Incidental Mutation 'R7100:Mus81'
| ID |
550792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mus81
|
| Ensembl Gene |
ENSMUSG00000024906 |
| Gene Name |
MUS81 structure-specific endonuclease subunit |
| Synonyms |
1200008A18Rik |
| MMRRC Submission |
045192-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.316)
|
| Stock # |
R7100 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5532589-5538461 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 5534239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 360
(G360S)
|
| 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: G360S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025841
Gene: ENSMUSG00000024906
AA Change: G360S
| 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: G360S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114895
Gene: ENSMUSG00000024906
AA Change: G360S
| 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: G324S
| 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
|
| Meta Mutation Damage Score |
0.5197 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (54/55) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl10 |
A |
G |
2: 154,394,315 (GRCm39) |
E89G |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,419,016 (GRCm39) |
V5993E |
probably damaging |
Het |
| Amdhd1 |
T |
C |
10: 93,372,936 (GRCm39) |
|
probably null |
Het |
| Amph |
T |
C |
13: 19,334,011 (GRCm39) |
*691Q |
probably null |
Het |
| Ankrd55 |
A |
G |
13: 112,492,644 (GRCm39) |
K272E |
probably benign |
Het |
| Arhgef10l |
C |
T |
4: 140,244,126 (GRCm39) |
V838I |
possibly damaging |
Het |
| Arl2 |
C |
A |
19: 6,184,774 (GRCm39) |
V160F |
probably benign |
Het |
| Catsperb |
T |
C |
12: 101,412,297 (GRCm39) |
V128A |
possibly damaging |
Het |
| Cdk11b |
T |
A |
4: 155,710,050 (GRCm39) |
L17H |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,480,314 (GRCm39) |
N1391K |
possibly damaging |
Het |
| Cpxm2 |
C |
T |
7: 131,656,544 (GRCm39) |
A573T |
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,455,501 (GRCm39) |
F516I |
|
Het |
| Daxx |
T |
C |
17: 34,130,416 (GRCm39) |
S144P |
probably damaging |
Het |
| Dpp3 |
T |
C |
19: 4,968,069 (GRCm39) |
D303G |
probably damaging |
Het |
| Fam181a |
T |
A |
12: 103,282,132 (GRCm39) |
N12K |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,111,018 (GRCm39) |
R1015S |
unknown |
Het |
| Fstl5 |
A |
G |
3: 76,443,600 (GRCm39) |
H315R |
probably benign |
Het |
| Fut4 |
A |
G |
9: 14,662,689 (GRCm39) |
S202P |
probably damaging |
Het |
| Gm5114 |
T |
C |
7: 39,057,708 (GRCm39) |
D637G |
possibly damaging |
Het |
| Gstcd |
G |
T |
3: 132,790,704 (GRCm39) |
T21K |
probably benign |
Het |
| Heca |
C |
T |
10: 17,791,121 (GRCm39) |
V312M |
probably benign |
Het |
| Herpud1 |
A |
G |
8: 95,117,475 (GRCm39) |
R144G |
probably damaging |
Het |
| Hycc2 |
T |
A |
1: 58,573,653 (GRCm39) |
T384S |
possibly damaging |
Het |
| Ino80 |
A |
G |
2: 119,204,994 (GRCm39) |
S1511P |
possibly damaging |
Het |
| Irf2bp2 |
T |
C |
8: 127,318,472 (GRCm39) |
T365A |
probably benign |
Het |
| Klk1 |
G |
A |
7: 43,878,848 (GRCm39) |
G214E |
probably damaging |
Het |
| Lama3 |
A |
T |
18: 12,715,701 (GRCm39) |
N1719I |
possibly damaging |
Het |
| Lmna |
A |
G |
3: 88,392,297 (GRCm39) |
I365T |
probably damaging |
Het |
| Lrp8 |
C |
A |
4: 107,659,647 (GRCm39) |
A13E |
possibly damaging |
Het |
| Ly75 |
A |
G |
2: 60,136,778 (GRCm39) |
L1483P |
probably benign |
Het |
| Maco1 |
T |
C |
4: 134,533,971 (GRCm39) |
D550G |
probably damaging |
Het |
| Mid1 |
A |
G |
X: 168,768,073 (GRCm39) |
D407G |
probably benign |
Het |
| Mpl |
G |
T |
4: 118,314,607 (GRCm39) |
A21E |
|
Het |
| Nmt2 |
T |
A |
2: 3,313,950 (GRCm39) |
S250T |
probably benign |
Het |
| Nr1d1 |
C |
A |
11: 98,662,160 (GRCm39) |
R158L |
probably damaging |
Het |
| Pcgf6 |
G |
A |
19: 47,039,153 (GRCm39) |
P36S |
unknown |
Het |
| Pcnx2 |
G |
A |
8: 126,485,853 (GRCm39) |
A1915V |
probably benign |
Het |
| Peak1 |
A |
G |
9: 56,166,677 (GRCm39) |
V417A |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,476,689 (GRCm39) |
N262S |
probably benign |
Het |
| Plaat5 |
T |
A |
19: 7,616,923 (GRCm39) |
F313I |
unknown |
Het |
| Ppp2r5d |
A |
G |
17: 46,996,608 (GRCm39) |
V355A |
probably benign |
Het |
| Rasa3 |
T |
C |
8: 13,636,897 (GRCm39) |
T395A |
probably benign |
Het |
| Rims1 |
T |
A |
1: 22,416,697 (GRCm39) |
I432F |
probably benign |
Het |
| Rnf123 |
C |
T |
9: 107,933,838 (GRCm39) |
C1080Y |
probably damaging |
Het |
| Serpina3g |
T |
C |
12: 104,204,570 (GRCm39) |
|
probably benign |
Het |
| Shank2 |
T |
A |
7: 143,964,901 (GRCm39) |
D836E |
possibly damaging |
Het |
| Slc24a5 |
A |
C |
2: 124,922,591 (GRCm39) |
S118R |
probably damaging |
Het |
| Smg1 |
G |
T |
7: 117,783,743 (GRCm39) |
H1048N |
unknown |
Het |
| Specc1l |
T |
G |
10: 75,081,329 (GRCm39) |
S242A |
probably benign |
Het |
| Tagap1 |
A |
T |
17: 7,224,111 (GRCm39) |
L195Q |
possibly damaging |
Het |
| Trpc3 |
C |
A |
3: 36,704,216 (GRCm39) |
E580D |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,541,166 (GRCm39) |
V33940E |
probably benign |
Het |
| Upp2 |
G |
T |
2: 58,681,817 (GRCm39) |
R318L |
probably benign |
Het |
| Vezt |
T |
A |
10: 93,832,795 (GRCm39) |
E205D |
probably benign |
Het |
| Vmn1r177 |
A |
G |
7: 23,565,535 (GRCm39) |
F114L |
probably benign |
Het |
| Vmn2r53 |
C |
A |
7: 12,315,513 (GRCm39) |
E769* |
probably null |
Het |
| Vnn3 |
T |
C |
10: 23,741,840 (GRCm39) |
Y382H |
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 |
|
|
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 |
|
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'- GCCATCAATGACCTGGAGAAG -3'
(R):5'- TTCCTACAGGACCAGAGCCTAG -3'
Sequencing Primer
(F):5'- CCATCAATGACCTGGAGAAGAAGAC -3'
(R):5'- ATTTCTGAGTTCCAGGACAGCCAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation