Incidental Mutation 'R8060:Moxd1'
| ID |
619656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Moxd1
|
| Ensembl Gene |
ENSMUSG00000020000 |
| Gene Name |
monooxygenase, DBH-like 1 |
| Synonyms |
3230402N08Rik |
| MMRRC Submission |
067496-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8060 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
24099415-24178681 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24177510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 609
(S609G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095784]
|
| AlphaFold |
Q9CXI3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000095784
AA Change: S609G
|
| SMART Domains |
Protein: ENSMUSP00000093460
Gene: ENSMUSG00000020000
AA Change: S609G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
DoH
|
59 |
148 |
7.89e-15 |
SMART |
|
Pfam:Cu2_monooxygen
|
186 |
315 |
2.7e-50 |
PFAM |
|
Pfam:Cu2_monoox_C
|
334 |
491 |
2.1e-48 |
PFAM |
|
low complexity region
|
602 |
613 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamdc |
A |
T |
7: 97,224,855 (GRCm39) |
Y2* |
probably null |
Het |
| Ano5 |
T |
A |
7: 51,237,531 (GRCm39) |
V785E |
probably benign |
Het |
| Arhgef10 |
A |
T |
8: 15,004,446 (GRCm39) |
R399S |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,222,452 (GRCm39) |
|
probably benign |
Het |
| Armc3 |
G |
T |
2: 19,293,720 (GRCm39) |
V504L |
probably benign |
Het |
| Asb10 |
T |
A |
5: 24,738,833 (GRCm39) |
Y408F |
probably benign |
Het |
| Catsperb |
A |
T |
12: 101,569,025 (GRCm39) |
N899I |
probably damaging |
Het |
| Ccdc112 |
T |
C |
18: 46,426,529 (GRCm39) |
I131M |
probably damaging |
Het |
| Chrnb3 |
T |
A |
8: 27,884,588 (GRCm39) |
S442T |
unknown |
Het |
| Cit |
G |
A |
5: 116,046,786 (GRCm39) |
V400M |
probably benign |
Het |
| Copg1 |
T |
C |
6: 87,886,703 (GRCm39) |
F772L |
probably damaging |
Het |
| Cts3 |
T |
A |
13: 61,714,580 (GRCm39) |
I242F |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,770,132 (GRCm39) |
D1797E |
probably benign |
Het |
| Dock1 |
T |
A |
7: 134,592,358 (GRCm39) |
|
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Fam171a2 |
T |
C |
11: 102,329,436 (GRCm39) |
K441R |
possibly damaging |
Het |
| H2-DMa |
A |
G |
17: 34,356,259 (GRCm39) |
E87G |
probably benign |
Het |
| Has2 |
T |
A |
15: 56,533,341 (GRCm39) |
M225L |
probably benign |
Het |
| Hnrnpll |
A |
G |
17: 80,341,534 (GRCm39) |
S502P |
probably damaging |
Het |
| Hnrnpul1 |
G |
T |
7: 25,447,768 (GRCm39) |
F185L |
possibly damaging |
Het |
| Hoxd11 |
G |
A |
2: 74,512,720 (GRCm39) |
|
probably benign |
Het |
| Larp1b |
T |
C |
3: 40,939,837 (GRCm39) |
V330A |
|
Het |
| Mast4 |
T |
C |
13: 102,874,184 (GRCm39) |
E1728G |
possibly damaging |
Het |
| Minpp1 |
T |
A |
19: 32,471,303 (GRCm39) |
F284I |
probably damaging |
Het |
| Myh1 |
A |
C |
11: 67,106,077 (GRCm39) |
M1231L |
probably benign |
Het |
| Nup107 |
T |
C |
10: 117,599,674 (GRCm39) |
E615G |
probably damaging |
Het |
| Or1e27-ps1 |
T |
C |
11: 73,555,765 (GRCm39) |
I110T |
probably benign |
Het |
| Or4c10 |
A |
T |
2: 89,760,693 (GRCm39) |
N180I |
probably benign |
Het |
| Or4p7 |
A |
G |
2: 88,221,848 (GRCm39) |
T86A |
probably benign |
Het |
| Or5p55 |
A |
G |
7: 107,566,612 (GRCm39) |
T3A |
probably benign |
Het |
| Or5w20 |
A |
T |
2: 87,727,317 (GRCm39) |
Y258F |
probably damaging |
Het |
| Or6c205 |
A |
C |
10: 129,086,915 (GRCm39) |
T171P |
possibly damaging |
Het |
| Pln |
A |
T |
10: 53,219,993 (GRCm39) |
I12F |
unknown |
Het |
| Pomt2 |
G |
A |
12: 87,175,780 (GRCm39) |
A388V |
probably damaging |
Het |
| Rbl2 |
T |
A |
8: 91,823,497 (GRCm39) |
|
probably null |
Het |
| Rnpep |
T |
C |
1: 135,194,658 (GRCm39) |
Y459C |
probably damaging |
Het |
| Slc23a4 |
T |
C |
6: 34,925,336 (GRCm39) |
T498A |
probably damaging |
Het |
| Slc2a4 |
A |
T |
11: 69,835,836 (GRCm39) |
L338M |
possibly damaging |
Het |
| Smco2 |
C |
A |
6: 146,768,283 (GRCm39) |
Q221K |
probably benign |
Het |
| Snx20 |
G |
T |
8: 89,354,273 (GRCm39) |
C152* |
probably null |
Het |
| Spata16 |
T |
C |
3: 26,894,869 (GRCm39) |
L306P |
probably damaging |
Het |
| Spata20 |
A |
T |
11: 94,373,065 (GRCm39) |
F520L |
probably benign |
Het |
| Sptbn1 |
A |
T |
11: 30,051,616 (GRCm39) |
D2290E |
probably damaging |
Het |
| Tnfrsf11b |
G |
A |
15: 54,117,505 (GRCm39) |
T250I |
probably benign |
Het |
| Trim34a |
G |
T |
7: 103,910,183 (GRCm39) |
W328C |
probably damaging |
Het |
| Trim42 |
T |
G |
9: 97,245,532 (GRCm39) |
M423L |
probably damaging |
Het |
| Trpm4 |
T |
C |
7: 44,954,875 (GRCm39) |
K1055E |
probably damaging |
Het |
| Trpv5 |
T |
A |
6: 41,651,465 (GRCm39) |
K238* |
probably null |
Het |
| Tshr |
A |
C |
12: 91,505,134 (GRCm39) |
I691L |
probably benign |
Het |
| Vmn2r-ps117 |
A |
T |
17: 19,058,124 (GRCm39) |
H560L |
possibly damaging |
Het |
|
| Other mutations in Moxd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Moxd1
|
APN |
10 |
24,155,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00227:Moxd1
|
APN |
10 |
24,158,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00331:Moxd1
|
APN |
10 |
24,158,453 (GRCm39) |
splice site |
probably benign |
|
|
IGL01074:Moxd1
|
APN |
10 |
24,155,282 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL01462:Moxd1
|
APN |
10 |
24,120,286 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01777:Moxd1
|
APN |
10 |
24,128,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02051:Moxd1
|
APN |
10 |
24,128,916 (GRCm39) |
splice site |
probably null |
|
|
IGL02272:Moxd1
|
APN |
10 |
24,158,598 (GRCm39) |
nonsense |
probably null |
|
|
IGL02343:Moxd1
|
APN |
10 |
24,155,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02425:Moxd1
|
APN |
10 |
24,155,334 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02448:Moxd1
|
APN |
10 |
24,158,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02452:Moxd1
|
APN |
10 |
24,158,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03301:Moxd1
|
APN |
10 |
24,155,382 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0631:Moxd1
|
UTSW |
10 |
24,128,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1436:Moxd1
|
UTSW |
10 |
24,120,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1484:Moxd1
|
UTSW |
10 |
24,099,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Moxd1
|
UTSW |
10 |
24,176,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Moxd1
|
UTSW |
10 |
24,176,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1713:Moxd1
|
UTSW |
10 |
24,157,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Moxd1
|
UTSW |
10 |
24,155,781 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3115:Moxd1
|
UTSW |
10 |
24,177,429 (GRCm39) |
nonsense |
probably null |
|
|
R3116:Moxd1
|
UTSW |
10 |
24,177,429 (GRCm39) |
nonsense |
probably null |
|
|
R5183:Moxd1
|
UTSW |
10 |
24,155,445 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5183:Moxd1
|
UTSW |
10 |
24,163,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5322:Moxd1
|
UTSW |
10 |
24,120,151 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5728:Moxd1
|
UTSW |
10 |
24,099,581 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5824:Moxd1
|
UTSW |
10 |
24,162,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6158:Moxd1
|
UTSW |
10 |
24,160,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6322:Moxd1
|
UTSW |
10 |
24,160,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6662:Moxd1
|
UTSW |
10 |
24,160,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6827:Moxd1
|
UTSW |
10 |
24,155,748 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6928:Moxd1
|
UTSW |
10 |
24,176,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7048:Moxd1
|
UTSW |
10 |
24,157,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7320:Moxd1
|
UTSW |
10 |
24,177,363 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7736:Moxd1
|
UTSW |
10 |
24,158,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8073:Moxd1
|
UTSW |
10 |
24,128,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8089:Moxd1
|
UTSW |
10 |
24,157,417 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8255:Moxd1
|
UTSW |
10 |
24,099,700 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8314:Moxd1
|
UTSW |
10 |
24,128,438 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9039:Moxd1
|
UTSW |
10 |
24,155,251 (GRCm39) |
splice site |
probably benign |
|
|
R9099:Moxd1
|
UTSW |
10 |
24,155,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9306:Moxd1
|
UTSW |
10 |
24,128,824 (GRCm39) |
splice site |
probably benign |
|
|
R9657:Moxd1
|
UTSW |
10 |
24,128,485 (GRCm39) |
missense |
probably benign |
0.16 |
|
X0063:Moxd1
|
UTSW |
10 |
24,128,398 (GRCm39) |
missense |
probably benign |
0.18 |
|
Z1177:Moxd1
|
UTSW |
10 |
24,160,702 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTGCTCACAAGAATGGC -3'
(R):5'- ACTTTGGTCGAGAAACCCAG -3'
Sequencing Primer
(F):5'- TGACAGCAATACCTCCTG -3'
(R):5'- CCACAGTGACATGGCTTAGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation