Incidental Mutation 'R1477:Mus81'
| ID |
164160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mus81
|
| Ensembl Gene |
ENSMUSG00000024906 |
| Gene Name |
MUS81 structure-specific endonuclease subunit |
| Synonyms |
1200008A18Rik |
| MMRRC Submission |
039530-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.316)
|
| Stock # |
R1477 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5532589-5538461 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 5536362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 155
(H155Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025841]
[ENSMUST00000070118]
[ENSMUST00000116560]
[ENSMUST00000124334]
[ENSMUST00000126471]
[ENSMUST00000209469]
[ENSMUST00000168330]
[ENSMUST00000167371]
[ENSMUST00000165485]
|
| AlphaFold |
Q91ZJ0 |
| PDB Structure |
Solution NMR structure of the Mus81 N-terminal HhH. Northeast Structural Genomics Consortium target MmT1A [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025841
AA Change: H155Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025841
Gene: ENSMUSG00000024906
AA Change: H155Q
| 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
AA Change: H155Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000114895
Gene: ENSMUSG00000024906
AA Change: H155Q
| 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: H119Q
|
| SMART Domains |
Protein: ENSMUSP00000118580
Gene: ENSMUSG00000024906
AA Change: H119Q
| 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: ENSMUST00000149908
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151932
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209469
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147961
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146661
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144422
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168330
|
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.1%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
A |
C |
19: 55,279,904 (GRCm39) |
D481A |
probably benign |
Het |
| Adam2 |
A |
C |
14: 66,315,149 (GRCm39) |
L8R |
possibly damaging |
Het |
| Ajm1 |
G |
C |
2: 25,469,765 (GRCm39) |
H49D |
possibly damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,259,509 (GRCm39) |
C619S |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,375,573 (GRCm39) |
I2082T |
probably benign |
Het |
| Cgrrf1 |
A |
G |
14: 47,090,895 (GRCm39) |
I210M |
probably benign |
Het |
| Clec2e |
A |
T |
6: 129,072,163 (GRCm39) |
V72E |
probably benign |
Het |
| Cmtr1 |
T |
C |
17: 29,916,131 (GRCm39) |
V587A |
possibly damaging |
Het |
| Col1a2 |
T |
C |
6: 4,539,673 (GRCm39) |
F1314L |
unknown |
Het |
| Ctbp2 |
T |
C |
7: 132,600,670 (GRCm39) |
E618G |
probably damaging |
Het |
| Dnaaf6rt |
G |
A |
1: 31,262,104 (GRCm39) |
V29M |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,072,914 (GRCm39) |
Y398F |
possibly damaging |
Het |
| Ezh1 |
A |
T |
11: 101,083,810 (GRCm39) |
D733E |
probably damaging |
Het |
| Fbxl6 |
A |
G |
15: 76,421,934 (GRCm39) |
S202P |
probably benign |
Het |
| Fcgbpl1 |
C |
A |
7: 27,856,518 (GRCm39) |
Q2102K |
probably benign |
Het |
| Grid2ip |
G |
A |
5: 143,361,340 (GRCm39) |
A191T |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,874,597 (GRCm39) |
S1966G |
probably benign |
Het |
| Ipmk |
A |
G |
10: 71,217,607 (GRCm39) |
K385E |
probably damaging |
Het |
| Itga11 |
G |
A |
9: 62,662,493 (GRCm39) |
V489I |
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,784,727 (GRCm39) |
K137R |
probably benign |
Het |
| Meis1 |
G |
A |
11: 18,831,665 (GRCm39) |
Q458* |
probably null |
Het |
| Mst1r |
T |
C |
9: 107,785,523 (GRCm39) |
S394P |
probably benign |
Het |
| Neb |
G |
A |
2: 52,154,134 (GRCm39) |
L2326F |
probably damaging |
Het |
| Nf1 |
C |
T |
11: 79,286,685 (GRCm39) |
Q162* |
probably null |
Het |
| Nin |
T |
C |
12: 70,090,958 (GRCm39) |
E819G |
possibly damaging |
Het |
| Nox4 |
T |
C |
7: 86,945,074 (GRCm39) |
V79A |
probably benign |
Het |
| Or11g2 |
A |
T |
14: 50,856,170 (GRCm39) |
I164F |
probably damaging |
Het |
| Or13a28 |
T |
A |
7: 140,218,355 (GRCm39) |
I247N |
possibly damaging |
Het |
| Or5ae2 |
T |
A |
7: 84,506,225 (GRCm39) |
I216N |
probably damaging |
Het |
| Or6d12 |
A |
T |
6: 116,493,626 (GRCm39) |
Y296F |
probably damaging |
Het |
| Peg3 |
T |
A |
7: 6,719,141 (GRCm39) |
D69V |
probably damaging |
Het |
| Pnp2 |
A |
G |
14: 51,196,992 (GRCm39) |
E26G |
probably benign |
Het |
| Pnpt1 |
T |
A |
11: 29,087,102 (GRCm39) |
C154S |
probably benign |
Het |
| Ppp1r26 |
C |
T |
2: 28,342,800 (GRCm39) |
T810I |
probably benign |
Het |
| Ppp2r5b |
A |
G |
19: 6,280,257 (GRCm39) |
S349P |
probably benign |
Het |
| Prdm4 |
C |
T |
10: 85,740,129 (GRCm39) |
V424I |
probably benign |
Het |
| Rraga |
A |
G |
4: 86,494,996 (GRCm39) |
I281V |
probably benign |
Het |
| Sall1 |
T |
C |
8: 89,759,510 (GRCm39) |
E198G |
probably damaging |
Het |
| Serpina9 |
T |
C |
12: 103,963,362 (GRCm39) |
D382G |
possibly damaging |
Het |
| Stt3b |
A |
G |
9: 115,095,260 (GRCm39) |
V257A |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,925,568 (GRCm39) |
Y225N |
possibly damaging |
Het |
| Tlr3 |
A |
G |
8: 45,851,202 (GRCm39) |
L41P |
probably damaging |
Het |
| Trappc12 |
A |
T |
12: 28,787,751 (GRCm39) |
V444E |
probably benign |
Het |
| Trim34a |
T |
A |
7: 103,897,287 (GRCm39) |
V117D |
possibly damaging |
Het |
| Ttbk1 |
A |
C |
17: 46,787,725 (GRCm39) |
M259R |
probably benign |
Het |
| Ttll12 |
A |
G |
15: 83,464,303 (GRCm39) |
V509A |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,581,273 (GRCm39) |
V3718M |
probably benign |
Het |
| Vps35 |
T |
A |
8: 86,014,429 (GRCm39) |
E73D |
probably damaging |
Het |
| Zfp790 |
C |
T |
7: 29,522,525 (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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTACCTGTGAAAGGGATGGAGACC -3'
(R):5'- TCGAGAGATCCTGCTGCAACTCTAC -3'
Sequencing Primer
(F):5'- ATGGAGACCCTCAGAGAGTCC -3'
(R):5'- CTGCAACTCTACAGGGAGC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation