Mutagenetix > Incidental Mutation

Incidental Mutation 'R0456:Nxn'

40036

Institutional Source

Beutler Lab

Gene Symbol

Nxn

Ensembl Gene

ENSMUSG00000020844

Gene Name

nucleoredoxin

Synonyms

l11Jus13

MMRRC Submission

038656-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0456 (G1)

Quality Score

197

Status

Not validated

Chromosome

Chromosomal Location

76148052-76289967 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 76153963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 291 (Q291*)

Ref Sequence

ENSEMBL: ENSMUSP00000021204 (fasta)

Gene Model

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

AlphaFold

P97346

Predicted Effect

probably null
Transcript: ENSMUST00000021204
AA Change: Q291*

SMART Domains

Protein: ENSMUSP00000021204
Gene: ENSMUSG00000020844
AA Change: Q291*

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

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd29	G	A	18: 12,429,036 (GRCm39)	P11L	probably damaging	Het
Antxr1	A	C	6: 87,194,257 (GRCm39)	V347G	probably damaging	Het
Atp13a5	T	C	16: 29,051,492 (GRCm39)	N1127D	probably benign	Het
Bivm	T	A	1: 44,165,969 (GRCm39)	W140R	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Ceacam5	T	C	7: 17,494,776 (GRCm39)	V928A	possibly damaging	Het
Chia1	T	C	3: 106,035,795 (GRCm39)	Y152H	probably damaging	Het
Chsy3	A	T	18: 59,309,550 (GRCm39)	I268F	probably damaging	Het
CK137956	A	T	4: 127,839,100 (GRCm39)	N439K	probably damaging	Het
Csf3r	C	A	4: 125,929,654 (GRCm39)	N392K	probably damaging	Het
Cyp1b1	T	C	17: 80,017,704 (GRCm39)	I484V	probably benign	Het
Dsc1	T	C	18: 20,232,169 (GRCm39)	K280E	probably damaging	Het
Eefsec	A	G	6: 88,274,870 (GRCm39)	Y365H	probably benign	Het
Epb41l4b	C	T	4: 57,142,843 (GRCm39)		probably null	Het
Erap1	G	A	13: 74,812,339 (GRCm39)	V385I	probably benign	Het
Fat1	A	T	8: 45,482,571 (GRCm39)	I3077F	probably damaging	Het
Fras1	T	G	5: 96,862,202 (GRCm39)		probably null	Het
Fras1	G	T	5: 96,702,647 (GRCm39)	G230C	probably damaging	Het
Gsg1l	A	G	7: 125,522,682 (GRCm39)	M182T	possibly damaging	Het
Gzmg	A	G	14: 56,395,779 (GRCm39)	V60A	probably damaging	Het
H4c6	T	C	13: 23,735,561 (GRCm39)	D86G	probably damaging	Het
Hapln4	A	T	8: 70,537,645 (GRCm39)	Y113F	probably benign	Het
Ikzf4	T	A	10: 128,471,677 (GRCm39)	T274S	probably damaging	Het
Kansl1l	T	A	1: 66,774,885 (GRCm39)	H302L	probably damaging	Het
Klhl41	T	C	2: 69,500,893 (GRCm39)	V118A	probably damaging	Het
Kpna1	T	C	16: 35,823,270 (GRCm39)	S41P	possibly damaging	Het
Krt23	A	G	11: 99,377,604 (GRCm39)	V134A	probably benign	Het
Lamb1	G	A	12: 31,354,729 (GRCm39)	C992Y	probably damaging	Het
Lrif1	C	T	3: 106,639,094 (GRCm39)	P35S	probably benign	Het
Lrrc4	A	G	6: 28,831,103 (GRCm39)	S171P	probably damaging	Het
Lvrn	G	A	18: 46,997,883 (GRCm39)		probably null	Het
Matr3	T	A	18: 35,705,917 (GRCm39)	F281I	probably damaging	Het
Meak7	A	T	8: 120,495,162 (GRCm39)	F199I	probably damaging	Het
Or5b113	A	G	19: 13,342,102 (GRCm39)	T37A	probably damaging	Het
Pdp2	G	T	8: 105,320,421 (GRCm39)	R90L	probably damaging	Het
Ppp1r3c	C	A	19: 36,711,291 (GRCm39)	E160*	probably null	Het
Ppp2r5c	T	G	12: 110,489,013 (GRCm39)	S118R	probably damaging	Het
Ptpn23	G	T	9: 110,218,861 (GRCm39)		probably null	Het
Ptpro	G	T	6: 137,391,228 (GRCm39)	V783L	probably benign	Het
Rab40c	A	G	17: 26,103,631 (GRCm39)	V144A	possibly damaging	Het
Rasal2	T	C	1: 156,977,413 (GRCm39)	N1087S	probably damaging	Het
Rfc3	T	A	5: 151,570,988 (GRCm39)	S103C	possibly damaging	Het
Rgl2	A	G	17: 34,155,823 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rit2	A	T	18: 31,108,504 (GRCm39)	F160L	probably benign	Het
Rnh1	A	G	7: 140,742,461 (GRCm39)	S366P	possibly damaging	Het
Sdk2	T	C	11: 113,682,292 (GRCm39)	Y2029C	possibly damaging	Het
Smpd3	T	A	8: 106,986,288 (GRCm39)	I505F	probably benign	Het
Sorcs3	A	T	19: 48,642,483 (GRCm39)	S379C	possibly damaging	Het
Sult1e1	A	G	5: 87,726,493 (GRCm39)	L207P	possibly damaging	Het
Sycp2	C	G	2: 178,023,648 (GRCm39)	S456T	probably benign	Het
Syne1	T	C	10: 5,292,252 (GRCm39)	T1339A	probably benign	Het
Tas2r117	A	G	6: 132,780,354 (GRCm39)	N164S	probably benign	Het
Tigd3	A	G	19: 5,942,821 (GRCm39)	L103P	probably damaging	Het
Tmem132b	T	C	5: 125,864,788 (GRCm39)	S965P	probably damaging	Het
Tmem82	T	C	4: 141,344,701 (GRCm39)	T81A	probably benign	Het
Tmem8b	A	G	4: 43,685,618 (GRCm39)	T156A	probably benign	Het
Tnfrsf21	A	G	17: 43,348,982 (GRCm39)	E198G	probably benign	Het
Tnpo2	A	G	8: 85,781,045 (GRCm39)	N767S	probably damaging	Het
Trf	T	C	9: 103,104,102 (GRCm39)	Y87C	probably damaging	Het
Tst	A	G	15: 78,289,780 (GRCm39)	V85A	probably damaging	Het
Usp37	A	T	1: 74,507,507 (GRCm39)	N503K	probably damaging	Het
Utp20	C	T	10: 88,590,435 (GRCm39)	M2346I	possibly damaging	Het
Vax2	A	G	6: 83,688,388 (GRCm39)	D37G	probably benign	Het
Vmn1r77	T	A	7: 11,775,665 (GRCm39)	L79*	probably null	Het
Zbtb3	A	T	19: 8,780,564 (GRCm39)	D59V	probably damaging	Het
Zdhhc13	T	C	7: 48,458,602 (GRCm39)	F182S	probably benign	Het
Zfp426	A	G	9: 20,381,593 (GRCm39)	F465L	probably damaging	Het
Zfp526	A	G	7: 24,925,637 (GRCm39)	E632G	probably damaging	Het

Other mutations in Nxn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Nxn	APN	11	76,165,481 (GRCm39)	splice site	probably benign
IGL01780:Nxn	APN	11	76,165,480 (GRCm39)	splice site	probably benign
IGL02350:Nxn	APN	11	76,165,480 (GRCm39)	splice site	probably benign
IGL02357:Nxn	APN	11	76,165,480 (GRCm39)	splice site	probably benign
IGL02423:Nxn	APN	11	76,164,858 (GRCm39)	missense	probably benign	0.13
Charleston	UTSW	11	76,153,974 (GRCm39)	missense	possibly damaging	0.94
Flapper	UTSW	11	76,169,383 (GRCm39)	missense	probably damaging	1.00
BB006:Nxn	UTSW	11	76,164,863 (GRCm39)	missense	possibly damaging	0.93
BB016:Nxn	UTSW	11	76,164,863 (GRCm39)	missense	possibly damaging	0.93
R0098:Nxn	UTSW	11	76,169,420 (GRCm39)	splice site	probably benign
R1127:Nxn	UTSW	11	76,164,895 (GRCm39)	nonsense	probably null
R1473:Nxn	UTSW	11	76,154,013 (GRCm39)	missense	possibly damaging	0.93
R1681:Nxn	UTSW	11	76,163,290 (GRCm39)	missense	probably benign	0.03
R1917:Nxn	UTSW	11	76,152,498 (GRCm39)	splice site	probably benign
R1918:Nxn	UTSW	11	76,152,498 (GRCm39)	splice site	probably benign
R2010:Nxn	UTSW	11	76,289,627 (GRCm39)	missense	probably damaging	0.99
R4501:Nxn	UTSW	11	76,165,438 (GRCm39)	missense	probably damaging	0.98
R4827:Nxn	UTSW	11	76,152,418 (GRCm39)	missense	probably benign	0.01
R5029:Nxn	UTSW	11	76,165,356 (GRCm39)	nonsense	probably null
R5078:Nxn	UTSW	11	76,152,433 (GRCm39)	missense	probably damaging	1.00
R6403:Nxn	UTSW	11	76,289,846 (GRCm39)	missense	probably benign	0.22
R7088:Nxn	UTSW	11	76,153,974 (GRCm39)	missense	possibly damaging	0.94
R7478:Nxn	UTSW	11	76,152,378 (GRCm39)	missense	probably damaging	0.97
R7642:Nxn	UTSW	11	76,163,285 (GRCm39)	missense	probably damaging	1.00
R7830:Nxn	UTSW	11	76,164,819 (GRCm39)	missense	probably damaging	1.00
R7929:Nxn	UTSW	11	76,164,863 (GRCm39)	missense	possibly damaging	0.93
R8397:Nxn	UTSW	11	76,163,232 (GRCm39)	missense	probably damaging	1.00
R8478:Nxn	UTSW	11	76,164,869 (GRCm39)	missense	probably damaging	0.98
R9032:Nxn	UTSW	11	76,169,383 (GRCm39)	missense	probably damaging	1.00
R9122:Nxn	UTSW	11	76,169,317 (GRCm39)	missense	probably damaging	0.98
R9173:Nxn	UTSW	11	76,149,560 (GRCm39)	missense	possibly damaging	0.96
R9725:Nxn	UTSW	11	76,169,362 (GRCm39)	missense	probably damaging	0.98
X0062:Nxn	UTSW	11	76,153,978 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- CATGAGAGGTCCATTCTGACCTGC -3'
(R):5'- TTTCCTTGGAGCGACTCCACACAG -3'

Sequencing Primer
(F):5'- ATTCTGACCTGCCTTCCAC -3'
(R):5'- CAGCAACTGGGCTTACTTTTAG -3'

Posted On

2013-05-23