Mutagenetix > Incidental Mutation

Incidental Mutation 'R5485:Duoxa2'

432503

Institutional Source

Beutler Lab

Gene Symbol

Duoxa2

Ensembl Gene

ENSMUSG00000027225

Gene Name

dual oxidase maturation factor 2

Synonyms

9030623N16Rik, Nip2

MMRRC Submission

043046-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.767) question?

Stock #

R5485 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122129381-122133088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122129633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 38 (F38L)

Ref Sequence

ENSEMBL: ENSMUSP00000028656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028653] [ENSMUST00000028656] [ENSMUST00000053734] [ENSMUST00000110537] [ENSMUST00000110538]

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

possibly damaging
Transcript: ENSMUST00000028656
AA Change: F38L

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028656
Gene: ENSMUSG00000027225
AA Change: F38L

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

noncoding transcript
Transcript: ENSMUST00000155561

Meta Mutation Damage Score

0.2688

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.6%

Validation Efficiency

98% (59/60)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,467,378 (GRCm39)	V85D	probably benign	Het
Abcb8	A	G	5: 24,605,159 (GRCm39)	N115S	probably benign	Het
Appl1	C	A	14: 26,684,823 (GRCm39)	L75F	probably damaging	Het
Atp13a5	A	G	16: 29,100,760 (GRCm39)		probably null	Het
Atp2c2	T	A	8: 120,479,801 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,864,979 (GRCm39)	I94F	probably damaging	Het
Clasp1	A	G	1: 118,395,643 (GRCm39)	I194V	possibly damaging	Het
Crebbp	A	C	16: 3,932,777 (GRCm39)	D1000E	probably benign	Het
Ctdnep1	C	T	11: 69,872,316 (GRCm39)	R3W	possibly damaging	Het
Dgkb	T	C	12: 38,177,363 (GRCm39)	V230A	probably damaging	Het
Ecd	T	C	14: 20,388,273 (GRCm39)	S172G	probably benign	Het
Endog	G	T	2: 30,061,663 (GRCm39)		probably benign	Het
Eqtn	G	A	4: 94,813,193 (GRCm39)	P131L	possibly damaging	Het
Gabbr1	T	A	17: 37,367,767 (GRCm39)	S290T	possibly damaging	Het
Glt8d2	T	A	10: 82,487,282 (GRCm39)	R319S	possibly damaging	Het
Gm16686	A	G	4: 88,673,641 (GRCm39)		probably benign	Het
Gm5709	A	T	3: 59,542,983 (GRCm39)		noncoding transcript	Het
Gm7381	T	C	8: 3,892,161 (GRCm39)		noncoding transcript	Het
Gorab	T	G	1: 163,213,871 (GRCm39)	D353A	possibly damaging	Het
Gstm1	A	G	3: 107,924,720 (GRCm39)	L20P	probably damaging	Het
Hexim2	A	G	11: 103,029,884 (GRCm39)	D312G	probably benign	Het
Hfm1	A	G	5: 106,995,528 (GRCm39)		probably null	Het
Mbd4	C	A	6: 115,827,679 (GRCm39)	A66S	probably benign	Het
Mmp27	T	A	9: 7,573,363 (GRCm39)	W152R	probably damaging	Het
Mogat1	A	G	1: 78,500,307 (GRCm39)	T124A	probably benign	Het
Mrps18b	A	T	17: 36,225,236 (GRCm39)	V102D	probably damaging	Het
Or10g3b	A	T	14: 52,586,776 (GRCm39)	C242*	probably null	Het
Peg10	T	A	6: 4,755,565 (GRCm39)	M47K	probably benign	Het
Plxnc1	T	G	10: 94,758,604 (GRCm39)	Q364P	probably benign	Het
Psd	A	T	19: 46,304,528 (GRCm39)		probably null	Het
Rims1	T	G	1: 22,522,289 (GRCm39)	I470L	possibly damaging	Het
Sbsn	T	C	7: 30,452,542 (GRCm39)	V519A	possibly damaging	Het
Senp1	A	G	15: 97,964,377 (GRCm39)	V279A	probably benign	Het
Sfxn5	T	A	6: 85,309,582 (GRCm39)		probably benign	Het
Slc6a13	T	A	6: 121,313,032 (GRCm39)	M483K	probably damaging	Het
Slc6a21	G	A	7: 44,931,966 (GRCm39)		probably null	Het
Slco6c1	T	C	1: 97,053,481 (GRCm39)	Y140C	probably damaging	Het
Spata32	A	G	11: 103,100,122 (GRCm39)	S128P	probably damaging	Het
Spty2d1	G	T	7: 46,647,633 (GRCm39)	T432K	possibly damaging	Het
Stx8	A	G	11: 67,911,792 (GRCm39)	Q170R	probably benign	Het
Sytl3	G	A	17: 6,982,879 (GRCm39)	V112I	probably benign	Het
Tdrkh	A	G	3: 94,336,019 (GRCm39)	I420V	probably benign	Het
Tmem117	T	C	15: 94,992,711 (GRCm39)	V457A	probably benign	Het
Tpk1	T	C	6: 43,642,746 (GRCm39)		probably benign	Het
Trpc2	GTGTCCTA	GTGTCCTATGTCCTA	7: 101,744,420 (GRCm39)		probably null	Het
Tsen54	A	G	11: 115,706,048 (GRCm39)	E90G	probably benign	Het
Ugt1a2	A	T	1: 88,128,968 (GRCm39)	M204L	probably damaging	Het
Vmn2r17	A	T	5: 109,567,972 (GRCm39)	I32F	probably benign	Het
Xkr6	T	C	14: 64,056,833 (GRCm39)	V248A	unknown	Het
Zfhx4	C	A	3: 5,308,067 (GRCm39)	S431Y	probably damaging	Het
Zfp318	T	A	17: 46,723,180 (GRCm39)	S1728T	possibly damaging	Het
Zfp563	T	C	17: 33,308,540 (GRCm39)		probably benign	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
R4064: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
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'- AAGAGTTTCGGGAGATCACGC -3'
(R):5'- ATTTGCATCTGCTGATCCTCGG -3'

Sequencing Primer
(F):5'- CTCTGCGCTTCTTAGGAGAGC -3'
(R):5'- ATCTGCTGATCCTCGGAGAATC -3'

Posted On

2016-10-05