Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02423:Nxn'

292781

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nxn

Ensembl Gene

ENSMUSG00000020844

Gene Name

nucleoredoxin

Synonyms

l11Jus13

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02423

Quality Score

Status

Chromosome

Chromosomal Location

76148052-76289967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76164858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 218 (S218T)

Ref Sequence

ENSEMBL: ENSMUSP00000021204 (fasta)

Gene Model

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

AlphaFold

P97346

Predicted Effect

probably benign
Transcript: ENSMUST00000021204
AA Change: S218T

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000021204
Gene: ENSMUSG00000020844
AA Change: S218T

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abca6	A	G	11: 110,109,832 (GRCm39)		probably benign	Het
Adarb2	A	T	13: 8,619,756 (GRCm39)	R81W	probably damaging	Het
Adgrf4	T	C	17: 42,983,467 (GRCm39)	I72V	probably benign	Het
Banp	A	G	8: 122,733,830 (GRCm39)	I360V	probably benign	Het
Bmp8a	C	A	4: 123,210,220 (GRCm39)	G289C	possibly damaging	Het
Car3	A	T	3: 14,931,911 (GRCm39)	H94L	probably damaging	Het
Ccdc137	G	A	11: 120,350,927 (GRCm39)	R108H	possibly damaging	Het
Cdk14	T	C	5: 4,938,905 (GRCm39)	N411S	probably benign	Het
Col4a2	A	G	8: 11,483,800 (GRCm39)	M907V	probably benign	Het
Cyp4f17	T	A	17: 32,725,923 (GRCm39)	W19R	possibly damaging	Het
Dmxl2	A	G	9: 54,301,032 (GRCm39)	S2360P	possibly damaging	Het
Eif2d	T	G	1: 131,081,097 (GRCm39)		probably benign	Het
Epx	A	G	11: 87,762,144 (GRCm39)	I369T	possibly damaging	Het
Fcgbp	A	G	7: 27,789,378 (GRCm39)	E648G	probably benign	Het
Fer1l4	G	A	2: 155,894,827 (GRCm39)	P14L	probably benign	Het
Folr1	A	G	7: 101,507,732 (GRCm39)	F236S	probably benign	Het
Foxj2	T	G	6: 122,819,732 (GRCm39)	M540R	possibly damaging	Het
Gtf2h1	A	G	7: 46,464,824 (GRCm39)	T420A	probably benign	Het
H2-T3	T	A	17: 36,498,248 (GRCm39)	T222S	probably damaging	Het
Ice1	A	T	13: 70,740,718 (GRCm39)	M2163K	probably damaging	Het
Inppl1	A	G	7: 101,481,450 (GRCm39)	V244A	probably benign	Het
Kansl3	A	T	1: 36,391,050 (GRCm39)	V373D	probably damaging	Het
Kdm3a	A	G	6: 71,590,987 (GRCm39)		probably benign	Het
Krtap1-3	A	T	11: 99,481,680 (GRCm39)	C156S	unknown	Het
Mab21l3	T	C	3: 101,726,045 (GRCm39)	D317G	probably damaging	Het
Nherf1	A	G	11: 115,054,539 (GRCm39)		probably null	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Or5h22	A	T	16: 58,894,630 (GRCm39)	I271K	probably benign	Het
Or6c35	G	A	10: 129,169,397 (GRCm39)	V216I	probably benign	Het
Pcdhb13	T	C	18: 37,577,392 (GRCm39)	V590A	possibly damaging	Het
Pim3	T	C	15: 88,747,734 (GRCm39)	V200A	probably benign	Het
Plekha3	T	C	2: 76,510,524 (GRCm39)	F20L	probably damaging	Het
Pmp22	G	T	11: 63,049,118 (GRCm39)	R120S	possibly damaging	Het
Ppp1r9a	A	C	6: 4,906,537 (GRCm39)	D364A	probably benign	Het
Psd	A	G	19: 46,302,943 (GRCm39)	F155L	possibly damaging	Het
Rbm22	T	C	18: 60,704,891 (GRCm39)		probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Ryr2	A	T	13: 11,760,084 (GRCm39)	F1556I	probably damaging	Het
Scap	G	A	9: 110,207,685 (GRCm39)	A465T	probably benign	Het
Sdf2	A	G	11: 78,141,844 (GRCm39)	S60G	probably damaging	Het
Sema3a	T	C	5: 13,615,776 (GRCm39)	I400T	probably damaging	Het
Ski	T	C	4: 155,244,191 (GRCm39)	D478G	probably damaging	Het
Slc12a7	A	T	13: 73,911,882 (GRCm39)		probably benign	Het
Sned1	A	G	1: 93,211,322 (GRCm39)	T1074A	probably benign	Het
Srebf2	A	G	15: 82,059,298 (GRCm39)	T239A	probably damaging	Het
Stk4	C	T	2: 163,928,419 (GRCm39)	H84Y	probably benign	Het
Syne1	G	T	10: 5,318,295 (GRCm39)	Q444K	probably benign	Het
Tecpr1	T	A	5: 144,140,305 (GRCm39)	I817F	possibly damaging	Het
Tep1	G	T	14: 51,082,077 (GRCm39)	Q1159K	possibly damaging	Het
Tmem39b	G	A	4: 129,572,442 (GRCm39)	H387Y	probably damaging	Het
Tpp1	T	C	7: 105,398,907 (GRCm39)	H174R	probably damaging	Het
Ttn	C	T	2: 76,535,617 (GRCm39)	V35134I	probably benign	Het
Usp34	A	G	11: 23,304,900 (GRCm39)	I378V	probably benign	Het
Vinac1	T	C	2: 128,889,968 (GRCm39)	E42G	probably benign	Het
Vmn2r1	T	A	3: 63,997,665 (GRCm39)	H440Q	probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Zcchc7	T	A	4: 44,931,244 (GRCm39)	D144E	possibly damaging	Het
Zic4	C	A	9: 91,266,228 (GRCm39)	H284N	probably damaging	Het
Zkscan6	A	G	11: 65,719,120 (GRCm39)	H380R	probably benign	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
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
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

Posted On

2015-04-16