Mutagenetix > Incidental Mutation

Incidental Mutation 'R6845:Duoxa1'

534696

Institutional Source

Beutler Lab

Gene Symbol

Duoxa1

Ensembl Gene

ENSMUSG00000027224

Gene Name

dual oxidase maturation factor 1

Synonyms

Nip1

MMRRC Submission

044951-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6845 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122134012-122144255 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 122135672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 142 (Y142*)

Ref Sequence

ENSEMBL: ENSMUSP00000116963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028653] [ENSMUST00000028656] [ENSMUST00000110537] [ENSMUST00000110538] [ENSMUST00000147788] [ENSMUST00000148417] [ENSMUST00000154412]

AlphaFold

Q8VE49

Predicted Effect

probably null
Transcript: ENSMUST00000028653
AA Change: Y142*

SMART Domains

Protein: ENSMUSP00000028653
Gene: ENSMUSG00000027224
AA Change: Y142*

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 null
Transcript: ENSMUST00000110537
AA Change: Y142*

SMART Domains

Protein: ENSMUSP00000106166
Gene: ENSMUSG00000027224
AA Change: Y142*

Domain	Start	End	E-Value	Type
Pfam:DuoxA	9	290	3.9e-128	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110538
AA Change: Y97*

SMART Domains

Protein: ENSMUSP00000106167
Gene: ENSMUSG00000027224
AA Change: Y97*

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 null
Transcript: ENSMUST00000148417
AA Change: Y142*

SMART Domains

Protein: ENSMUSP00000116963
Gene: ENSMUSG00000027224
AA Change: Y142*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

95% (53/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	C	A	3: 59,659,539 (GRCm39)	P331T	probably damaging	Het
Adam6a	T	C	12: 113,507,717 (GRCm39)	L30P	possibly damaging	Het
Cabin1	G	A	10: 75,557,342 (GRCm39)	R1099W	probably damaging	Het
Cdon	C	T	9: 35,398,252 (GRCm39)	Q990*	probably null	Het
Cit	T	A	5: 116,122,947 (GRCm39)	L1421Q	probably damaging	Het
Cplane1	T	C	15: 8,251,388 (GRCm39)	S1887P	possibly damaging	Het
Ddx27	T	C	2: 166,864,016 (GRCm39)	C242R	probably damaging	Het
Dlgap5	A	T	14: 47,654,020 (GRCm39)	V3E	possibly damaging	Het
Dnah6	A	T	6: 73,110,525 (GRCm39)	F1687I	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
F3	A	G	3: 121,526,124 (GRCm39)	K229R	probably benign	Het
Fance	A	G	17: 28,536,565 (GRCm39)	R42G	probably damaging	Het
Foxs1	T	C	2: 152,774,619 (GRCm39)	K145E	probably benign	Het
Gpd1l	T	C	9: 114,762,785 (GRCm39)	M1V	probably null	Het
Gpr149	T	A	3: 62,511,942 (GRCm39)	H19L	possibly damaging	Het
Hmgcs1	T	C	13: 120,162,674 (GRCm39)	Y213H	probably damaging	Het
Htra1	C	A	7: 130,538,021 (GRCm39)		probably benign	Het
Il20ra	A	G	10: 19,635,059 (GRCm39)	I433M	probably benign	Het
Il3ra	G	C	14: 14,346,517 (GRCm38)		probably null	Het
Kif11	C	T	19: 37,392,565 (GRCm39)	L499F	probably damaging	Het
Kifc3	A	G	8: 95,835,307 (GRCm39)	M189T	probably benign	Het
Klk1b3	G	A	7: 43,851,127 (GRCm39)	A187T	probably benign	Het
Klre1	T	C	6: 129,561,202 (GRCm39)	S188P	probably damaging	Het
Krtap4-13	G	A	11: 99,700,192 (GRCm39)		probably benign	Het
Lgi4	A	T	7: 30,760,510 (GRCm39)	T22S	probably damaging	Het
Lrp10	C	T	14: 54,707,145 (GRCm39)	R661C	probably damaging	Het
Lrrtm1	A	G	6: 77,220,864 (GRCm39)	D107G	probably benign	Het
Mad1l1	C	A	5: 139,994,924 (GRCm39)	A701S	probably damaging	Het
Mia2	T	A	12: 59,231,064 (GRCm39)	Y1237*	probably null	Het
Mpp4	T	C	1: 59,183,963 (GRCm39)	D278G	probably benign	Het
Myh6	G	A	14: 55,182,206 (GRCm39)	S1734L	probably benign	Het
Nbeal1	C	T	1: 60,320,469 (GRCm39)	R2021*	probably null	Het
Nol4l	T	C	2: 153,258,582 (GRCm39)	T602A	probably benign	Het
Or5b109	T	A	19: 13,211,997 (GRCm39)	C128S	probably damaging	Het
Pcdh15	A	T	10: 74,466,465 (GRCm39)	H894L	probably benign	Het
Phldb1	A	T	9: 44,627,359 (GRCm39)	I362N	probably damaging	Het
Plcxd2	T	A	16: 45,830,223 (GRCm39)		probably benign	Het
Ppp1r13l	G	T	7: 19,105,323 (GRCm39)	R365L	probably damaging	Het
Pramel16	T	C	4: 143,676,394 (GRCm39)	T237A	probably benign	Het
Rfc1	A	T	5: 65,468,459 (GRCm39)	S85T	possibly damaging	Het
Rnf133	A	G	6: 23,649,341 (GRCm39)	V196A	possibly damaging	Het
Shank3	T	C	15: 89,432,528 (GRCm39)	V1016A	probably benign	Het
Slc22a21	T	C	11: 53,870,466 (GRCm39)	D73G	probably benign	Het
Slc34a2	T	A	5: 53,226,511 (GRCm39)	F545I	probably damaging	Het
Slc4a7	T	A	14: 14,775,000 (GRCm38)	M810K	probably damaging	Het
Ss18	A	T	18: 14,788,221 (GRCm39)	M83K	possibly damaging	Het
Tkfc	T	C	19: 10,576,696 (GRCm39)	R94G	probably damaging	Het
Tpp2	T	A	1: 44,017,668 (GRCm39)	C757*	probably null	Het
Trav13n-4	T	C	14: 53,599,856 (GRCm39)	L11P	probably damaging	Het
Trpm4	T	C	7: 44,971,753 (GRCm39)	M138V	possibly damaging	Het
Utp18	G	A	11: 93,776,582 (GRCm39)		probably benign	Het
Vps33a	A	G	5: 123,673,335 (GRCm39)	V417A	probably benign	Het
Zfp207	C	T	11: 80,286,317 (GRCm39)		probably benign	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
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
R9473:Duoxa1	UTSW	2	122,134,326 (GRCm39)	missense	probably benign
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'- AAATCTTGCCTGTGGGTTTTCC -3'
(R):5'- TGGTGTGAATGAACCCCTAC -3'

Sequencing Primer
(F):5'- AAGTTACTAAGGGCAGCTCCTTC -3'
(R):5'- TACCCAAGGTGAATGCCTCAGTG -3'

Posted On

2018-09-12