Incidental Mutation 'R1326:Moxd2'
ID |
157215 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Moxd2
|
Ensembl Gene |
ENSMUSG00000029885 |
Gene Name |
monooxygenase, DBH-like 2 |
Synonyms |
Dbhl1 |
MMRRC Submission |
039392-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R1326 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
40855728-40864428 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 40857288 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 491
(T491A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031937
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031937]
|
AlphaFold |
Q7TT41 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031937
AA Change: T491A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000031937 Gene: ENSMUSG00000029885 AA Change: T491A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
DoH
|
66 |
156 |
1.43e-12 |
SMART |
Pfam:Cu2_monooxygen
|
192 |
316 |
8.3e-39 |
PFAM |
Pfam:Cu2_monoox_C
|
336 |
493 |
1.8e-37 |
PFAM |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap5 |
G |
A |
12: 52,565,153 (GRCm39) |
S708N |
possibly damaging |
Het |
Armc3 |
T |
C |
2: 19,314,935 (GRCm39) |
*882Q |
probably null |
Het |
Atp13a3 |
G |
A |
16: 30,171,128 (GRCm39) |
L306F |
probably damaging |
Het |
Cyp2d9 |
T |
C |
15: 82,339,357 (GRCm39) |
I130T |
possibly damaging |
Het |
Ect2l |
C |
T |
10: 18,041,290 (GRCm39) |
R296H |
probably benign |
Het |
Eomes |
C |
T |
9: 118,313,565 (GRCm39) |
Q518* |
probably null |
Het |
Errfi1 |
T |
C |
4: 150,949,621 (GRCm39) |
V6A |
possibly damaging |
Het |
Fezf2 |
T |
C |
14: 12,342,644 (GRCm38) |
N407S |
probably benign |
Het |
Fpgs |
T |
C |
2: 32,582,592 (GRCm39) |
|
probably null |
Het |
Fsbp |
A |
G |
4: 11,579,891 (GRCm39) |
Y53C |
probably damaging |
Het |
Hspd1 |
T |
C |
1: 55,119,418 (GRCm39) |
|
probably null |
Het |
Ifna7 |
A |
T |
4: 88,734,931 (GRCm39) |
E156V |
possibly damaging |
Het |
Map1a |
C |
T |
2: 121,136,671 (GRCm39) |
Q2258* |
probably null |
Het |
Mier2 |
A |
G |
10: 79,380,543 (GRCm39) |
F289S |
probably damaging |
Het |
Mmp16 |
A |
G |
4: 18,054,517 (GRCm39) |
N341S |
possibly damaging |
Het |
Narf |
T |
A |
11: 121,133,379 (GRCm39) |
L60Q |
probably damaging |
Het |
Pa2g4 |
T |
C |
10: 128,395,142 (GRCm39) |
D341G |
probably benign |
Het |
Parp1 |
T |
A |
1: 180,428,023 (GRCm39) |
V991D |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Slc1a4 |
A |
G |
11: 20,282,159 (GRCm39) |
L105P |
probably damaging |
Het |
Slc27a2 |
T |
A |
2: 126,406,690 (GRCm39) |
Y125N |
probably damaging |
Het |
Sorl1 |
A |
G |
9: 41,943,092 (GRCm39) |
V928A |
probably benign |
Het |
Spata31e2 |
G |
T |
1: 26,723,011 (GRCm39) |
P723H |
probably damaging |
Het |
Usp31 |
G |
C |
7: 121,247,525 (GRCm39) |
S1306C |
probably damaging |
Het |
|
Other mutations in Moxd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00885:Moxd2
|
APN |
6 |
40,861,113 (GRCm39) |
splice site |
probably benign |
|
IGL02113:Moxd2
|
APN |
6 |
40,862,338 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02223:Moxd2
|
APN |
6 |
40,861,967 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03204:Moxd2
|
APN |
6 |
40,864,239 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03385:Moxd2
|
APN |
6 |
40,855,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R0084:Moxd2
|
UTSW |
6 |
40,856,342 (GRCm39) |
missense |
probably null |
0.01 |
R1213:Moxd2
|
UTSW |
6 |
40,868,831 (GRCm39) |
unclassified |
probably benign |
|
R1652:Moxd2
|
UTSW |
6 |
40,864,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R1940:Moxd2
|
UTSW |
6 |
40,860,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R2040:Moxd2
|
UTSW |
6 |
40,861,887 (GRCm39) |
splice site |
probably null |
|
R2088:Moxd2
|
UTSW |
6 |
40,861,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R3018:Moxd2
|
UTSW |
6 |
40,855,820 (GRCm39) |
missense |
probably benign |
0.01 |
R3962:Moxd2
|
UTSW |
6 |
40,862,331 (GRCm39) |
missense |
probably benign |
|
R4248:Moxd2
|
UTSW |
6 |
40,855,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R4438:Moxd2
|
UTSW |
6 |
40,860,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R4715:Moxd2
|
UTSW |
6 |
40,864,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R4732:Moxd2
|
UTSW |
6 |
40,855,793 (GRCm39) |
missense |
probably benign |
|
R4733:Moxd2
|
UTSW |
6 |
40,855,793 (GRCm39) |
missense |
probably benign |
|
R4760:Moxd2
|
UTSW |
6 |
40,868,537 (GRCm39) |
missense |
probably benign |
0.06 |
R4851:Moxd2
|
UTSW |
6 |
40,855,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R5087:Moxd2
|
UTSW |
6 |
40,856,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R5187:Moxd2
|
UTSW |
6 |
40,856,271 (GRCm39) |
missense |
probably benign |
0.18 |
R5339:Moxd2
|
UTSW |
6 |
40,862,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R5452:Moxd2
|
UTSW |
6 |
40,859,048 (GRCm39) |
splice site |
probably null |
|
R5860:Moxd2
|
UTSW |
6 |
40,857,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R5973:Moxd2
|
UTSW |
6 |
40,855,744 (GRCm39) |
missense |
probably damaging |
0.96 |
R6015:Moxd2
|
UTSW |
6 |
40,860,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R6316:Moxd2
|
UTSW |
6 |
40,860,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R7500:Moxd2
|
UTSW |
6 |
40,868,746 (GRCm39) |
missense |
probably benign |
|
R7561:Moxd2
|
UTSW |
6 |
40,864,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R7840:Moxd2
|
UTSW |
6 |
40,862,378 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8042:Moxd2
|
UTSW |
6 |
40,862,301 (GRCm39) |
missense |
probably benign |
0.40 |
R9147:Moxd2
|
UTSW |
6 |
40,860,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R9148:Moxd2
|
UTSW |
6 |
40,860,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R9169:Moxd2
|
UTSW |
6 |
40,860,490 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9259:Moxd2
|
UTSW |
6 |
40,860,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R9291:Moxd2
|
UTSW |
6 |
40,857,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R9448:Moxd2
|
UTSW |
6 |
40,864,160 (GRCm39) |
missense |
probably benign |
0.01 |
R9522:Moxd2
|
UTSW |
6 |
40,857,375 (GRCm39) |
missense |
probably benign |
0.13 |
R9635:Moxd2
|
UTSW |
6 |
40,863,000 (GRCm39) |
missense |
possibly damaging |
0.93 |
X0052:Moxd2
|
UTSW |
6 |
40,859,462 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCATAGGGTCTGAGAGCTGGTTGAAT -3'
(R):5'- TGACAACTTTCACAGTTTGTTGTTTGCC -3'
Sequencing Primer
(F):5'- agagacaaagaaacaaagaaacaaag -3'
(R):5'- CACAGTTTGTTGTTTGCCTTTTC -3'
|
Posted On |
2014-02-18 |