Incidental Mutation 'IGL03070:Mup6'
ID |
417472 |
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 # |
IGL03070
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
60003481-60007274 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 60003999 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 31
(I31F)
|
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: I39F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000103141 Gene: ENSMUSG00000078689 AA Change: I39F
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: I39F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000103144 Gene: ENSMUSG00000078689 AA Change: I39F
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: I31F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103145 Gene: ENSMUSG00000078689 AA Change: I31F
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
T |
C |
8: 25,193,800 (GRCm39) |
E404G |
probably damaging |
Het |
Arid1a |
A |
G |
4: 133,422,064 (GRCm39) |
S778P |
unknown |
Het |
Asah2 |
A |
T |
19: 31,983,744 (GRCm39) |
Y567N |
probably damaging |
Het |
Crb1 |
G |
T |
1: 139,168,996 (GRCm39) |
H841N |
possibly damaging |
Het |
Ehbp1l1 |
A |
G |
19: 5,765,981 (GRCm39) |
V1454A |
probably benign |
Het |
Eif3d |
A |
G |
15: 77,843,843 (GRCm39) |
L501P |
probably damaging |
Het |
Fbxo4 |
A |
T |
15: 4,007,344 (GRCm39) |
S107T |
possibly damaging |
Het |
Galnt10 |
T |
C |
11: 57,616,408 (GRCm39) |
Y108H |
probably damaging |
Het |
Hspbap1 |
T |
A |
16: 35,639,096 (GRCm39) |
D263E |
probably damaging |
Het |
Kpna3 |
T |
C |
14: 61,608,231 (GRCm39) |
|
probably benign |
Het |
Miox |
A |
G |
15: 89,220,287 (GRCm39) |
T160A |
possibly damaging |
Het |
Mlxipl |
G |
A |
5: 135,161,307 (GRCm39) |
V409M |
possibly damaging |
Het |
Mrps21 |
A |
T |
3: 95,777,897 (GRCm39) |
|
probably benign |
Het |
Muc6 |
A |
G |
7: 141,230,834 (GRCm39) |
|
probably benign |
Het |
Or52s1 |
A |
G |
7: 102,861,904 (GRCm39) |
H279R |
probably benign |
Het |
Pabir1 |
A |
C |
19: 24,454,316 (GRCm39) |
D135E |
probably damaging |
Het |
Pgr |
T |
A |
9: 8,903,665 (GRCm39) |
I562N |
possibly damaging |
Het |
Prag1 |
T |
A |
8: 36,570,703 (GRCm39) |
W429R |
probably benign |
Het |
Prrc2c |
G |
T |
1: 162,504,978 (GRCm39) |
P2621Q |
probably damaging |
Het |
Psip1 |
T |
G |
4: 83,383,318 (GRCm39) |
K232N |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,770,084 (GRCm39) |
Y2663C |
probably damaging |
Het |
Trhr2 |
T |
A |
8: 123,085,342 (GRCm39) |
Q214L |
probably benign |
Het |
Txndc11 |
A |
T |
16: 10,893,151 (GRCm39) |
Y860N |
probably damaging |
Het |
Uqcc6 |
A |
T |
10: 82,455,950 (GRCm39) |
|
probably benign |
Het |
Vmn2r72 |
C |
T |
7: 85,401,249 (GRCm39) |
|
probably benign |
Het |
Yif1a |
T |
A |
19: 5,138,757 (GRCm39) |
H4Q |
possibly damaging |
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 |
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 |
2016-08-02 |