Incidental Mutation 'R4115:Nfkbil1'
ID 314613
Institutional Source Beutler Lab
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
MMRRC Submission 041630-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4115 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 35439151-35454768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35440286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 129 (M129T)
Ref Sequence ENSEMBL: ENSMUSP00000035452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048994] [ENSMUST00000118793]
AlphaFold O88995
Predicted Effect probably damaging
Transcript: ENSMUST00000048994
AA Change: M129T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000035452
Gene: ENSMUSG00000042419
AA Change: M129T

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.3%
  • 20x: 95.3%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd34c A G 9: 89,611,927 (GRCm39) L138P probably damaging Het
Aplp2 C T 9: 31,069,122 (GRCm39) R569Q probably benign Het
BC035044 C T 6: 128,867,813 (GRCm39) probably benign Het
Camta2 T C 11: 70,567,300 (GRCm39) M626V possibly damaging Het
Cdh20 G A 1: 110,066,039 (GRCm39) R771Q probably benign Het
Chd3 T G 11: 69,248,343 (GRCm39) I850L possibly damaging Het
Cspg4 T A 9: 56,805,678 (GRCm39) L2163Q probably damaging Het
Cyp2c66 A G 19: 39,165,003 (GRCm39) D328G possibly damaging Het
Dcun1d3 T C 7: 119,458,957 (GRCm39) N26S probably benign Het
Dmxl2 A T 9: 54,354,272 (GRCm39) Y391* probably null Het
Gnl3 T G 14: 30,738,813 (GRCm39) K79Q probably damaging Het
Hat1 A G 2: 71,271,566 (GRCm39) T380A probably benign Het
Hectd1 A T 12: 51,815,506 (GRCm39) L1527* probably null Het
Ighv11-1 A G 12: 113,945,685 (GRCm39) V56A probably benign Het
Ism2 A G 12: 87,333,805 (GRCm39) I80T probably benign Het
Itpr2 C T 6: 146,327,008 (GRCm39) V120I probably damaging Het
Kif1a T A 1: 92,980,260 (GRCm39) E823V probably damaging Het
Letm2 T A 8: 26,070,343 (GRCm39) K432* probably null Het
LTO1 G A 7: 144,473,383 (GRCm39) V142M possibly damaging Het
Mc4r T A 18: 66,993,050 (GRCm39) Y21F probably benign Het
Morc3 G A 16: 93,670,227 (GRCm39) D801N probably benign Het
Mycbpap C A 11: 94,403,051 (GRCm39) probably null Het
Notch3 C A 17: 32,377,407 (GRCm39) C223F probably damaging Het
Nrcam T C 12: 44,613,109 (GRCm39) V606A possibly damaging Het
Nudcd2 T C 11: 40,627,434 (GRCm39) M118T probably damaging Het
Or1j13 A T 2: 36,369,797 (GRCm39) L115Q probably damaging Het
Pcsk5 C T 19: 17,410,783 (GRCm39) D1870N unknown Het
Pde3b T C 7: 114,120,962 (GRCm39) F696L probably damaging Het
Pde8a T A 7: 80,932,555 (GRCm39) probably null Het
Pgm1 C T 4: 99,819,348 (GRCm39) Q191* probably null Het
Pramel21 A G 4: 143,344,026 (GRCm39) D442G probably benign Het
Psg20 A G 7: 18,419,905 (GRCm39) S5P probably damaging Het
Reps1 C T 10: 17,979,955 (GRCm39) P397S possibly damaging Het
Sec22a A G 16: 35,139,202 (GRCm39) F232S probably damaging Het
Spata13 G T 14: 60,929,927 (GRCm39) G168V probably damaging Het
Spta1 T C 1: 174,067,923 (GRCm39) W2117R probably damaging Het
Sptbn4 C T 7: 27,090,995 (GRCm39) E1399K probably damaging Het
Tek T C 4: 94,737,920 (GRCm39) S657P probably damaging Het
Thoc2l T C 5: 104,667,299 (GRCm39) L607S probably damaging Het
Trpm6 T C 19: 18,809,921 (GRCm39) W1106R probably damaging Het
Tssk3 T C 4: 129,383,300 (GRCm39) Y124C probably damaging Het
Ugt2b1 A G 5: 87,074,273 (GRCm39) W29R probably damaging Het
Vmn2r97 T C 17: 19,148,332 (GRCm39) F76L 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
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
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
Predicted Primers PCR Primer
(F):5'- ATGGGCTCCTCACCTTCAAAC -3'
(R):5'- ACGCGGTTGTAACACTTAGAGC -3'

Sequencing Primer
(F):5'- AACCTCCCGATGACCTCCTG -3'
(R):5'- CGGTTGTAACACTTAGAGCAAACTG -3'
Posted On 2015-05-14