Incidental Mutation 'R5550:Nfkbid'
ID 435087
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 043107-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R5550 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 30121157-30128171 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30125426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 303 (L303Q)
Ref Sequence ENSEMBL: ENSMUSP00000103811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046177] [ENSMUST00000108175] [ENSMUST00000108176]
AlphaFold Q2TB02
Predicted Effect possibly damaging
Transcript: ENSMUST00000046177
AA Change: L160Q

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000042317
Gene: ENSMUSG00000036931
AA Change: L160Q

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: ENSMUST00000108175
AA Change: L160Q

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103810
Gene: ENSMUSG00000036931
AA Change: L160Q

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 damaging
Transcript: ENSMUST00000108176
AA Change: L303Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103811
Gene: ENSMUSG00000036931
AA Change: L303Q

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.3%
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,900,129 (GRCm39) I1295M probably benign Het
Adgrb2 G T 4: 129,908,727 (GRCm39) probably null Het
Adig A T 2: 158,349,880 (GRCm39) probably benign Het
Atp5po C A 16: 91,727,292 (GRCm39) V15F probably damaging Het
Bdh2 A G 3: 134,994,074 (GRCm39) K52R probably benign Het
Bud23 A G 5: 135,092,744 (GRCm39) V27A probably benign Het
Ces2b A G 8: 105,565,069 (GRCm39) D551G probably benign Het
Csmd3 G C 15: 48,048,753 (GRCm39) S446C probably damaging Het
Dio3 A T 12: 110,246,560 (GRCm39) T299S probably benign Het
Dnah1 T A 14: 31,038,665 (GRCm39) I139F probably benign Het
Dpy30 A G 17: 74,622,920 (GRCm39) Y21H probably benign Het
Gbp4 C T 5: 105,269,911 (GRCm39) V306M probably damaging Het
Gcat G A 15: 78,926,411 (GRCm39) V94M probably benign Het
H2bc27 A G 11: 58,840,146 (GRCm39) *127W probably null Het
Henmt1 A G 3: 108,861,184 (GRCm39) Y69C probably damaging Het
Kank4 A G 4: 98,659,678 (GRCm39) F800S probably benign Het
Lrrc37a T A 11: 103,389,003 (GRCm39) T2141S unknown Het
Map3k4 G A 17: 12,462,445 (GRCm39) R1143* probably null Het
Mdc1 A G 17: 36,156,776 (GRCm39) D61G possibly damaging Het
Or2ag15 T C 7: 106,340,340 (GRCm39) N267S probably benign Het
Or6c75 A G 10: 129,337,652 (GRCm39) N300D probably damaging Het
P2ry1 T C 3: 60,911,232 (GRCm39) C124R probably damaging Het
Sntg1 C T 1: 8,695,008 (GRCm39) C153Y probably damaging Het
Speg A T 1: 75,405,744 (GRCm39) T2983S probably damaging Het
Tbc1d2 G A 4: 46,646,138 (GRCm39) P163S probably benign Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tnks2 T A 19: 36,839,746 (GRCm39) V78E probably damaging Het
Trip12 A G 1: 84,738,820 (GRCm39) C709R probably damaging Het
Xpo5 T A 17: 46,545,418 (GRCm39) V828D possibly 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
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
R8126:Nfkbid UTSW 7 30,123,799 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- ATTGTGGAAGACCTGCTGAG -3'
(R):5'- AATTCTGCATCCTTGGACACAC -3'

Sequencing Primer
(F):5'- AAGACCTGCTGAGCCTGG -3'
(R):5'- TCCTTGGACACACACTAGCTGG -3'
Posted On 2016-10-24