Incidental Mutation 'R4487:Mup4'
| ID |
331653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mup4
|
| Ensembl Gene |
ENSMUSG00000041333 |
| Gene Name |
major urinary protein 4 |
| Synonyms |
Mup-4 |
| MMRRC Submission |
041743-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R4487 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
59956804-59960667 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59960547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 18
(E18V)
|
| 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: E18V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000075356
Gene: ENSMUSG00000041333
AA Change: E18V
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310030G06Rik |
A |
G |
9: 50,651,931 (GRCm39) |
L99P |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,062,486 (GRCm39) |
V484A |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,588,185 (GRCm39) |
I4467T |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,892,622 (GRCm39) |
D1500E |
possibly damaging |
Het |
| C1ql2 |
A |
T |
1: 120,269,409 (GRCm39) |
Y188F |
possibly damaging |
Het |
| Cnga2 |
T |
A |
X: 71,049,733 (GRCm39) |
F133I |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 133,801,512 (GRCm39) |
S891P |
probably benign |
Het |
| Hao2 |
T |
A |
3: 98,789,341 (GRCm39) |
I116F |
probably damaging |
Het |
| Htr1b |
A |
T |
9: 81,513,592 (GRCm39) |
D338E |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kif9 |
A |
G |
9: 110,323,552 (GRCm39) |
E225G |
probably null |
Het |
| Krt76 |
T |
C |
15: 101,798,917 (GRCm39) |
K256R |
possibly damaging |
Het |
| Mapk4 |
T |
C |
18: 74,064,046 (GRCm39) |
D392G |
probably damaging |
Het |
| Mthfr |
A |
G |
4: 148,135,884 (GRCm39) |
K278R |
probably benign |
Het |
| Nepro |
A |
G |
16: 44,556,089 (GRCm39) |
K416E |
probably damaging |
Het |
| Ngf |
G |
A |
3: 102,428,015 (GRCm39) |
D255N |
probably damaging |
Het |
| Nmu |
A |
G |
5: 76,491,909 (GRCm39) |
|
probably null |
Het |
| Nt5m |
A |
G |
11: 59,739,173 (GRCm39) |
Y73C |
probably damaging |
Het |
| Oaz3 |
A |
T |
3: 94,342,437 (GRCm39) |
|
probably null |
Het |
| Pgap1 |
A |
G |
1: 54,567,751 (GRCm39) |
S365P |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pus7l |
A |
G |
15: 94,429,498 (GRCm39) |
I440T |
possibly damaging |
Het |
| Raph1 |
C |
T |
1: 60,542,028 (GRCm39) |
S362N |
possibly damaging |
Het |
| Rftn2 |
A |
G |
1: 55,241,311 (GRCm39) |
Y330H |
possibly damaging |
Het |
| Rhot2 |
G |
A |
17: 26,058,467 (GRCm39) |
H580Y |
probably benign |
Het |
| Rnase2a |
A |
T |
14: 51,493,302 (GRCm39) |
M21K |
unknown |
Het |
| Rusf1 |
T |
C |
7: 127,887,530 (GRCm39) |
D24G |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Snx1 |
A |
T |
9: 65,996,877 (GRCm39) |
V459E |
possibly damaging |
Het |
| Suz12 |
A |
G |
11: 79,922,939 (GRCm39) |
T694A |
probably benign |
Het |
| Tg |
G |
A |
15: 66,543,245 (GRCm39) |
C53Y |
probably damaging |
Het |
| Tor1aip1 |
G |
T |
1: 155,882,870 (GRCm39) |
T326K |
probably damaging |
Het |
| Vmn1r61 |
C |
A |
7: 5,613,924 (GRCm39) |
C130F |
possibly damaging |
Het |
| Xlr5b |
T |
C |
X: 72,201,504 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGTCTTACTTCAAGGTCTGGAG -3'
(R):5'- TTCCACAAAGCCTGACAGAGG -3'
Sequencing Primer
(F):5'- ACTTCAAGGTCTGGAGCCATTC -3'
(R):5'- CCTGACAGACAGACAATTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation