Incidental Mutation 'R4904:Duox1'
ID |
430226 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Duox1
|
Ensembl Gene |
ENSMUSG00000033268 |
Gene Name |
dual oxidase 1 |
Synonyms |
NOXEF1, LNOX1, 9930101G15Rik, THOX1 |
MMRRC Submission |
042507-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4904 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
122146153-122178453 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 122151345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 310
(Y310N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097060
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099461]
|
AlphaFold |
A2AQ92 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099461
AA Change: Y310N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097060 Gene: ENSMUSG00000033268 AA Change: Y310N
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 |
|
Meta Mutation Damage Score |
0.9437 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
Validation Efficiency |
94% (82/87) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb2 |
T |
G |
4: 129,906,332 (GRCm39) |
I920S |
possibly damaging |
Het |
Afap1l1 |
A |
G |
18: 61,871,786 (GRCm39) |
I556T |
probably benign |
Het |
Ankfy1 |
C |
A |
11: 72,642,931 (GRCm39) |
H665N |
probably benign |
Het |
Aqp9 |
A |
C |
9: 71,069,685 (GRCm39) |
|
probably benign |
Het |
Arhgap21 |
A |
G |
2: 20,854,872 (GRCm39) |
S1497P |
probably benign |
Het |
Armc7 |
A |
G |
11: 115,379,800 (GRCm39) |
D166G |
probably damaging |
Het |
Arrdc1 |
C |
A |
2: 24,816,676 (GRCm39) |
V167F |
possibly damaging |
Het |
Col6a3 |
A |
T |
1: 90,729,164 (GRCm39) |
I1259N |
probably damaging |
Het |
Coq8a |
C |
T |
1: 180,006,168 (GRCm39) |
R207Q |
probably damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Dcbld1 |
C |
T |
10: 52,196,066 (GRCm39) |
Q425* |
probably null |
Het |
Def8 |
A |
G |
8: 124,188,219 (GRCm39) |
N445D |
probably damaging |
Het |
Dicer1 |
C |
T |
12: 104,679,325 (GRCm39) |
V551I |
probably benign |
Het |
Dst |
A |
T |
1: 34,208,879 (GRCm39) |
T800S |
probably damaging |
Het |
Dtl |
A |
T |
1: 191,300,457 (GRCm39) |
C136S |
probably damaging |
Het |
Duxf1 |
T |
A |
10: 58,059,309 (GRCm39) |
R482* |
probably null |
Het |
Ebf1 |
T |
C |
11: 44,759,996 (GRCm39) |
F211S |
probably damaging |
Het |
Gm44501 |
A |
T |
17: 40,889,884 (GRCm39) |
I133F |
possibly damaging |
Het |
Gm6625 |
T |
C |
8: 89,873,379 (GRCm39) |
|
noncoding transcript |
Het |
Golgb1 |
A |
T |
16: 36,713,748 (GRCm39) |
D243V |
probably damaging |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Gtf2a1l |
G |
A |
17: 88,997,471 (GRCm39) |
|
probably null |
Het |
Herc2 |
T |
C |
7: 55,807,234 (GRCm39) |
F2471L |
probably damaging |
Het |
Hfe |
A |
T |
13: 23,892,037 (GRCm39) |
I109N |
probably damaging |
Het |
Hrg |
A |
G |
16: 22,770,000 (GRCm39) |
E43G |
probably benign |
Het |
Hspa1a |
T |
C |
17: 35,189,427 (GRCm39) |
D492G |
probably damaging |
Het |
Itgb8 |
T |
C |
12: 119,134,606 (GRCm39) |
D487G |
probably benign |
Het |
Jag1 |
A |
G |
2: 136,929,062 (GRCm39) |
V798A |
probably damaging |
Het |
Kcnq5 |
A |
G |
1: 21,494,324 (GRCm39) |
V501A |
probably damaging |
Het |
Kntc1 |
T |
C |
5: 123,916,396 (GRCm39) |
V743A |
possibly damaging |
Het |
Ly86 |
G |
T |
13: 37,599,496 (GRCm39) |
V126F |
possibly damaging |
Het |
Med26 |
A |
T |
8: 73,250,691 (GRCm39) |
L136H |
probably damaging |
Het |
Mpp3 |
T |
C |
11: 101,891,413 (GRCm39) |
D575G |
probably benign |
Het |
Myoc |
G |
A |
1: 162,466,994 (GRCm39) |
M54I |
probably benign |
Het |
Nlrp1c-ps |
A |
G |
11: 71,133,454 (GRCm39) |
|
noncoding transcript |
Het |
Or10v9 |
C |
T |
19: 11,833,231 (GRCm39) |
V29M |
possibly damaging |
Het |
Or51t4 |
A |
G |
7: 102,598,272 (GRCm39) |
Y190C |
probably damaging |
Het |
Or5v1b |
A |
G |
17: 37,841,522 (GRCm39) |
Y218C |
probably damaging |
Het |
Pak5 |
A |
T |
2: 135,925,267 (GRCm39) |
D678E |
probably benign |
Het |
Pcdhb12 |
T |
C |
18: 37,570,909 (GRCm39) |
V685A |
possibly damaging |
Het |
Pcdhga2 |
A |
G |
18: 37,802,932 (GRCm39) |
T259A |
possibly damaging |
Het |
Pde6a |
A |
T |
18: 61,398,105 (GRCm39) |
M702L |
probably benign |
Het |
Pigq |
A |
G |
17: 26,150,034 (GRCm39) |
|
probably benign |
Het |
Polrmt |
A |
G |
10: 79,582,385 (GRCm39) |
M1T |
probably null |
Het |
Ptch1 |
A |
C |
13: 63,670,818 (GRCm39) |
I904S |
probably damaging |
Het |
Rflnb |
A |
T |
11: 75,912,964 (GRCm39) |
C141* |
probably null |
Het |
Rilpl1 |
C |
A |
5: 124,652,807 (GRCm39) |
|
probably null |
Het |
Rpgrip1 |
T |
C |
14: 52,358,544 (GRCm39) |
S217P |
possibly damaging |
Het |
Rpgrip1 |
A |
T |
14: 52,397,586 (GRCm39) |
I1292F |
probably damaging |
Het |
Sema3a |
A |
C |
5: 13,631,066 (GRCm39) |
Y534S |
probably damaging |
Het |
Sez6 |
A |
G |
11: 77,866,080 (GRCm39) |
Y736C |
probably damaging |
Het |
Shank1 |
G |
T |
7: 43,983,464 (GRCm39) |
|
probably benign |
Het |
Slc45a4 |
G |
A |
15: 73,458,691 (GRCm39) |
S294F |
probably benign |
Het |
Slc9a8 |
A |
G |
2: 167,313,316 (GRCm39) |
I393V |
possibly damaging |
Het |
Sod1 |
T |
A |
16: 90,019,732 (GRCm39) |
F46Y |
probably damaging |
Het |
Sult1b1 |
T |
C |
5: 87,682,912 (GRCm39) |
D11G |
probably benign |
Het |
Syn3 |
T |
G |
10: 86,302,950 (GRCm39) |
K68N |
possibly damaging |
Het |
Taar8c |
C |
T |
10: 23,977,147 (GRCm39) |
V222I |
probably benign |
Het |
Tbx20 |
T |
C |
9: 24,670,129 (GRCm39) |
K235E |
probably damaging |
Het |
Tcaf3 |
C |
A |
6: 42,570,931 (GRCm39) |
E274* |
probably null |
Het |
Tll1 |
A |
T |
8: 64,523,233 (GRCm39) |
M493K |
probably benign |
Het |
Tmem236 |
T |
A |
2: 14,200,803 (GRCm39) |
S123T |
probably benign |
Het |
Trim33 |
T |
C |
3: 103,238,963 (GRCm39) |
V647A |
possibly damaging |
Het |
Tspear |
T |
A |
10: 77,705,489 (GRCm39) |
Y296N |
possibly damaging |
Het |
Vps13d |
T |
C |
4: 144,882,015 (GRCm39) |
K1187E |
probably damaging |
Het |
Xpot |
C |
T |
10: 121,453,083 (GRCm39) |
V52I |
probably benign |
Het |
Zdhhc3 |
A |
T |
9: 122,929,452 (GRCm39) |
V61E |
probably damaging |
Het |
Zfp955a |
A |
T |
17: 33,461,162 (GRCm39) |
C323* |
probably null |
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 |
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 |
|
R7002:Duox1
|
UTSW |
2 |
122,150,358 (GRCm39) |
nonsense |
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'- GTCCTCGTGTCTACCTGTAAG -3'
(R):5'- CTGAGAACTCCTGAAGGCAG -3'
Sequencing Primer
(F):5'- TCAGGGCTAGTCCTACACACG -3'
(R):5'- GAACTCCTGAAGGCAGATTTTTATC -3'
|
Posted On |
2016-09-26 |