Incidental Mutation 'R3607:Nkrf'
ID269146
Institutional Source Beutler Lab
Gene Symbol Nkrf
Ensembl Gene ENSMUSG00000044149
Gene NameNF-kappaB repressing factor
Synonyms9430034D17Rik
MMRRC Submission 040671-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3607 (G1)
Quality Score225
Status Validated
ChromosomeX
Chromosomal Location36887540-36902899 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 36890077 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Threonine at position 184 (N184T)
Ref Sequence ENSEMBL: ENSMUSP00000061546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057093]
Predicted Effect probably benign
Transcript: ENSMUST00000057093
AA Change: N184T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000061546
Gene: ENSMUSG00000044149
AA Change: N184T

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
Meta Mutation Damage Score 0.0585 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.3%
Validation Efficiency 98% (48/49)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930510E17Rik C A 9: 53,279,783 noncoding transcript Het
Adnp2 A T 18: 80,129,069 N708K probably damaging Het
Arhgef17 C A 7: 100,931,172 G190W probably damaging Het
Aspm T A 1: 139,480,668 M2431K probably benign Het
Aurkc A G 7: 7,002,860 Y157C probably damaging Het
Bpifb1 T A 2: 154,211,565 N242K possibly damaging Het
Cracr2b C T 7: 141,466,146 P370S possibly damaging Het
Etv1 A G 12: 38,831,086 Y66C probably damaging Het
F830016B08Rik A T 18: 60,300,708 K288* probably null Het
Fam131a C T 16: 20,701,595 P181L probably damaging Het
Fat2 T A 11: 55,281,685 E2734V probably damaging Het
Fgfrl1 C A 5: 108,705,423 T213K probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 119,160,716 probably benign Het
Gmfg T A 7: 28,441,536 probably null Het
Gtpbp8 T C 16: 44,743,756 Y184C probably damaging Het
Heatr5b T C 17: 78,834,217 E2G probably damaging Het
Itpr2 T G 6: 146,227,601 T2005P probably damaging Het
Kmt2a G A 9: 44,849,196 T485M probably damaging Het
Kng1 T C 16: 23,067,802 F112L probably damaging Het
Kprp C A 3: 92,824,281 Q487H unknown Het
Lctl T C 9: 64,133,193 Y473H probably damaging Het
Lpin2 T A 17: 71,229,392 D225E probably damaging Het
Myom2 T C 8: 15,069,775 V177A probably damaging Het
Nt5c1b A G 12: 10,377,236 N329D probably damaging Het
Ogdhl T A 14: 32,335,361 V308E probably damaging Het
Olfr304 A G 7: 86,385,695 C322R probably benign Het
Pcnx T A 12: 81,928,292 F791I probably damaging Het
Prkg2 G T 5: 98,947,377 T616K probably damaging Het
Psmd3 C T 11: 98,690,954 R302W probably damaging Het
Ptpn1 A G 2: 167,975,507 S355G probably benign Het
Pxdn A G 12: 29,990,918 N398D probably benign Het
Ranbp10 A G 8: 105,776,035 S300P probably benign Het
Rbl1 A T 2: 157,177,233 F531I probably damaging Het
Rgl3 A G 9: 21,987,691 S151P probably damaging Het
Rnf213 C A 11: 119,441,976 C2670* probably null Het
Tex16 T A X: 112,093,970 S159T probably damaging Het
Tnfaip3 A G 10: 19,005,602 I312T probably damaging Het
Traf2 T C 2: 25,530,415 T141A probably benign Het
Trpm7 T C 2: 126,796,428 probably benign Het
Usp11 T G X: 20,714,632 F426L probably damaging Het
Vcan G T 13: 89,703,301 T1180K probably damaging Het
Wasf1 G C 10: 40,936,384 A390P unknown Het
Yif1b C T 7: 29,238,410 A7V possibly damaging Het
Other mutations in Nkrf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00663:Nkrf APN X 36889099 missense possibly damaging 0.69
IGL01118:Nkrf APN X 36888757 missense probably damaging 1.00
R0309:Nkrf UTSW X 36890116 missense probably damaging 1.00
X0062:Nkrf UTSW X 36889862 missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- GGACCCATTCTTGCTACCTG -3'
(R):5'- TTTCACAAAAGACCAGCCTGTAG -3'

Sequencing Primer
(F):5'- GCTACCTGCATAACCTGTAGTTAGG -3'
(R):5'- GCCTGTAGCAACCAACATGTATTTTG -3'
Posted On2015-02-19