Incidental Mutation 'IGL03017:Mup4'
| ID |
407917 |
| 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 # |
IGL03017
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
59956804-59960667 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59957890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 171
(N171I)
|
| 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 |
probably damaging
Transcript: ENSMUST00000075973
AA Change: N171I
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000075356
Gene: ENSMUSG00000041333
AA Change: N171I
| 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 |
|---|
| Arhgef11 |
C |
A |
3: 87,624,367 (GRCm39) |
Y519* |
probably null |
Het |
| Arhgef26 |
T |
A |
3: 62,355,702 (GRCm39) |
M758K |
possibly damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,170,978 (GRCm39) |
Y500C |
probably benign |
Het |
| Cul5 |
A |
T |
9: 53,555,785 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
C |
15: 28,340,471 (GRCm39) |
I2293L |
possibly damaging |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Gpr45 |
C |
T |
1: 43,071,516 (GRCm39) |
T53M |
possibly damaging |
Het |
| Hoxd3 |
T |
A |
2: 74,577,050 (GRCm39) |
M310K |
possibly damaging |
Het |
| Mtr |
A |
G |
13: 12,262,777 (GRCm39) |
|
probably null |
Het |
| Myo15b |
T |
A |
11: 115,778,743 (GRCm39) |
I1157N |
possibly damaging |
Het |
| Myo1d |
C |
T |
11: 80,492,452 (GRCm39) |
V768I |
probably benign |
Het |
| Nlrp4c |
T |
C |
7: 6,087,679 (GRCm39) |
C771R |
probably benign |
Het |
| Or1e30 |
C |
A |
11: 73,678,344 (GRCm39) |
H193Q |
probably benign |
Het |
| Patj |
G |
A |
4: 98,353,264 (GRCm39) |
|
probably benign |
Het |
| Pkp3 |
C |
A |
7: 140,663,283 (GRCm39) |
A376D |
probably benign |
Het |
| Pkp4 |
T |
C |
2: 59,096,769 (GRCm39) |
V57A |
probably benign |
Het |
| Poteg |
A |
T |
8: 27,952,069 (GRCm39) |
K232N |
probably benign |
Het |
| Psat1 |
G |
T |
19: 15,894,499 (GRCm39) |
A168E |
possibly damaging |
Het |
| Rassf8 |
T |
A |
6: 145,762,924 (GRCm39) |
|
probably null |
Het |
| Slc37a3 |
T |
A |
6: 39,326,315 (GRCm39) |
I281L |
probably benign |
Het |
| Sncaip |
A |
T |
18: 53,028,009 (GRCm39) |
H466L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,698,646 (GRCm39) |
T30A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,617,460 (GRCm39) |
E16337G |
probably damaging |
Het |
| Usp13 |
G |
A |
3: 32,969,861 (GRCm39) |
M662I |
possibly damaging |
Het |
| Vmn2r111 |
A |
T |
17: 22,789,839 (GRCm39) |
M389K |
probably damaging |
Het |
| Vmn2r39 |
A |
C |
7: 9,017,940 (GRCm39) |
Y799D |
probably 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 |
|
IGL03139:Mup4
|
APN |
4 |
59,958,482 (GRCm39) |
splice site |
probably benign |
|
|
IGL03282:Mup4
|
APN |
4 |
59,958,547 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
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 |
Incidental Mutation