Mutagenetix > Incidental Mutation

Incidental Mutation 'R4827:Nxn'

372519

Institutional Source

Beutler Lab

Gene Symbol

Nxn

Ensembl Gene

ENSMUSG00000020844

Gene Name

nucleoredoxin

Synonyms

l11Jus13

MMRRC Submission

042443-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4827 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76148052-76289967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76152418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 359 (Y359H)

Ref Sequence

ENSEMBL: ENSMUSP00000021204 (fasta)

Gene Model

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

AlphaFold

P97346

Predicted Effect

probably benign
Transcript: ENSMUST00000021204
AA Change: Y359H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000021204
Gene: ENSMUSG00000020844
AA Change: Y359H

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

Meta Mutation Damage Score

0.1125

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (67/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	G	12: 88,413,489 (GRCm39)	R274G	probably benign	Het
Agbl5	T	G	5: 31,053,158 (GRCm39)	S83R	probably damaging	Het
Ankib1	A	G	5: 3,751,907 (GRCm39)	I711T	probably damaging	Het
Arnt	T	A	3: 95,397,224 (GRCm39)		probably null	Het
Atad2	C	G	15: 57,971,744 (GRCm39)	V702L	probably benign	Het
B4galnt4	A	G	7: 140,648,392 (GRCm39)	E636G	probably benign	Het
Btbd2	A	G	10: 80,482,223 (GRCm39)	I244T	probably damaging	Het
Cenpc1	A	T	5: 86,182,290 (GRCm39)	N531K	possibly damaging	Het
Ces3b	T	A	8: 105,813,527 (GRCm39)	M266K	probably benign	Het
Cfap54	A	T	10: 92,737,937 (GRCm39)		probably benign	Het
Coq8a	A	G	1: 179,994,903 (GRCm39)	V590A	possibly damaging	Het
Drc7	A	G	8: 95,798,267 (GRCm39)	Y504C	probably damaging	Het
Elovl4	T	C	9: 83,688,091 (GRCm39)	M1V	probably null	Het
Exd1	C	T	2: 119,350,807 (GRCm39)	A485T	probably benign	Het
Fads2	A	G	19: 10,059,958 (GRCm39)	F239L	probably benign	Het
Gcc2	A	T	10: 58,121,953 (GRCm39)		probably null	Het
Ggact	C	T	14: 123,128,987 (GRCm39)	R76H	probably benign	Het
Gm17535	T	A	9: 3,035,786 (GRCm39)	L218H	probably benign	Het
Gm3739	A	T	14: 18,506,218 (GRCm39)	F13I	probably damaging	Het
Gng2	T	C	14: 19,925,898 (GRCm39)	K65E	possibly damaging	Het
Gnmt	A	G	17: 47,038,245 (GRCm39)	Y94H	possibly damaging	Het
Gzme	C	A	14: 56,356,755 (GRCm39)	R69M	probably null	Het
Hdc	G	A	2: 126,436,233 (GRCm39)	P546L	probably benign	Het
Ibtk	C	A	9: 85,610,607 (GRCm39)	V326F	probably benign	Het
Inpp5b	G	T	4: 124,637,643 (GRCm39)		probably benign	Het
Kcnh7	A	T	2: 62,546,564 (GRCm39)	C1006S	probably benign	Het
Kcnk18	A	T	19: 59,208,362 (GRCm39)	N66I	probably damaging	Het
Lpar6	T	A	14: 73,476,190 (GRCm39)	N50K	probably damaging	Het
Lrba	G	T	3: 86,267,457 (GRCm39)	D1716Y	possibly damaging	Het
Ltf	T	A	9: 110,856,445 (GRCm39)		probably benign	Het
Map3k6	A	G	4: 132,976,160 (GRCm39)	T794A	possibly damaging	Het
Mcm8	A	G	2: 132,665,174 (GRCm39)	T217A	probably damaging	Het
Meaf6	A	G	4: 124,996,713 (GRCm39)	E141G	probably damaging	Het
Mmp13	A	G	9: 7,278,880 (GRCm39)	T324A	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Msl2	T	G	9: 100,979,350 (GRCm39)	F575V	probably benign	Het
Ncoa4-ps	C	T	12: 119,225,529 (GRCm39)		noncoding transcript	Het
Nlrp2	A	T	7: 5,331,950 (GRCm39)	W149R	possibly damaging	Het
Ntng1	C	A	3: 110,042,727 (GRCm39)	C33F	probably damaging	Het
Olfml2a	A	C	2: 38,850,033 (GRCm39)	D583A	probably damaging	Het
Or12j5	A	C	7: 140,083,583 (GRCm39)	L263R	probably damaging	Het
Or1e32	A	T	11: 73,705,547 (GRCm39)	Y120*	probably null	Het
Or2t48	A	G	11: 58,420,422 (GRCm39)	I130T	probably damaging	Het
Or4b1b	A	T	2: 90,112,547 (GRCm39)	I124N	probably damaging	Het
Or51ac3	A	T	7: 103,213,752 (GRCm39)	S245T	probably damaging	Het
Pcdha4	T	C	18: 37,086,251 (GRCm39)	S145P	probably damaging	Het
Pcsk2	A	T	2: 143,643,099 (GRCm39)	K459*	probably null	Het
Pirb	C	T	7: 3,720,602 (GRCm39)	G299S	probably benign	Het
Plch2	A	G	4: 155,075,570 (GRCm39)	F653S	probably damaging	Het
Plpp3	T	C	4: 105,088,167 (GRCm39)	I296T	probably benign	Het
Polr2b	A	G	5: 77,490,398 (GRCm39)	E846G	probably benign	Het
Ptpro	A	T	6: 137,419,708 (GRCm39)	N157Y	probably damaging	Het
Ralgapa1	A	G	12: 55,723,222 (GRCm39)	L1815P	probably damaging	Het
Sap18	A	G	14: 58,036,020 (GRCm39)	N69D	probably damaging	Het
Sncg	C	A	14: 34,095,284 (GRCm39)	V74F	probably damaging	Het
Spata31e2	T	C	1: 26,724,923 (GRCm39)	K86E	possibly damaging	Het
Spmip4	A	C	6: 50,572,836 (GRCm39)	S26A	possibly damaging	Het
Tmem186	A	T	16: 8,453,681 (GRCm39)	Y193*	probably null	Het
Trrap	A	G	5: 144,737,758 (GRCm39)	S1045G	probably benign	Het
Tti2	T	G	8: 31,640,998 (GRCm39)	S41A	probably benign	Het
Unc13c	T	C	9: 73,838,568 (GRCm39)	E761G	probably damaging	Het
Vamp2	T	A	11: 68,980,637 (GRCm39)	D68E	probably benign	Het
Vmn1r200	A	T	13: 22,579,265 (GRCm39)	M14L	probably benign	Het
Vps35	T	A	8: 86,000,186 (GRCm39)	D480V	possibly damaging	Het
Zfp462	T	C	4: 55,012,213 (GRCm39)	L1393P	probably damaging	Het
Zfp512	G	A	5: 31,630,158 (GRCm39)	M274I	probably benign	Het
Znfx1	C	G	2: 166,886,151 (GRCm39)	G803A	possibly 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
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'- TTCTGATGACTAAGGGCACAC -3'
(R):5'- GTAGGGTTCGAACTGCTCAC -3'

Sequencing Primer
(F):5'- GGGCACACCTTTTCCTCTTACATC -3'
(R):5'- CTCACTGAGCTGTTTGTGTCTAG -3'

Posted On

2016-03-01