Incidental Mutation 'IGL02041:Nfkbil1'
ID 184768
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 # IGL02041
Quality Score
Status
Chromosome 17
Chromosomal Location 35439151-35454768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 35439934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 193 (T193M)
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: T193M

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000035452
Gene: ENSMUSG00000042419
AA Change: T193M

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,772,674 (GRCm39) Q28L probably damaging Het
Abtb3 G A 10: 85,223,418 (GRCm39) D76N unknown Het
Afg1l A G 10: 42,330,376 (GRCm39) V97A probably damaging Het
Akap6 A C 12: 53,187,436 (GRCm39) S1617R probably damaging Het
Aldh1a3 T C 7: 66,057,579 (GRCm39) N285D probably damaging Het
Arhgap20 A T 9: 51,757,490 (GRCm39) N494I possibly damaging Het
Atg9a G T 1: 75,159,748 (GRCm39) Q712K possibly damaging Het
Cdcp2 G A 4: 106,964,386 (GRCm39) probably benign Het
Cds2 T A 2: 132,136,363 (GRCm39) I84N possibly damaging Het
Clcn3 T C 8: 61,376,187 (GRCm39) I596V probably damaging Het
Ctxn1 A G 8: 4,308,514 (GRCm39) L39P probably damaging Het
Efhb A T 17: 53,733,287 (GRCm39) V528D probably damaging Het
Fmod T G 1: 133,968,001 (GRCm39) S14A probably benign Het
Foxh1 A G 15: 76,553,120 (GRCm39) F198S probably damaging Het
Gcc2 A G 10: 58,105,103 (GRCm39) E77G probably damaging Het
Gm5420 G T 10: 21,566,933 (GRCm39) noncoding transcript Het
Gm6434 T G 7: 25,581,655 (GRCm39) noncoding transcript Het
Il1b A T 2: 129,211,662 (GRCm39) N19K possibly damaging Het
Lama2 T A 10: 26,860,322 (GRCm39) D3055V probably damaging Het
Lcn3 G A 2: 25,655,636 (GRCm39) V18I probably benign Het
Lpcat2 A G 8: 93,644,809 (GRCm39) S533G probably benign Het
Map4k2 G A 19: 6,401,348 (GRCm39) R606Q probably benign Het
Mtnr1b T C 9: 15,774,589 (GRCm39) T157A probably benign Het
Myo15a G A 11: 60,397,689 (GRCm39) E2705K probably damaging Het
Ncf2 A G 1: 152,711,871 (GRCm39) probably benign Het
Nmi T G 2: 51,850,641 (GRCm39) K9T possibly damaging Het
Or2d4 T C 7: 106,543,320 (GRCm39) D296G possibly damaging Het
Or5p69 T C 7: 107,966,742 (GRCm39) F15S probably damaging Het
Or6c6c A G 10: 129,541,104 (GRCm39) D119G probably damaging Het
Osbpl7 T A 11: 96,951,334 (GRCm39) C502S probably benign Het
Pex5 A T 6: 124,382,240 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,356,452 (GRCm39) probably null Het
Prmt3 C T 7: 49,478,711 (GRCm39) T424M possibly damaging Het
Rapgef4 G A 2: 72,029,140 (GRCm39) G404D probably damaging Het
Rbm5 C T 9: 107,633,045 (GRCm39) probably benign Het
Rfc2 T A 5: 134,623,098 (GRCm39) F238L probably benign Het
Rsl1 A G 13: 67,324,612 (GRCm39) E46G probably damaging Het
Sall1 A G 8: 89,758,097 (GRCm39) F669S probably damaging Het
Sipa1l2 A G 8: 126,218,558 (GRCm39) S260P probably benign Het
Slc26a8 A G 17: 28,861,225 (GRCm39) Y820H probably damaging Het
Tas2r115 A G 6: 132,714,430 (GRCm39) F174L probably benign Het
Terb1 A C 8: 105,221,746 (GRCm39) C185G probably damaging Het
Vmn2r108 A T 17: 20,683,398 (GRCm39) V602E probably damaging Het
Vmn2r58 T A 7: 41,514,703 (GRCm39) I89F probably damaging Het
Vps13b G T 15: 35,423,391 (GRCm39) R237L probably damaging Het
Zfp865 T C 7: 5,034,372 (GRCm39) S786P probably benign Het
Other mutations in Nfkbil1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02220:Nfkbil1 APN 17 35,439,722 (GRCm39) missense possibly damaging 0.63
IGL02661:Nfkbil1 APN 17 35,439,647 (GRCm39) missense probably benign
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 2014-05-07