Incidental Mutation 'R7002:Duox1'
ID |
544580 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Duox1
|
Ensembl Gene |
ENSMUSG00000033268 |
Gene Name |
dual oxidase 1 |
Synonyms |
NOXEF1, LNOX1, 9930101G15Rik, THOX1 |
MMRRC Submission |
045107-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7002 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
122146153-122178453 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 122150358 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 196
(Q196*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097060
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099461]
|
AlphaFold |
A2AQ92 |
Predicted Effect |
probably null
Transcript: ENSMUST00000099461
AA Change: Q196*
|
SMART Domains |
Protein: ENSMUSP00000097060 Gene: ENSMUSG00000033268 AA Change: Q196*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:An_peroxidase
|
29 |
557 |
2.1e-134 |
PFAM |
transmembrane domain
|
594 |
616 |
N/A |
INTRINSIC |
EFh
|
819 |
847 |
1.82e-4 |
SMART |
EFh
|
855 |
883 |
3.45e-5 |
SMART |
transmembrane domain
|
1044 |
1066 |
N/A |
INTRINSIC |
Pfam:Ferric_reduct
|
1087 |
1236 |
5.3e-21 |
PFAM |
Pfam:FAD_binding_8
|
1272 |
1374 |
8.5e-21 |
PFAM |
Pfam:NAD_binding_6
|
1380 |
1534 |
3.5e-33 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (73/73) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes proteins encoded by this gene and the similar DUOX2 gene. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. This protein generates hydrogen peroxide and thereby plays a role in the activity of thyroid peroxidase, lactoperoxidase, and in lactoperoxidase-mediated antimicrobial defense at mucosal surfaces. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2012]
|
Allele List at MGI |
All alleles(6) : Targeted, other(3) Gene trapped(3)
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
G |
11: 109,832,390 (GRCm39) |
S1308P |
probably damaging |
Het |
Abl2 |
A |
T |
1: 156,386,703 (GRCm39) |
R29W |
probably damaging |
Het |
Adam6b |
C |
A |
12: 113,453,327 (GRCm39) |
S48* |
probably null |
Het |
Adamts18 |
T |
A |
8: 114,501,922 (GRCm39) |
D313V |
possibly damaging |
Het |
Aoc1 |
A |
G |
6: 48,882,810 (GRCm39) |
S229G |
probably benign |
Het |
Apol10a |
G |
A |
15: 77,369,046 (GRCm39) |
R15H |
possibly damaging |
Het |
Bend4 |
T |
A |
5: 67,555,602 (GRCm39) |
T535S |
probably benign |
Het |
Blm |
T |
C |
7: 80,119,501 (GRCm39) |
K1024R |
probably benign |
Het |
Brca2 |
T |
C |
5: 150,463,383 (GRCm39) |
V1049A |
probably benign |
Het |
Cerk |
T |
C |
15: 86,040,795 (GRCm39) |
Y188C |
possibly damaging |
Het |
Cic |
C |
T |
7: 24,971,621 (GRCm39) |
R451C |
probably damaging |
Het |
Col18a1 |
A |
T |
10: 77,002,177 (GRCm39) |
V10E |
unknown |
Het |
Cplx1 |
T |
A |
5: 108,668,182 (GRCm39) |
K58M |
probably damaging |
Het |
Crybg1 |
T |
A |
10: 43,874,831 (GRCm39) |
D759V |
probably damaging |
Het |
Cwc25 |
A |
T |
11: 97,638,897 (GRCm39) |
N342K |
probably damaging |
Het |
Dab2 |
A |
T |
15: 6,464,846 (GRCm39) |
T566S |
probably benign |
Het |
Depdc5 |
G |
A |
5: 33,034,502 (GRCm39) |
|
probably null |
Het |
Dip2b |
T |
A |
15: 100,058,346 (GRCm39) |
N408K |
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,598,955 (GRCm39) |
I3631T |
probably damaging |
Het |
Dnase1 |
A |
G |
16: 3,857,410 (GRCm39) |
I236V |
possibly damaging |
Het |
Eef2k |
G |
A |
7: 120,491,155 (GRCm39) |
R547Q |
probably benign |
Het |
Erich5 |
C |
T |
15: 34,471,508 (GRCm39) |
L246F |
probably damaging |
Het |
Frmpd1 |
C |
T |
4: 45,284,200 (GRCm39) |
A1007V |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,819,687 (GRCm39) |
I5140N |
possibly damaging |
Het |
Gan |
T |
C |
8: 117,922,586 (GRCm39) |
C440R |
possibly damaging |
Het |
Garnl3 |
T |
A |
2: 32,944,205 (GRCm39) |
H73L |
possibly damaging |
Het |
Gid8 |
T |
G |
2: 180,355,096 (GRCm39) |
M34R |
possibly damaging |
Het |
Gjd4 |
C |
A |
18: 9,280,960 (GRCm39) |
L39F |
possibly damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Grhpr |
T |
C |
4: 44,990,427 (GRCm39) |
S306P |
probably damaging |
Het |
H2bc21 |
A |
G |
3: 96,128,689 (GRCm39) |
I70V |
probably benign |
Het |
Hdac4 |
T |
G |
1: 91,896,083 (GRCm39) |
K729T |
possibly damaging |
Het |
Igfbp2 |
C |
T |
1: 72,888,804 (GRCm39) |
H85Y |
probably damaging |
Het |
Igkv4-61 |
T |
G |
6: 69,394,373 (GRCm39) |
I13L |
probably benign |
Het |
Il18r1 |
G |
A |
1: 40,514,013 (GRCm39) |
S73N |
probably benign |
Het |
Immt |
T |
C |
6: 71,838,024 (GRCm39) |
V244A |
probably damaging |
Het |
Irs1 |
T |
C |
1: 82,265,981 (GRCm39) |
Y745C |
probably benign |
Het |
Itpr3 |
T |
C |
17: 27,329,554 (GRCm39) |
V1526A |
probably benign |
Het |
Jrkl |
A |
T |
9: 13,245,526 (GRCm39) |
I45K |
probably damaging |
Het |
Lamp3 |
G |
T |
16: 19,474,172 (GRCm39) |
Q401K |
possibly damaging |
Het |
Lrrfip1 |
T |
A |
1: 91,043,180 (GRCm39) |
H528Q |
probably benign |
Het |
Ltn1 |
A |
T |
16: 87,220,361 (GRCm39) |
D245E |
probably benign |
Het |
Mmut |
T |
A |
17: 41,252,274 (GRCm39) |
I272N |
possibly damaging |
Het |
Mnat1 |
T |
C |
12: 73,277,479 (GRCm39) |
|
probably benign |
Het |
Mprip |
A |
C |
11: 59,652,016 (GRCm39) |
M1907L |
probably benign |
Het |
Nfu1 |
C |
A |
6: 86,993,254 (GRCm39) |
H131Q |
probably benign |
Het |
Nup188 |
T |
A |
2: 30,213,580 (GRCm39) |
S670R |
probably damaging |
Het |
Or5b120 |
A |
G |
19: 13,480,039 (GRCm39) |
N111D |
probably benign |
Het |
Or8k40 |
T |
C |
2: 86,585,025 (GRCm39) |
D19G |
probably benign |
Het |
Pals2 |
C |
T |
6: 50,139,642 (GRCm39) |
P116L |
probably benign |
Het |
Parp4 |
T |
A |
14: 56,839,861 (GRCm39) |
V523E |
probably damaging |
Het |
Pbrm1 |
T |
A |
14: 30,786,777 (GRCm39) |
D631E |
probably benign |
Het |
Prss40 |
A |
T |
1: 34,591,481 (GRCm39) |
|
probably null |
Het |
Rnf13 |
A |
G |
3: 57,741,033 (GRCm39) |
N274S |
probably damaging |
Het |
Rtl1 |
T |
A |
12: 109,560,381 (GRCm39) |
Y486F |
probably damaging |
Het |
Sec14l3 |
A |
T |
11: 4,025,263 (GRCm39) |
H291L |
possibly damaging |
Het |
Senp5 |
A |
G |
16: 31,802,593 (GRCm39) |
S532P |
probably damaging |
Het |
Sepsecs |
T |
C |
5: 52,804,550 (GRCm39) |
|
probably null |
Het |
Serpina1e |
T |
C |
12: 103,914,338 (GRCm39) |
I329V |
probably benign |
Het |
Slc10a4-ps |
T |
A |
5: 72,743,763 (GRCm39) |
|
probably null |
Het |
Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,773 (GRCm39) |
|
unknown |
Het |
Smc5 |
A |
G |
19: 23,209,247 (GRCm39) |
V639A |
probably benign |
Het |
Speg |
T |
A |
1: 75,399,912 (GRCm39) |
V2453E |
probably damaging |
Het |
Syt2 |
T |
A |
1: 134,671,842 (GRCm39) |
F207I |
probably damaging |
Het |
Tchp |
C |
T |
5: 114,846,857 (GRCm39) |
S48L |
probably benign |
Het |
Trim12a |
A |
G |
7: 103,953,383 (GRCm39) |
S243P |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,628,561 (GRCm39) |
E14533G |
probably damaging |
Het |
Vmn1r50 |
T |
A |
6: 90,084,819 (GRCm39) |
M188K |
probably benign |
Het |
Vps11 |
G |
A |
9: 44,266,376 (GRCm39) |
T437I |
probably damaging |
Het |
Xrn1 |
C |
T |
9: 95,929,843 (GRCm39) |
T1498I |
probably benign |
Het |
Zfp236 |
A |
G |
18: 82,709,701 (GRCm39) |
|
probably null |
Het |
Zfp316 |
T |
C |
5: 143,249,110 (GRCm39) |
D175G |
unknown |
Het |
Zmynd11 |
A |
G |
13: 9,744,366 (GRCm39) |
L256P |
probably damaging |
Het |
|
Other mutations in Duox1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00650:Duox1
|
APN |
2 |
122,163,622 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL00956:Duox1
|
APN |
2 |
122,153,787 (GRCm39) |
missense |
probably benign |
0.42 |
IGL01413:Duox1
|
APN |
2 |
122,151,191 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01444:Duox1
|
APN |
2 |
122,170,571 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01633:Duox1
|
APN |
2 |
122,164,279 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01814:Duox1
|
APN |
2 |
122,176,753 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01868:Duox1
|
APN |
2 |
122,168,888 (GRCm39) |
missense |
probably benign |
|
IGL02096:Duox1
|
APN |
2 |
122,174,655 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02126:Duox1
|
APN |
2 |
122,176,817 (GRCm39) |
missense |
probably benign |
0.21 |
IGL02342:Duox1
|
APN |
2 |
122,177,793 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02687:Duox1
|
APN |
2 |
122,166,896 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02708:Duox1
|
APN |
2 |
122,156,498 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02935:Duox1
|
APN |
2 |
122,155,000 (GRCm39) |
missense |
possibly damaging |
0.56 |
antiquity
|
UTSW |
2 |
122,170,682 (GRCm39) |
missense |
probably damaging |
1.00 |
Dejavous
|
UTSW |
2 |
122,151,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R1706_Duox1_051
|
UTSW |
2 |
122,149,953 (GRCm39) |
missense |
probably benign |
0.01 |
R5032_duox1_732
|
UTSW |
2 |
122,167,798 (GRCm39) |
missense |
probably benign |
|
Vaguely
|
UTSW |
2 |
122,156,616 (GRCm39) |
nonsense |
probably null |
|
D4043:Duox1
|
UTSW |
2 |
122,175,276 (GRCm39) |
missense |
probably benign |
|
R0047:Duox1
|
UTSW |
2 |
122,177,122 (GRCm39) |
unclassified |
probably benign |
|
R0047:Duox1
|
UTSW |
2 |
122,177,122 (GRCm39) |
unclassified |
probably benign |
|
R0241:Duox1
|
UTSW |
2 |
122,163,878 (GRCm39) |
splice site |
probably benign |
|
R0479:Duox1
|
UTSW |
2 |
122,176,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R0834:Duox1
|
UTSW |
2 |
122,176,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R1105:Duox1
|
UTSW |
2 |
122,168,183 (GRCm39) |
missense |
probably damaging |
0.97 |
R1205:Duox1
|
UTSW |
2 |
122,158,406 (GRCm39) |
nonsense |
probably null |
|
R1281:Duox1
|
UTSW |
2 |
122,157,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R1302:Duox1
|
UTSW |
2 |
122,177,760 (GRCm39) |
missense |
probably benign |
0.24 |
R1532:Duox1
|
UTSW |
2 |
122,175,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R1706:Duox1
|
UTSW |
2 |
122,149,953 (GRCm39) |
missense |
probably benign |
0.01 |
R1719:Duox1
|
UTSW |
2 |
122,169,125 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1753:Duox1
|
UTSW |
2 |
122,163,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R1827:Duox1
|
UTSW |
2 |
122,177,861 (GRCm39) |
nonsense |
probably null |
|
R1828:Duox1
|
UTSW |
2 |
122,177,861 (GRCm39) |
nonsense |
probably null |
|
R1940:Duox1
|
UTSW |
2 |
122,156,465 (GRCm39) |
missense |
probably benign |
0.06 |
R1944:Duox1
|
UTSW |
2 |
122,177,001 (GRCm39) |
missense |
probably damaging |
0.99 |
R2069:Duox1
|
UTSW |
2 |
122,163,543 (GRCm39) |
missense |
probably benign |
|
R2113:Duox1
|
UTSW |
2 |
122,167,735 (GRCm39) |
missense |
probably benign |
|
R2202:Duox1
|
UTSW |
2 |
122,175,194 (GRCm39) |
missense |
probably benign |
0.19 |
R2314:Duox1
|
UTSW |
2 |
122,164,211 (GRCm39) |
nonsense |
probably null |
|
R2507:Duox1
|
UTSW |
2 |
122,163,619 (GRCm39) |
missense |
probably benign |
0.34 |
R2508:Duox1
|
UTSW |
2 |
122,163,619 (GRCm39) |
missense |
probably benign |
0.34 |
R3177:Duox1
|
UTSW |
2 |
122,170,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R3277:Duox1
|
UTSW |
2 |
122,170,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R4124:Duox1
|
UTSW |
2 |
122,167,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R4271:Duox1
|
UTSW |
2 |
122,154,856 (GRCm39) |
missense |
probably damaging |
0.96 |
R4411:Duox1
|
UTSW |
2 |
122,168,115 (GRCm39) |
missense |
probably benign |
0.30 |
R4419:Duox1
|
UTSW |
2 |
122,157,607 (GRCm39) |
missense |
probably benign |
|
R4420:Duox1
|
UTSW |
2 |
122,157,607 (GRCm39) |
missense |
probably benign |
|
R4578:Duox1
|
UTSW |
2 |
122,164,258 (GRCm39) |
missense |
probably benign |
0.15 |
R4628:Duox1
|
UTSW |
2 |
122,176,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R4665:Duox1
|
UTSW |
2 |
122,149,956 (GRCm39) |
missense |
probably benign |
0.00 |
R4666:Duox1
|
UTSW |
2 |
122,149,956 (GRCm39) |
missense |
probably benign |
0.00 |
R4730:Duox1
|
UTSW |
2 |
122,164,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R4767:Duox1
|
UTSW |
2 |
122,163,922 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4857:Duox1
|
UTSW |
2 |
122,146,212 (GRCm39) |
missense |
probably benign |
0.05 |
R4904:Duox1
|
UTSW |
2 |
122,151,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R5032:Duox1
|
UTSW |
2 |
122,167,798 (GRCm39) |
missense |
probably benign |
|
R5201:Duox1
|
UTSW |
2 |
122,158,403 (GRCm39) |
missense |
probably benign |
|
R5474:Duox1
|
UTSW |
2 |
122,177,106 (GRCm39) |
missense |
probably benign |
0.02 |
R5835:Duox1
|
UTSW |
2 |
122,158,341 (GRCm39) |
missense |
probably benign |
0.00 |
R5939:Duox1
|
UTSW |
2 |
122,176,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R5941:Duox1
|
UTSW |
2 |
122,174,637 (GRCm39) |
missense |
probably damaging |
0.97 |
R5943:Duox1
|
UTSW |
2 |
122,163,916 (GRCm39) |
missense |
probably benign |
0.00 |
R5970:Duox1
|
UTSW |
2 |
122,170,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R6023:Duox1
|
UTSW |
2 |
122,168,165 (GRCm39) |
missense |
probably benign |
0.19 |
R6050:Duox1
|
UTSW |
2 |
122,149,956 (GRCm39) |
missense |
probably benign |
0.00 |
R6064:Duox1
|
UTSW |
2 |
122,151,243 (GRCm39) |
missense |
probably benign |
0.00 |
R6093:Duox1
|
UTSW |
2 |
122,177,755 (GRCm39) |
missense |
probably benign |
0.01 |
R6188:Duox1
|
UTSW |
2 |
122,150,275 (GRCm39) |
missense |
probably benign |
0.00 |
R6246:Duox1
|
UTSW |
2 |
122,157,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R6259:Duox1
|
UTSW |
2 |
122,175,264 (GRCm39) |
missense |
probably benign |
0.00 |
R6290:Duox1
|
UTSW |
2 |
122,164,288 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6300:Duox1
|
UTSW |
2 |
122,168,181 (GRCm39) |
missense |
probably damaging |
0.99 |
R6341:Duox1
|
UTSW |
2 |
122,168,202 (GRCm39) |
missense |
probably damaging |
0.98 |
R6498:Duox1
|
UTSW |
2 |
122,150,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R6883:Duox1
|
UTSW |
2 |
122,155,065 (GRCm39) |
splice site |
probably null |
|
R7410:Duox1
|
UTSW |
2 |
122,176,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R7421:Duox1
|
UTSW |
2 |
122,153,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R7608:Duox1
|
UTSW |
2 |
122,156,616 (GRCm39) |
nonsense |
probably null |
|
R7702:Duox1
|
UTSW |
2 |
122,160,120 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7766:Duox1
|
UTSW |
2 |
122,167,782 (GRCm39) |
missense |
probably benign |
|
R7833:Duox1
|
UTSW |
2 |
122,154,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R7980:Duox1
|
UTSW |
2 |
122,177,801 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8275:Duox1
|
UTSW |
2 |
122,175,249 (GRCm39) |
missense |
probably benign |
0.02 |
R8717:Duox1
|
UTSW |
2 |
122,168,152 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8992:Duox1
|
UTSW |
2 |
122,175,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R9196:Duox1
|
UTSW |
2 |
122,150,689 (GRCm39) |
missense |
probably benign |
0.08 |
R9344:Duox1
|
UTSW |
2 |
122,168,163 (GRCm39) |
missense |
probably benign |
0.14 |
R9397:Duox1
|
UTSW |
2 |
122,150,783 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9491:Duox1
|
UTSW |
2 |
122,156,907 (GRCm39) |
missense |
probably benign |
0.01 |
R9510:Duox1
|
UTSW |
2 |
122,160,023 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9521:Duox1
|
UTSW |
2 |
122,159,216 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9562:Duox1
|
UTSW |
2 |
122,151,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R9565:Duox1
|
UTSW |
2 |
122,151,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R9569:Duox1
|
UTSW |
2 |
122,148,971 (GRCm39) |
missense |
probably benign |
|
Z1176:Duox1
|
UTSW |
2 |
122,163,519 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTGCTGCCCTTTCAAAG -3'
(R):5'- AGTTGCCCCTTCTCCAGTACAG -3'
Sequencing Primer
(F):5'- TTTCAAAGGAGCCGCTGG -3'
(R):5'- TTCTCCAGTACAGGACCCC -3'
|
Posted On |
2019-05-13 |