Incidental Mutation 'IGL03158:Mup6'
| ID |
411326 |
| 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: 0.065)
|
| Stock # |
IGL03158
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
60003481-60007274 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 60005480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 104
(F104I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103144
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107517]
[ENSMUST00000107520]
[ENSMUST00000107521]
|
| AlphaFold |
A2AV72 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107517
AA Change: F104I
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103141
Gene: ENSMUSG00000078689
AA Change: F104I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Lipocalin
|
33 |
172 |
1.6e-35 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107520
AA Change: F104I
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103144
Gene: ENSMUSG00000078689
AA Change: F104I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Lipocalin
|
33 |
172 |
1.6e-35 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107521
AA Change: F96I
PolyPhen 2
Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103145
Gene: ENSMUSG00000078689
AA Change: F96I
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc5 |
T |
C |
5: 122,955,960 (GRCm39) |
T157A |
probably benign |
Het |
| Brms1l |
A |
G |
12: 55,883,320 (GRCm39) |
E11G |
possibly damaging |
Het |
| C2cd3 |
A |
G |
7: 100,023,683 (GRCm39) |
T90A |
probably damaging |
Het |
| Eml5 |
A |
T |
12: 98,793,773 (GRCm39) |
|
probably benign |
Het |
| Fgl1 |
A |
T |
8: 41,662,810 (GRCm39) |
H58Q |
probably benign |
Het |
| Ipo5 |
T |
C |
14: 121,179,303 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
C |
13: 13,826,337 (GRCm39) |
|
probably null |
Het |
| Map1s |
T |
C |
8: 71,367,378 (GRCm39) |
L761P |
probably damaging |
Het |
| Mup21 |
T |
C |
4: 62,068,525 (GRCm39) |
E47G |
probably benign |
Het |
| Or5w12 |
G |
A |
2: 87,502,135 (GRCm39) |
T192I |
probably benign |
Het |
| Or6c3b |
T |
A |
10: 129,527,587 (GRCm39) |
T108S |
probably benign |
Het |
| Pdcd11 |
A |
T |
19: 47,116,500 (GRCm39) |
D1550V |
possibly damaging |
Het |
| Prex2 |
C |
A |
1: 11,336,291 (GRCm39) |
S1496R |
possibly damaging |
Het |
| Prpf4 |
A |
G |
4: 62,334,256 (GRCm39) |
H237R |
probably benign |
Het |
| Pygl |
G |
T |
12: 70,242,449 (GRCm39) |
T578K |
probably damaging |
Het |
| Rem2 |
A |
G |
14: 54,716,415 (GRCm39) |
D176G |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,680,833 (GRCm39) |
V2143A |
probably benign |
Het |
| Wdr4 |
T |
C |
17: 31,718,102 (GRCm39) |
Q324R |
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 |
|
IGL01333:Mup6
|
APN |
4 |
60,005,529 (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 |
|
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 |
2016-08-02 |
Incidental Mutation