Incidental Mutation 'R5339:Moxd2'
| ID |
423687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Moxd2
|
| Ensembl Gene |
ENSMUSG00000029885 |
| Gene Name |
monooxygenase, DBH-like 2 |
| Synonyms |
Dbhl1 |
| MMRRC Submission |
042918-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R5339 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
40855728-40864428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40862354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 155
(Y155C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031937]
|
| AlphaFold |
Q7TT41 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031937
AA Change: Y155C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031937
Gene: ENSMUSG00000029885
AA Change: Y155C
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192446
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (57/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
C |
T |
10: 10,318,350 (GRCm39) |
G158E |
probably damaging |
Het |
| Adgrl2 |
C |
T |
3: 148,523,480 (GRCm39) |
R1256H |
probably benign |
Het |
| C3 |
C |
A |
17: 57,531,308 (GRCm39) |
V329F |
probably damaging |
Het |
| Ccdc50 |
C |
T |
16: 27,236,055 (GRCm39) |
H130Y |
probably damaging |
Het |
| Chrna7 |
A |
G |
7: 62,749,055 (GRCm39) |
S476P |
probably damaging |
Het |
| Crtc1 |
A |
T |
8: 70,850,383 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,536,494 (GRCm39) |
T2137A |
possibly damaging |
Het |
| Ehd3 |
G |
A |
17: 74,135,202 (GRCm39) |
M359I |
possibly damaging |
Het |
| Fastkd3 |
G |
A |
13: 68,738,283 (GRCm39) |
G611R |
probably damaging |
Het |
| Foxa2 |
T |
A |
2: 147,886,354 (GRCm39) |
S154C |
probably damaging |
Het |
| Gfm2 |
T |
C |
13: 97,311,548 (GRCm39) |
I733T |
probably benign |
Het |
| Gm1968 |
T |
C |
16: 29,781,077 (GRCm39) |
|
noncoding transcript |
Het |
| Gmfg-ps |
T |
C |
6: 4,893,401 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmd |
A |
T |
14: 56,368,140 (GRCm39) |
N106K |
possibly damaging |
Het |
| Huwe1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
X: 150,690,044 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
T |
C |
14: 121,181,122 (GRCm39) |
W883R |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,370,922 (GRCm39) |
V1063D |
probably damaging |
Het |
| Kansl3 |
A |
C |
1: 36,406,802 (GRCm39) |
|
probably benign |
Het |
| Klkb1 |
C |
A |
8: 45,723,748 (GRCm39) |
V556F |
possibly damaging |
Het |
| Krtap14 |
C |
A |
16: 88,622,747 (GRCm39) |
R77S |
probably benign |
Het |
| Leng8 |
T |
A |
7: 4,148,285 (GRCm39) |
Y686N |
possibly damaging |
Het |
| Mctp1 |
C |
A |
13: 76,973,825 (GRCm39) |
|
probably benign |
Het |
| Ofcc1 |
A |
G |
13: 40,241,321 (GRCm39) |
V729A |
probably benign |
Het |
| Or2w6 |
G |
A |
13: 21,843,404 (GRCm39) |
L30F |
probably benign |
Het |
| Or4k1 |
C |
A |
14: 50,377,759 (GRCm39) |
M112I |
probably damaging |
Het |
| Or7g27 |
G |
A |
9: 19,250,455 (GRCm39) |
G233E |
possibly damaging |
Het |
| Or8g30 |
A |
T |
9: 39,230,599 (GRCm39) |
F104I |
possibly damaging |
Het |
| Or8g37 |
T |
A |
9: 39,731,229 (GRCm39) |
M98K |
probably damaging |
Het |
| Pdia4 |
C |
T |
6: 47,773,619 (GRCm39) |
A577T |
possibly damaging |
Het |
| Pex5 |
A |
T |
6: 124,374,963 (GRCm39) |
S629T |
probably benign |
Het |
| Pnpla7 |
T |
C |
2: 24,892,949 (GRCm39) |
S146P |
probably benign |
Het |
| Prune2 |
G |
A |
19: 17,098,236 (GRCm39) |
E1247K |
probably damaging |
Het |
| Reg3a |
A |
G |
6: 78,360,522 (GRCm39) |
|
probably null |
Het |
| Snx8 |
G |
A |
5: 140,343,905 (GRCm39) |
R78C |
probably damaging |
Het |
| Sstr5 |
T |
C |
17: 25,710,173 (GRCm39) |
E352G |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,121,892 (GRCm39) |
Y767C |
possibly damaging |
Het |
| Tbx15 |
G |
A |
3: 99,223,600 (GRCm39) |
V263M |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,993,556 (GRCm39) |
Y695H |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,082,031 (GRCm39) |
L1174Q |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,549,942 (GRCm39) |
Y235N |
probably damaging |
Het |
| Tha1 |
C |
A |
11: 117,761,908 (GRCm39) |
R111L |
possibly damaging |
Het |
| Trim17 |
C |
T |
11: 58,845,336 (GRCm39) |
|
probably null |
Het |
| Trim72 |
A |
G |
7: 127,609,505 (GRCm39) |
T436A |
probably benign |
Het |
| Uba7 |
C |
T |
9: 107,856,065 (GRCm39) |
A480V |
probably damaging |
Het |
| Ublcp1 |
A |
T |
11: 44,346,435 (GRCm39) |
S313T |
probably benign |
Het |
| Ubqlnl |
A |
G |
7: 103,798,972 (GRCm39) |
V175A |
probably benign |
Het |
| Vps26a |
A |
G |
10: 62,294,746 (GRCm39) |
L276P |
probably damaging |
Het |
| Zdhhc21 |
C |
T |
4: 82,756,550 (GRCm39) |
G110S |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,642,491 (GRCm39) |
E1133G |
probably damaging |
Het |
| Zfp800 |
A |
T |
6: 28,256,472 (GRCm39) |
S39T |
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 |
|
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'- TTCTCACAGGGTCAAGGGAAC -3'
(R):5'- TCAGAGGTAGAACTAAAGCCAC -3'
Sequencing Primer
(F):5'- ACTTTTCTCTAAGGAATGTGCAGG -3'
(R):5'- GCCACACTAATCTTGTCTCAAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation