Incidental Mutation 'R8992:Duox1'
| ID |
684454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Duox1
|
| Ensembl Gene |
ENSMUSG00000033268 |
| Gene Name |
dual oxidase 1 |
| Synonyms |
NOXEF1, LNOX1, 9930101G15Rik, THOX1 |
| MMRRC Submission |
068823-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8992 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
122146153-122178453 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122175186 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 1328
(H1328L)
|
| 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: H1328L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097060
Gene: ENSMUSG00000033268
AA Change: H1328L
| 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 |
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: 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.6505 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (75/75) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd14b |
A |
G |
9: 106,328,817 (GRCm39) |
D146G |
probably benign |
Het |
| Abhd6 |
T |
A |
14: 8,028,282 (GRCm38) |
D4E |
probably benign |
Het |
| Atp5if1 |
T |
C |
4: 132,260,685 (GRCm39) |
D34G |
probably benign |
Het |
| Bcr |
T |
C |
10: 74,967,404 (GRCm39) |
F546S |
probably damaging |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Ccdc141 |
A |
T |
2: 76,844,739 (GRCm39) |
W1443R |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,839,589 (GRCm39) |
D1375G |
probably damaging |
Het |
| Chi3l1 |
A |
T |
1: 134,115,662 (GRCm39) |
Q223H |
probably benign |
Het |
| Clcn2 |
A |
T |
16: 20,531,080 (GRCm39) |
F260I |
probably damaging |
Het |
| Cpq |
A |
T |
15: 33,594,381 (GRCm39) |
D464V |
probably benign |
Het |
| Crygb |
T |
C |
1: 65,121,300 (GRCm39) |
D9G |
probably damaging |
Het |
| Cyp2b10 |
A |
G |
7: 25,624,815 (GRCm39) |
K438E |
unknown |
Het |
| Cyp46a1 |
A |
T |
12: 108,324,366 (GRCm39) |
D381V |
possibly damaging |
Het |
| Dhx40 |
A |
C |
11: 86,667,582 (GRCm39) |
|
probably benign |
Het |
| Dnase2b |
G |
T |
3: 146,292,717 (GRCm39) |
P152Q |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Fam168b |
A |
G |
1: 34,858,862 (GRCm39) |
F102L |
probably benign |
Het |
| Fam3b |
T |
A |
16: 97,277,594 (GRCm39) |
D128V |
probably damaging |
Het |
| Galnt11 |
T |
G |
5: 25,469,983 (GRCm39) |
H527Q |
possibly damaging |
Het |
| Gbp2b |
A |
T |
3: 142,316,730 (GRCm39) |
R460S |
probably benign |
Het |
| Hdhd2 |
A |
C |
18: 77,058,366 (GRCm39) |
S246R |
possibly damaging |
Het |
| Heatr1 |
T |
C |
13: 12,415,995 (GRCm39) |
M189T |
probably damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,810,251 (GRCm39) |
C611S |
probably benign |
Het |
| Ino80 |
A |
G |
2: 119,210,059 (GRCm39) |
S1411P |
possibly damaging |
Het |
| Jakmip1 |
A |
G |
5: 37,274,882 (GRCm39) |
T467A |
probably benign |
Het |
| Kcnh2 |
A |
G |
5: 24,536,868 (GRCm39) |
S239P |
probably benign |
Het |
| Lct |
T |
A |
1: 128,228,299 (GRCm39) |
T1065S |
probably damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,787,227 (GRCm39) |
D41G |
probably benign |
Het |
| Mfsd2b |
A |
T |
12: 4,921,490 (GRCm39) |
D26E |
probably benign |
Het |
| Myh1 |
A |
T |
11: 67,096,607 (GRCm39) |
M333L |
probably benign |
Het |
| Neurl4 |
T |
C |
11: 69,798,958 (GRCm39) |
V855A |
possibly damaging |
Het |
| Nfkb2 |
T |
A |
19: 46,295,304 (GRCm39) |
V80D |
probably damaging |
Het |
| Nop9 |
T |
C |
14: 55,983,438 (GRCm39) |
S70P |
possibly damaging |
Het |
| Or2t46 |
A |
G |
11: 58,471,738 (GRCm39) |
S23G |
probably benign |
Het |
| Pcdhb14 |
G |
T |
18: 37,582,231 (GRCm39) |
D446Y |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,719,325 (GRCm39) |
A1154V |
unknown |
Het |
| Pdgfa |
G |
T |
5: 138,971,977 (GRCm39) |
Q141K |
probably damaging |
Het |
| Plekhh1 |
G |
T |
12: 79,122,307 (GRCm39) |
L1133F |
probably damaging |
Het |
| Pole |
A |
T |
5: 110,471,488 (GRCm39) |
N1411Y |
possibly damaging |
Het |
| Primpol |
A |
G |
8: 47,034,597 (GRCm39) |
|
probably benign |
Het |
| Psmc5 |
T |
G |
11: 106,152,787 (GRCm39) |
V203G |
probably damaging |
Het |
| Ptgdr |
C |
T |
14: 45,096,181 (GRCm39) |
C177Y |
probably damaging |
Het |
| Ptgir |
A |
T |
7: 16,641,220 (GRCm39) |
I171F |
probably damaging |
Het |
| Ptprg |
T |
A |
14: 12,154,170 (GRCm38) |
H630Q |
probably benign |
Het |
| Ptrh2 |
A |
G |
11: 86,580,907 (GRCm39) |
T175A |
possibly damaging |
Het |
| Ralgapb |
A |
G |
2: 158,296,197 (GRCm39) |
T857A |
probably damaging |
Het |
| Rnf24 |
A |
G |
2: 131,155,197 (GRCm39) |
F10S |
possibly damaging |
Het |
| Rreb1 |
C |
A |
13: 38,114,352 (GRCm39) |
S570R |
probably benign |
Het |
| Rttn |
A |
G |
18: 88,995,832 (GRCm39) |
N205S |
probably benign |
Het |
| Rusc1 |
T |
C |
3: 88,999,365 (GRCm39) |
E139G |
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,594,242 (GRCm39) |
N1697S |
probably damaging |
Het |
| Serpinb3a |
T |
A |
1: 106,974,907 (GRCm39) |
M209L |
probably damaging |
Het |
| Shank3 |
A |
G |
15: 89,432,888 (GRCm39) |
D1211G |
possibly damaging |
Het |
| Slc22a12 |
C |
A |
19: 6,592,514 (GRCm39) |
R90L |
possibly damaging |
Het |
| Slc6a13 |
G |
A |
6: 121,313,901 (GRCm39) |
W548* |
probably null |
Het |
| Srfbp1 |
T |
A |
18: 52,609,392 (GRCm39) |
L59* |
probably null |
Het |
| Ss18 |
A |
T |
18: 14,803,380 (GRCm39) |
S73T |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,135,508 (GRCm39) |
K189R |
probably benign |
Het |
| Szt2 |
G |
T |
4: 118,239,985 (GRCm39) |
|
probably benign |
Het |
| Tbx1 |
T |
A |
16: 18,402,937 (GRCm39) |
H183L |
probably damaging |
Het |
| Thop1 |
A |
G |
10: 80,915,972 (GRCm39) |
E385G |
possibly damaging |
Het |
| Tmem168 |
C |
A |
6: 13,602,849 (GRCm39) |
M172I |
possibly damaging |
Het |
| Tmem67 |
A |
G |
4: 12,058,559 (GRCm39) |
Y513H |
probably damaging |
Het |
| Top1 |
A |
G |
2: 160,562,921 (GRCm39) |
D709G |
probably damaging |
Het |
| Tprg1l |
A |
C |
4: 154,242,890 (GRCm39) |
S247A |
probably damaging |
Het |
| Trim46 |
A |
G |
3: 89,143,692 (GRCm39) |
S602P |
probably damaging |
Het |
| Ttc7b |
T |
C |
12: 100,466,433 (GRCm39) |
K60E |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,714,815 (GRCm39) |
S8053F |
unknown |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Usp24 |
T |
A |
4: 106,234,762 (GRCm39) |
H956Q |
probably benign |
Het |
| Vcp |
T |
C |
4: 42,980,828 (GRCm39) |
T761A |
probably benign |
Het |
| Xpc |
G |
A |
6: 91,477,956 (GRCm39) |
T309I |
possibly damaging |
Het |
| Zfp560 |
C |
T |
9: 20,260,895 (GRCm39) |
M129I |
probably benign |
Het |
| Zpld2 |
G |
A |
4: 133,929,978 (GRCm39) |
T109I |
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 |
|
|
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 |
|
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'- GCTGAGGTTGGAGGAACTTC -3'
(R):5'- CAAGTCTCTGGATTGTGGAAGAG -3'
Sequencing Primer
(F):5'- GAACTTCTGGAGACCATACTGTTGC -3'
(R):5'- CTCTGGATTGTGGAAGAGGGTAC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation