Incidental Mutation 'IGL01118:Nkrf'
ID53338
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nkrf
Ensembl Gene ENSMUSG00000044149
Gene NameNF-kappaB repressing factor
Synonyms9430034D17Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01118
Quality Score
Status
ChromosomeX
Chromosomal Location36887540-36902899 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36888757 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 624 (F624S)
Ref Sequence ENSEMBL: ENSMUSP00000061546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016452] [ENSMUST00000057093] [ENSMUST00000201068]
Predicted Effect probably benign
Transcript: ENSMUST00000016452
SMART Domains Protein: ENSMUSP00000016452
Gene: ENSMUSG00000016308

DomainStartEndE-ValueType
UBCc 7 150 5.7e-73 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000057093
AA Change: F624S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061546
Gene: ENSMUSG00000044149
AA Change: F624S

DomainStartEndE-ValueType
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
Predicted Effect probably benign
Transcript: ENSMUST00000201068
SMART Domains Protein: ENSMUSP00000143836
Gene: ENSMUSG00000016308

DomainStartEndE-ValueType
UBCc 7 120 5.48e-34 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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C T 3: 124,401,409 R539Q probably benign Het
Abcb1a G A 5: 8,674,687 R40H probably damaging Het
Acan T A 7: 79,098,653 S1057R possibly damaging Het
Ahnak A T 19: 9,012,578 D3742V probably damaging Het
Amdhd1 A T 10: 93,531,568 D241E probably benign Het
Cntn5 T C 9: 9,831,560 Y605C possibly damaging Het
Dgcr14 A T 16: 17,902,932 I350N probably damaging Het
Dnmt3l T C 10: 78,057,286 F299S probably damaging Het
G6pd2 A T 5: 61,810,063 M394L probably benign Het
Gm21319 T A 12: 87,773,442 N116Y probably damaging Het
Gm9839 A T 1: 32,519,843 M386K probably benign Het
Gtf2h3 T C 5: 124,595,668 V268A probably damaging Het
Hgs T C 11: 120,475,214 V195A probably damaging Het
Igkv3-2 A T 6: 70,698,994 S96C probably damaging Het
Mgl2 A G 11: 70,134,189 E12G probably benign Het
Mup11 A T 4: 60,659,780 F153I probably damaging Het
Nf1 T A 11: 79,546,986 C2057S probably damaging Het
Noto T C 6: 85,424,210 S74P probably benign Het
Olfr1090 A G 2: 86,753,970 I256T probably benign Het
Pax8 T C 2: 24,442,932 probably benign Het
Psg28 A T 7: 18,428,092 V162D probably damaging Het
Rai1 T C 11: 60,187,438 F776S probably damaging Het
Taar8a A T 10: 24,076,861 H121L probably damaging Het
Tas2r113 A G 6: 132,893,315 N102S probably benign Het
Trpm1 A G 7: 64,235,824 T863A probably benign Het
Ttf2 A G 3: 100,967,097 probably benign Het
Wdr62 T C 7: 30,242,781 H611R probably damaging Het
Wdr90 A T 17: 25,854,687 L762Q probably damaging Het
Yeats2 T G 16: 20,186,304 S364A probably damaging Het
Zdhhc15 G T X: 104,598,106 Q82K probably benign Het
Other mutations in Nkrf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00663:Nkrf APN X 36889099 missense possibly damaging 0.69
R0309:Nkrf UTSW X 36890116 missense probably damaging 1.00
R3607:Nkrf UTSW X 36890077 missense probably benign 0.02
X0062:Nkrf UTSW X 36889862 missense possibly damaging 0.53
Posted On2013-06-21