Incidental Mutation 'IGL02661:Nfkbil1'
ID 302543
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfkbil1
Ensembl Gene ENSMUSG00000042419
Gene Name nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor like 1
Synonyms Def-7
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02661
Quality Score
Status
Chromosome 17
Chromosomal Location 35439151-35454768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 35439647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 289 (A289S)
Ref Sequence ENSEMBL: ENSMUSP00000035452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048994] [ENSMUST00000118793]
AlphaFold O88995
Predicted Effect probably benign
Transcript: ENSMUST00000048994
AA Change: A289S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035452
Gene: ENSMUSG00000042419
AA Change: A289S

DomainStartEndE-ValueType
low complexity region 30 40 N/A INTRINSIC
ANK 65 94 1.01e2 SMART
ANK 98 131 3.81e2 SMART
low complexity region 153 165 N/A INTRINSIC
low complexity region 261 270 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176748
SMART Domains Protein: ENSMUSP00000134846
Gene: ENSMUSG00000042419

DomainStartEndE-ValueType
low complexity region 25 37 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a divergent member of the I-kappa-B family of proteins. Its function has not been determined. The gene lies within the major histocompatibility complex (MHC) class I region on chromosome 6. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034E13Rik G T 18: 52,793,566 (GRCm39) W33L probably damaging Het
Adam34 A T 8: 44,104,572 (GRCm39) C358S probably damaging Het
Ak5 C A 3: 152,169,593 (GRCm39) V561F probably benign Het
Ap1s1 T C 5: 137,066,327 (GRCm39) D158G probably benign Het
Bard1 A G 1: 71,114,469 (GRCm39) S171P probably damaging Het
Bsn A C 9: 107,984,135 (GRCm39) Y534* probably null Het
Clcn4 A T 7: 7,294,730 (GRCm39) probably null Het
Cyp2j7 T C 4: 96,124,887 (GRCm39) T4A probably benign Het
Dnajc10 T A 2: 80,157,084 (GRCm39) probably benign Het
Dtl G T 1: 191,273,483 (GRCm39) T475N probably benign Het
Eif3m T C 2: 104,835,314 (GRCm39) Y120C probably damaging Het
Gab1 A G 8: 81,515,566 (GRCm39) S251P probably damaging Het
Gba1 T A 3: 89,110,834 (GRCm39) V14E probably benign Het
Ggcx C T 6: 72,395,343 (GRCm39) P145S possibly damaging Het
Gm13889 G A 2: 93,787,024 (GRCm39) T150I probably benign Het
Gm4978 C A 9: 69,358,180 (GRCm39) probably benign Het
Herc2 A G 7: 55,762,821 (GRCm39) D850G probably damaging Het
Hspa1l A G 17: 35,196,251 (GRCm39) I97V probably benign Het
Ighv1-4 T G 12: 114,450,850 (GRCm39) K86T probably damaging Het
Ints4 C A 7: 97,144,912 (GRCm39) L175I probably benign Het
Kif13b T G 14: 65,005,140 (GRCm39) V1144G probably benign Het
Kpna3 T A 14: 61,610,398 (GRCm39) probably benign Het
Man2c1 A G 9: 57,044,766 (GRCm39) D371G probably damaging Het
Mtf1 T C 4: 124,718,902 (GRCm39) L305P probably damaging Het
Myo15b T G 11: 115,774,895 (GRCm39) V2139G probably benign Het
Nalcn T C 14: 123,830,321 (GRCm39) probably benign Het
Neurod2 T C 11: 98,218,405 (GRCm39) Q253R possibly damaging Het
Or4k35 T A 2: 111,099,811 (GRCm39) R300S possibly damaging Het
Paxbp1 A T 16: 90,827,413 (GRCm39) I474K probably benign Het
Pde6c A T 19: 38,169,248 (GRCm39) I798F probably damaging Het
Pon3 T A 6: 5,256,205 (GRCm39) T8S probably benign Het
Prkdc A G 16: 15,587,689 (GRCm39) T2525A possibly damaging Het
Rnase10 T G 14: 51,247,273 (GRCm39) V180G probably damaging Het
Rreb1 T A 13: 38,114,778 (GRCm39) C712* probably null Het
Scamp2 T C 9: 57,494,697 (GRCm39) probably benign Het
Serpina3i A T 12: 104,231,515 (GRCm39) K51* probably null Het
Smyd4 C A 11: 75,281,767 (GRCm39) C413* probably null Het
Spata2 C T 2: 167,325,281 (GRCm39) V513M probably damaging Het
Sri T A 5: 8,113,252 (GRCm39) probably benign Het
Urah A T 7: 140,417,618 (GRCm39) K119M probably damaging Het
Wdr19 C T 5: 65,403,151 (GRCm39) T1005I probably benign Het
Other mutations in Nfkbil1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02041:Nfkbil1 APN 17 35,439,934 (GRCm39) missense probably benign 0.14
IGL02220:Nfkbil1 APN 17 35,439,722 (GRCm39) missense possibly damaging 0.63
IGL03347:Nfkbil1 APN 17 35,439,559 (GRCm39) missense probably damaging 0.99
R1630:Nfkbil1 UTSW 17 35,440,140 (GRCm39) missense probably damaging 1.00
R3930:Nfkbil1 UTSW 17 35,439,932 (GRCm39) missense probably benign 0.08
R4115:Nfkbil1 UTSW 17 35,440,286 (GRCm39) missense probably damaging 1.00
R5152:Nfkbil1 UTSW 17 35,440,384 (GRCm39) intron probably benign
R5995:Nfkbil1 UTSW 17 35,439,774 (GRCm39) missense probably benign 0.26
R9497:Nfkbil1 UTSW 17 35,439,605 (GRCm39) missense probably damaging 1.00
R9780:Nfkbil1 UTSW 17 35,439,898 (GRCm39) missense possibly damaging 0.94
Z1176:Nfkbil1 UTSW 17 35,453,938 (GRCm39) missense probably benign 0.38
Z1176:Nfkbil1 UTSW 17 35,453,937 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16