Incidental Mutation 'IGL01333:Mup6'
| ID |
74532 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mup6
|
| Ensembl Gene |
ENSMUSG00000078689 |
| Gene Name |
major urinary protein 6 |
| Synonyms |
Gm12544 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL01333
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
60003481-60007274 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60005529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 112
(F112S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103145
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107517]
[ENSMUST00000107520]
[ENSMUST00000107521]
|
| AlphaFold |
A2AV72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107517
AA Change: F120S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103141
Gene: ENSMUSG00000078689
AA Change: F120S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Lipocalin
|
33 |
172 |
1.6e-35 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107520
AA Change: F120S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103144
Gene: ENSMUSG00000078689
AA Change: F120S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Lipocalin
|
33 |
172 |
1.6e-35 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107521
AA Change: F112S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103145
Gene: ENSMUSG00000078689
AA Change: F112S
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
G |
T |
7: 119,981,531 (GRCm39) |
C995F |
probably damaging |
Het |
| Adamts7 |
G |
T |
9: 90,069,032 (GRCm39) |
G525C |
probably damaging |
Het |
| Akap1 |
T |
C |
11: 88,736,431 (GRCm39) |
E110G |
probably damaging |
Het |
| Ankrd7 |
A |
G |
6: 18,879,345 (GRCm39) |
H263R |
probably damaging |
Het |
| Cav3 |
T |
C |
6: 112,436,888 (GRCm39) |
|
probably null |
Het |
| Ccdc66 |
T |
C |
14: 27,215,272 (GRCm39) |
R423G |
possibly damaging |
Het |
| Cep76 |
C |
T |
18: 67,773,187 (GRCm39) |
R37Q |
probably benign |
Het |
| Chfr |
A |
G |
5: 110,291,439 (GRCm39) |
K86E |
possibly damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,927,887 (GRCm39) |
S369T |
probably benign |
Het |
| Hgf |
A |
T |
5: 16,781,939 (GRCm39) |
R221* |
probably null |
Het |
| Hspg2 |
T |
C |
4: 137,267,625 (GRCm39) |
Y2078H |
probably damaging |
Het |
| Kif22 |
A |
C |
7: 126,633,367 (GRCm39) |
V55G |
probably damaging |
Het |
| Mme |
T |
C |
3: 63,253,512 (GRCm39) |
I452T |
probably damaging |
Het |
| Mrpl41 |
T |
C |
2: 24,864,453 (GRCm39) |
N73S |
probably benign |
Het |
| Nktr |
A |
G |
9: 121,560,630 (GRCm39) |
I125V |
possibly damaging |
Het |
| Nup205 |
T |
C |
6: 35,217,998 (GRCm39) |
F1784L |
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,393,439 (GRCm39) |
D275G |
possibly damaging |
Het |
| Or4d11 |
G |
A |
19: 12,013,305 (GRCm39) |
T267I |
probably benign |
Het |
| Or5h19 |
T |
C |
16: 58,856,269 (GRCm39) |
Y277C |
probably damaging |
Het |
| Pde6c |
G |
A |
19: 38,164,143 (GRCm39) |
E666K |
probably benign |
Het |
| Pth2r |
A |
T |
1: 65,427,884 (GRCm39) |
D519V |
probably benign |
Het |
| Reln |
A |
T |
5: 22,376,249 (GRCm39) |
I169N |
probably damaging |
Het |
| Shoc1 |
T |
C |
4: 59,047,870 (GRCm39) |
N1250D |
possibly damaging |
Het |
| Slc25a13 |
A |
G |
6: 6,042,739 (GRCm39) |
|
probably null |
Het |
| Smg1 |
A |
G |
7: 117,762,601 (GRCm39) |
|
probably benign |
Het |
| Sp1 |
A |
G |
15: 102,339,364 (GRCm39) |
E434G |
probably damaging |
Het |
| Stt3b |
A |
T |
9: 115,086,612 (GRCm39) |
Y336N |
probably damaging |
Het |
| Vmn2r104 |
T |
A |
17: 20,263,055 (GRCm39) |
R135S |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,464,387 (GRCm39) |
T1515I |
probably damaging |
Het |
| Zfp280d |
A |
G |
9: 72,242,396 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mup6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01109:Mup6
|
APN |
4 |
60,006,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01608:Mup6
|
APN |
4 |
60,006,021 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02471:Mup6
|
APN |
4 |
60,003,971 (GRCm39) |
splice site |
probably benign |
|
|
IGL02932:Mup6
|
APN |
4 |
60,006,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03070:Mup6
|
APN |
4 |
60,003,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03108:Mup6
|
APN |
4 |
60,005,990 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03158:Mup6
|
APN |
4 |
60,005,480 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0122:Mup6
|
UTSW |
4 |
60,003,995 (GRCm39) |
nonsense |
probably null |
|
|
R1271:Mup6
|
UTSW |
4 |
60,003,579 (GRCm39) |
intron |
probably benign |
|
|
R3434:Mup6
|
UTSW |
4 |
60,004,116 (GRCm39) |
splice site |
probably null |
|
|
R3435:Mup6
|
UTSW |
4 |
60,004,116 (GRCm39) |
splice site |
probably null |
|
|
R4258:Mup6
|
UTSW |
4 |
60,004,812 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4465:Mup6
|
UTSW |
4 |
60,004,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4466:Mup6
|
UTSW |
4 |
60,004,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5021:Mup6
|
UTSW |
4 |
59,964,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5272:Mup6
|
UTSW |
4 |
60,005,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6396:Mup6
|
UTSW |
4 |
60,004,837 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6861:Mup6
|
UTSW |
4 |
60,004,093 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7818:Mup6
|
UTSW |
4 |
60,004,884 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8238:Mup6
|
UTSW |
4 |
60,003,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9294:Mup6
|
UTSW |
4 |
60,004,838 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Posted On |
2013-10-07 |
Incidental Mutation