Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00663:Nkrf'

13644

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nkrf

Ensembl Gene

ENSMUSG00000044149

Gene Name

NF-kappaB repressing factor

Synonyms

9430034D17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00663

Quality Score

Status

Chromosome

Chromosomal Location

36151193-36167166 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36152752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 510 (T510N)

Ref Sequence

ENSEMBL: ENSMUSP00000061546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016452] [ENSMUST00000057093]

AlphaFold

Q8BY02

Predicted Effect

probably benign
Transcript: ENSMUST00000016452

SMART Domains

Protein: ENSMUSP00000016452
Gene: ENSMUSG00000016308

Domain	Start	End	E-Value	Type
UBCc	7	150	5.7e-73	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057093
AA Change: T510N

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000061546
Gene: ENSMUSG00000044149
AA Change: T510N

Domain	Start	End	E-Value	Type
Blast:DSRM	199	275	2e-40	BLAST
DSRM	349	410	1.38e-1	SMART
low complexity region	426	437	N/A	INTRINSIC
DSRM	451	512	1.45e-1	SMART
G_patch	549	594	2.43e-16	SMART
R3H	586	663	1.25e-20	SMART

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 transcriptional repressor that interacts with specific negative regulatory elements to mediate transcriptional repression of certain nuclear factor kappa B responsive genes. The protein localizes predominantly to the nucleolus with a small fraction found in the nucleoplasm and cytoplasm. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous female and hemizygous male null mice are viable and fertile with normal inflammatory responses, response to infection, peripheral blood cell populations and skin morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 8,977,916 (GRCm39)	E498G	probably damaging	Het
Akr1c19	C	T	13: 4,298,128 (GRCm39)		probably benign	Het
Chd9	A	G	8: 91,710,118 (GRCm39)	Y298C	probably damaging	Het
Col14a1	T	C	15: 55,274,981 (GRCm39)	I739T	unknown	Het
Efcab5	A	C	11: 77,027,862 (GRCm39)	S490A	probably benign	Het
Evc2	T	C	5: 37,579,235 (GRCm39)	V1116A	probably benign	Het
Rel	A	G	11: 23,707,043 (GRCm39)	M53T	probably benign	Het
Spata31	C	T	13: 65,070,602 (GRCm39)	Q917*	probably null	Het
Traf3ip3	T	A	1: 192,869,446 (GRCm39)	K246N	probably damaging	Het
Trim69	A	G	2: 121,998,195 (GRCm39)	T56A	probably benign	Het

Other mutations in Nkrf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:Nkrf	APN	X	36,152,410 (GRCm39)	missense	probably damaging	1.00
R0309:Nkrf	UTSW	X	36,153,769 (GRCm39)	missense	probably damaging	1.00
R3607:Nkrf	UTSW	X	36,153,730 (GRCm39)	missense	probably benign	0.02
X0062:Nkrf	UTSW	X	36,153,515 (GRCm39)	missense	possibly damaging	0.53

Posted On

2012-12-06