Incidental Mutation 'R4438:Moxd2'
| ID |
329621 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Moxd2
|
| Ensembl Gene |
ENSMUSG00000029885 |
| Gene Name |
monooxygenase, DBH-like 2 |
| Synonyms |
Dbhl1 |
| MMRRC Submission |
041703-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R4438 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
40855728-40864428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40860996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 265
(D265V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031937]
|
| AlphaFold |
Q7TT41 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031937
AA Change: D265V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031937
Gene: ENSMUSG00000029885
AA Change: D265V
| 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: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1 |
T |
A |
2: 58,367,739 (GRCm39) |
I141F |
probably benign |
Het |
| Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
| Adck1 |
C |
T |
12: 88,397,920 (GRCm39) |
Q185* |
probably null |
Het |
| Adgrb3 |
T |
C |
1: 25,870,108 (GRCm39) |
|
probably benign |
Het |
| Als2cl |
T |
C |
9: 110,714,466 (GRCm39) |
S105P |
probably damaging |
Het |
| Asns |
C |
A |
6: 7,675,320 (GRCm39) |
A561S |
probably benign |
Het |
| Bcl2a1d |
A |
T |
9: 88,613,753 (GRCm39) |
M7K |
probably benign |
Het |
| Bst1 |
A |
T |
5: 43,982,682 (GRCm39) |
|
probably null |
Het |
| Cdc37l1 |
T |
C |
19: 28,985,021 (GRCm39) |
F224L |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,763,191 (GRCm39) |
T1215I |
possibly damaging |
Het |
| Csnk1e |
A |
T |
15: 79,305,129 (GRCm39) |
S323T |
probably benign |
Het |
| Cyp2j7 |
G |
T |
4: 96,105,646 (GRCm39) |
T288K |
probably benign |
Het |
| Dnaaf5 |
T |
A |
5: 139,149,147 (GRCm39) |
I482N |
probably damaging |
Het |
| Dpy19l3 |
A |
G |
7: 35,392,284 (GRCm39) |
I636T |
probably damaging |
Het |
| Enpep |
T |
G |
3: 129,077,740 (GRCm39) |
T626P |
possibly damaging |
Het |
| Fgfr2 |
G |
A |
7: 129,774,660 (GRCm39) |
R509* |
probably null |
Het |
| Gm5849 |
T |
A |
3: 90,685,182 (GRCm39) |
K1M |
probably null |
Het |
| Gpr83 |
T |
C |
9: 14,776,134 (GRCm39) |
Y152H |
probably damaging |
Het |
| Hdac7 |
T |
C |
15: 97,705,596 (GRCm39) |
E400G |
probably damaging |
Het |
| Hypk |
A |
T |
2: 121,288,475 (GRCm39) |
E82V |
probably damaging |
Het |
| Iqub |
C |
A |
6: 24,505,867 (GRCm39) |
A14S |
probably benign |
Het |
| Lias |
T |
C |
5: 65,552,787 (GRCm39) |
M130T |
probably damaging |
Het |
| Lingo4 |
T |
C |
3: 94,310,204 (GRCm39) |
S381P |
possibly damaging |
Het |
| Mdn1 |
A |
G |
4: 32,704,635 (GRCm39) |
T1536A |
probably damaging |
Het |
| Mtbp |
C |
A |
15: 55,466,611 (GRCm39) |
S541R |
probably benign |
Het |
| Or10j27 |
C |
A |
1: 172,957,869 (GRCm39) |
C305F |
probably benign |
Het |
| Or2a54 |
T |
C |
6: 43,093,221 (GRCm39) |
S182P |
probably benign |
Het |
| Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
| Pcsk9 |
G |
T |
4: 106,316,156 (GRCm39) |
Q96K |
probably benign |
Het |
| Pramel14 |
T |
C |
4: 143,718,192 (GRCm39) |
Y417C |
probably damaging |
Het |
| Rln1 |
A |
T |
19: 29,311,962 (GRCm39) |
F12Y |
possibly damaging |
Het |
| Setd1a |
A |
G |
7: 127,384,903 (GRCm39) |
N585D |
possibly damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,650,637 (GRCm39) |
|
probably benign |
Het |
| Snx19 |
G |
T |
9: 30,339,895 (GRCm39) |
L344F |
probably benign |
Het |
| Srfbp1 |
T |
C |
18: 52,621,403 (GRCm39) |
C155R |
probably benign |
Het |
| Sspo |
C |
T |
6: 48,464,287 (GRCm39) |
R3914C |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,225,271 (GRCm39) |
S652N |
probably damaging |
Het |
| Tmub1 |
A |
C |
5: 24,651,068 (GRCm39) |
L197R |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,926,066 (GRCm39) |
T905A |
possibly damaging |
Het |
| Tnfrsf21 |
G |
T |
17: 43,398,733 (GRCm39) |
R613L |
possibly damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,351,283 (GRCm39) |
E97D |
probably benign |
Het |
| Vmn2r25 |
A |
G |
6: 123,816,756 (GRCm39) |
I275T |
probably benign |
Het |
| Zfp1010 |
T |
G |
2: 176,956,889 (GRCm39) |
Q203P |
possibly damaging |
Het |
| Zfp568 |
G |
T |
7: 29,721,721 (GRCm39) |
C221F |
probably benign |
Het |
| Zfp91 |
C |
A |
19: 12,755,385 (GRCm39) |
E217* |
probably null |
Het |
| Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
probably benign |
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 |
|
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'- TGAAAACCATGGCAGTGATGTG -3'
(R):5'- ATGGCATAGCTTTGGGAGGC -3'
Sequencing Primer
(F):5'- AGACAAACTCTGGCTCTGC -3'
(R):5'- CTTTGGGAGGCAGGAAGGATTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation