Mutagenetix > Incidental Mutation

Incidental Mutation 'R2186:Duoxa2'

237747

Institutional Source

Beutler Lab

Gene Symbol

Duoxa2

Ensembl Gene

ENSMUSG00000027225

Gene Name

dual oxidase maturation factor 2

Synonyms

9030623N16Rik, Nip2

MMRRC Submission

040188-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.767) question?

Stock #

R2186 (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 122129655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 45 (I45T)

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

probably damaging
Transcript: ENSMUST00000028656
AA Change: I45T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028656
Gene: ENSMUSG00000027225
AA Change: I45T

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

0.3789

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (51/51)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,099,340 (GRCm39)	N29S	probably damaging	Het
Ap1b1	T	C	11: 4,965,737 (GRCm39)	V92A	possibly damaging	Het
Asgr1	G	A	11: 69,947,075 (GRCm39)	R66Q	probably benign	Het
Atp8b4	T	A	2: 126,200,780 (GRCm39)	Q796L	probably damaging	Het
Camk4	A	C	18: 33,315,394 (GRCm39)	D307A	probably damaging	Het
Catsperb	T	A	12: 101,447,041 (GRCm39)	I223K	probably benign	Het
Ccdc80	A	G	16: 44,938,468 (GRCm39)	Y725C	probably damaging	Het
Cep164	T	A	9: 45,679,876 (GRCm39)	Q1119L	probably damaging	Het
Cep85l	G	A	10: 53,224,714 (GRCm39)	P292S	probably damaging	Het
Cfap53	A	G	18: 74,462,576 (GRCm39)		probably null	Het
Cilk1	C	T	9: 78,038,769 (GRCm39)	T6M	probably benign	Het
Cts8	C	A	13: 61,399,545 (GRCm39)	C138F	probably damaging	Het
Dis3l	C	A	9: 64,246,894 (GRCm39)	E54*	probably null	Het
Dnaja1	T	A	4: 40,732,853 (GRCm39)	D367E	probably benign	Het
EU599041	C	T	7: 42,875,333 (GRCm39)		noncoding transcript	Het
Exoc5	T	C	14: 49,252,936 (GRCm39)	M561V	probably benign	Het
Fam184a	T	C	10: 53,514,290 (GRCm39)	I296V	probably damaging	Het
Fbxl18	C	T	5: 142,864,516 (GRCm39)	V686M	probably damaging	Het
Fryl	A	G	5: 73,222,318 (GRCm39)	S2088P	probably damaging	Het
Fus	G	A	7: 127,584,706 (GRCm39)		probably benign	Het
Gpr183	T	A	14: 122,191,727 (GRCm39)	I265L	probably benign	Het
Herc1	T	G	9: 66,347,183 (GRCm39)	L2013V	probably benign	Het
Iqca1	T	C	1: 90,009,066 (GRCm39)	K430R	probably benign	Het
Iqca1l	C	T	5: 24,759,524 (GRCm39)	G82E	probably damaging	Het
Itpripl2	A	G	7: 118,090,500 (GRCm39)	C20R	probably damaging	Het
Kmt2c	C	A	5: 25,492,110 (GRCm39)	C852F	probably damaging	Het
Lamb1	A	T	12: 31,368,466 (GRCm39)	K1199*	probably null	Het
Lrba	A	G	3: 86,211,643 (GRCm39)	Y421C	probably damaging	Het
Lrig2	A	G	3: 104,375,914 (GRCm39)	L96P	probably benign	Het
Mcc	A	G	18: 44,945,145 (GRCm39)	F29S	possibly damaging	Het
Mlh1	T	C	9: 111,087,634 (GRCm39)		probably benign	Het
Pals1	T	C	12: 78,866,145 (GRCm39)		probably benign	Het
Rbm33	A	G	5: 28,599,228 (GRCm39)	T867A	unknown	Het
Sdk1	T	A	5: 142,032,047 (GRCm39)	S1041T	probably benign	Het
Serpinb2	A	G	1: 107,451,694 (GRCm39)		probably null	Het
Serpinb9d	A	G	13: 33,387,030 (GRCm39)	N366S	possibly damaging	Het
Sf3b1	A	G	1: 55,046,792 (GRCm39)	S251P	probably benign	Het
Slc45a1	T	C	4: 150,722,708 (GRCm39)	Y392C	probably benign	Het
Tlr4	T	A	4: 66,758,220 (GRCm39)	C338S	possibly damaging	Het
Trio	A	G	15: 27,824,061 (GRCm39)		probably null	Het
Vnn1	A	T	10: 23,773,299 (GRCm39)	I109L	probably benign	Het
Wnk1	A	G	6: 119,925,528 (GRCm39)	V1312A	probably benign	Het
Zbed6	A	G	1: 133,585,817 (GRCm39)	S507P	probably damaging	Het
Zfp28	A	G	7: 6,397,497 (GRCm39)	H644R	probably damaging	Het
Zfp286	A	G	11: 62,671,287 (GRCm39)	V262A	probably damaging	Het
Zfp292	A	T	4: 34,807,962 (GRCm39)	M1694K	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
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
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'- TCTGCGCTTCTTAGGAGAGC -3'
(R):5'- TCGGAAGAGTCGCTTACTGC -3'

Sequencing Primer
(F):5'- GCAGGGCTCGGACTTTTTATCAC -3'
(R):5'- GAAGAGTCGCTTACTGCACCAG -3'

Posted On

2014-10-02