Incidental Mutation 'R8915:Nfkbie'
ID 678902
Institutional Source Beutler Lab
Gene Symbol Nfkbie
Ensembl Gene ENSMUSG00000023947
Gene Name nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, epsilon
Synonyms
MMRRC Submission 068703-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.399) question?
Stock # R8915 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 45866629-45874095 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45871067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 240 (I240V)
Ref Sequence ENSEMBL: ENSMUSP00000024742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024742] [ENSMUST00000041353] [ENSMUST00000223987] [ENSMUST00000224905] [ENSMUST00000226086]
AlphaFold O54910
Predicted Effect probably benign
Transcript: ENSMUST00000024742
AA Change: I240V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000024742
Gene: ENSMUSG00000023947
AA Change: I240V

DomainStartEndE-ValueType
low complexity region 36 48 N/A INTRINSIC
low complexity region 93 110 N/A INTRINSIC
ANK 122 152 1.14e2 SMART
ANK 157 187 2.15e0 SMART
ANK 190 219 6.81e-3 SMART
ANK 233 262 5.09e-2 SMART
ANK 267 296 1.12e-3 SMART
ANK 300 329 1e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000041353
SMART Domains Protein: ENSMUSP00000037834
Gene: ENSMUSG00000037089

DomainStartEndE-ValueType
Pfam:UAA 62 363 5.1e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223987
Predicted Effect probably benign
Transcript: ENSMUST00000224341
Predicted Effect probably benign
Transcript: ENSMUST00000224905
Predicted Effect probably benign
Transcript: ENSMUST00000226086
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein targets it for destruction by the ubiquitin pathway, which activates NF-kappa-B by making it available to translocate to the nucleus. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for disruptions of this gene display an essentially normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 T A 7: 43,903,751 (GRCm39) H217L possibly damaging Het
Adgrv1 C T 13: 81,715,558 (GRCm39) V877I probably damaging Het
Aste1 G A 9: 105,273,880 (GRCm39) C40Y probably benign Het
Asxl3 T A 18: 22,657,763 (GRCm39) D1924E probably benign Het
Bmp4 T A 14: 46,621,902 (GRCm39) E214V probably damaging Het
Calhm5 T C 10: 33,968,415 (GRCm39) S213G probably benign Het
Carmil1 A G 13: 24,325,709 (GRCm39) L207P probably damaging Het
Cdh24 T C 14: 54,876,612 (GRCm39) D71G probably damaging Het
Cdhr2 G T 13: 54,874,184 (GRCm39) W752L probably benign Het
Clec1b T C 6: 129,382,212 (GRCm39) *230Q probably null Het
Ctbs T C 3: 146,169,724 (GRCm39) V327A probably benign Het
Cyp2c40 A T 19: 39,795,991 (GRCm39) I129N probably benign Het
Dnajc10 T A 2: 80,147,801 (GRCm39) L21H possibly damaging Het
Dysf A G 6: 84,156,736 (GRCm39) D1487G probably benign Het
Epb42 T C 2: 120,849,987 (GRCm39) Q674R possibly damaging Het
Foxb2 T C 19: 16,850,958 (GRCm39) Y16C unknown Het
Fto T C 8: 92,136,471 (GRCm39) probably null Het
Gcfc2 A G 6: 81,918,347 (GRCm39) K346E probably benign Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpam A G 19: 55,077,312 (GRCm39) S160P probably benign Het
Has2 C T 15: 56,531,885 (GRCm39) V277I probably damaging Het
Herc1 T C 9: 66,318,456 (GRCm39) Y1243H probably damaging Het
Hhat C T 1: 192,277,203 (GRCm39) E419K probably benign Het
Hsd17b11 T C 5: 104,140,802 (GRCm39) probably null Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Lactbl1 G T 4: 136,360,243 (GRCm39) A141S probably benign Het
Ncoa5 T C 2: 164,854,927 (GRCm39) D65G possibly damaging Het
Nim1k T A 13: 120,173,874 (GRCm39) D340V probably benign Het
Oas2 T C 5: 120,876,449 (GRCm39) K498R possibly damaging Het
Or52e2 C T 7: 102,804,411 (GRCm39) C181Y probably damaging Het
Pard6g T C 18: 80,160,957 (GRCm39) S357P probably damaging Het
Pigk G A 3: 152,472,098 (GRCm39) E384K probably benign Het
Ppp4r1 T C 17: 66,136,376 (GRCm39) V528A probably damaging Het
Rbm34 A G 8: 127,679,908 (GRCm39) probably benign Het
Rnd1 A G 15: 98,575,181 (GRCm39) V17A probably damaging Het
Ros1 C T 10: 51,977,805 (GRCm39) probably benign Het
Samd14 A C 11: 94,912,027 (GRCm39) D168A probably damaging Het
Scin T C 12: 40,123,432 (GRCm39) S484G probably damaging Het
Scn11a C T 9: 119,603,363 (GRCm39) W1101* probably null Het
Scrn3 T A 2: 73,148,636 (GRCm39) V69D probably damaging Het
Serpina3j A G 12: 104,281,309 (GRCm39) T161A probably benign Het
Sh3bp4 C A 1: 89,080,064 (GRCm39) A873D probably damaging Het
Tmem131 A T 1: 36,868,658 (GRCm39) I389N probably damaging Het
Tpp2 T C 1: 44,016,415 (GRCm39) L690P probably damaging Het
Trip13 T C 13: 74,081,085 (GRCm39) T94A probably benign Het
Vmn1r114 A T 7: 20,545,171 (GRCm39) L314* probably null Het
Vmn2r44 A G 7: 8,370,650 (GRCm39) Y799H probably damaging Het
Zfp574 T C 7: 24,780,769 (GRCm39) L597P probably damaging Het
Zfp944 A T 17: 22,558,507 (GRCm39) C247S probably benign Het
Other mutations in Nfkbie
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Nfkbie APN 17 45,871,139 (GRCm39) critical splice donor site probably null
IGL01331:Nfkbie APN 17 45,869,495 (GRCm39) missense probably benign 0.41
IGL01787:Nfkbie APN 17 45,867,189 (GRCm39) missense probably damaging 1.00
IGL02162:Nfkbie APN 17 45,867,242 (GRCm39) critical splice donor site probably null
R2092:Nfkbie UTSW 17 45,869,465 (GRCm39) missense probably benign 0.06
R4289:Nfkbie UTSW 17 45,869,516 (GRCm39) missense probably damaging 1.00
R4512:Nfkbie UTSW 17 45,867,165 (GRCm39) missense probably benign 0.00
R4609:Nfkbie UTSW 17 45,869,510 (GRCm39) missense probably damaging 1.00
R4720:Nfkbie UTSW 17 45,867,232 (GRCm39) missense probably benign 0.19
R5420:Nfkbie UTSW 17 45,871,132 (GRCm39) missense probably benign 0.01
R7226:Nfkbie UTSW 17 45,870,153 (GRCm39) missense possibly damaging 0.85
R7304:Nfkbie UTSW 17 45,871,067 (GRCm39) missense possibly damaging 0.95
R7472:Nfkbie UTSW 17 45,870,233 (GRCm39) missense probably damaging 0.97
R8326:Nfkbie UTSW 17 45,870,234 (GRCm39) missense probably damaging 1.00
R9038:Nfkbie UTSW 17 45,870,183 (GRCm39) missense probably damaging 0.99
R9045:Nfkbie UTSW 17 45,872,959 (GRCm39) missense probably damaging 1.00
R9485:Nfkbie UTSW 17 45,871,353 (GRCm39) missense probably damaging 1.00
Z1177:Nfkbie UTSW 17 45,871,434 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGACCCTTGAAGCATAAAAG -3'
(R):5'- TATGTTTGACGCTGCCAGG -3'

Sequencing Primer
(F):5'- CCGAAAAAGTGGAAACTTTGAGTTCC -3'
(R):5'- GGGACCTGTAGTTAGACCAGGTG -3'
Posted On 2021-08-02