
A |
G |
4: 43,422,846 (GRCm39) |
I994M |
probably benign |
Het |
Sgcz |
T |
C |
8: 38,190,239 (GRCm39) |
I96V |
probably benign |
Het |
Tmem108 |
A |
G |
9: 103,377,069 (GRCm39) |
S127P |
possibly damaging |
Het |
Tmem178b |
G |
A |
6: 40,231,869 (GRCm39) |
V168I |
unknown |
Het |
Tut1 |
T |
C |
19: 8,936,626 (GRCm39) |
V150A |
probably benign |
Het |
Txnl4a |
T |
A |
18: 80,250,539 (GRCm39) |
L45Q |
probably damaging |
Het |
V1ra8 |
C |
T |
6: 90,180,447 (GRCm39) |
R217W |
probably damaging |
Het |
Vmn2r95 |
A |
G |
17: 18,660,352 (GRCm39) |
T255A |
probably benign |
Het |
Zfp605 |
A |
G |
5: 110,259,848 (GRCm39) |
|
probably benign |
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 |
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 |
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'- AGCCATCAATGACCTGGAGAAG -3'
(R):5'- TACAGGACCAGAGCCTAGTGTG -3'
Sequencing Primer
(F):5'- CCATCAATGACCTGGAGAAGAAGAC -3'
(R):5'- ATTTCTGAGTTCCAGGACAGCCAG -3'
|
Posted On |
2020-09-02 |