Incidental Mutation 'R4248:Moxd2'
| ID |
320492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Moxd2
|
| Ensembl Gene |
ENSMUSG00000029885 |
| Gene Name |
monooxygenase, DBH-like 2 |
| Synonyms |
Dbhl1 |
| MMRRC Submission |
041064-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R4248 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
40855728-40864428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 40855933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 552
(I552S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031937]
|
| AlphaFold |
Q7TT41 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031937
AA Change: I552S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031937
Gene: ENSMUSG00000029885
AA Change: I552S
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,606,013 (GRCm39) |
N36S |
possibly damaging |
Het |
| Alox12b |
G |
A |
11: 69,054,431 (GRCm39) |
V250I |
probably benign |
Het |
| Armt1 |
T |
C |
10: 4,389,687 (GRCm39) |
F115L |
probably benign |
Het |
| Cdh9 |
T |
C |
15: 16,850,474 (GRCm39) |
F536L |
probably benign |
Het |
| Fbxo25 |
T |
C |
8: 13,989,617 (GRCm39) |
S355P |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,123,123 (GRCm39) |
K271R |
probably null |
Het |
| Gapt |
C |
A |
13: 110,490,289 (GRCm39) |
V125F |
probably damaging |
Het |
| Gucd1 |
A |
T |
10: 75,345,662 (GRCm39) |
V131E |
probably damaging |
Het |
| Hecw2 |
C |
T |
1: 53,871,804 (GRCm39) |
V1381M |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,007,299 (GRCm39) |
E1299G |
probably damaging |
Het |
| Hnf4g |
A |
G |
3: 3,717,909 (GRCm39) |
D342G |
possibly damaging |
Het |
| Kmt2b |
C |
T |
7: 30,273,489 (GRCm39) |
R2349H |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,822,220 (GRCm39) |
R2896Q |
possibly damaging |
Het |
| Nkx1-2 |
TGGTGAGAGGGGGCCGCCTTGGCCCCG |
TG |
7: 132,201,209 (GRCm39) |
|
probably null |
Het |
| Onecut3 |
A |
G |
10: 80,349,963 (GRCm39) |
T486A |
possibly damaging |
Het |
| Or8g36 |
A |
G |
9: 39,422,899 (GRCm39) |
V39A |
probably benign |
Het |
| Pik3cb |
T |
C |
9: 98,983,229 (GRCm39) |
|
probably null |
Het |
| Pirb |
A |
G |
7: 3,722,297 (GRCm39) |
F182S |
probably damaging |
Het |
| Rev1 |
C |
T |
1: 38,146,729 (GRCm39) |
R34H |
possibly damaging |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Snx8 |
A |
G |
5: 140,341,800 (GRCm39) |
L121P |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,100,351 (GRCm39) |
H389R |
possibly damaging |
Het |
| Tnfrsf1b |
G |
A |
4: 144,942,535 (GRCm39) |
A416V |
probably benign |
Het |
| Ust |
A |
T |
10: 8,393,982 (GRCm39) |
L61Q |
possibly damaging |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,376 (GRCm39) |
K168N |
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 |
|
|
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'- GGGGTCAAATTGGCAAGCTG -3'
(R):5'- CTTTCCTGCATTGTAGAGGCTG -3'
Sequencing Primer
(F):5'- GAATCATACTCCAGTCTGCAGCATTG -3'
(R):5'- AGGCTGTTGCAGTCTCCCAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation