Incidental Mutation 'IGL03282:Mup4'
ID |
415611 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mup4
|
Ensembl Gene |
ENSMUSG00000041333 |
Gene Name |
major urinary protein 4 |
Synonyms |
Mup-4 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
IGL03282
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
59956804-59960667 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 59958547 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 118
(M118L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075356
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075973]
|
AlphaFold |
P11590 |
PDB Structure |
Major mouse urinary protein IV complexed with 2-sec-butyl-4,5-dihydrothiazole [X-RAY DIFFRACTION]
Major mouse urinary protein IV complexed with 2-heptanone [X-RAY DIFFRACTION]
Major mouse urinary protein IV complexed with 2-ethylhexanol [X-RAY DIFFRACTION]
Major mouse urinary protein IV complexed with 2,5-dimethylpyrazine [X-RAY DIFFRACTION]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075973
AA Change: M118L
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000075356 Gene: ENSMUSG00000041333 AA Change: M118L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:Lipocalin
|
32 |
171 |
8.6e-38 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atl1 |
A |
G |
12: 70,001,238 (GRCm39) |
I333M |
possibly damaging |
Het |
Atxn2 |
A |
G |
5: 121,923,298 (GRCm39) |
T52A |
probably benign |
Het |
Atxn7 |
T |
A |
14: 14,100,564 (GRCm38) |
L750H |
probably damaging |
Het |
Cadps |
T |
C |
14: 12,465,856 (GRCm38) |
|
probably benign |
Het |
Cts6 |
T |
A |
13: 61,344,261 (GRCm39) |
I264F |
possibly damaging |
Het |
Dnah6 |
G |
T |
6: 73,030,630 (GRCm39) |
|
probably benign |
Het |
Epg5 |
A |
G |
18: 78,029,641 (GRCm39) |
S1335G |
probably benign |
Het |
Gm10073 |
A |
T |
8: 107,299,972 (GRCm39) |
V4D |
probably benign |
Het |
Gpld1 |
T |
A |
13: 25,155,391 (GRCm39) |
M342K |
probably benign |
Het |
Herc1 |
T |
A |
9: 66,358,741 (GRCm39) |
F2607L |
probably benign |
Het |
Ighv2-9-1 |
T |
C |
12: 113,733,485 (GRCm39) |
Y112C |
probably damaging |
Het |
Itga4 |
A |
T |
2: 79,155,938 (GRCm39) |
H968L |
probably damaging |
Het |
Me1 |
C |
T |
9: 86,495,649 (GRCm39) |
R286Q |
probably damaging |
Het |
Med1 |
G |
A |
11: 98,047,643 (GRCm39) |
T1051M |
probably damaging |
Het |
Msh2 |
T |
G |
17: 87,996,430 (GRCm39) |
D379E |
probably benign |
Het |
Ostm1 |
A |
T |
10: 42,574,227 (GRCm39) |
S152C |
probably damaging |
Het |
Pla2g1b |
A |
G |
5: 115,608,939 (GRCm39) |
N45D |
probably damaging |
Het |
Rab21 |
A |
G |
10: 115,134,803 (GRCm39) |
|
probably benign |
Het |
Rapgef4 |
G |
A |
2: 72,036,096 (GRCm39) |
|
probably benign |
Het |
Slc38a8 |
G |
T |
8: 120,226,455 (GRCm39) |
N111K |
probably damaging |
Het |
Snrnp35 |
A |
G |
5: 124,628,372 (GRCm39) |
T62A |
probably damaging |
Het |
Strn3 |
T |
C |
12: 51,673,992 (GRCm39) |
I540V |
probably benign |
Het |
Tgm1 |
A |
G |
14: 55,948,527 (GRCm39) |
V208A |
probably damaging |
Het |
Vmn1r62 |
A |
T |
7: 5,678,547 (GRCm39) |
D76V |
possibly damaging |
Het |
Vmn1r90 |
T |
A |
7: 14,295,426 (GRCm39) |
H224L |
probably benign |
Het |
Vmn1r90 |
A |
T |
7: 14,296,093 (GRCm39) |
S2T |
possibly damaging |
Het |
|
Other mutations in Mup4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01550:Mup4
|
APN |
4 |
59,960,120 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02956:Mup4
|
APN |
4 |
59,959,263 (GRCm39) |
missense |
probably benign |
0.08 |
IGL03017:Mup4
|
APN |
4 |
59,957,890 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03139:Mup4
|
APN |
4 |
59,958,482 (GRCm39) |
splice site |
probably benign |
|
marine
|
UTSW |
4 |
59,960,622 (GRCm39) |
unclassified |
probably benign |
|
R1440:Mup4
|
UTSW |
4 |
59,958,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R1462:Mup4
|
UTSW |
4 |
59,960,084 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1462:Mup4
|
UTSW |
4 |
59,960,084 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1721:Mup4
|
UTSW |
4 |
59,960,598 (GRCm39) |
start codon destroyed |
probably null |
|
R2067:Mup4
|
UTSW |
4 |
59,960,622 (GRCm39) |
unclassified |
probably benign |
|
R2302:Mup4
|
UTSW |
4 |
59,960,702 (GRCm39) |
splice site |
probably null |
|
R2403:Mup4
|
UTSW |
4 |
59,958,145 (GRCm39) |
missense |
probably damaging |
0.98 |
R3431:Mup4
|
UTSW |
4 |
59,959,192 (GRCm39) |
splice site |
probably null |
|
R4487:Mup4
|
UTSW |
4 |
59,960,547 (GRCm39) |
missense |
probably damaging |
0.98 |
R5028:Mup4
|
UTSW |
4 |
59,958,124 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5208:Mup4
|
UTSW |
4 |
59,958,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R5430:Mup4
|
UTSW |
4 |
59,960,044 (GRCm39) |
missense |
probably damaging |
0.98 |
R6255:Mup4
|
UTSW |
4 |
59,957,890 (GRCm39) |
missense |
probably damaging |
0.99 |
R6304:Mup4
|
UTSW |
4 |
59,960,084 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6745:Mup4
|
UTSW |
4 |
59,960,091 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7326:Mup4
|
UTSW |
4 |
59,960,046 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7606:Mup4
|
UTSW |
4 |
59,958,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R8733:Mup4
|
UTSW |
4 |
59,958,587 (GRCm39) |
missense |
probably damaging |
0.99 |
X0026:Mup4
|
UTSW |
4 |
59,960,559 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
Posted On |
2016-08-02 |