Incidental Mutation 'IGL01550:Mup4'
| ID |
90564 |
| 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 # |
IGL01550
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
59956804-59960667 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59960120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 48
(I48K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075973]
[ENSMUST00000107521]
|
| 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: I48K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075356
Gene: ENSMUSG00000041333
AA Change: I48K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Lipocalin
|
32 |
171 |
8.6e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107521
|
| SMART Domains |
Protein: ENSMUSP00000103145
Gene: ENSMUSG00000078689
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipocalin
|
25 |
164 |
1.4e-35 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
T |
G |
11: 3,887,974 (GRCm39) |
R137S |
unknown |
Het |
| Epha8 |
G |
T |
4: 136,659,051 (GRCm39) |
Q868K |
possibly damaging |
Het |
| Erc1 |
T |
A |
6: 119,760,355 (GRCm39) |
M386L |
probably damaging |
Het |
| Gfpt2 |
T |
A |
11: 49,715,150 (GRCm39) |
|
probably null |
Het |
| Gpr142 |
T |
A |
11: 114,695,152 (GRCm39) |
L39Q |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,474,148 (GRCm39) |
W4765R |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,314,264 (GRCm39) |
E3603V |
possibly damaging |
Het |
| Hsp90b1 |
C |
T |
10: 86,540,234 (GRCm39) |
D26N |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,486,274 (GRCm39) |
T4760A |
probably damaging |
Het |
| Lmo7 |
C |
A |
14: 102,163,576 (GRCm39) |
|
probably benign |
Het |
| Mylk3 |
T |
A |
8: 86,091,718 (GRCm39) |
D29V |
probably damaging |
Het |
| Myo1b |
A |
G |
1: 51,823,690 (GRCm39) |
F405S |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,712,669 (GRCm39) |
D2136G |
possibly damaging |
Het |
| Or1l4b |
A |
T |
2: 37,036,986 (GRCm39) |
Y254F |
probably damaging |
Het |
| Or52a20 |
T |
G |
7: 103,366,204 (GRCm39) |
H134Q |
probably damaging |
Het |
| Or5g27 |
T |
A |
2: 85,409,875 (GRCm39) |
C97* |
probably null |
Het |
| Or7e175 |
A |
T |
9: 20,048,750 (GRCm39) |
T113S |
probably damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Rpp40 |
T |
C |
13: 36,090,183 (GRCm39) |
|
probably null |
Het |
| Samd7 |
T |
A |
3: 30,819,399 (GRCm39) |
S383T |
probably damaging |
Het |
| Tbc1d10c |
T |
C |
19: 4,234,823 (GRCm39) |
T413A |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,509,535 (GRCm39) |
L905P |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,701,828 (GRCm39) |
K643R |
probably benign |
Het |
| Vmn2r124 |
T |
C |
17: 18,283,617 (GRCm39) |
|
probably null |
Het |
| Vwf |
A |
T |
6: 125,656,252 (GRCm39) |
I2606F |
probably benign |
Het |
| Wbp4 |
T |
C |
14: 79,703,774 (GRCm39) |
T258A |
probably benign |
Het |
| Zfp1005 |
T |
A |
2: 150,108,363 (GRCm39) |
|
probably benign |
Het |
| Zfp758 |
T |
C |
17: 22,594,021 (GRCm39) |
L137S |
probably damaging |
Het |
|
| Other mutations in Mup4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-12-09 |
Incidental Mutation