Incidental Mutation 'R5246:Mup5'
| ID |
401146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mup5
|
| Ensembl Gene |
ENSMUSG00000058523 |
| Gene Name |
major urinary protein 5 |
| Synonyms |
Mup V |
| MMRRC Submission |
042817-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R5246 (G1)
|
| Quality Score |
121 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
61749556-61753417 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61752874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 50
(I50L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082287]
|
| AlphaFold |
P11591 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082287
AA Change: I50L
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000080908
Gene: ENSMUSG00000058523
AA Change: I50L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Lipocalin
|
34 |
173 |
8.3e-38 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
T |
A |
10: 14,302,509 (GRCm39) |
Y968F |
probably damaging |
Het |
| Bltp1 |
G |
A |
3: 37,102,199 (GRCm39) |
R1299Q |
probably damaging |
Het |
| Brwd1 |
G |
A |
16: 95,803,757 (GRCm39) |
P2138S |
probably damaging |
Het |
| Cdkl4 |
T |
A |
17: 80,846,913 (GRCm39) |
|
probably null |
Het |
| Cep55 |
T |
A |
19: 38,058,119 (GRCm39) |
D237E |
probably benign |
Het |
| Clhc1 |
T |
A |
11: 29,525,434 (GRCm39) |
S503T |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,079,671 (GRCm39) |
Y25C |
probably damaging |
Het |
| Eif3c |
G |
A |
7: 126,156,410 (GRCm39) |
T444I |
possibly damaging |
Het |
| Epb41l4b |
G |
T |
4: 57,040,989 (GRCm39) |
N491K |
probably damaging |
Het |
| Gm9776 |
A |
T |
13: 94,495,065 (GRCm39) |
|
probably benign |
Het |
| Lrcol1 |
A |
C |
5: 110,502,377 (GRCm39) |
E84D |
possibly damaging |
Het |
| Lrp1b |
A |
G |
2: 41,360,952 (GRCm39) |
|
probably null |
Het |
| Myo16 |
A |
T |
8: 10,612,212 (GRCm39) |
K1286* |
probably null |
Het |
| Pramel22 |
G |
T |
4: 143,382,127 (GRCm39) |
P190T |
probably benign |
Het |
| Prss46 |
T |
A |
9: 110,679,102 (GRCm39) |
V101D |
probably damaging |
Het |
| Rint1 |
T |
A |
5: 24,005,809 (GRCm39) |
W164R |
probably damaging |
Het |
| Rnf139 |
G |
A |
15: 58,771,552 (GRCm39) |
V526I |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,304,140 (GRCm39) |
D491V |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,305,036 (GRCm39) |
T790A |
possibly damaging |
Het |
| Scn8a |
T |
C |
15: 100,908,938 (GRCm39) |
L802P |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,936,646 (GRCm39) |
E435G |
probably benign |
Het |
| Sdk1 |
C |
A |
5: 142,100,317 (GRCm39) |
T1449K |
possibly damaging |
Het |
| Septin7 |
T |
A |
9: 25,210,832 (GRCm39) |
L289M |
probably damaging |
Het |
| Spry1 |
A |
G |
3: 37,696,916 (GRCm39) |
Y53C |
probably damaging |
Het |
| Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
| Tmcc1 |
A |
G |
6: 116,020,381 (GRCm39) |
V142A |
probably damaging |
Het |
| Vmn2r45 |
T |
G |
7: 8,486,251 (GRCm39) |
T346P |
probably benign |
Het |
| Wdr25 |
A |
G |
12: 108,993,382 (GRCm39) |
I533V |
probably benign |
Het |
| Zfp292 |
A |
C |
4: 34,805,842 (GRCm39) |
Y2401D |
possibly damaging |
Het |
|
| Other mutations in Mup5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0167:Mup5
|
UTSW |
4 |
61,752,019 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0485:Mup5
|
UTSW |
4 |
61,751,229 (GRCm39) |
splice site |
probably null |
|
|
R0547:Mup5
|
UTSW |
4 |
61,751,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1054:Mup5
|
UTSW |
4 |
61,750,871 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1597:Mup5
|
UTSW |
4 |
61,753,317 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1721:Mup5
|
UTSW |
4 |
61,750,607 (GRCm39) |
nonsense |
probably null |
|
|
R1772:Mup5
|
UTSW |
4 |
61,750,578 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1881:Mup5
|
UTSW |
4 |
61,752,868 (GRCm39) |
nonsense |
probably null |
|
|
R2104:Mup5
|
UTSW |
4 |
61,751,962 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2384:Mup5
|
UTSW |
4 |
61,753,261 (GRCm39) |
splice site |
probably null |
|
|
R4971:Mup5
|
UTSW |
4 |
61,751,297 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5926:Mup5
|
UTSW |
4 |
61,751,286 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6905:Mup5
|
UTSW |
4 |
61,751,340 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6912:Mup5
|
UTSW |
4 |
61,752,806 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6957:Mup5
|
UTSW |
4 |
61,751,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7204:Mup5
|
UTSW |
4 |
61,751,992 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7224:Mup5
|
UTSW |
4 |
61,750,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7244:Mup5
|
UTSW |
4 |
61,749,818 (GRCm39) |
splice site |
probably null |
|
|
R7570:Mup5
|
UTSW |
4 |
61,752,911 (GRCm39) |
nonsense |
probably null |
|
|
R8253:Mup5
|
UTSW |
4 |
61,752,811 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8465:Mup5
|
UTSW |
4 |
61,752,015 (GRCm39) |
missense |
probably benign |
|
|
R9048:Mup5
|
UTSW |
4 |
61,750,612 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9571:Mup5
|
UTSW |
4 |
61,750,787 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGCATACTGAGAGGCATC -3'
(R):5'- GTTCTCACTTAGAGGAAGGGAC -3'
Sequencing Primer
(F):5'- GAGGCATCTCTCCCTGCAAC -3'
(R):5'- TGTGACAACTGGCATGAGATCTACC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation