Incidental Mutation 'R6037:Mus81'
ID | 486655 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mus81
|
Ensembl Gene |
ENSMUSG00000024906 |
Gene Name | MUS81 structure-specific endonuclease subunit |
Synonyms | |
MMRRC Submission |
043258-MU
|
Accession Numbers | |
Is this an essential gene? |
Possibly non essential (E-score: 0.305)
|
Stock # | R6037 (G1)
|
Quality Score | 225.009 |
Status |
Not validated
|
Chromosome | 19 |
Chromosomal Location | 5482345-5488402 bp(-) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
T to C
at 5484004 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 400
(K400E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025841]
[ENSMUST00000070118]
[ENSMUST00000124334]
[ENSMUST00000126471]
[ENSMUST00000165485]
[ENSMUST00000167371]
[ENSMUST00000167827]
[ENSMUST00000166253]
[ENSMUST00000168330]
|
PDB Structure |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025841
AA Change: K400E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025841 Gene: ENSMUSG00000024906 AA Change: K400E
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: K400E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114895 Gene: ENSMUSG00000024906 AA Change: K400E
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: K364E
|
SMART Domains |
Protein: ENSMUSP00000118580 Gene: ENSMUSG00000024906 AA Change: K364E
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: 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: 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: ENSMUST00000168330
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,426,349 |
V173M |
probably damaging |
Het |
Abi2 |
C |
A |
1: 60,464,579 |
P212T |
probably damaging |
Het |
Ano4 |
A |
G |
10: 89,317,246 |
F68S |
possibly damaging |
Het |
Art5 |
C |
A |
7: 102,098,384 |
A63S |
probably benign |
Het |
Asgr1 |
T |
A |
11: 70,056,421 |
S96R |
probably benign |
Het |
Bdp1 |
A |
T |
13: 100,027,449 |
V2248D |
possibly damaging |
Het |
Cacna1s |
C |
T |
1: 136,070,967 |
A200V |
possibly damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,513,539 |
K357E |
probably damaging |
Het |
Cfap52 |
C |
T |
11: 67,946,300 |
G212R |
probably benign |
Het |
Dcun1d3 |
A |
G |
7: 119,857,742 |
F249S |
probably damaging |
Het |
Ece2 |
A |
G |
16: 20,630,362 |
Y17C |
probably damaging |
Het |
Efemp1 |
C |
T |
11: 28,921,760 |
T425I |
probably damaging |
Het |
Eprs |
A |
G |
1: 185,396,109 |
E562G |
probably damaging |
Het |
Fbn2 |
T |
C |
18: 58,044,223 |
T2001A |
probably benign |
Het |
Flt4 |
G |
A |
11: 49,637,040 |
R940H |
probably damaging |
Het |
Fry |
T |
A |
5: 150,428,179 |
M1716K |
probably benign |
Het |
Gm10684 |
T |
A |
9: 45,107,741 |
|
probably benign |
Het |
Gm281 |
T |
C |
14: 13,864,282 |
N348S |
probably damaging |
Het |
Hivep1 |
G |
A |
13: 42,157,940 |
V1219I |
probably damaging |
Het |
Hyls1 |
G |
A |
9: 35,561,184 |
S312F |
probably benign |
Het |
Il23r |
C |
T |
6: 67,478,954 |
V177M |
probably damaging |
Het |
Klf12 |
T |
C |
14: 99,900,214 |
S299G |
probably benign |
Het |
Lama5 |
G |
A |
2: 180,207,013 |
R265C |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,186,943 |
T800A |
probably damaging |
Het |
Megf8 |
T |
C |
7: 25,364,406 |
L2729P |
probably damaging |
Het |
Mki67 |
A |
C |
7: 135,696,803 |
S2167R |
possibly damaging |
Het |
Nomo1 |
T |
A |
7: 46,062,999 |
I656N |
possibly damaging |
Het |
Oas3 |
T |
C |
5: 120,769,319 |
T418A |
probably benign |
Het |
Olfr1034 |
T |
C |
2: 86,046,584 |
M34T |
probably benign |
Het |
Olfr1066 |
T |
A |
2: 86,455,789 |
I161L |
probably benign |
Het |
Olfr147 |
T |
A |
9: 38,403,305 |
C144S |
probably benign |
Het |
Olfr301 |
C |
T |
7: 86,413,270 |
L303F |
probably benign |
Het |
Olfr936 |
A |
G |
9: 39,047,107 |
V104A |
probably damaging |
Het |
Olr1 |
A |
G |
6: 129,493,541 |
L221P |
probably damaging |
Het |
Pih1d1 |
C |
T |
7: 45,156,314 |
A69V |
probably damaging |
Het |
Pkdrej |
A |
C |
15: 85,819,766 |
S656R |
probably damaging |
Het |
Polr3f |
A |
G |
2: 144,536,023 |
D171G |
probably damaging |
Het |
Rasal1 |
T |
C |
5: 120,649,501 |
V11A |
possibly damaging |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,579,909 |
|
probably benign |
Homo |
Sptbn4 |
T |
A |
7: 27,364,170 |
Y2277F |
probably damaging |
Het |
St6galnac6 |
A |
G |
2: 32,612,228 |
Q7R |
probably damaging |
Het |
Thrsp |
T |
G |
7: 97,417,292 |
D71A |
possibly damaging |
Het |
Vmn2r1 |
C |
A |
3: 64,081,729 |
Q30K |
probably benign |
Het |
Wipf2 |
C |
T |
11: 98,896,179 |
P345S |
probably benign |
Het |
Zeb2 |
G |
T |
2: 44,988,640 |
S1170* |
probably null |
Het |
Zfp947 |
A |
G |
17: 22,147,434 |
Y38H |
probably damaging |
Het |
|
Other mutations in Mus81 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02120:Mus81
|
APN |
19 |
5485633 |
unclassified |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCTCTGAAGACTAAGCCC -3'
(R):5'- ACTTAGTGGAAGAACATGGGTC -3'
Sequencing Primer
(F):5'- TTTCCCAGGCCTCAGTAGG -3'
(R):5'- ACATGGGTCTGTCCACAACCTTAG -3'
|
Posted On | 2017-08-16 |