Incidental Mutation 'R1944:Duox1'
| ID |
216425 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Duox1
|
| Ensembl Gene |
ENSMUSG00000033268 |
| Gene Name |
dual oxidase 1 |
| Synonyms |
NOXEF1, LNOX1, 9930101G15Rik, THOX1 |
| MMRRC Submission |
039962-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1944 (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 T
at 122177001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 1476
(Q1476L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048635]
[ENSMUST00000099461]
[ENSMUST00000110530]
[ENSMUST00000110531]
[ENSMUST00000110532]
[ENSMUST00000121237]
[ENSMUST00000125826]
[ENSMUST00000139819]
|
| AlphaFold |
A2AQ92 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048635
|
| SMART Domains |
Protein: ENSMUSP00000045135
Gene: ENSMUSG00000033256
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
67 |
N/A |
INTRINSIC |
|
SH2
|
136 |
220 |
9.16e-27 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099461
AA Change: Q1476L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097060
Gene: ENSMUSG00000033268
AA Change: Q1476L
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110530
|
| SMART Domains |
Protein: ENSMUSP00000106159
Gene: ENSMUSG00000033256
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
61 |
N/A |
INTRINSIC |
|
SH2
|
130 |
214 |
9.16e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110531
|
| SMART Domains |
Protein: ENSMUSP00000106160
Gene: ENSMUSG00000033256
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
67 |
N/A |
INTRINSIC |
|
SH2
|
136 |
220 |
9.16e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110532
|
| SMART Domains |
Protein: ENSMUSP00000106161
Gene: ENSMUSG00000033256
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
146 |
165 |
N/A |
INTRINSIC |
|
Blast:SH2
|
225 |
278 |
2e-22 |
BLAST |
|
SCOP:d1ayaa_
|
237 |
291 |
1e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121237
|
| SMART Domains |
Protein: ENSMUSP00000113923
Gene: ENSMUSG00000033256
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
61 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125826
|
| SMART Domains |
Protein: ENSMUSP00000117099
Gene: ENSMUSG00000033256
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
275 |
N/A |
INTRINSIC |
|
SH2
|
344 |
428 |
9.16e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135848
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139819
|
| SMART Domains |
Protein: ENSMUSP00000119980
Gene: ENSMUSG00000033256
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
149 |
163 |
N/A |
INTRINSIC |
|
SH2
|
218 |
302 |
9.16e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151130
|
| SMART Domains |
Protein: ENSMUSP00000114524
Gene: ENSMUSG00000033256
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
267 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143484
|
| SMART Domains |
Protein: ENSMUSP00000120732
Gene: ENSMUSG00000033256
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
33 |
N/A |
INTRINSIC |
|
SH2
|
71 |
155 |
3.19e-26 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| 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: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,980,796 (GRCm39) |
N593Y |
probably damaging |
Het |
| Adamts16 |
C |
T |
13: 70,940,005 (GRCm39) |
S406N |
possibly damaging |
Het |
| Adgrg1 |
G |
A |
8: 95,733,928 (GRCm39) |
V350I |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,659,030 (GRCm39) |
D2051E |
probably damaging |
Het |
| Adrb2 |
C |
A |
18: 62,312,484 (GRCm39) |
V114L |
probably damaging |
Het |
| Ago3 |
A |
G |
4: 126,247,520 (GRCm39) |
V599A |
probably damaging |
Het |
| AI837181 |
T |
C |
19: 5,476,257 (GRCm39) |
V140A |
probably damaging |
Het |
| Ankrd16 |
T |
A |
2: 11,788,443 (GRCm39) |
|
probably null |
Het |
| Arnt2 |
A |
G |
7: 83,992,959 (GRCm39) |
S194P |
probably benign |
Het |
| Art2b |
T |
C |
7: 101,229,153 (GRCm39) |
N249D |
probably benign |
Het |
| Atat1 |
A |
G |
17: 36,220,232 (GRCm39) |
L60P |
probably damaging |
Het |
| Atp2b1 |
A |
T |
10: 98,858,793 (GRCm39) |
I1159F |
probably damaging |
Het |
| Atrip |
T |
A |
9: 108,900,935 (GRCm39) |
I135F |
probably damaging |
Het |
| Bbs4 |
T |
G |
9: 59,237,698 (GRCm39) |
|
probably null |
Het |
| Bdp1 |
A |
T |
13: 100,210,889 (GRCm39) |
|
probably null |
Het |
| Best2 |
A |
G |
8: 85,737,390 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
A |
G |
6: 118,583,227 (GRCm39) |
I1516T |
probably damaging |
Het |
| Cadps2 |
T |
C |
6: 23,599,479 (GRCm39) |
I276V |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,736,087 (GRCm39) |
S610P |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,719,745 (GRCm39) |
I375V |
probably damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,101,009 (GRCm39) |
P30S |
probably damaging |
Het |
| Ccdc92b |
A |
G |
11: 74,520,835 (GRCm39) |
I46V |
probably benign |
Het |
| Clec11a |
G |
T |
7: 43,954,098 (GRCm39) |
T285K |
probably benign |
Het |
| Clk3 |
G |
T |
9: 57,672,469 (GRCm39) |
T111K |
probably benign |
Het |
| Col6a6 |
G |
A |
9: 105,586,583 (GRCm39) |
R1813C |
probably damaging |
Het |
| Col7a1 |
G |
A |
9: 108,789,078 (GRCm39) |
V798I |
unknown |
Het |
| Ctrb1 |
C |
A |
8: 112,416,151 (GRCm39) |
W45L |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,283,349 (GRCm39) |
S3530C |
probably benign |
Het |
| Dio1 |
A |
G |
4: 107,163,977 (GRCm39) |
|
probably null |
Het |
| Dock5 |
A |
T |
14: 67,994,584 (GRCm39) |
Y1825* |
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,001,377 (GRCm39) |
H3877Q |
probably damaging |
Het |
| Enkd1 |
A |
G |
8: 106,434,208 (GRCm39) |
S85P |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,794,758 (GRCm39) |
D139G |
probably benign |
Het |
| Ern1 |
A |
G |
11: 106,312,776 (GRCm39) |
S202P |
probably damaging |
Het |
| F11r |
T |
C |
1: 171,289,459 (GRCm39) |
Y261H |
probably damaging |
Het |
| Glp2r |
A |
T |
11: 67,637,618 (GRCm39) |
S138T |
probably benign |
Het |
| Gpt2 |
A |
G |
8: 86,244,625 (GRCm39) |
Y306C |
probably damaging |
Het |
| Grid2 |
G |
C |
6: 63,886,045 (GRCm39) |
R147P |
probably damaging |
Het |
| Gtdc1 |
A |
G |
2: 44,642,198 (GRCm39) |
F128L |
possibly damaging |
Het |
| H2-T15 |
A |
G |
17: 36,368,897 (GRCm39) |
F61S |
probably damaging |
Het |
| Hacd4 |
T |
C |
4: 88,341,303 (GRCm39) |
T154A |
possibly damaging |
Het |
| Heatr6 |
G |
T |
11: 83,660,046 (GRCm39) |
L530F |
probably damaging |
Het |
| Hoxd8 |
A |
T |
2: 74,537,056 (GRCm39) |
D256V |
probably damaging |
Het |
| Ints6 |
T |
C |
14: 62,931,089 (GRCm39) |
N865D |
probably benign |
Het |
| Itpkc |
G |
T |
7: 26,927,084 (GRCm39) |
P277T |
possibly damaging |
Het |
| Klc4 |
T |
C |
17: 46,947,553 (GRCm39) |
N383S |
probably damaging |
Het |
| Klra6 |
T |
C |
6: 129,995,908 (GRCm39) |
Y150C |
possibly damaging |
Het |
| Krt32 |
T |
A |
11: 99,975,670 (GRCm39) |
|
probably null |
Het |
| Krt33a |
T |
C |
11: 99,903,535 (GRCm39) |
N199S |
probably benign |
Het |
| Krt39 |
A |
C |
11: 99,410,649 (GRCm39) |
D174E |
probably damaging |
Het |
| Krt82 |
G |
A |
15: 101,456,970 (GRCm39) |
R137W |
probably damaging |
Het |
| Lgmn |
A |
T |
12: 102,368,183 (GRCm39) |
S193T |
probably damaging |
Het |
| Limch1 |
G |
A |
5: 67,156,442 (GRCm39) |
R300H |
probably damaging |
Het |
| Lrpap1 |
T |
A |
5: 35,254,974 (GRCm39) |
I221F |
probably benign |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,264,459 (GRCm39) |
D4883G |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,973,524 (GRCm39) |
V485A |
probably benign |
Het |
| Map3k19 |
T |
C |
1: 127,750,859 (GRCm39) |
T831A |
probably benign |
Het |
| Mdfic2 |
A |
G |
6: 98,225,151 (GRCm39) |
I44T |
probably benign |
Het |
| Megf6 |
C |
G |
4: 154,340,523 (GRCm39) |
D471E |
possibly damaging |
Het |
| Mettl8 |
A |
T |
2: 70,803,623 (GRCm39) |
F268L |
probably damaging |
Het |
| Miip |
T |
C |
4: 147,950,422 (GRCm39) |
E58G |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,466,840 (GRCm39) |
S1308C |
probably damaging |
Het |
| Myo15a |
T |
C |
11: 60,392,909 (GRCm39) |
F2194L |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,552,391 (GRCm39) |
N1817S |
probably damaging |
Het |
| Ndel1 |
A |
T |
11: 68,720,746 (GRCm39) |
H313Q |
probably benign |
Het |
| Neb |
A |
T |
2: 52,118,862 (GRCm39) |
H3931Q |
probably benign |
Het |
| Nfkb2 |
T |
A |
19: 46,296,491 (GRCm39) |
V253E |
probably damaging |
Het |
| Niban1 |
T |
C |
1: 151,571,979 (GRCm39) |
I308T |
probably damaging |
Het |
| Nono |
T |
C |
X: 100,485,429 (GRCm39) |
|
probably null |
Het |
| Npc1l1 |
T |
A |
11: 6,164,588 (GRCm39) |
I1154F |
possibly damaging |
Het |
| Nr2e1 |
T |
C |
10: 42,448,774 (GRCm39) |
T155A |
probably benign |
Het |
| Oosp2 |
C |
T |
19: 11,626,959 (GRCm39) |
|
probably null |
Het |
| Or2b2 |
A |
T |
13: 21,887,287 (GRCm39) |
I39F |
possibly damaging |
Het |
| Pdap1 |
G |
A |
5: 145,069,726 (GRCm39) |
T93I |
probably benign |
Het |
| Pde6c |
T |
A |
19: 38,145,967 (GRCm39) |
D418E |
probably damaging |
Het |
| Pdha1 |
T |
A |
X: 158,910,354 (GRCm39) |
D255V |
probably damaging |
Het |
| Polr2h |
T |
A |
16: 20,537,796 (GRCm39) |
D64E |
probably benign |
Het |
| Psmb3 |
T |
C |
11: 97,601,981 (GRCm39) |
F117S |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,418,249 (GRCm39) |
M1709K |
probably benign |
Het |
| Rbm15 |
C |
T |
3: 107,238,868 (GRCm39) |
R510H |
probably damaging |
Het |
| Rgs7 |
A |
T |
1: 174,980,769 (GRCm39) |
M85K |
possibly damaging |
Het |
| Rpl27-ps3 |
T |
A |
18: 6,332,669 (GRCm39) |
V13D |
probably damaging |
Het |
| Rtp2 |
T |
A |
16: 23,746,316 (GRCm39) |
D105V |
possibly damaging |
Het |
| Scd3 |
T |
C |
19: 44,224,219 (GRCm39) |
Y151H |
probably benign |
Het |
| Slc30a6 |
T |
G |
17: 74,715,858 (GRCm39) |
V106G |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,785,276 (GRCm39) |
I105V |
probably benign |
Het |
| Sun3 |
T |
C |
11: 8,988,296 (GRCm39) |
I9V |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,121,318 (GRCm39) |
V5928A |
probably damaging |
Het |
| Tbr1 |
T |
A |
2: 61,642,600 (GRCm39) |
S622T |
probably damaging |
Het |
| Tgm3 |
A |
G |
2: 129,871,889 (GRCm39) |
N306D |
probably damaging |
Het |
| Tmem132d |
A |
G |
5: 127,860,828 (GRCm39) |
*1098Q |
probably null |
Het |
| Tmem140 |
T |
C |
6: 34,849,747 (GRCm39) |
Y88H |
probably damaging |
Het |
| Trim60 |
A |
T |
8: 65,453,964 (GRCm39) |
V95E |
possibly damaging |
Het |
| Vamp3 |
A |
G |
4: 151,140,617 (GRCm39) |
|
probably null |
Het |
| Vmn1r235 |
A |
C |
17: 21,481,785 (GRCm39) |
T37P |
probably damaging |
Het |
| Vmn2r81 |
T |
G |
10: 79,129,571 (GRCm39) |
L821V |
probably damaging |
Het |
| Vmn2r97 |
A |
G |
17: 19,160,500 (GRCm39) |
D545G |
probably benign |
Het |
| Vps13c |
A |
T |
9: 67,793,558 (GRCm39) |
D437V |
probably damaging |
Het |
| Wtip |
A |
T |
7: 33,818,363 (GRCm39) |
M268K |
probably benign |
Het |
| Zfhx2 |
G |
T |
14: 55,312,189 (GRCm39) |
F168L |
probably benign |
Het |
| Zscan22 |
G |
A |
7: 12,637,767 (GRCm39) |
R53K |
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 |
|
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 |
|
|
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'- ACCTGGTGTCTGTGCACATC -3'
(R):5'- GATGACTTCTCAGCAGTAACCAGTTG -3'
Sequencing Primer
(F):5'- GTGCACATCTATATTACTCAGCTGG -3'
(R):5'- TCCTTGATAGACTAGGATTGAGAGC -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation