Incidental Mutation 'R5824:Moxd1'
ID |
450075 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Moxd1
|
Ensembl Gene |
ENSMUSG00000020000 |
Gene Name |
monooxygenase, DBH-like 1 |
Synonyms |
3230402N08Rik |
MMRRC Submission |
043216-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5824 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
24099415-24178681 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 24162995 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 486
(I486F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093460
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095784]
|
AlphaFold |
Q9CXI3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095784
AA Change: I486F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000093460 Gene: ENSMUSG00000020000 AA Change: I486F
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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtpbp1 |
A |
T |
13: 59,613,913 (GRCm39) |
H66Q |
probably damaging |
Het |
Ap1g1 |
T |
A |
8: 110,565,544 (GRCm39) |
|
probably null |
Het |
Ap4b1 |
A |
T |
3: 103,720,701 (GRCm39) |
I124F |
probably benign |
Het |
Arhgap10 |
A |
T |
8: 78,085,181 (GRCm39) |
Y462* |
probably null |
Het |
Btnl10 |
G |
T |
11: 58,814,266 (GRCm39) |
M315I |
probably benign |
Het |
Cep295 |
A |
G |
9: 15,236,952 (GRCm39) |
V1994A |
possibly damaging |
Het |
Cherp |
G |
A |
8: 73,216,102 (GRCm39) |
|
probably benign |
Het |
Ckap5 |
G |
A |
2: 91,389,481 (GRCm39) |
A318T |
probably benign |
Het |
Cma1 |
T |
C |
14: 56,179,182 (GRCm39) |
K238E |
possibly damaging |
Het |
Cspg4b |
T |
A |
13: 113,505,154 (GRCm39) |
H2094Q |
probably damaging |
Het |
Ctif |
T |
C |
18: 75,743,749 (GRCm39) |
D141G |
possibly damaging |
Het |
Ctnna1 |
T |
C |
18: 35,312,939 (GRCm39) |
S264P |
probably benign |
Het |
Dnah12 |
G |
T |
14: 26,492,475 (GRCm39) |
|
probably null |
Het |
Dnah5 |
A |
G |
15: 28,313,967 (GRCm39) |
T1928A |
probably benign |
Het |
Etfdh |
G |
A |
3: 79,517,252 (GRCm39) |
P379L |
probably damaging |
Het |
Gfra3 |
T |
C |
18: 34,844,264 (GRCm39) |
N92S |
probably damaging |
Het |
Gpr161 |
C |
A |
1: 165,138,560 (GRCm39) |
T382K |
possibly damaging |
Het |
Gspt2 |
T |
C |
X: 93,680,071 (GRCm39) |
V70A |
possibly damaging |
Het |
Hmcn1 |
A |
G |
1: 150,868,774 (GRCm39) |
V10A |
probably benign |
Het |
Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
Kpna1 |
A |
G |
16: 35,840,575 (GRCm39) |
D205G |
possibly damaging |
Het |
Man2a2 |
T |
G |
7: 80,002,780 (GRCm39) |
D1067A |
probably benign |
Het |
Map3k4 |
G |
A |
17: 12,448,526 (GRCm39) |
H1551Y |
probably damaging |
Het |
Notch3 |
G |
T |
17: 32,372,835 (GRCm39) |
R579S |
possibly damaging |
Het |
Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
Or6c65 |
T |
C |
10: 129,604,250 (GRCm39) |
V295A |
probably damaging |
Het |
Or8b4 |
A |
G |
9: 37,830,861 (GRCm39) |
T308A |
probably benign |
Het |
Pira13 |
T |
C |
7: 3,827,753 (GRCm39) |
T135A |
probably damaging |
Het |
Recql4 |
C |
T |
15: 76,592,785 (GRCm39) |
C302Y |
probably damaging |
Het |
Reg3b |
G |
A |
6: 78,349,104 (GRCm39) |
V77I |
possibly damaging |
Het |
Terb1 |
T |
C |
8: 105,212,079 (GRCm39) |
T301A |
probably benign |
Het |
Tmem260 |
G |
A |
14: 48,742,785 (GRCm39) |
C540Y |
probably damaging |
Het |
Tmprss15 |
A |
T |
16: 78,831,201 (GRCm39) |
F385I |
probably damaging |
Het |
Trbv12-2 |
G |
A |
6: 41,095,774 (GRCm39) |
|
probably benign |
Het |
Upk3bl |
T |
A |
5: 136,089,133 (GRCm39) |
Y196* |
probably null |
Het |
Vmn1r199 |
A |
T |
13: 22,567,748 (GRCm39) |
K304N |
probably benign |
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 |
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 |
R8060:Moxd1
|
UTSW |
10 |
24,177,510 (GRCm39) |
missense |
unknown |
|
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'- GCCTCTCCTTGCAAATGATAACG -3'
(R):5'- CTGGACATGGCAACCAAGTTTAC -3'
Sequencing Primer
(F):5'- TGCATTTCAGAATTGAGTGGATC -3'
(R):5'- CTTGGTCTCCTGAGTGCCAAG -3'
|
Posted On |
2016-12-20 |