Incidental Mutation 'IGL01118:Nkrf'
ID 53338
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 # IGL01118
Quality Score
Status
Chromosome X
Chromosomal Location 36151193-36167166 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36152410 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BY02
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: 124,195,058 (GRCm39) R539Q probably benign Het
Abcb1a G A 5: 8,724,687 (GRCm39) R40H probably damaging Het
Acan T A 7: 78,748,401 (GRCm39) S1057R possibly damaging Het
Ahnak A T 19: 8,989,942 (GRCm39) D3742V probably damaging Het
Amdhd1 A T 10: 93,367,430 (GRCm39) D241E probably benign Het
Cntn5 T C 9: 9,831,565 (GRCm39) Y605C possibly damaging Het
Dnmt3l T C 10: 77,893,120 (GRCm39) F299S probably damaging Het
Eif1ad19 T A 12: 87,740,212 (GRCm39) N116Y probably damaging Het
Ess2 A T 16: 17,720,796 (GRCm39) I350N probably damaging Het
G6pd2 A T 5: 61,967,406 (GRCm39) M394L probably benign Het
Gm9839 A T 1: 32,558,924 (GRCm39) M386K probably benign Het
Gtf2h3 T C 5: 124,733,731 (GRCm39) V268A probably damaging Het
Hgs T C 11: 120,366,040 (GRCm39) V195A probably damaging Het
Igkv3-2 A T 6: 70,675,978 (GRCm39) S96C probably damaging Het
Mgl2 A G 11: 70,025,015 (GRCm39) E12G probably benign Het
Mup11 A T 4: 60,615,779 (GRCm39) F153I probably damaging Het
Nf1 T A 11: 79,437,812 (GRCm39) C2057S probably damaging Het
Noto T C 6: 85,401,192 (GRCm39) S74P probably benign Het
Or8k40 A G 2: 86,584,314 (GRCm39) I256T probably benign Het
Pax8 T C 2: 24,332,944 (GRCm39) probably benign Het
Psg28 A T 7: 18,162,017 (GRCm39) V162D probably damaging Het
Rai1 T C 11: 60,078,264 (GRCm39) F776S probably damaging Het
Taar8a A T 10: 23,952,759 (GRCm39) H121L probably damaging Het
Tas2r113 A G 6: 132,870,278 (GRCm39) N102S probably benign Het
Trpm1 A G 7: 63,885,572 (GRCm39) T863A probably benign Het
Ttf2 A G 3: 100,874,413 (GRCm39) probably benign Het
Wdr62 T C 7: 29,942,206 (GRCm39) H611R probably damaging Het
Wdr90 A T 17: 26,073,661 (GRCm39) L762Q probably damaging Het
Yeats2 T G 16: 20,005,054 (GRCm39) S364A probably damaging Het
Zdhhc15 G T X: 103,641,712 (GRCm39) Q82K probably benign Het
Other mutations in Nkrf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00663:Nkrf APN X 36,152,752 (GRCm39) missense possibly damaging 0.69
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 2013-06-21