Incidental Mutation 'IGL02220:Nfkbil1'
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ID285105
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfkbil1
Ensembl Gene ENSMUSG00000042419
Gene Namenuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor like 1
SynonymsDef-7
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02220
Quality Score
Status
Chromosome17
Chromosomal Location35220175-35235792 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 35220746 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 264 (R264G)
Ref Sequence ENSEMBL: ENSMUSP00000035452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048994] [ENSMUST00000118793]
Predicted Effect possibly damaging
Transcript: ENSMUST00000048994
AA Change: R264G

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000035452
Gene: ENSMUSG00000042419
AA Change: R264G

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,711,172 D460G probably damaging Het
Ankrd9 T C 12: 110,977,499 M1V probably null Het
Anks1 T C 17: 28,054,707 I977T probably damaging Het
Bcar1 T C 8: 111,711,207 D767G possibly damaging Het
Bcl6 A T 16: 23,974,891 I102N probably damaging Het
Cacna2d2 G A 9: 107,514,879 G473D probably damaging Het
Cdh23 G T 10: 60,305,124 H3148Q probably damaging Het
Col6a4 A G 9: 106,062,942 V1263A possibly damaging Het
Crtc2 T C 3: 90,259,148 probably benign Het
D130043K22Rik G A 13: 24,883,755 G825S possibly damaging Het
Dera T A 6: 137,780,817 probably null Het
Dnah17 G T 11: 118,072,967 Y2506* probably null Het
Enam T A 5: 88,504,559 L1309* probably null Het
Fbxo15 G A 18: 84,964,192 probably null Het
Fgfbp1 T C 5: 43,979,486 K155E probably damaging Het
Foxj2 C T 6: 122,838,581 probably benign Het
Fuca1 A G 4: 135,939,219 probably benign Het
Gad1-ps T A 10: 99,445,322 noncoding transcript Het
H2-Eb2 C T 17: 34,325,687 probably benign Het
Insr A T 8: 3,159,578 F1168L probably damaging Het
Isx T A 8: 74,892,705 V175E possibly damaging Het
Kansl3 T C 1: 36,367,989 probably benign Het
Lin9 T C 1: 180,667,367 I218T probably damaging Het
Llgl2 C A 11: 115,845,379 A126D possibly damaging Het
Ltbp2 T C 12: 84,829,309 E488G possibly damaging Het
Maml3 A G 3: 51,690,218 V369A possibly damaging Het
Mthfsl A G 9: 88,715,655 I14T probably damaging Het
Myo3b A G 2: 70,289,579 probably benign Het
Olfr140 A G 2: 90,051,694 L210P probably damaging Het
Pde5a G T 3: 122,748,382 A174S probably benign Het
Plch1 A T 3: 63,698,961 I1173N probably damaging Het
Ppfia1 C A 7: 144,481,775 R1171L probably damaging Het
Prom1 T C 5: 44,014,789 D595G probably damaging Het
Ptprz1 T C 6: 23,042,743 probably benign Het
Samsn1 A G 16: 75,883,875 probably null Het
Sbno2 T A 10: 80,072,368 T66S probably benign Het
Serpina1c T A 12: 103,896,079 I326F probably damaging Het
Slc12a1 T C 2: 125,188,270 probably null Het
Slc18a2 A G 19: 59,276,556 E324G probably benign Het
Slc40a1 A T 1: 45,911,335 M319K probably damaging Het
Slc44a5 T C 3: 154,250,971 Y287H possibly damaging Het
Stx4a A G 7: 127,842,500 E63G possibly damaging Het
Sv2a T C 3: 96,190,716 F545S probably benign Het
Svop T C 5: 114,065,528 D65G probably benign Het
Tex30 A T 1: 44,087,022 S182R probably benign Het
Tmem121b T C 6: 120,492,337 D473G probably damaging Het
Tnfrsf19 C A 14: 60,973,492 probably benign Het
Tnrc6a T C 7: 123,170,456 S490P probably benign Het
Ubr4 A G 4: 139,388,435 T82A probably benign Het
Vps16 A G 2: 130,441,653 D589G possibly damaging Het
Zscan29 A C 2: 121,166,689 S184A probably damaging Het
Other mutations in Nfkbil1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02041:Nfkbil1 APN 17 35220958 missense probably benign 0.14
IGL02661:Nfkbil1 APN 17 35220671 missense probably benign
IGL03347:Nfkbil1 APN 17 35220583 missense probably damaging 0.99
R1630:Nfkbil1 UTSW 17 35221164 missense probably damaging 1.00
R3930:Nfkbil1 UTSW 17 35220956 missense probably benign 0.08
R4115:Nfkbil1 UTSW 17 35221310 missense probably damaging 1.00
R5152:Nfkbil1 UTSW 17 35221408 intron probably benign
R5995:Nfkbil1 UTSW 17 35220798 missense probably benign 0.26
Z1176:Nfkbil1 UTSW 17 35234961 missense probably damaging 1.00
Z1176:Nfkbil1 UTSW 17 35234962 missense probably benign 0.38
Posted On2015-04-16