Incidental Mutation 'R6396:Mup6'
ID |
515996 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mup6
|
Ensembl Gene |
ENSMUSG00000078689 |
Gene Name |
major urinary protein 6 |
Synonyms |
Gm12544 |
MMRRC Submission |
044544-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R6396 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
60003481-60007274 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 60004837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 76
(I76T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103145
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107517]
[ENSMUST00000107520]
[ENSMUST00000107521]
|
AlphaFold |
A2AV72 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107517
AA Change: I84T
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103141 Gene: ENSMUSG00000078689 AA Change: I84T
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: I84T
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103144 Gene: ENSMUSG00000078689 AA Change: I84T
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: I76T
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103145 Gene: ENSMUSG00000078689 AA Change: I76T
Domain | Start | End | E-Value | Type |
Pfam:Lipocalin
|
25 |
164 |
1.4e-35 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 97.9%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap35 |
A |
T |
7: 16,296,224 (GRCm39) |
I947K |
probably damaging |
Het |
B3galnt2 |
A |
T |
13: 14,170,333 (GRCm39) |
I447F |
probably damaging |
Het |
Cacna2d3 |
C |
A |
14: 29,118,522 (GRCm39) |
V134L |
probably benign |
Het |
Clcn4 |
C |
T |
7: 7,297,024 (GRCm39) |
G145S |
probably damaging |
Het |
Cndp1 |
A |
T |
18: 84,650,135 (GRCm39) |
M186K |
probably benign |
Het |
Cntn6 |
A |
G |
6: 104,627,461 (GRCm39) |
Y98C |
probably damaging |
Het |
Ctsb |
T |
C |
14: 63,375,550 (GRCm39) |
V172A |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dyrk1a |
C |
A |
16: 94,472,299 (GRCm39) |
Q230K |
probably damaging |
Het |
Ech1 |
C |
T |
7: 28,529,763 (GRCm39) |
|
probably null |
Het |
Fam81b |
T |
A |
13: 76,399,968 (GRCm39) |
R97W |
probably damaging |
Het |
Heatr1 |
A |
G |
13: 12,420,978 (GRCm39) |
E423G |
possibly damaging |
Het |
Hydin |
A |
T |
8: 111,233,521 (GRCm39) |
K1786N |
probably damaging |
Het |
Igf2r |
T |
C |
17: 12,932,977 (GRCm39) |
I848M |
probably benign |
Het |
Igkv10-96 |
G |
A |
6: 68,608,969 (GRCm39) |
Q109* |
probably null |
Het |
Nmt2 |
A |
G |
2: 3,315,738 (GRCm39) |
R243G |
probably benign |
Het |
Nsd1 |
G |
A |
13: 55,386,602 (GRCm39) |
G119D |
probably damaging |
Het |
Or1ad8 |
A |
G |
11: 50,898,312 (GRCm39) |
H171R |
possibly damaging |
Het |
Or4c113 |
A |
G |
2: 88,885,641 (GRCm39) |
I43T |
probably benign |
Het |
Or4c120 |
T |
G |
2: 89,001,034 (GRCm39) |
D174A |
probably damaging |
Het |
Or51ab3 |
C |
T |
7: 103,201,888 (GRCm39) |
Q299* |
probably null |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pank3 |
T |
C |
11: 35,669,516 (GRCm39) |
V250A |
probably damaging |
Het |
Pcdh10 |
A |
G |
3: 45,334,495 (GRCm39) |
I270V |
possibly damaging |
Het |
Pnp2 |
T |
A |
14: 51,200,616 (GRCm39) |
V94E |
probably damaging |
Het |
Prdm10 |
T |
C |
9: 31,229,842 (GRCm39) |
V86A |
possibly damaging |
Het |
Resf1 |
A |
G |
6: 149,229,417 (GRCm39) |
D821G |
probably damaging |
Het |
Riox1 |
G |
A |
12: 83,998,087 (GRCm39) |
D208N |
possibly damaging |
Het |
Rrp15 |
A |
G |
1: 186,469,783 (GRCm39) |
|
probably null |
Het |
Skor1 |
G |
T |
9: 63,052,232 (GRCm39) |
P579Q |
probably damaging |
Het |
Slc44a4 |
T |
A |
17: 35,147,860 (GRCm39) |
Y481* |
probably null |
Het |
Smg7 |
A |
T |
1: 152,724,351 (GRCm39) |
V610E |
probably benign |
Het |
Tlx1 |
A |
G |
19: 45,144,491 (GRCm39) |
Q71R |
probably damaging |
Het |
Vmn2r27 |
A |
T |
6: 124,201,125 (GRCm39) |
Y277* |
probably null |
Het |
Zswim2 |
T |
A |
2: 83,754,062 (GRCm39) |
R199S |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTAAGGATGAGAAGTGATTGTCG -3'
(R):5'- GATGGCGCTCACTTGACTAG -3'
Sequencing Primer
(F):5'- GGCAAATTTGTGATTGCTAAAGC -3'
(R):5'- CGCTCACTTGACTAGTAGGTGC -3'
|
Posted On |
2018-05-04 |