Incidental Mutation 'R4064:Duoxa2'
| ID |
316000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Duoxa2
|
| Ensembl Gene |
ENSMUSG00000027225 |
| Gene Name |
dual oxidase maturation factor 2 |
| Synonyms |
9030623N16Rik, Nip2 |
| MMRRC Submission |
041620-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.767)
|
| Stock # |
R4064 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
122129381-122133088 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 122131058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 73
(S73I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028653]
[ENSMUST00000028656]
[ENSMUST00000053734]
[ENSMUST00000110537]
[ENSMUST00000110538]
[ENSMUST00000147788]
[ENSMUST00000148417]
|
| AlphaFold |
Q9D311 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028653
|
| SMART Domains |
Protein: ENSMUSP00000028653
Gene: ENSMUSG00000027224
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DuoxA
|
10 |
287 |
7.2e-115 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028656
AA Change: S73I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028656
Gene: ENSMUSG00000027225
AA Change: S73I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DuoxA
|
10 |
286 |
5.5e-114 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053734
|
| SMART Domains |
Protein: ENSMUSP00000050314
Gene: ENSMUSG00000068452
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:An_peroxidase
|
35 |
560 |
5e-131 |
PFAM |
|
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
EFh
|
823 |
851 |
3.7e-5 |
SMART |
|
EFh
|
859 |
887 |
2.09e-4 |
SMART |
|
transmembrane domain
|
1010 |
1032 |
N/A |
INTRINSIC |
|
Pfam:Ferric_reduct
|
1053 |
1202 |
1.8e-22 |
PFAM |
|
Pfam:FAD_binding_8
|
1238 |
1340 |
3.1e-20 |
PFAM |
|
Pfam:NAD_binding_6
|
1346 |
1500 |
1.5e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110537
|
| SMART Domains |
Protein: ENSMUSP00000106166
Gene: ENSMUSG00000027224
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DuoxA
|
9 |
290 |
3.9e-128 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110538
|
| SMART Domains |
Protein: ENSMUSP00000106167
Gene: ENSMUSG00000027224
| 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 |
noncoding transcript
Transcript: ENSMUST00000155561
|
| Meta Mutation Damage Score |
0.3668 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endoplasmic reticulum protein that is necessary for proper cellular localization and maturation of functional dual oxidase 2. Mutations in this gene have been associated with thyroid dyshormonogenesis 5.[provided by RefSeq, Feb 2010]
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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
G |
19: 43,793,432 (GRCm39) |
Y361* |
probably null |
Het |
| Afmid |
A |
G |
11: 117,727,354 (GRCm39) |
T293A |
probably benign |
Het |
| Ago4 |
A |
T |
4: 126,409,655 (GRCm39) |
|
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Axl |
C |
A |
7: 25,463,445 (GRCm39) |
V602L |
probably benign |
Het |
| Cdc5l |
C |
T |
17: 45,721,816 (GRCm39) |
A485T |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etfdh |
T |
C |
3: 79,513,098 (GRCm39) |
E435G |
possibly damaging |
Het |
| Fbxo15 |
C |
T |
18: 84,977,243 (GRCm39) |
R52C |
probably damaging |
Het |
| Fosb |
G |
T |
7: 19,039,117 (GRCm39) |
C186* |
probably null |
Het |
| Gtpbp2 |
G |
A |
17: 46,478,253 (GRCm39) |
R467H |
probably damaging |
Het |
| Hnrnpll |
T |
C |
17: 80,340,201 (GRCm39) |
H526R |
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,428,980 (GRCm39) |
F683I |
probably damaging |
Het |
| Mrps24 |
G |
A |
11: 5,654,676 (GRCm39) |
R93* |
probably null |
Het |
| Nhlh2 |
A |
G |
3: 101,920,052 (GRCm39) |
D28G |
probably benign |
Het |
| Or1e16 |
A |
T |
11: 73,286,348 (GRCm39) |
S167T |
probably benign |
Het |
| Or5w17 |
A |
G |
2: 87,584,133 (GRCm39) |
F68S |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,626,510 (GRCm39) |
D1451E |
probably benign |
Het |
| Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,861,597 (GRCm39) |
S977G |
probably benign |
Het |
| Psmb7 |
T |
C |
2: 38,530,188 (GRCm39) |
T98A |
probably damaging |
Het |
| Pus10 |
A |
G |
11: 23,678,983 (GRCm39) |
K485R |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,243,368 (GRCm39) |
D588G |
probably damaging |
Het |
| Rgl2 |
T |
A |
17: 34,156,082 (GRCm39) |
D723E |
possibly damaging |
Het |
| Rp1 |
A |
T |
1: 4,415,623 (GRCm39) |
S1830T |
probably benign |
Het |
| Rreb1 |
T |
C |
13: 38,114,293 (GRCm39) |
S551P |
probably benign |
Het |
| Serpinb7 |
A |
T |
1: 107,373,766 (GRCm39) |
E127D |
probably benign |
Het |
| Sh3pxd2b |
G |
T |
11: 32,372,263 (GRCm39) |
A477S |
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,690,925 (GRCm39) |
Y568H |
probably benign |
Het |
| Tars3 |
G |
A |
7: 65,302,018 (GRCm39) |
A181T |
possibly damaging |
Het |
| Tbc1d2b |
T |
A |
9: 90,100,975 (GRCm39) |
K672* |
probably null |
Het |
| Tmem59l |
T |
C |
8: 70,938,369 (GRCm39) |
T168A |
probably damaging |
Het |
| Tshz2 |
A |
G |
2: 169,804,245 (GRCm39) |
|
probably benign |
Het |
| Vmn1r9 |
T |
C |
6: 57,048,306 (GRCm39) |
F127S |
probably damaging |
Het |
| Zfp282 |
G |
A |
6: 47,857,028 (GRCm39) |
R87H |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,863 (GRCm39) |
V727A |
probably damaging |
Het |
| Zscan22 |
C |
T |
7: 12,640,941 (GRCm39) |
T395I |
probably damaging |
Het |
|
| Other mutations in Duoxa2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02067:Duoxa2
|
APN |
2 |
122,131,072 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02194:Duoxa2
|
APN |
2 |
122,132,330 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1681:Duoxa2
|
UTSW |
2 |
122,129,643 (GRCm39) |
splice site |
probably null |
|
|
R2186:Duoxa2
|
UTSW |
2 |
122,129,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4062:Duoxa2
|
UTSW |
2 |
122,131,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4757:Duoxa2
|
UTSW |
2 |
122,131,072 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4791:Duoxa2
|
UTSW |
2 |
122,131,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5485:Duoxa2
|
UTSW |
2 |
122,129,633 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6025:Duoxa2
|
UTSW |
2 |
122,132,332 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7335:Duoxa2
|
UTSW |
2 |
122,131,821 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8919:Duoxa2
|
UTSW |
2 |
122,132,357 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9086:Duoxa2
|
UTSW |
2 |
122,131,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAATCTGGGAGCTTTGCCG -3'
(R):5'- CAGTTCCTACCCACAGGATCTC -3'
Sequencing Primer
(F):5'- GTCTCTCACTAAGTAGCCCAGG -3'
(R):5'- AGGATCTCCTGTCTCCCAC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation