Incidental Mutation 'R6316:Moxd2'
ID |
509981 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Moxd2
|
Ensembl Gene |
ENSMUSG00000029885 |
Gene Name |
monooxygenase, DBH-like 2 |
Synonyms |
Dbhl1 |
MMRRC Submission |
044416-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R6316 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
40855728-40864428 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 40860481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 321
(D321G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031937
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031937]
|
AlphaFold |
Q7TT41 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031937
AA Change: D321G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031937 Gene: ENSMUSG00000029885 AA Change: D321G
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 98.0%
|
Validation Efficiency |
97% (38/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,353,118 (GRCm39) |
T775A |
probably benign |
Het |
Adam6a |
A |
T |
12: 113,509,196 (GRCm39) |
N523I |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,647,187 (GRCm39) |
T3118A |
possibly damaging |
Het |
Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
Asxl3 |
A |
G |
18: 22,655,839 (GRCm39) |
Y1283C |
probably damaging |
Het |
Btbd2 |
T |
A |
10: 80,480,612 (GRCm39) |
I319F |
probably damaging |
Het |
Eno4 |
G |
A |
19: 58,948,723 (GRCm39) |
|
probably null |
Het |
Glis2 |
T |
A |
16: 4,431,700 (GRCm39) |
|
probably benign |
Het |
Grin2b |
A |
T |
6: 135,757,277 (GRCm39) |
C395S |
probably benign |
Het |
H1f8 |
T |
C |
6: 115,925,876 (GRCm39) |
|
probably null |
Het |
Kansl1l |
T |
A |
1: 66,774,744 (GRCm39) |
Y694F |
probably benign |
Het |
Kcnj1 |
A |
T |
9: 32,308,632 (GRCm39) |
E332V |
probably damaging |
Het |
Klhdc7a |
T |
C |
4: 139,694,113 (GRCm39) |
E278G |
probably benign |
Het |
Krt33a |
T |
C |
11: 99,905,027 (GRCm39) |
N160D |
probably damaging |
Het |
Ksr2 |
A |
G |
5: 117,823,567 (GRCm39) |
N448S |
probably damaging |
Het |
Lpar6 |
A |
G |
14: 73,476,774 (GRCm39) |
Y245C |
probably damaging |
Het |
Magel2 |
T |
C |
7: 62,028,467 (GRCm39) |
I457T |
possibly damaging |
Het |
Manf |
A |
G |
9: 106,766,385 (GRCm39) |
L132P |
probably damaging |
Het |
Mtmr12 |
T |
A |
15: 12,236,199 (GRCm39) |
C153S |
probably null |
Het |
Muc16 |
T |
C |
9: 18,553,115 (GRCm39) |
T4393A |
probably benign |
Het |
Notch3 |
T |
C |
17: 32,356,787 (GRCm39) |
|
probably null |
Het |
Or9e1 |
A |
G |
11: 58,732,768 (GRCm39) |
Y276C |
probably damaging |
Het |
Pirb |
T |
A |
7: 3,720,822 (GRCm39) |
K225N |
probably damaging |
Het |
Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
Rilpl2 |
A |
G |
5: 124,615,943 (GRCm39) |
V69A |
probably damaging |
Het |
Smdt1 |
T |
C |
15: 82,232,210 (GRCm39) |
V99A |
probably damaging |
Het |
Smpd1 |
T |
C |
7: 105,204,709 (GRCm39) |
V196A |
probably benign |
Het |
Supt20 |
TCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
3: 54,635,069 (GRCm39) |
|
probably benign |
Het |
Tcte1 |
A |
G |
17: 45,845,786 (GRCm39) |
H130R |
probably benign |
Het |
Tead1 |
C |
A |
7: 112,491,046 (GRCm39) |
Q296K |
probably damaging |
Het |
Thoc2l |
G |
C |
5: 104,667,595 (GRCm39) |
G706R |
probably damaging |
Het |
Tmem163 |
C |
T |
1: 127,479,102 (GRCm39) |
S139N |
probably benign |
Het |
Tor1aip2 |
G |
T |
1: 155,937,840 (GRCm39) |
D192Y |
probably damaging |
Het |
Trgv2 |
G |
A |
13: 19,520,912 (GRCm39) |
Q61* |
probably null |
Het |
Trib1 |
T |
C |
15: 59,521,264 (GRCm39) |
S85P |
probably benign |
Het |
Trrap |
T |
A |
5: 144,750,336 (GRCm39) |
N1581K |
probably benign |
Het |
Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
Xrn2 |
A |
G |
2: 146,883,930 (GRCm39) |
Y563C |
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 |
|
R1326:Moxd2
|
UTSW |
6 |
40,857,288 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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'- TTTCACATCTGTGGCTCAGGC -3'
(R):5'- CCTGGTGAGTATCCAAAGGAC -3'
Sequencing Primer
(F):5'- GAGAATTTATGTGTCTCAGCTTCACC -3'
(R):5'- CTGGTGAGTATCCAAAGGACATGTG -3'
|
Posted On |
2018-04-02 |