Mutagenetix > Incidental Mutation

Incidental Mutation 'R7830:Nxn'

602389

Institutional Source

Beutler Lab

Gene Symbol

Nxn

Ensembl Gene

ENSMUSG00000020844

Gene Name

nucleoredoxin

Synonyms

l11Jus13

MMRRC Submission

045884-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7830 (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 A at 76164819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 231 (I231F)

Ref Sequence

ENSEMBL: ENSMUSP00000021204 (fasta)

Gene Model

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

AlphaFold

P97346

Predicted Effect

probably damaging
Transcript: ENSMUST00000021204
AA Change: I231F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021204
Gene: ENSMUSG00000020844
AA Change: I231F

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: 99.3%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat3	T	C	10: 80,442,654 (GRCm39)	L164P	probably damaging	Het
Aldh16a1	A	T	7: 44,795,649 (GRCm39)	L388Q	probably damaging	Het
Angpt1	T	C	15: 42,539,664 (GRCm39)	N65S	probably damaging	Het
Ankrd54	G	A	15: 78,938,250 (GRCm39)	T287I	probably damaging	Het
Bltp1	CCAGATTCATGTAGCA	CCA	3: 37,019,081 (GRCm39)		probably null	Het
Cc2d2b	T	A	19: 40,753,801 (GRCm39)	V108E	possibly damaging	Het
Cd200l1	A	T	16: 45,262,917 (GRCm39)	I187N	probably damaging	Het
Cntnap5c	A	T	17: 58,469,245 (GRCm39)	D609V	probably damaging	Het
Col6a4	G	T	9: 105,952,589 (GRCm39)	D436E	probably damaging	Het
Cul9	A	T	17: 46,851,237 (GRCm39)	D394E	probably benign	Het
Cyfip1	A	G	7: 55,523,210 (GRCm39)	E75G	probably damaging	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Eif2ak2	C	T	17: 79,173,832 (GRCm39)	G249S	probably damaging	Het
Erich4	A	T	7: 25,315,149 (GRCm39)	M42K	probably benign	Het
Fig4	A	C	10: 41,132,462 (GRCm39)	V448G	probably benign	Het
Gas1	T	C	13: 60,323,848 (GRCm39)	D303G	probably damaging	Het
Golgb1	T	G	16: 36,719,083 (GRCm39)	Y330D	possibly damaging	Het
Gpr146	C	T	5: 139,378,357 (GRCm39)	A53V	probably benign	Het
Klk1b27	A	C	7: 43,705,150 (GRCm39)	M106L	probably benign	Het
Lipc	T	C	9: 70,720,183 (GRCm39)	T190A	probably damaging	Het
Lrrc4b	A	G	7: 44,111,231 (GRCm39)	I368V	possibly damaging	Het
Mmp10	A	T	9: 7,507,284 (GRCm39)	Q368L	probably benign	Het
Myo10	T	A	15: 25,738,057 (GRCm39)	Y501*	probably null	Het
Neb	T	A	2: 52,055,201 (GRCm39)	H6445L	probably benign	Het
Numa1	T	A	7: 101,648,492 (GRCm39)	M741K	probably benign	Het
Or1j13	A	G	2: 36,369,392 (GRCm39)	L250P	probably damaging	Het
Or5b116	T	C	19: 13,422,985 (GRCm39)	L203S	probably benign	Het
Osbp2	A	G	11: 3,813,414 (GRCm39)	S152P	probably benign	Het
P3h4	T	C	11: 100,304,869 (GRCm39)	T173A	probably damaging	Het
Pcdh15	C	A	10: 74,221,733 (GRCm39)	R678S	probably damaging	Het
Pcdhb6	C	A	18: 37,469,365 (GRCm39)	T762K	probably benign	Het
Pnrc1	G	A	4: 33,248,057 (GRCm39)	P114L	probably damaging	Het
Ppp3ca	T	A	3: 136,574,481 (GRCm39)	S126R	probably damaging	Het
Prl3d2	C	T	13: 27,310,000 (GRCm39)	T155I	probably benign	Het
Prune2	C	A	19: 17,100,038 (GRCm39)	N1847K	probably benign	Het
Psg21	A	T	7: 18,381,223 (GRCm39)	V440E	probably damaging	Het
Rag1	A	G	2: 101,472,404 (GRCm39)	S913P	probably damaging	Het
Rmc1	A	G	18: 12,301,928 (GRCm39)	N24S	probably benign	Het
Ros1	T	A	10: 52,031,030 (GRCm39)	H525L	probably damaging	Het
Scarb1	T	C	5: 125,364,447 (GRCm39)	Y94C	probably damaging	Het
Serpinb6a	T	G	13: 34,114,030 (GRCm39)	D120A	probably benign	Het
Sik3	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	9: 46,123,355 (GRCm39)		probably benign	Het
Slc39a14	T	C	14: 70,547,566 (GRCm39)	D299G	probably benign	Het
Sox1	G	A	8: 12,446,955 (GRCm39)	A199T	probably damaging	Het
Strc	T	A	2: 121,205,530 (GRCm39)	I867F	probably damaging	Het
Tfrc	A	G	16: 32,437,985 (GRCm39)	K346R	probably benign	Het
Usf3	C	T	16: 44,040,142 (GRCm39)	Q1541*	probably null	Het
Wrn	G	A	8: 33,759,082 (GRCm39)	L716F	probably damaging	Het
Zfp141	G	A	7: 42,124,612 (GRCm39)	T620I	probably benign	Het
Zfp354b	A	T	11: 50,814,136 (GRCm39)	I263K	probably benign	Het
Zfp804b	T	A	5: 6,821,124 (GRCm39)	E646D	probably benign	Het
Zfp970	G	T	2: 177,167,338 (GRCm39)	C304F	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
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'- GTGTTTGCAGGAAGGCTTAC -3'
(R):5'- AGAGGCAAAAGCTTACTTCTGTC -3'

Sequencing Primer
(F):5'- GGCTTACCTCAGCTAATATCCTAGAG -3'
(R):5'- CAAATTGGGTTTGGCCATCCCAG -3'

Posted On

2019-12-03