Incidental Mutation 'R4578:Duox1'
ID |
343378 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Duox1
|
Ensembl Gene |
ENSMUSG00000033268 |
Gene Name |
dual oxidase 1 |
Synonyms |
NOXEF1, LNOX1, 9930101G15Rik, THOX1 |
MMRRC Submission |
041800-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4578 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
122146153-122178453 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122164258 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 906
(E906G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097060
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099461]
|
AlphaFold |
A2AQ92 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099461
AA Change: E906G
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000097060 Gene: ENSMUSG00000033268 AA Change: E906G
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
T |
5: 109,884,537 (GRCm39) |
Y440* |
probably null |
Het |
Aldh3b3 |
A |
T |
19: 4,014,832 (GRCm39) |
T110S |
probably benign |
Het |
Atp2b2 |
T |
C |
6: 113,737,672 (GRCm39) |
T901A |
probably damaging |
Het |
Auts2 |
C |
T |
5: 132,287,773 (GRCm39) |
G70E |
probably benign |
Het |
Bfar |
A |
T |
16: 13,505,307 (GRCm39) |
I106F |
probably benign |
Het |
Btbd10 |
T |
G |
7: 112,921,959 (GRCm39) |
I301L |
possibly damaging |
Het |
Card14 |
G |
A |
11: 119,217,567 (GRCm39) |
R400H |
probably benign |
Het |
Ccdc80 |
A |
G |
16: 44,915,849 (GRCm39) |
R202G |
probably damaging |
Het |
Cimip2a |
T |
C |
2: 25,110,300 (GRCm39) |
S71P |
probably benign |
Het |
Cmtm7 |
A |
C |
9: 114,592,351 (GRCm39) |
I82S |
probably benign |
Het |
Cngb3 |
T |
A |
4: 19,425,613 (GRCm39) |
W474R |
probably damaging |
Het |
Coq9 |
T |
C |
8: 95,580,234 (GRCm39) |
V285A |
probably benign |
Het |
Cp |
A |
G |
3: 20,028,052 (GRCm39) |
E486G |
probably damaging |
Het |
Crybg3 |
C |
T |
16: 59,350,564 (GRCm39) |
C892Y |
probably damaging |
Het |
Cttn |
A |
T |
7: 144,008,453 (GRCm39) |
F176L |
probably damaging |
Het |
Cytip |
T |
A |
2: 58,050,024 (GRCm39) |
N15I |
possibly damaging |
Het |
Dgkb |
A |
G |
12: 38,477,492 (GRCm39) |
E634G |
possibly damaging |
Het |
Efcab6 |
A |
T |
15: 83,817,369 (GRCm39) |
S735T |
probably benign |
Het |
Elfn1 |
T |
C |
5: 139,957,808 (GRCm39) |
S271P |
probably benign |
Het |
Ep300 |
T |
C |
15: 81,533,210 (GRCm39) |
S1756P |
unknown |
Het |
Ep300 |
T |
A |
15: 81,495,611 (GRCm39) |
|
probably benign |
Het |
Ercc5 |
T |
A |
1: 44,187,308 (GRCm39) |
V29E |
probably benign |
Het |
Frmd4a |
C |
A |
2: 4,608,490 (GRCm39) |
A786E |
possibly damaging |
Het |
Ftcd |
A |
C |
10: 76,425,092 (GRCm39) |
E524D |
probably benign |
Het |
Gfod2 |
T |
C |
8: 106,454,878 (GRCm39) |
M1V |
probably null |
Het |
Gm12790 |
T |
C |
4: 101,825,324 (GRCm39) |
D30G |
probably benign |
Het |
Gsta4 |
A |
T |
9: 78,113,302 (GRCm39) |
R127S |
probably benign |
Het |
Hcn2 |
G |
A |
10: 79,560,282 (GRCm39) |
|
probably null |
Het |
Hectd1 |
A |
G |
12: 51,798,715 (GRCm39) |
V2135A |
probably damaging |
Het |
Hoxc6 |
A |
G |
15: 102,918,093 (GRCm39) |
D19G |
probably benign |
Het |
Hydin |
A |
T |
8: 110,993,971 (GRCm39) |
T2S |
unknown |
Het |
Ifna14 |
A |
T |
4: 88,489,747 (GRCm39) |
S97T |
possibly damaging |
Het |
Igkv17-127 |
T |
C |
6: 67,838,183 (GRCm39) |
L14P |
unknown |
Het |
Il17rb |
A |
G |
14: 29,724,356 (GRCm39) |
V166A |
probably damaging |
Het |
Iqca1 |
T |
A |
1: 90,001,472 (GRCm39) |
I520F |
probably damaging |
Het |
Kcnv2 |
G |
T |
19: 27,300,994 (GRCm39) |
V282L |
probably benign |
Het |
Klk12 |
A |
G |
7: 43,422,667 (GRCm39) |
D198G |
probably damaging |
Het |
Kntc1 |
T |
G |
5: 123,904,018 (GRCm39) |
L345R |
probably damaging |
Het |
Lrfn5 |
A |
G |
12: 61,890,763 (GRCm39) |
D684G |
probably benign |
Het |
Mef2a |
T |
C |
7: 66,890,187 (GRCm39) |
N131S |
probably benign |
Het |
Mis18bp1 |
T |
C |
12: 65,200,655 (GRCm39) |
Y124C |
probably damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Myh2 |
T |
A |
11: 67,064,084 (GRCm39) |
V48D |
possibly damaging |
Het |
Nat10 |
A |
G |
2: 103,584,417 (GRCm39) |
M120T |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,336,585 (GRCm39) |
S1065P |
probably damaging |
Het |
Nfib |
A |
T |
4: 82,215,048 (GRCm39) |
S518R |
probably damaging |
Het |
Pced1a |
A |
C |
2: 130,264,596 (GRCm39) |
L78R |
probably damaging |
Het |
Peli3 |
T |
C |
19: 4,984,486 (GRCm39) |
D192G |
probably benign |
Het |
Plb1 |
C |
T |
5: 32,404,901 (GRCm39) |
Q20* |
probably null |
Het |
Pomgnt2 |
G |
A |
9: 121,812,131 (GRCm39) |
R217C |
probably damaging |
Het |
Ptprd |
C |
T |
4: 76,162,023 (GRCm39) |
V78I |
possibly damaging |
Het |
Rngtt |
A |
G |
4: 33,339,050 (GRCm39) |
E285G |
probably benign |
Het |
Sclt1 |
G |
A |
3: 41,625,900 (GRCm39) |
Q356* |
probably null |
Het |
Scn2b |
T |
C |
9: 45,037,460 (GRCm39) |
F169S |
possibly damaging |
Het |
Sfta2 |
C |
T |
17: 35,960,775 (GRCm39) |
|
probably benign |
Het |
Srpra |
T |
C |
9: 35,125,904 (GRCm39) |
I394T |
possibly damaging |
Het |
Sspo |
A |
C |
6: 48,440,307 (GRCm39) |
D1541A |
possibly damaging |
Het |
Strc |
G |
A |
2: 121,208,484 (GRCm39) |
L296F |
possibly damaging |
Het |
Svop |
C |
T |
5: 114,203,743 (GRCm39) |
V13M |
probably damaging |
Het |
Taf6l |
C |
A |
19: 8,761,335 (GRCm39) |
R10L |
possibly damaging |
Het |
Tbx3 |
G |
T |
5: 119,820,841 (GRCm39) |
R617L |
probably damaging |
Het |
Tnrc6a |
A |
G |
7: 122,783,444 (GRCm39) |
R1471G |
possibly damaging |
Het |
Togaram1 |
T |
C |
12: 65,067,100 (GRCm39) |
L1714P |
probably damaging |
Het |
Traf3ip2 |
A |
G |
10: 39,510,650 (GRCm39) |
N308D |
probably damaging |
Het |
Trim30b |
T |
C |
7: 104,006,538 (GRCm39) |
Y106C |
possibly damaging |
Het |
Vcp |
A |
T |
4: 42,984,565 (GRCm39) |
M442K |
probably benign |
Het |
Vmn2r16 |
A |
T |
5: 109,511,665 (GRCm39) |
Y624F |
possibly damaging |
Het |
Vmn2r52 |
A |
T |
7: 9,904,617 (GRCm39) |
H407Q |
probably damaging |
Het |
Vps13a |
A |
T |
19: 16,659,474 (GRCm39) |
D1684E |
probably damaging |
Het |
Wdr49 |
T |
C |
3: 75,242,550 (GRCm39) |
M380V |
probably benign |
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 |
|
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 |
|
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'- ACGGTCTCATTTCCAAGGATG -3'
(R):5'- AAGTGTTTCTGTGGGTTCCTAAAAG -3'
Sequencing Primer
(F):5'- TCCAAGGATGAGTTCATTAGGATGC -3'
(R):5'- CTGTGGGTTCCTAAAAGTATATAGGG -3'
|
Posted On |
2015-09-24 |