Incidental Mutation 'R6668:Nfkbid'
ID 527064
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 044788-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R6668 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 30121157-30128171 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30123866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 142 (L142Q)
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: L142Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000103811
Gene: ENSMUSG00000036931
AA Change: L142Q

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 noncoding transcript
Transcript: ENSMUST00000153042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207504
Predicted Effect probably benign
Transcript: ENSMUST00000208740
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (42/42)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat G T 11: 116,486,868 (GRCm39) probably benign Het
Adam26b A T 8: 43,973,727 (GRCm39) V425D possibly damaging Het
Ahctf1 A G 1: 179,579,972 (GRCm39) S2077P probably benign Het
Amacr A G 15: 10,983,468 (GRCm39) T93A probably benign Het
Arsb T A 13: 93,930,728 (GRCm39) probably null Het
Bcas3 G A 11: 85,692,677 (GRCm39) R354Q probably damaging Het
Chia1 C T 3: 106,038,264 (GRCm39) L387F probably damaging Het
Cyp24a1 A T 2: 170,327,805 (GRCm39) probably null Het
Dennd4a G A 9: 64,794,247 (GRCm39) G689S probably damaging Het
Elovl4 G A 9: 83,688,039 (GRCm39) A18V probably benign Het
Fam135a A T 1: 24,067,929 (GRCm39) V80E probably damaging Het
Fmo2 T A 1: 162,704,617 (GRCm39) T430S probably benign Het
Fpgs T C 2: 32,577,618 (GRCm39) I213V probably benign Het
Gm10134 A T 2: 28,396,263 (GRCm39) R53* probably null Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Ift172 T C 5: 31,412,683 (GRCm39) N1524S probably benign Het
Kif1b G A 4: 149,297,864 (GRCm39) S1104F probably benign Het
Map3k21 T C 8: 126,652,852 (GRCm39) V326A possibly damaging Het
Mlst8 A G 17: 24,696,453 (GRCm39) probably null Het
Muc16 A T 9: 18,551,681 (GRCm39) S4871T probably benign Het
Myo1d A G 11: 80,474,701 (GRCm39) probably benign Het
Ndufa3 A G 7: 3,622,465 (GRCm39) Y41C probably damaging Het
Or8b38 T A 9: 37,973,066 (GRCm39) M150K possibly damaging Het
Peg10 T A 6: 4,754,502 (GRCm39) D94E probably benign Het
Phactr3 A T 2: 177,974,657 (GRCm39) I492F probably damaging Het
Plxna2 T C 1: 194,492,396 (GRCm39) V1751A possibly damaging Het
Prss16 T C 13: 22,190,918 (GRCm39) E238G probably null Het
Rad51ap2 T C 12: 11,507,647 (GRCm39) V523A probably benign Het
Rbm33 T A 5: 28,547,498 (GRCm39) S223T probably benign Het
Ryk T A 9: 102,746,475 (GRCm39) F137I possibly damaging Het
Sars2 G A 7: 28,446,429 (GRCm39) E194K probably benign Het
Spata2l T C 8: 123,960,167 (GRCm39) D374G probably damaging Het
Tenm2 A G 11: 35,937,592 (GRCm39) probably null Het
Ubr4 A G 4: 139,192,652 (GRCm39) K1097E probably damaging Het
Ulk4 A T 9: 121,017,408 (GRCm39) V690E probably damaging Het
Usp34 A G 11: 23,410,659 (GRCm39) N2703S probably damaging Het
Zfp273 C G 13: 67,973,243 (GRCm39) L124V probably damaging Het
Zfp608 A G 18: 55,031,091 (GRCm39) S950P probably damaging Het
Zfp994 A T 17: 22,420,081 (GRCm39) H289Q 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
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
R8126:Nfkbid UTSW 7 30,123,799 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- AGAGACTGTGGATTCCGGAC -3'
(R):5'- AGCAAAACTCCCAATAGTCTTTCTG -3'

Sequencing Primer
(F):5'- TGGATTCCGGACCTGGCAAC -3'
(R):5'- CCTATTATTGTGGCTAGGGCAATC -3'
Posted On 2018-07-23