Incidental Mutation 'R2346:Mus81'
| ID |
245963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mus81
|
| Ensembl Gene |
ENSMUSG00000024906 |
| Gene Name |
MUS81 structure-specific endonuclease subunit |
| Synonyms |
1200008A18Rik |
| MMRRC Submission |
040329-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.280)
|
| Stock # |
R2346 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5532589-5538461 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 5534991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025841]
[ENSMUST00000070118]
[ENSMUST00000124334]
[ENSMUST00000126471]
[ENSMUST00000165485]
[ENSMUST00000167371]
[ENSMUST00000167827]
[ENSMUST00000168330]
[ENSMUST00000166253]
|
| 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: 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: ENSMUST00000147961
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146661
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149908
|
| 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: 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: 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: ENSMUST00000168330
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (21/21) |
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC051665 |
T |
C |
13: 60,931,774 (GRCm39) |
|
probably benign |
Het |
| Ces1a |
C |
T |
8: 93,751,947 (GRCm39) |
V396M |
probably benign |
Het |
| Dnm2 |
T |
C |
9: 21,378,852 (GRCm39) |
L137P |
probably damaging |
Het |
| Elf2 |
A |
G |
3: 51,164,865 (GRCm39) |
S380P |
probably benign |
Het |
| Fbxw15 |
T |
C |
9: 109,394,500 (GRCm39) |
Y105C |
probably damaging |
Het |
| Gm12588 |
T |
C |
11: 121,796,994 (GRCm39) |
Y285C |
probably benign |
Het |
| Gm21276 |
T |
A |
7: 38,467,575 (GRCm39) |
|
noncoding transcript |
Het |
| Kat2b |
A |
G |
17: 53,917,932 (GRCm39) |
N97S |
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or8a1b |
T |
C |
9: 37,622,661 (GRCm39) |
R305G |
possibly damaging |
Het |
| Pkhd1l1 |
C |
A |
15: 44,423,902 (GRCm39) |
A3148E |
possibly damaging |
Het |
| Prkar2b |
T |
C |
12: 32,022,149 (GRCm39) |
N212S |
probably benign |
Het |
| Rp1 |
T |
A |
1: 4,418,236 (GRCm39) |
T959S |
probably damaging |
Het |
| Samd4 |
G |
A |
14: 47,122,299 (GRCm39) |
G8R |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Skiv2l-ps1 |
A |
G |
17: 34,989,076 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn1r20 |
A |
G |
6: 57,408,931 (GRCm39) |
M86V |
possibly damaging |
Het |
| Vwa1 |
A |
G |
4: 155,857,526 (GRCm39) |
Y91H |
probably benign |
Het |
| Zan |
A |
G |
5: 137,420,129 (GRCm39) |
S2843P |
unknown |
Het |
| Zbtb39 |
A |
T |
10: 127,577,450 (GRCm39) |
Q8L |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGCATGGCTTAAAAGGGG -3'
(R):5'- ATGCTCCGAGAGTTACAAAGGC -3'
Sequencing Primer
(F):5'- CATGGCTTAAAAGGGGCTTCAAGTG -3'
(R):5'- TACAAAGGCTGCGTGTGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation