Incidental Mutation 'R2863:Mus81'
ID |
253071 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mus81
|
Ensembl Gene |
ENSMUSG00000024906 |
Gene Name |
MUS81 structure-specific endonuclease subunit |
Synonyms |
1200008A18Rik |
MMRRC Submission |
040453-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.316)
|
Stock # |
R2863 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
5532589-5538461 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 5536528 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Serine
at position 146
(Y146S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025841
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025841]
[ENSMUST00000070118]
[ENSMUST00000116560]
[ENSMUST00000124334]
[ENSMUST00000126471]
[ENSMUST00000209469]
[ENSMUST00000168330]
[ENSMUST00000165485]
[ENSMUST00000167371]
|
AlphaFold |
Q91ZJ0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025841
AA Change: Y146S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000025841 Gene: ENSMUSG00000024906 AA Change: Y146S
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 |
possibly damaging
Transcript: ENSMUST00000124334
AA Change: Y146S
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000114895 Gene: ENSMUSG00000024906 AA Change: Y146S
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 |
unknown
Transcript: ENSMUST00000133436
AA Change: Y110S
|
SMART Domains |
Protein: ENSMUSP00000118580 Gene: ENSMUSG00000024906 AA Change: Y110S
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: ENSMUST00000147961
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209469
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149908
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146661
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144422
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140365
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151932
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154215
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168330
|
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: 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Armh3 |
A |
T |
19: 45,874,396 (GRCm39) |
N592K |
probably damaging |
Het |
Bag5 |
T |
C |
12: 111,677,029 (GRCm39) |
T265A |
probably benign |
Het |
Bmper |
A |
G |
9: 23,395,237 (GRCm39) |
N656S |
probably benign |
Het |
Boc |
A |
G |
16: 44,313,323 (GRCm39) |
S514P |
probably benign |
Het |
Ddx6 |
G |
T |
9: 44,525,553 (GRCm39) |
L103F |
probably damaging |
Het |
Epb41l3 |
C |
T |
17: 69,517,316 (GRCm39) |
P115S |
probably benign |
Het |
Exoc6 |
T |
C |
19: 37,641,861 (GRCm39) |
F709S |
probably benign |
Het |
Fnip1 |
T |
C |
11: 54,393,250 (GRCm39) |
I562T |
probably damaging |
Het |
Fxr2 |
T |
A |
11: 69,530,253 (GRCm39) |
I40N |
probably damaging |
Het |
Ifna6 |
G |
C |
4: 88,746,099 (GRCm39) |
R149S |
probably benign |
Het |
Ifna6 |
C |
A |
4: 88,746,086 (GRCm39) |
T145K |
probably benign |
Het |
Ldb2 |
T |
C |
5: 44,637,666 (GRCm39) |
Q214R |
probably damaging |
Het |
Myh11 |
T |
C |
16: 14,057,290 (GRCm39) |
I335V |
probably benign |
Het |
Nid2 |
G |
A |
14: 19,818,471 (GRCm39) |
E322K |
possibly damaging |
Het |
Odad1 |
T |
C |
7: 45,597,736 (GRCm39) |
S549P |
probably benign |
Het |
Ofcc1 |
A |
T |
13: 40,226,236 (GRCm39) |
S765R |
probably damaging |
Het |
Ofcc1 |
T |
A |
13: 40,241,414 (GRCm39) |
H698L |
possibly damaging |
Het |
Or8b56 |
T |
A |
9: 38,739,835 (GRCm39) |
F283I |
possibly damaging |
Het |
Otog |
T |
G |
7: 45,918,730 (GRCm39) |
C935W |
probably damaging |
Het |
Pcdhga3 |
T |
C |
18: 37,807,643 (GRCm39) |
V32A |
probably damaging |
Het |
Phc3 |
C |
T |
3: 30,968,277 (GRCm39) |
D920N |
probably damaging |
Het |
Pou6f1 |
A |
G |
15: 100,478,689 (GRCm39) |
|
probably null |
Het |
Ppp4c |
A |
T |
7: 126,391,272 (GRCm39) |
I20N |
probably damaging |
Het |
Prkag2 |
T |
A |
5: 25,226,790 (GRCm39) |
T156S |
probably benign |
Het |
Psd |
T |
C |
19: 46,303,201 (GRCm39) |
D95G |
probably damaging |
Het |
Riox2 |
A |
G |
16: 59,309,756 (GRCm39) |
D370G |
probably damaging |
Het |
Spink14 |
T |
A |
18: 44,163,948 (GRCm39) |
C39S |
probably damaging |
Het |
Tdrd9 |
T |
C |
12: 111,997,695 (GRCm39) |
V728A |
probably benign |
Het |
Tgm2 |
T |
C |
2: 157,985,019 (GRCm39) |
E29G |
probably benign |
Het |
Wdr35 |
T |
A |
12: 9,078,060 (GRCm39) |
Y1139* |
probably null |
Het |
Wdr95 |
T |
A |
5: 149,505,321 (GRCm39) |
C367* |
probably null |
Het |
Zfp35 |
T |
A |
18: 24,137,352 (GRCm39) |
D565E |
probably 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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTCCTCTTTGGTTAGGAAGCTG -3'
(R):5'- TGGCCACCATCACATTCCAG -3'
Sequencing Primer
(F):5'- AGCTGTGGCCATCAGAATTC -3'
(R):5'- CACATTCCAGATTTACTAGGGCTTG -3'
|
Posted On |
2014-12-04 |