Incidental Mutation 'R5492:Rbpjl'
ID 432108
Institutional Source Beutler Lab
Gene Symbol Rbpjl
Ensembl Gene ENSMUSG00000017007
Gene Name recombination signal binding protein for immunoglobulin kappa J region-like
Synonyms Rbpsuhl, RBP-J kappa-like, RBP-L
MMRRC Submission 043053-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5492 (G1)
Quality Score 111
Status Not validated
Chromosome 2
Chromosomal Location 164245061-164257368 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) GCC to GC at 164256330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000017151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017151]
AlphaFold O08674
Predicted Effect probably null
Transcript: ENSMUST00000017151
SMART Domains Protein: ENSMUSP00000017151
Gene: ENSMUSG00000017007

DomainStartEndE-ValueType
LAG1_DNAbind 66 204 4.58e-78 SMART
BTD 205 357 1.23e-83 SMART
SCOP:d1a02n1 383 475 3e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000109356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137427
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.1%
  • 10x: 94.5%
  • 20x: 89.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signaling pathway transcription factor recombining binding protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene do not display any obvious phenotype abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik C T 1: 11,615,431 (GRCm39) R135C probably damaging Het
Abcd2 A G 15: 91,073,176 (GRCm39) Y328H probably benign Het
Abcg4 T C 9: 44,189,355 (GRCm39) T381A probably benign Het
Adamts12 A G 15: 11,336,384 (GRCm39) N1490D probably benign Het
Aldh18a1 C T 19: 40,539,734 (GRCm39) R747Q probably damaging Het
Armc8 G T 9: 99,409,184 (GRCm39) C169* probably null Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
Bsn G A 9: 107,989,714 (GRCm39) P2013S probably damaging Het
Cdc16 A G 8: 13,813,915 (GRCm39) probably null Het
Cmtr1 T A 17: 29,909,316 (GRCm39) F408L probably damaging Het
Col4a2 C T 8: 11,488,608 (GRCm39) R1104W possibly damaging Het
Drg2 A C 11: 60,352,422 (GRCm39) H208P probably damaging Het
Frem3 A T 8: 81,339,306 (GRCm39) D533V probably damaging Het
Gm9930 T A 10: 9,410,337 (GRCm39) noncoding transcript Het
Haus5 A G 7: 30,358,380 (GRCm39) V305A possibly damaging Het
Hint3 C A 10: 30,494,245 (GRCm39) R30L probably benign Het
Hltf T A 3: 20,152,231 (GRCm39) probably null Het
Hmcn2 T A 2: 31,310,318 (GRCm39) L3304Q probably benign Het
Hspa2 A G 12: 76,451,308 (GRCm39) M1V probably null Het
Htr5b T C 1: 121,455,387 (GRCm39) T178A possibly damaging Het
Ighv1-11 A G 12: 114,576,084 (GRCm39) S44P probably damaging Het
Larp1b C T 3: 40,924,334 (GRCm39) R104W probably damaging Het
Map3k2 A G 18: 32,361,189 (GRCm39) T550A probably damaging Het
Map4 T A 9: 109,881,450 (GRCm39) S105T possibly damaging Het
Mgam T C 6: 40,733,297 (GRCm39) C691R probably damaging Het
Mms19 A G 19: 41,944,270 (GRCm39) I310T possibly damaging Het
Myh2 A C 11: 67,071,701 (GRCm39) K506T probably benign Het
Ngdn T C 14: 55,260,509 (GRCm39) V239A probably benign Het
Plin1 G A 7: 79,375,460 (GRCm39) R151* probably null Het
Rdh16f2 G T 10: 127,702,623 (GRCm39) E67* probably null Het
Slc25a36 A C 9: 96,982,259 (GRCm39) C25W probably damaging Het
Stk31 G A 6: 49,375,177 (GRCm39) A49T probably damaging Het
Tigar T A 6: 127,066,167 (GRCm39) T124S possibly damaging Het
Tsn A G 1: 118,232,443 (GRCm39) V144A probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfp943 T A 17: 22,212,056 (GRCm39) C381S probably damaging Het
Zfyve19 A T 2: 119,039,595 (GRCm39) probably benign Het
Other mutations in Rbpjl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:Rbpjl APN 2 164,249,705 (GRCm39) missense possibly damaging 0.74
IGL02429:Rbpjl APN 2 164,255,815 (GRCm39) missense possibly damaging 0.80
R2155:Rbpjl UTSW 2 164,256,343 (GRCm39) missense possibly damaging 0.80
R2244:Rbpjl UTSW 2 164,245,137 (GRCm39) intron probably benign
R2344:Rbpjl UTSW 2 164,256,312 (GRCm39) missense probably damaging 0.99
R4721:Rbpjl UTSW 2 164,246,447 (GRCm39) missense probably benign 0.08
R5023:Rbpjl UTSW 2 164,252,209 (GRCm39) missense probably damaging 1.00
R5493:Rbpjl UTSW 2 164,256,330 (GRCm39) frame shift probably null
R5494:Rbpjl UTSW 2 164,256,330 (GRCm39) frame shift probably null
R5556:Rbpjl UTSW 2 164,249,982 (GRCm39) missense probably benign 0.01
R5796:Rbpjl UTSW 2 164,252,168 (GRCm39) splice site probably benign
R6164:Rbpjl UTSW 2 164,252,799 (GRCm39) missense probably damaging 1.00
R7609:Rbpjl UTSW 2 164,247,734 (GRCm39) missense probably benign 0.05
R8025:Rbpjl UTSW 2 164,252,166 (GRCm39) splice site probably benign
R8068:Rbpjl UTSW 2 164,250,438 (GRCm39) missense possibly damaging 0.93
R8251:Rbpjl UTSW 2 164,255,854 (GRCm39) missense probably damaging 0.99
R8928:Rbpjl UTSW 2 164,250,313 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTTCCACGCTGGGCTCAAG -3'
(R):5'- AAGTTGGTGCGTGTGAACTC -3'

Sequencing Primer
(F):5'- CTCAAGGTGTGGTTCGGAGAC -3'
(R):5'- AACTCGTGGTGGATGCTCTCC -3'
Posted On 2016-10-05