Incidental Mutation 'R7137:Nfkbid'
ID 553127
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 045248-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R7137 (G1)
Quality Score 218.009
Status Not validated
Chromosome 7
Chromosomal Location 30121157-30128171 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30125681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 357 (T357A)
Ref Sequence ENSEMBL: ENSMUSP00000103811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046177] [ENSMUST00000108175] [ENSMUST00000108176]
AlphaFold Q2TB02
Predicted Effect probably benign
Transcript: ENSMUST00000046177
AA Change: T214A

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000042317
Gene: ENSMUSG00000036931
AA Change: T214A

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: ENSMUST00000108175
AA Change: T214A

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103810
Gene: ENSMUSG00000036931
AA Change: T214A

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 possibly damaging
Transcript: ENSMUST00000108176
AA Change: T357A

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103811
Gene: ENSMUSG00000036931
AA Change: T357A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,654,944 (GRCm39) S1423P possibly damaging Het
Acvr1c A G 2: 58,173,399 (GRCm39) probably null Het
Adgrf5 A G 17: 43,761,788 (GRCm39) K1161R probably damaging Het
Aoc1l3 A G 6: 48,967,083 (GRCm39) Y677C probably damaging Het
Arhgap32 T G 9: 32,063,232 (GRCm39) D80E probably benign Het
Aspg T C 12: 112,078,632 (GRCm39) V30A possibly damaging Het
Bcl2a1d T C 9: 88,613,531 (GRCm39) D81G probably damaging Het
Cep170b T C 12: 112,701,601 (GRCm39) V160A probably benign Het
Ces1c T C 8: 93,857,470 (GRCm39) Y37C probably benign Het
Cntnap5a T C 1: 116,017,106 (GRCm39) L233P probably damaging Het
Crem C A 18: 3,273,459 (GRCm39) A245S possibly damaging Het
Cyp2d12 C T 15: 82,442,022 (GRCm39) A280V probably benign Het
Dnah2 C T 11: 69,382,381 (GRCm39) G1243D probably damaging Het
Eif1ad19 A T 12: 87,740,316 (GRCm39) L81Q possibly damaging Het
Emcn T G 3: 137,109,752 (GRCm39) N131K probably damaging Het
Fat3 A T 9: 15,908,444 (GRCm39) D2519E probably damaging Het
Fibin T A 2: 110,193,001 (GRCm39) D47V probably damaging Het
Fsd1 G A 17: 56,300,876 (GRCm39) R245H probably damaging Het
Gimap8 C A 6: 48,627,187 (GRCm39) L54I probably damaging Het
Gm20481 A G 17: 35,189,071 (GRCm39) Y27C unknown Het
Grin1 T G 2: 25,203,550 (GRCm39) M154L probably benign Het
Ighv8-13 A G 12: 115,729,197 (GRCm39) L20P probably damaging Het
Insc G A 7: 114,410,850 (GRCm39) V236I probably benign Het
Lrrk1 A G 7: 65,935,027 (GRCm39) F1031L probably benign Het
Man2a2 C A 7: 80,009,499 (GRCm39) R785L probably benign Het
Mcur1 C A 13: 43,697,931 (GRCm39) probably null Het
Med12l A C 3: 59,165,675 (GRCm39) R1464S probably damaging Het
Mycbp2 A T 14: 103,520,115 (GRCm39) M767K possibly damaging Het
Naalad2 T C 9: 18,234,783 (GRCm39) I762V probably benign Het
Pcdh17 A G 14: 84,770,989 (GRCm39) R1156G possibly damaging Het
Pcdhb1 T C 18: 37,400,445 (GRCm39) S799P possibly damaging Het
Pde3a A T 6: 141,444,472 (GRCm39) E1093D probably benign Het
Plcg1 T C 2: 160,595,846 (GRCm39) Y572H possibly damaging Het
Plxna4 A G 6: 32,494,199 (GRCm39) L139P probably damaging Het
Psma1 A G 7: 113,873,683 (GRCm39) Y6H probably damaging Het
Psmd2 A G 16: 20,471,377 (GRCm39) E76G probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Pyy T G 11: 101,998,099 (GRCm39) D27A possibly damaging Het
Slc22a2 A G 17: 12,803,228 (GRCm39) T21A probably benign Het
Slc25a2 T C 18: 37,771,200 (GRCm39) I110V probably benign Het
Sult1c2 A C 17: 54,145,422 (GRCm39) W85G probably damaging Het
Syt12 C T 19: 4,503,978 (GRCm39) D218N probably damaging Het
Tln1 C T 4: 43,540,616 (GRCm39) V1462M probably damaging Het
Tor1aip2 T A 1: 155,927,722 (GRCm39) N33K possibly damaging Het
Usp17lb C A 7: 104,490,798 (GRCm39) W43L probably benign Het
Vmn1r76 A G 7: 11,664,612 (GRCm39) Y201H possibly damaging Het
Wnk1 C A 6: 120,015,173 (GRCm39) probably benign Het
Wrnip1 A G 13: 32,986,732 (GRCm39) D171G probably benign Het
Zar1 T A 5: 72,738,159 (GRCm39) N81I probably damaging Het
Zbtb45 T C 7: 12,741,083 (GRCm39) T392A probably benign Het
Zfp445 T C 9: 122,683,843 (GRCm39) E272G 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
R7788:Nfkbid UTSW 7 30,126,603 (GRCm39) missense probably damaging 1.00
R8126:Nfkbid UTSW 7 30,123,799 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- TGCAAGTCCCTCGCTATGTG -3'
(R):5'- GACTGAATCATAAGTACGGGAGCTG -3'

Sequencing Primer
(F):5'- GTGCATTCCACAGGCCTTAC -3'
(R):5'- CATTTAGTGCCCCTGGA -3'
Posted On 2019-05-15