Incidental Mutation 'R3435:Mup6'
| ID |
267152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mup6
|
| Ensembl Gene |
ENSMUSG00000078689 |
| Gene Name |
major urinary protein 6 |
| Synonyms |
Gm12544 |
| MMRRC Submission |
040653-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R3435 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
60003481-60007274 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 60004116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103145
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107517]
[ENSMUST00000107520]
[ENSMUST00000107521]
|
| AlphaFold |
A2AV72 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000107517
|
| SMART Domains |
Protein: ENSMUSP00000103141
Gene: ENSMUSG00000078689
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Lipocalin
|
33 |
172 |
1.6e-35 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107520
|
| SMART Domains |
Protein: ENSMUSP00000103144
Gene: ENSMUSG00000078689
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Lipocalin
|
33 |
172 |
1.6e-35 |
PFAM |
|
| Predicted Effect |
probably null
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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
C |
2: 68,432,189 (GRCm39) |
D91A |
unknown |
Het |
| Abca9 |
T |
C |
11: 110,045,256 (GRCm39) |
E359G |
probably benign |
Het |
| Atp7a |
G |
A |
X: 105,138,463 (GRCm39) |
R563K |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,038,631 (GRCm39) |
D150G |
probably damaging |
Het |
| Fam47e |
T |
A |
5: 92,733,221 (GRCm39) |
V152D |
probably damaging |
Het |
| Gm19965 |
C |
A |
1: 116,749,353 (GRCm39) |
H345N |
possibly damaging |
Het |
| Ift74 |
A |
G |
4: 94,510,089 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
A |
G |
3: 88,001,911 (GRCm39) |
I384V |
probably benign |
Het |
| Lrrc57 |
T |
A |
2: 120,439,862 (GRCm39) |
|
probably benign |
Het |
| Mafk |
C |
T |
5: 139,786,062 (GRCm39) |
Q87* |
probably null |
Het |
| Mast2 |
A |
T |
4: 116,165,292 (GRCm39) |
S1314T |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,923,887 (GRCm39) |
I508T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,733,726 (GRCm39) |
|
probably null |
Het |
| Neurl1a |
T |
C |
19: 47,245,964 (GRCm39) |
V532A |
probably damaging |
Het |
| Nod2 |
A |
G |
8: 89,390,637 (GRCm39) |
R293G |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,377,592 (GRCm39) |
D161E |
possibly damaging |
Het |
| Or1j1 |
T |
A |
2: 36,702,690 (GRCm39) |
Q138L |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,325,050 (GRCm39) |
N149K |
possibly damaging |
Het |
| P2rx4 |
T |
A |
5: 122,863,133 (GRCm39) |
I202K |
probably damaging |
Het |
| Pbxip1 |
T |
C |
3: 89,354,543 (GRCm39) |
L354P |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,178,772 (GRCm39) |
M889L |
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 42,874,174 (GRCm39) |
Q52L |
possibly damaging |
Het |
| Prob1 |
T |
C |
18: 35,787,294 (GRCm39) |
E320G |
possibly damaging |
Het |
| Stard13 |
A |
T |
5: 150,965,644 (GRCm39) |
L937Q |
probably damaging |
Het |
| Strn4 |
T |
C |
7: 16,571,558 (GRCm39) |
S563P |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,298,565 (GRCm39) |
D1114G |
probably damaging |
Het |
| Tmem117 |
T |
C |
15: 94,992,573 (GRCm39) |
I411T |
probably damaging |
Het |
| Tmx3 |
T |
A |
18: 90,546,028 (GRCm39) |
V203E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,709,062 (GRCm39) |
|
probably benign |
Het |
| Vmn1r209 |
A |
T |
13: 22,990,267 (GRCm39) |
M141K |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCATGTGGTATCCCTGC -3'
(R):5'- CTCCTAGTGAATTAATTCCTGTCAC -3'
Sequencing Primer
(F):5'- GCATGTGGTATCCCTGCTTCTTC -3'
(R):5'- AGTGAATTAATTCCTGTCACCAATTC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation