Incidental Mutation 'R6583:Paox'
| ID |
524235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Paox
|
| Ensembl Gene |
ENSMUSG00000025464 |
| Gene Name |
polyamine oxidase (exo-N4-amino) |
| Synonyms |
Pao, 2410012F02Rik |
| MMRRC Submission |
044707-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R6583 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
139693182-139714249 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139706291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 70
(N70K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026537
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026537]
[ENSMUST00000097967]
[ENSMUST00000211757]
|
| AlphaFold |
Q8C0L6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026537
AA Change: N70K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026537
Gene: ENSMUSG00000025464
AA Change: N70K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_binding_8
|
10 |
79 |
4.1e-14 |
PFAM |
|
Pfam:Amino_oxidase
|
15 |
490 |
4.9e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097967
|
| SMART Domains |
Protein: ENSMUSP00000095580
Gene: ENSMUSG00000025464
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_binding_8
|
10 |
77 |
1.4e-8 |
PFAM |
|
Pfam:Amino_oxidase
|
52 |
260 |
1.5e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209908
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210240
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211757
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
A |
C |
3: 126,810,613 (GRCm39) |
I491S |
probably damaging |
Het |
| Armc12 |
A |
T |
17: 28,757,588 (GRCm39) |
Q240L |
probably null |
Het |
| Cntnap5c |
C |
T |
17: 58,637,272 (GRCm39) |
P1050S |
probably damaging |
Het |
| Col4a3 |
C |
A |
1: 82,619,197 (GRCm39) |
A42E |
unknown |
Het |
| D630003M21Rik |
A |
G |
2: 158,062,436 (GRCm39) |
V28A |
probably damaging |
Het |
| Dbf4 |
A |
G |
5: 8,448,143 (GRCm39) |
S355P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,150,516 (GRCm39) |
V749A |
probably benign |
Het |
| Exoc4 |
T |
C |
6: 33,792,688 (GRCm39) |
L606P |
probably damaging |
Het |
| Fggy |
T |
C |
4: 95,489,210 (GRCm39) |
S109P |
probably benign |
Het |
| Gdf7 |
T |
A |
12: 8,351,758 (GRCm39) |
Q59L |
unknown |
Het |
| M6pr |
T |
C |
6: 122,290,349 (GRCm39) |
V104A |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,364,739 (GRCm39) |
|
probably null |
Het |
| Micu2 |
T |
C |
14: 58,181,127 (GRCm39) |
K169R |
probably damaging |
Het |
| Mthfd1l |
A |
G |
10: 3,997,937 (GRCm39) |
D636G |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nfib |
T |
G |
4: 82,416,708 (GRCm39) |
D125A |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,332,117 (GRCm39) |
T393A |
probably benign |
Het |
| Or8b49 |
G |
A |
9: 38,506,260 (GRCm39) |
V248I |
possibly damaging |
Het |
| Pnma8b |
A |
G |
7: 16,679,844 (GRCm39) |
N276S |
probably damaging |
Het |
| Ralgds |
G |
A |
2: 28,423,656 (GRCm39) |
A32T |
probably damaging |
Het |
| Samd11 |
T |
A |
4: 156,332,591 (GRCm39) |
N446I |
possibly damaging |
Het |
| Soat1 |
T |
C |
1: 156,294,062 (GRCm39) |
|
probably null |
Het |
| Tmem87a |
A |
T |
2: 120,205,958 (GRCm39) |
V339E |
possibly damaging |
Het |
| Tmprss13 |
G |
T |
9: 45,256,603 (GRCm39) |
C516F |
probably damaging |
Het |
| Vmn2r69 |
T |
C |
7: 85,059,017 (GRCm39) |
T515A |
probably benign |
Het |
| Xrcc5 |
T |
C |
1: 72,351,752 (GRCm39) |
|
probably null |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
| Zfp964 |
G |
T |
8: 70,115,633 (GRCm39) |
D78Y |
probably damaging |
Het |
|
| Other mutations in Paox |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0084:Paox
|
UTSW |
7 |
139,712,359 (GRCm39) |
nonsense |
probably null |
|
|
R0140:Paox
|
UTSW |
7 |
139,713,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0285:Paox
|
UTSW |
7 |
139,709,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0464:Paox
|
UTSW |
7 |
139,709,195 (GRCm39) |
unclassified |
probably benign |
|
|
R0546:Paox
|
UTSW |
7 |
139,711,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0733:Paox
|
UTSW |
7 |
139,707,440 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0926:Paox
|
UTSW |
7 |
139,713,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1169:Paox
|
UTSW |
7 |
139,706,244 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1466:Paox
|
UTSW |
7 |
139,709,194 (GRCm39) |
unclassified |
probably benign |
|
|
R2260:Paox
|
UTSW |
7 |
139,713,967 (GRCm39) |
nonsense |
probably null |
|
|
R4172:Paox
|
UTSW |
7 |
139,713,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5914:Paox
|
UTSW |
7 |
139,709,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5951:Paox
|
UTSW |
7 |
139,707,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5960:Paox
|
UTSW |
7 |
139,712,402 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6019:Paox
|
UTSW |
7 |
139,711,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8986:Paox
|
UTSW |
7 |
139,706,503 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9708:Paox
|
UTSW |
7 |
139,712,359 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACCAAGCCATGCCTTTAGG -3'
(R):5'- AGTCCATAGAACAGACGGGC -3'
Sequencing Primer
(F):5'- GGAACTACTTTACCCTGAGGAACAG -3'
(R):5'- TAGAACAGACGGGCCATCTCTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation