Mutagenetix > Incidental Mutation

Incidental Mutation 'R9173:Nxn'

696545

Institutional Source

Beutler Lab

Gene Symbol

Nxn

Ensembl Gene

ENSMUSG00000020844

Gene Name

nucleoredoxin

Synonyms

l11Jus13

MMRRC Submission

068947-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9173 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76148052-76289967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76149560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 380 (D380G)

Ref Sequence

ENSEMBL: ENSMUSP00000021204 (fasta)

Gene Model

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

AlphaFold

P97346

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021204
AA Change: D380G

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021204
Gene: ENSMUSG00000020844
AA Change: D380G

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1a	G	T	9: 119,170,190 (GRCm39)		probably benign	Het
Clstn1	A	G	4: 149,710,564 (GRCm39)	T79A	probably benign	Het
Cpd	C	T	11: 76,699,649 (GRCm39)	R634Q	probably damaging	Het
Ctnna2	T	C	6: 76,896,939 (GRCm39)	D753G	probably damaging	Het
Cyp51	T	C	5: 4,136,504 (GRCm39)	N430S	probably benign	Het
Dnajc17	A	T	2: 119,009,894 (GRCm39)	V244D	probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Dysf	A	G	6: 84,171,379 (GRCm39)	K1796E	probably benign	Het
Eftud2	A	T	11: 102,734,242 (GRCm39)	V659E	probably damaging	Het
Ercc4	G	A	16: 12,939,973 (GRCm39)	A168T	possibly damaging	Het
Exd2	T	C	12: 80,536,236 (GRCm39)	Y289H	probably benign	Het
Fat2	C	A	11: 55,169,763 (GRCm39)	V2999L	probably damaging	Het
Fgd5	T	C	6: 92,044,584 (GRCm39)		probably null	Het
Fkbp9	T	C	6: 56,850,389 (GRCm39)	S422P	possibly damaging	Het
H2bc21	T	C	3: 96,128,615 (GRCm39)	V45A	possibly damaging	Het
H2-Eb2	A	G	17: 34,552,491 (GRCm39)	D112G	probably benign	Het
Herc2	A	T	7: 55,856,350 (GRCm39)	R3929S	probably damaging	Het
Hrc	G	A	7: 44,986,799 (GRCm39)		probably null	Het
Ighv5-8	T	A	12: 113,618,681 (GRCm39)	V32D	probably benign	Het
Itgal	G	T	7: 126,896,789 (GRCm39)		probably null	Het
Jcad	T	A	18: 4,675,820 (GRCm39)	V1194E	probably benign	Het
Kat8	A	G	7: 127,511,863 (GRCm39)	T54A	probably benign	Het
Kcnu1	G	A	8: 26,390,074 (GRCm39)		probably null	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Lama1	A	G	17: 68,076,597 (GRCm39)	T1124A		Het
Lrp2	T	A	2: 69,299,731 (GRCm39)	D3107V	probably damaging	Het
Map6	G	A	7: 98,917,935 (GRCm39)	R236H	probably damaging	Het
Mycbpap	T	A	11: 94,397,209 (GRCm39)	N64I	probably damaging	Het
Nop14	A	G	5: 34,806,776 (GRCm39)	S443P	probably damaging	Het
Or1e28-ps1	T	A	11: 73,615,734 (GRCm39)	I39F	possibly damaging	Het
Patj	A	T	4: 98,526,958 (GRCm39)	M1390L	probably benign	Het
Pcyox1l	A	G	18: 61,830,663 (GRCm39)	L403P	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pkhd1l1	A	G	15: 44,384,152 (GRCm39)	S1181G	probably benign	Het
Prom1	A	T	5: 44,220,520 (GRCm39)	I76N	possibly damaging	Het
Relch	A	G	1: 105,678,128 (GRCm39)	E1151G	probably benign	Het
Rnft1	T	C	11: 86,377,001 (GRCm39)	S22P	probably benign	Het
Sec31a	T	C	5: 100,529,147 (GRCm39)	T733A	possibly damaging	Het
Serpina1c	A	G	12: 103,862,328 (GRCm39)	I329T	possibly damaging	Het
Slco1a4	T	C	6: 141,761,299 (GRCm39)	D438G	probably benign	Het
Slit2	G	A	5: 48,377,285 (GRCm39)	C438Y	probably damaging	Het
Sorcs1	T	A	19: 50,220,753 (GRCm39)	I566F	possibly damaging	Het
Spata31e5	T	A	1: 28,816,430 (GRCm39)	E534V	probably benign	Het
Spata7	T	A	12: 98,603,853 (GRCm39)	S73R	probably damaging	Het
Stau2	G	A	1: 16,444,933 (GRCm39)	R332*	probably null	Het
Sytl3	T	C	17: 7,000,471 (GRCm39)	F419L	probably damaging	Het
Tet1	A	C	10: 62,676,065 (GRCm39)	D670E	probably benign	Het
Trafd1	T	C	5: 121,516,598 (GRCm39)	R202G	possibly damaging	Het
Tubal3	A	T	13: 3,983,050 (GRCm39)	T277S	possibly damaging	Het
Ube4b	A	G	4: 149,415,933 (GRCm39)	F1054L	probably damaging	Het
Unc13b	C	A	4: 43,177,421 (GRCm39)	Q2750K	unknown	Het
Usp29	T	C	7: 6,964,636 (GRCm39)	S160P	possibly damaging	Het
Vmn2r114	A	T	17: 23,510,527 (GRCm39)	I651N	probably damaging	Het
Ypel1	A	T	16: 16,915,298 (GRCm39)	C103*	probably null	Het
Zfp11	A	T	5: 129,734,891 (GRCm39)	I190N	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
R0456:Nxn	UTSW	11	76,153,963 (GRCm39)	nonsense	probably null
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
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'- AAATACTGTCTCCAGAGGCCG -3'
(R):5'- TGAAGAAACCTGGGCTGTGG -3'

Sequencing Primer
(F):5'- GCCGGAGCCCACTAGATG -3'
(R):5'- ACTCTAAGGACTGGACTCAG -3'

Posted On

2022-02-07