Incidental Mutation 'R9473:Duoxa1'
| ID |
715554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Duoxa1
|
| Ensembl Gene |
ENSMUSG00000027224 |
| Gene Name |
dual oxidase maturation factor 1 |
| Synonyms |
Nip1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9473 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
122134012-122144255 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122134326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 309
(I309T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028653]
[ENSMUST00000028656]
[ENSMUST00000110537]
[ENSMUST00000110538]
[ENSMUST00000147788]
[ENSMUST00000148417]
[ENSMUST00000154412]
|
| AlphaFold |
Q8VE49 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028653
AA Change: I309T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028653
Gene: ENSMUSG00000027224
AA Change: I309T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DuoxA
|
10 |
287 |
7.2e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028656
|
| SMART Domains |
Protein: ENSMUSP00000028656
Gene: ENSMUSG00000027225
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DuoxA
|
10 |
286 |
5.5e-114 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110537
AA Change: I309T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106166
Gene: ENSMUSG00000027224
AA Change: I309T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DuoxA
|
9 |
290 |
3.9e-128 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110538
AA Change: I264T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106167
Gene: ENSMUSG00000027224
AA Change: I264T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DuoxA
|
9 |
70 |
1.7e-23 |
PFAM |
|
Pfam:DuoxA
|
67 |
245 |
2.4e-80 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147788
|
| SMART Domains |
Protein: ENSMUSP00000116280
Gene: ENSMUSG00000027224
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DuoxA
|
9 |
134 |
5.9e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148417
|
| SMART Domains |
Protein: ENSMUSP00000116963
Gene: ENSMUSG00000027224
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DuoxA
|
9 |
210 |
1.2e-99 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154412
|
| SMART Domains |
Protein: ENSMUSP00000116911
Gene: ENSMUSG00000027224
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DuoxA
|
9 |
100 |
6.3e-37 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA1 and DUOXA2, respectively, which is essential for the maturation and function of the DUOX enzyme complexes. This gene encodes the DUOX1 activator or maturation factor DUOXA1. Rat studies identified a bidirectional promoter which controls the transcription of the DUOX1 and DUOXA1 genes. This protein is cotransported to the cell surface when coexpressed with DUOX1 and is retained in the endoplasmic reticulum when expressed without DUOX1 protein. The expression of this gene or the DUOX1 gene is not suppressed by thyroglobulin (Tg), a macromolecular precursor in thyroid hormone synthesis, while the expression of the DUOX2 and DUOXA2 are significantly suppressed by the Tg. This protein is also a p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele of Duoxa1 and 2 exhibit severe hypothyrodism with severe postnatal growth, delayed eye opening, enlarged thyroid, enlarged adenohypophysis, respiratory distress and death at weaning when weaned at 21 days. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
C |
T |
5: 144,980,912 (GRCm39) |
P107L |
probably benign |
Het |
| Abcc10 |
T |
C |
17: 46,617,609 (GRCm39) |
N1142S |
probably benign |
Het |
| Accsl |
T |
C |
2: 93,686,092 (GRCm39) |
H575R |
probably benign |
Het |
| Adgra2 |
T |
A |
8: 27,610,943 (GRCm39) |
L964Q |
probably damaging |
Het |
| Akap5 |
T |
C |
12: 76,376,632 (GRCm39) |
L688P |
probably damaging |
Het |
| Anapc10 |
A |
G |
8: 80,501,673 (GRCm39) |
N147S |
probably damaging |
Het |
| Atm |
C |
T |
9: 53,410,272 (GRCm39) |
E1059K |
probably benign |
Het |
| Bltp2 |
G |
A |
11: 78,174,983 (GRCm39) |
R1706H |
probably damaging |
Het |
| Bmf |
A |
C |
2: 118,363,104 (GRCm39) |
F251V |
probably benign |
Het |
| Capn3 |
G |
T |
2: 120,326,535 (GRCm39) |
E576* |
probably null |
Het |
| Capns2 |
T |
C |
8: 93,628,854 (GRCm39) |
*248R |
probably null |
Het |
| Ceacam13 |
G |
T |
7: 17,747,281 (GRCm39) |
V245L |
probably benign |
Het |
| Clcn3 |
T |
C |
8: 61,407,651 (GRCm39) |
D2G |
probably benign |
Het |
| Dcstamp |
G |
A |
15: 39,617,972 (GRCm39) |
C127Y |
probably damaging |
Het |
| Dnmt3l |
C |
T |
10: 77,886,022 (GRCm39) |
Q36* |
probably null |
Het |
| Dpys |
A |
G |
15: 39,687,583 (GRCm39) |
I405T |
possibly damaging |
Het |
| Eif2b1 |
G |
A |
5: 124,712,677 (GRCm39) |
Q156* |
probably null |
Het |
| Eif3l |
T |
A |
15: 78,970,704 (GRCm39) |
M326K |
probably damaging |
Het |
| Fbxl13 |
T |
C |
5: 21,790,243 (GRCm39) |
N267D |
possibly damaging |
Het |
| Fip1l1 |
C |
T |
5: 74,745,719 (GRCm39) |
T372I |
probably damaging |
Het |
| Galt |
A |
G |
4: 41,757,575 (GRCm39) |
N249S |
probably benign |
Het |
| Gm17324 |
G |
T |
9: 78,355,839 (GRCm39) |
R47S |
unknown |
Het |
| Gm45871 |
T |
G |
18: 90,609,093 (GRCm39) |
D110E |
probably benign |
Het |
| Gtf2ird1 |
T |
A |
5: 134,433,534 (GRCm39) |
T298S |
probably benign |
Het |
| Ighv7-4 |
T |
C |
12: 114,186,722 (GRCm39) |
I17V |
probably benign |
Het |
| Krt7 |
C |
T |
15: 101,318,409 (GRCm39) |
R299W |
probably damaging |
Het |
| Macc1 |
A |
G |
12: 119,297,990 (GRCm39) |
|
probably benign |
Het |
| Mturn |
G |
A |
6: 54,666,009 (GRCm39) |
E61K |
probably benign |
Het |
| Nol11 |
T |
C |
11: 107,075,581 (GRCm39) |
D149G |
probably null |
Het |
| Nr4a3 |
A |
T |
4: 48,052,143 (GRCm39) |
N299I |
probably damaging |
Het |
| Pip5k1b |
A |
T |
19: 24,335,590 (GRCm39) |
I351N |
probably damaging |
Het |
| Plce1 |
G |
A |
19: 38,766,337 (GRCm39) |
E2121K |
possibly damaging |
Het |
| Pramel11 |
T |
G |
4: 143,620,815 (GRCm39) |
T468P |
probably benign |
Het |
| Rdh19 |
A |
G |
10: 127,696,177 (GRCm39) |
T310A |
probably benign |
Het |
| Rflnb |
T |
A |
11: 75,913,064 (GRCm39) |
Y108F |
probably damaging |
Het |
| Rfx1 |
A |
T |
8: 84,819,903 (GRCm39) |
I713F |
probably damaging |
Het |
| Saxo5 |
G |
A |
8: 3,529,232 (GRCm39) |
C239Y |
probably benign |
Het |
| Scgn |
T |
C |
13: 24,143,731 (GRCm39) |
|
probably null |
Het |
| Serpina1d |
T |
C |
12: 103,729,939 (GRCm39) |
*414W |
probably null |
Het |
| Slc18a3 |
T |
C |
14: 32,185,913 (GRCm39) |
I157V |
probably benign |
Het |
| Steap1 |
T |
C |
5: 5,790,378 (GRCm39) |
Y190C |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,064,243 (GRCm39) |
S3247P |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,198,258 (GRCm39) |
I3778V |
probably benign |
Het |
| Tas2r114 |
T |
C |
6: 131,666,104 (GRCm39) |
D308G |
probably benign |
Het |
| Tpm2 |
A |
T |
4: 43,514,813 (GRCm39) |
L274* |
probably null |
Het |
| Ttc39b |
A |
G |
4: 83,181,977 (GRCm39) |
F81L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,547,338 (GRCm39) |
V32236A |
probably damaging |
Het |
| Ubr5 |
A |
G |
15: 38,002,617 (GRCm39) |
V1472A |
|
Het |
| Ugt2b1 |
A |
T |
5: 87,065,539 (GRCm39) |
V500D |
possibly damaging |
Het |
| Vpreb1b |
G |
A |
16: 17,798,565 (GRCm39) |
C17Y |
probably benign |
Het |
| Wscd1 |
A |
G |
11: 71,679,644 (GRCm39) |
N506D |
probably damaging |
Het |
|
| Other mutations in Duoxa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02021:Duoxa1
|
APN |
2 |
122,135,127 (GRCm39) |
missense |
probably benign |
0.35 |
|
Minima
|
UTSW |
2 |
122,134,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
nadir
|
UTSW |
2 |
122,136,861 (GRCm39) |
splice site |
probably benign |
|
|
perigee
|
UTSW |
2 |
122,135,672 (GRCm39) |
nonsense |
probably null |
|
|
R0675:Duoxa1
|
UTSW |
2 |
122,136,861 (GRCm39) |
splice site |
probably benign |
|
|
R0755:Duoxa1
|
UTSW |
2 |
122,135,161 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1387:Duoxa1
|
UTSW |
2 |
122,134,468 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2906:Duoxa1
|
UTSW |
2 |
122,135,155 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5327:Duoxa1
|
UTSW |
2 |
122,134,361 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5886:Duoxa1
|
UTSW |
2 |
122,134,291 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6514:Duoxa1
|
UTSW |
2 |
122,135,194 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6841:Duoxa1
|
UTSW |
2 |
122,134,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6845:Duoxa1
|
UTSW |
2 |
122,135,672 (GRCm39) |
nonsense |
probably null |
|
|
R6959:Duoxa1
|
UTSW |
2 |
122,134,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7232:Duoxa1
|
UTSW |
2 |
122,135,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9717:Duoxa1
|
UTSW |
2 |
122,135,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0017:Duoxa1
|
UTSW |
2 |
122,135,200 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCACTTCCTGGACAGTTC -3'
(R):5'- GCTCTTAGAAGATCTTGGGAGGAC -3'
Sequencing Primer
(F):5'- CTGCTGGTTTTGTGGGGCTC -3'
(R):5'- CTTGGGAGGACTTACTAAACTAAAGC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation