Incidental Mutation 'R5995:Nfkbil1'
ID 481089
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 044174-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5995 (G1)
Quality Score 216.009
Status Validated
Chromosome 17
Chromosomal Location 35439151-35454768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 35439774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 246 (F246L)
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: F246L

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000035452
Gene: ENSMUSG00000042419
AA Change: F246L

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
Meta Mutation Damage Score 0.0649 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.7%
Validation Efficiency 100% (56/56)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Adgrb2 C A 4: 129,910,896 (GRCm39) A1104E probably damaging Het
Adgrv1 A G 13: 81,614,378 (GRCm39) V4005A probably benign Het
Bend6 T C 1: 33,917,520 (GRCm39) probably null Het
Brwd1 A T 16: 95,865,987 (GRCm39) V265E probably damaging Het
Ccdc96 A G 5: 36,643,718 (GRCm39) I575V probably damaging Het
Cd109 A T 9: 78,607,561 (GRCm39) I1094L probably benign Het
Cd44 A G 2: 102,692,015 (GRCm39) V91A probably damaging Het
Cdv3 C G 9: 103,241,202 (GRCm39) G122R probably damaging Het
Ces2c T A 8: 105,577,533 (GRCm39) V272D possibly damaging Het
Colgalt1 T A 8: 72,075,754 (GRCm39) M467K probably damaging Het
Crtam G A 9: 40,905,836 (GRCm39) T31M possibly damaging Het
Cyp7a1 C T 4: 6,272,371 (GRCm39) V281M possibly damaging Het
Dnah7a A T 1: 53,659,829 (GRCm39) N726K probably benign Het
Dok6 T C 18: 89,439,142 (GRCm39) E232G possibly damaging Het
Gm12185 T C 11: 48,806,540 (GRCm39) E217G probably benign Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Gria1 A T 11: 57,180,111 (GRCm39) Y618F probably damaging Het
H2-T22 A G 17: 36,352,377 (GRCm39) Y183H probably benign Het
Hace1 A T 10: 45,546,487 (GRCm39) I374L probably benign Het
Hif3a T A 7: 16,787,694 (GRCm39) T132S probably benign Het
Hoxa3 T A 6: 52,147,263 (GRCm39) probably benign Het
Il27 A C 7: 126,188,535 (GRCm39) probably benign Het
Klhdc1 T C 12: 69,297,548 (GRCm39) Y40H probably damaging Het
Klhl33 T G 14: 51,130,108 (GRCm39) E462A possibly damaging Het
Myh10 T C 11: 68,705,809 (GRCm39) I1979T probably benign Het
Nlrp1b A T 11: 71,072,572 (GRCm39) F424I probably damaging Het
Nod1 A G 6: 54,921,539 (GRCm39) Y260H probably damaging Het
Ofcc1 A G 13: 40,433,898 (GRCm39) L69P probably damaging Het
Onecut2 G T 18: 64,474,619 (GRCm39) R390L probably damaging Het
Oprm1 A C 10: 6,782,520 (GRCm39) M388L probably benign Het
Or10q3 A T 19: 11,848,226 (GRCm39) I118N possibly damaging Het
Or1e26 T C 11: 73,480,076 (GRCm39) I163V probably benign Het
Or1o3 C A 17: 37,574,539 (GRCm39) Q5H probably benign Het
Or5aq1 T C 2: 86,966,200 (GRCm39) N155S probably damaging Het
Or5b96 A C 19: 12,867,961 (GRCm39) probably null Het
Or8g53 A G 9: 39,683,988 (GRCm39) V36A probably benign Het
Pcdhgc5 T A 18: 37,954,113 (GRCm39) Y462* probably null Het
Pex1 T A 5: 3,657,704 (GRCm39) M425K possibly damaging Het
Plec A T 15: 76,070,105 (GRCm39) Y1001N probably damaging Het
Poglut3 T C 9: 53,307,195 (GRCm39) Y380H probably damaging Het
Pou2f2 T G 7: 24,796,869 (GRCm39) K236Q probably damaging Het
Rbm20 G A 19: 53,839,698 (GRCm39) E896K possibly damaging Het
Sh3tc2 T A 18: 62,123,081 (GRCm39) L614Q probably damaging Het
Skint5 T A 4: 113,751,029 (GRCm39) I339F unknown Het
Slc2a7 T C 4: 150,252,797 (GRCm39) I479T probably damaging Het
Snrk A G 9: 121,986,288 (GRCm39) N219S probably damaging Het
Supt20 T C 3: 54,616,474 (GRCm39) S245P probably damaging Het
Ttn A G 2: 76,591,636 (GRCm39) I21011T probably damaging Het
Vmn2r11 T A 5: 109,194,921 (GRCm39) I802F probably damaging Het
Vmn2r92 T C 17: 18,389,213 (GRCm39) probably null Het
Ythdc2 T A 18: 45,019,320 (GRCm39) M1363K probably damaging Het
Zan T C 5: 137,377,071 (GRCm39) probably benign Het
Zfp521 C A 18: 13,850,681 (GRCm39) C1261F probably damaging Het
Zfp980 A T 4: 145,428,479 (GRCm39) K403* probably null 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
R4115:Nfkbil1 UTSW 17 35,440,286 (GRCm39) missense probably damaging 1.00
R5152:Nfkbil1 UTSW 17 35,440,384 (GRCm39) intron probably benign
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'- AAGTACCTCTTCAGAGCCCC -3'
(R):5'- TGAACAGATGATGCCTCCCG -3'

Sequencing Primer
(F):5'- TGCAGCCATGGCCTCTG -3'
(R):5'- ATGATGCCTCCCGGGACAC -3'
Posted On 2017-06-26