Incidental Mutation 'R8126:Nfkbid'
ID 631759
Institutional Source Beutler Lab
Gene Symbol Nfkbid
Ensembl Gene ENSMUSG00000036931
Gene Name nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, delta
Synonyms IkappaBNS
MMRRC Submission 067555-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R8126 (G1)
Quality Score 222.009
Status Validated
Chromosome 7
Chromosomal Location 30121157-30128171 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30123799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 120 (S120T)
Ref Sequence ENSEMBL: ENSMUSP00000103811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046177] [ENSMUST00000075062] [ENSMUST00000108175] [ENSMUST00000108176] [ENSMUST00000208740]
AlphaFold Q2TB02
Predicted Effect probably benign
Transcript: ENSMUST00000046177
SMART Domains Protein: ENSMUSP00000042317
Gene: ENSMUSG00000036931

DomainStartEndE-ValueType
low complexity region 24 41 N/A INTRINSIC
low complexity region 71 83 N/A INTRINSIC
ANK 98 127 2.07e-2 SMART
ANK 131 160 1.5e1 SMART
ANK 166 215 5.58e1 SMART
ANK 220 250 4.93e0 SMART
ANK 257 290 8.39e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000075062
SMART Domains Protein: ENSMUSP00000074573
Gene: ENSMUSG00000064109

DomainStartEndE-ValueType
Pfam:DAP10 1 79 4.7e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108175
SMART Domains Protein: ENSMUSP00000103810
Gene: ENSMUSG00000036931

DomainStartEndE-ValueType
low complexity region 24 41 N/A INTRINSIC
low complexity region 71 83 N/A INTRINSIC
ANK 98 127 2.07e-2 SMART
ANK 131 160 1.5e1 SMART
ANK 166 215 5.58e1 SMART
ANK 220 250 4.93e0 SMART
ANK 257 290 8.39e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108176
AA Change: S120T

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103811
Gene: ENSMUSG00000036931
AA Change: S120T

DomainStartEndE-ValueType
low complexity region 24 41 N/A INTRINSIC
low complexity region 71 83 N/A INTRINSIC
ANK 98 127 2.07e-2 SMART
ANK 131 160 1.5e1 SMART
ANK 166 215 5.58e1 SMART
ANK 220 250 4.93e0 SMART
ANK 257 290 8.39e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000208740
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.0%
  • 20x: 97.3%
Validation Efficiency 95% (42/44)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele produce higher levels of IL-6 following stimulation and are more susceptible to chemically induced endotoxin shock and colitis. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(3)

Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Aplp1 T A 7: 30,141,164 (GRCm39) D299V probably damaging Het
Atad2 T C 15: 57,968,987 (GRCm39) I841M probably benign Het
Bdp1 T C 13: 100,192,790 (GRCm39) E1348G probably damaging Het
Cacna1a A G 8: 85,359,881 (GRCm39) T1948A probably benign Het
Cdh12 T C 15: 21,558,393 (GRCm39) Y431H probably benign Het
Cfap74 C A 4: 155,511,831 (GRCm39) D446E Het
Clpsl2 G A 17: 28,769,702 (GRCm39) G55R probably damaging Het
Col4a4 T C 1: 82,431,007 (GRCm39) T1632A unknown Het
Csnk2a2 G A 8: 96,182,575 (GRCm39) P296L Het
Cspg4b T A 13: 113,504,697 (GRCm39) I1942N Het
Cstl1 A G 2: 148,596,591 (GRCm39) E98G probably benign Het
Ddx49 A T 8: 70,748,246 (GRCm39) I303N probably damaging Het
Ddx60 C T 8: 62,436,945 (GRCm39) A965V probably benign Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Gm14295 A G 2: 176,502,658 (GRCm39) D716G probably benign Het
Gsap T A 5: 21,475,010 (GRCm39) H556Q probably benign Het
Hsp90b1 T C 10: 86,530,246 (GRCm39) I538V probably damaging Het
Ighv1-49 C T 12: 115,019,230 (GRCm39) probably benign Het
Lrrk1 T C 7: 65,942,063 (GRCm39) N725S probably damaging Het
Mfsd4b2 A G 10: 39,797,984 (GRCm39) S124P probably benign Het
Ncoa1 A T 12: 4,340,951 (GRCm39) L827Q probably damaging Het
Ncor2 T C 5: 125,183,268 (GRCm39) N59D unknown Het
Nktr T C 9: 121,575,514 (GRCm39) Y341H probably damaging Het
Npat T C 9: 53,463,634 (GRCm39) V139A probably benign Het
Or5ae1 T A 7: 84,565,114 (GRCm39) N42K probably damaging Het
Plxnb2 T C 15: 89,047,506 (GRCm39) D721G probably benign Het
Ppl C T 16: 4,906,725 (GRCm39) R1190H probably damaging Het
Ppp3ca T A 3: 136,608,952 (GRCm39) D348E probably damaging Het
Pramel21 T A 4: 143,343,635 (GRCm39) C312S possibly damaging Het
Rnf146 T C 10: 29,223,372 (GRCm39) I171M probably damaging Het
Snrpa G T 7: 26,892,373 (GRCm39) F62L possibly damaging Het
Spata3 C T 1: 85,952,075 (GRCm39) R110C unknown Het
Tbc1d2b T C 9: 90,104,369 (GRCm39) H591R probably benign Het
Tnfsf8 T G 4: 63,752,423 (GRCm39) D214A possibly damaging Het
Trdmt1 C T 2: 13,524,816 (GRCm39) R213H probably benign Het
Uspl1 C T 5: 149,151,430 (GRCm39) L877F probably damaging Het
Vmn1r22 C A 6: 57,877,669 (GRCm39) V103F possibly damaging Het
Vmn2r102 T C 17: 19,880,712 (GRCm39) S18P probably benign Het
Vmn2r-ps117 A T 17: 19,042,814 (GRCm39) Y74F probably benign Het
Wdr90 A G 17: 26,067,951 (GRCm39) F1429S possibly damaging Het
Zdhhc20 C A 14: 58,084,402 (GRCm39) V238F probably damaging Het
Other mutations in Nfkbid
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02377:Nfkbid APN 7 30,124,689 (GRCm39) nonsense probably null
IGL02809:Nfkbid APN 7 30,124,660 (GRCm39) missense possibly damaging 0.60
bumble UTSW 7 30,124,836 (GRCm39) critical splice donor site probably benign
R1515:Nfkbid UTSW 7 30,124,781 (GRCm39) missense probably benign 0.00
R5550:Nfkbid UTSW 7 30,125,426 (GRCm39) missense probably damaging 0.99
R6190:Nfkbid UTSW 7 30,125,162 (GRCm39) missense probably damaging 1.00
R6668:Nfkbid UTSW 7 30,123,866 (GRCm39) missense probably benign 0.00
R6994:Nfkbid UTSW 7 30,125,192 (GRCm39) missense probably benign
R7137:Nfkbid UTSW 7 30,125,681 (GRCm39) missense possibly damaging 0.60
R7788:Nfkbid UTSW 7 30,126,603 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATAACAGGCTGGTTCTGACC -3'
(R):5'- CATGGAGACTGAACCCCATG -3'

Sequencing Primer
(F):5'- GACCACCCTCTCTGTTTCAGG -3'
(R):5'- GAACTCATTCTGTAGCCCAGGTAG -3'
Posted On 2020-06-30