Incidental Mutation 'R7226:Nfkbie'
ID 562194
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 045298-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.399) question?
Stock # R7226 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 45866629-45874095 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45870153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 166 (V166A)
Ref Sequence ENSEMBL: ENSMUSP00000024742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024742] [ENSMUST00000041353] [ENSMUST00000223987] [ENSMUST00000224905] [ENSMUST00000226086]
AlphaFold O54910
Predicted Effect possibly damaging
Transcript: ENSMUST00000024742
AA Change: V166A

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000024742
Gene: ENSMUSG00000023947
AA Change: V166A

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: ENSMUST00000224905
Predicted Effect probably benign
Transcript: ENSMUST00000226086
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025B11Rik C T 15: 77,443,189 (GRCm39) V17I unknown Het
Acad8 T A 9: 26,889,726 (GRCm39) K323* probably null Het
Adam18 A T 8: 25,137,824 (GRCm39) C339S probably damaging Het
Anxa7 A G 14: 20,510,263 (GRCm39) F396L probably damaging Het
Ap2m1 T A 16: 20,358,201 (GRCm39) V73D probably damaging Het
Asic2 A T 11: 80,862,340 (GRCm39) I270N probably damaging Het
Atrn T G 2: 130,828,664 (GRCm39) C1070G probably damaging Het
Bag6 A G 17: 35,361,921 (GRCm39) N517S unknown Het
Bhmt1b A G 18: 87,775,590 (GRCm39) D371G possibly damaging Het
Bltp3b A T 10: 89,644,503 (GRCm39) Q1181L probably benign Het
Cavin1 A C 11: 100,861,284 (GRCm39) D3E probably benign Het
Cc2d2b T C 19: 40,779,751 (GRCm39) L571P unknown Het
Ccbe1 A T 18: 66,216,199 (GRCm39) C175S probably damaging Het
Cd19 A G 7: 126,013,995 (GRCm39) L5P unknown Het
Cd46 A G 1: 194,724,314 (GRCm39) S362P possibly damaging Het
Celf5 A G 10: 81,303,863 (GRCm39) S198P probably damaging Het
Cep170b A G 12: 112,704,359 (GRCm39) R706G possibly damaging Het
Chd3 G T 11: 69,260,037 (GRCm39) R61S unknown Het
Cpsf6 A C 10: 117,197,727 (GRCm39) W253G unknown Het
Cyp27a1 G A 1: 74,776,507 (GRCm39) G481D probably damaging Het
Ddr1 C T 17: 36,002,039 (GRCm39) D218N possibly damaging Het
Dhx34 A T 7: 15,932,801 (GRCm39) V1046D probably damaging Het
Dhx9 A T 1: 153,341,423 (GRCm39) D608E probably benign Het
Dnajc6 C A 4: 101,496,569 (GRCm39) A912E probably damaging Het
Ehmt1 T C 2: 24,694,794 (GRCm39) D1051G probably damaging Het
Fam217b C A 2: 178,062,996 (GRCm39) A320E probably benign Het
Farsa T A 8: 85,590,689 (GRCm39) I169N probably benign Het
Fbn2 A G 18: 58,170,142 (GRCm39) C2210R probably damaging Het
Fbxo3 T A 2: 103,880,642 (GRCm39) S251T probably benign Het
Fer1l6 C T 15: 58,462,384 (GRCm39) T813I probably benign Het
Ftl1-ps1 A T 13: 74,555,114 (GRCm39) E131V probably damaging Het
Gins3 T A 8: 96,364,499 (GRCm39) I83N probably damaging Het
Gja3 T C 14: 57,273,350 (GRCm39) T341A probably benign Het
Gja5 A G 3: 96,958,174 (GRCm39) Y77C probably damaging Het
Gm7247 A G 14: 51,602,808 (GRCm39) K48R probably damaging Het
Gsx2 C A 5: 75,236,621 (GRCm39) S67* probably null Het
H2-Q5 T A 17: 35,616,089 (GRCm39) L217Q Het
Impg2 T A 16: 56,087,467 (GRCm39) C1095* probably null Het
Itga7 G T 10: 128,776,801 (GRCm39) W222L probably damaging Het
Kdm2b T A 5: 123,059,512 (GRCm39) D530V possibly damaging Het
Klhdc8a A T 1: 132,230,344 (GRCm39) D153V probably damaging Het
Lin28a C T 4: 133,733,619 (GRCm39) G143S probably damaging Het
Memo1 A G 17: 74,509,338 (GRCm39) L227S probably damaging Het
Mettl27 T A 5: 134,964,657 (GRCm39) V138E probably damaging Het
Mov10 G T 3: 104,708,328 (GRCm39) L474I probably damaging Het
Nat10 T C 2: 103,557,098 (GRCm39) N852S probably benign Het
Nktr T C 9: 121,575,599 (GRCm39) M369T probably damaging Het
Nlrp9a A T 7: 26,258,149 (GRCm39) N589I probably benign Het
Nrn1 G A 13: 36,914,577 (GRCm39) R8C probably benign Het
Nrsn1 A G 13: 25,437,451 (GRCm39) I159T probably damaging Het
Or1e29 A G 11: 73,667,503 (GRCm39) S217P possibly damaging Het
Or2h15 C T 17: 38,441,324 (GRCm39) G253D probably benign Het
Or5p61 A T 7: 107,758,164 (GRCm39) D305E probably benign Het
Or6c88 G A 10: 129,406,584 (GRCm39) G20D probably benign Het
Osbp T A 19: 11,956,031 (GRCm39) D385E probably benign Het
Pan3 T A 5: 147,463,802 (GRCm39) N547K probably damaging Het
Pip4p2 T A 4: 14,892,464 (GRCm39) D109E probably damaging Het
Pum1 C A 4: 130,499,292 (GRCm39) T1036K probably damaging Het
Rad54l2 C A 9: 106,590,671 (GRCm39) R485L probably damaging Het
Rps26 A T 10: 128,461,087 (GRCm39) F101I unknown Het
Sdsl T C 5: 120,598,702 (GRCm39) N138S probably benign Het
Slc28a2b C A 2: 122,353,013 (GRCm39) R453S probably benign Het
Slc39a6 A T 18: 24,717,084 (GRCm39) H649Q probably damaging Het
Snip1 T A 4: 124,965,273 (GRCm39) F226Y probably benign Het
Srrd T C 5: 112,485,322 (GRCm39) T334A unknown Het
St14 C T 9: 31,011,448 (GRCm39) D448N possibly damaging Het
Tmem270 T A 5: 134,930,538 (GRCm39) Q241L probably benign Het
Tubb4b T C 2: 25,114,180 (GRCm39) D41G probably benign Het
Usf3 T C 16: 44,040,368 (GRCm39) M1616T possibly damaging Het
Vmn2r95 A T 17: 18,672,245 (GRCm39) I733F possibly damaging Het
Zfp976 A T 7: 42,262,684 (GRCm39) C385* probably null 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
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
R8915:Nfkbie UTSW 17 45,871,067 (GRCm39) missense probably benign 0.01
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'- TCCTAAGCATTTGGGGAGGG -3'
(R):5'- CCTTGCCAGTTCTTCAGTTGGAG -3'

Sequencing Primer
(F):5'- AGGGGTTCAGGAGTAATTTCAC -3'
(R):5'- GTCCAGGGGATGAGAAAGCTGTC -3'
Posted On 2019-06-26