Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01780:Nxn'

154176

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nxn

Ensembl Gene

ENSMUSG00000020844

Gene Name

nucleoredoxin

Synonyms

l11Jus13

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01780

Quality Score

Status

Chromosome

Chromosomal Location

76257198-76399140 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 76274654 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021204]

Predicted Effect

probably benign
Transcript: ENSMUST00000021204

SMART Domains

Protein: ENSMUSP00000021204
Gene: ENSMUSG00000020844

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin_8	30	145	5.4e-23	PFAM
Pfam:AhpC-TSA	173	290	4.7e-10	PFAM
Pfam:Thioredoxin_2	189	296	7.1e-11	PFAM
Pfam:Thioredoxin_8	193	287	3.7e-32	PFAM
Pfam:Thioredoxin_6	236	424	8.4e-9	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. The encoded protein acts a redox-dependent regulator of the Wnt signaling pathway and is involved in cell growth and differentiation. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice die by P1 and exhibit craniofacial bone defects and cleft palate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,210,125	N648D	probably benign	Het
Abhd8	A	G	8: 71,461,477	V169A	probably benign	Het
BC024139	C	A	15: 76,121,143	L506F	probably benign	Het
Cfap65	A	T	1: 74,928,348	C190*	probably null	Het
Cib2	A	T	9: 54,549,886	H31Q	probably damaging	Het
Emb	A	G	13: 117,249,471		probably benign	Het
Eml6	T	C	11: 29,805,175	M867V	probably benign	Het
Flnc	A	T	6: 29,438,493	K129*	probably null	Het
Gckr	C	A	5: 31,307,790	H368N	possibly damaging	Het
Gmds	A	T	13: 32,225,162	Y106*	probably null	Het
Homez	T	C	14: 54,857,898	T118A	probably damaging	Het
Kcnh7	G	A	2: 62,837,163	T344I	probably benign	Het
Kcnt2	A	G	1: 140,351,269	I53V	probably benign	Het
Krt13	A	T	11: 100,119,713	L207Q	probably damaging	Het
Lipo2	A	G	19: 33,730,948	L222P	possibly damaging	Het
Lrp2	A	C	2: 69,486,184	V2151G	possibly damaging	Het
Mrc2	A	G	11: 105,325,721	D112G	probably damaging	Het
Mrgpra6	T	C	7: 47,188,749	T234A	probably damaging	Het
Mroh2b	A	G	15: 4,912,000	N338S	probably benign	Het
Mrpl23	T	A	7: 142,536,065		probably benign	Het
Myo18a	A	G	11: 77,850,247	N1442S	probably benign	Het
Olfr1132	T	C	2: 87,635,080	I222M	possibly damaging	Het
Osmr	A	T	15: 6,828,663	N441K	probably benign	Het
Patl2	A	C	2: 122,121,846	S468R	probably damaging	Het
Pcdhb1	T	C	18: 37,266,522	S509P	probably damaging	Het
Pmp22	G	T	11: 63,158,308	V126F	probably benign	Het
Prom1	A	G	5: 44,029,604		probably benign	Het
Prss1	C	A	6: 41,463,205	Q159K	probably damaging	Het
Psd3	G	T	8: 67,963,869	H459N	probably benign	Het
Rasgrp1	A	G	2: 117,284,878	L743P	probably benign	Het
Rpusd4	G	A	9: 35,268,424	R71Q	probably damaging	Het
Rsf1	C	T	7: 97,664,770		probably benign	Het
Scaf11	T	C	15: 96,420,844	T280A	possibly damaging	Het
Slc16a4	A	G	3: 107,303,099	I362V	probably benign	Het
Syt16	T	C	12: 74,266,842	V514A	probably benign	Het
Tdpoz2	A	G	3: 93,652,428	V79A	possibly damaging	Het
Tenm2	A	G	11: 36,046,941	M1635T	probably benign	Het
Uhrf1bp1	T	C	17: 27,893,500	L1221P	probably damaging	Het
Vmn1r195	A	G	13: 22,279,085	T242A	probably benign	Het
Zfp423	A	G	8: 87,781,508	V736A	probably damaging	Het

Other mutations in Nxn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Nxn	APN	11	76274655	splice site	probably benign
IGL02350:Nxn	APN	11	76274654	splice site	probably benign
IGL02357:Nxn	APN	11	76274654	splice site	probably benign
IGL02423:Nxn	APN	11	76274032	missense	probably benign	0.13
Charleston	UTSW	11	76263148	missense	possibly damaging	0.94
BB006:Nxn	UTSW	11	76274037	missense	possibly damaging	0.93
BB016:Nxn	UTSW	11	76274037	missense	possibly damaging	0.93
R0098:Nxn	UTSW	11	76278594	splice site	probably benign
R0456:Nxn	UTSW	11	76263137	nonsense	probably null
R1127:Nxn	UTSW	11	76274069	nonsense	probably null
R1473:Nxn	UTSW	11	76263187	missense	possibly damaging	0.93
R1681:Nxn	UTSW	11	76272464	missense	probably benign	0.03
R1917:Nxn	UTSW	11	76261672	splice site	probably benign
R1918:Nxn	UTSW	11	76261672	splice site	probably benign
R2010:Nxn	UTSW	11	76398801	missense	probably damaging	0.99
R4501:Nxn	UTSW	11	76274612	missense	probably damaging	0.98
R4827:Nxn	UTSW	11	76261592	missense	probably benign	0.01
R5029:Nxn	UTSW	11	76274530	nonsense	probably null
R5078:Nxn	UTSW	11	76261607	missense	probably damaging	1.00
R6403:Nxn	UTSW	11	76399020	missense	probably benign	0.22
R7088:Nxn	UTSW	11	76263148	missense	possibly damaging	0.94
R7478:Nxn	UTSW	11	76261552	missense	probably damaging	0.97
R7642:Nxn	UTSW	11	76272459	missense	probably damaging	1.00
R7830:Nxn	UTSW	11	76273993	missense	probably damaging	1.00
R7929:Nxn	UTSW	11	76274037	missense	possibly damaging	0.93
R8397:Nxn	UTSW	11	76272406	missense	probably damaging	1.00
R8478:Nxn	UTSW	11	76274043	missense	probably damaging	0.98
X0062:Nxn	UTSW	11	76263152	missense	possibly damaging	0.46

Posted On

2014-02-04