Incidental Mutation 'R5796:Rbpjl'
ID 447211
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 043387-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5796 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 164245061-164257368 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 164252168 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 benign
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 93% (51/55)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,215,077 (GRCm39) T9A possibly damaging Het
Abcd3 G A 3: 121,578,147 (GRCm39) R160W probably damaging Het
Ap3d1 G T 10: 80,549,871 (GRCm39) T758K possibly damaging Het
Ate1 T C 7: 130,068,998 (GRCm39) Y423C probably damaging Het
Bsn C T 9: 108,003,223 (GRCm39) G394D probably damaging Het
Cacna1d T C 14: 29,788,073 (GRCm39) D1599G probably damaging Het
Cd33 A G 7: 43,182,480 (GRCm39) probably null Het
Chct1 A G 11: 85,064,101 (GRCm39) T81A probably null Het
Col12a1 T C 9: 79,611,111 (GRCm39) N154D possibly damaging Het
Crocc TCTGAGCTGCTGAGCTGC TCTGAGCTGC 4: 140,769,118 (GRCm39) probably null Het
Cts3 A T 13: 61,716,517 (GRCm39) Y40N probably damaging Het
Cyfip2 T C 11: 46,089,823 (GRCm39) N1197D probably benign Het
Dclre1b G A 3: 103,714,773 (GRCm39) Q77* probably null Het
Dsc3 T A 18: 20,104,558 (GRCm39) M590L probably benign Het
Efcab14 A T 4: 115,603,780 (GRCm39) I153F probably damaging Het
Fbxo42 T C 4: 140,927,100 (GRCm39) V460A probably benign Het
Fgl1 T G 8: 41,652,796 (GRCm39) probably benign Het
Gbf1 T C 19: 46,272,782 (GRCm39) S1697P probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm15056 C A 8: 21,391,998 (GRCm39) probably benign Het
Gm17409 T A 2: 58,361,034 (GRCm39) probably benign Het
Gm20730 A G 6: 43,058,464 (GRCm39) L116P probably damaging Het
Grb2 T G 11: 115,536,698 (GRCm39) H184P probably benign Het
Hepacam2 G C 6: 3,466,200 (GRCm39) probably null Het
Hsd3b9 A T 3: 98,354,168 (GRCm39) D110E probably benign Het
Igkv4-55 T A 6: 69,584,432 (GRCm39) K60M possibly damaging Het
Itfg1 T A 8: 86,445,522 (GRCm39) H603L probably damaging Het
Katna1 C A 10: 7,636,575 (GRCm39) D366E probably damaging Het
Klk1b26 A G 7: 43,665,752 (GRCm39) Y188C probably damaging Het
Ldhd T C 8: 112,353,722 (GRCm39) T464A probably benign Het
Muc5b T C 7: 141,411,133 (GRCm39) S1360P unknown Het
Nckipsd T G 9: 108,688,813 (GRCm39) V116G probably benign Het
Nhsl1 C T 10: 18,399,998 (GRCm39) S374L probably benign Het
Oxt G A 2: 130,418,533 (GRCm39) G48D probably damaging Het
Pramel21 A G 4: 143,341,778 (GRCm39) N69S probably benign Het
Ptprk C T 10: 28,259,571 (GRCm39) T337I probably damaging Het
Rad54b A T 4: 11,615,446 (GRCm39) D818V probably benign Het
Recql5 T A 11: 115,818,691 (GRCm39) probably benign Het
Robo4 A T 9: 37,322,970 (GRCm39) D830V probably benign Het
Rps6kb1 C T 11: 86,402,677 (GRCm39) G339S probably benign Het
Rtel1 G A 2: 180,982,299 (GRCm39) E350K probably benign Het
Rtn3 A G 19: 7,434,832 (GRCm39) S368P possibly damaging Het
Smad5 A G 13: 56,871,645 (GRCm39) H80R probably damaging Het
Sppl2c T A 11: 104,078,619 (GRCm39) M473K probably benign Het
Tbrg1 A G 9: 37,563,871 (GRCm39) probably benign Het
Tcf7 A G 11: 52,152,354 (GRCm39) I65T probably benign Het
Tgm2 T C 2: 157,960,824 (GRCm39) D618G probably benign Het
Tuba3b C T 6: 145,565,408 (GRCm39) T292I probably damaging Het
Vmn1r63 G A 7: 5,806,140 (GRCm39) S164L probably benign Het
Zfp382 A G 7: 29,832,774 (GRCm39) K142E probably damaging Het
Zmym3 G A X: 100,459,406 (GRCm39) P308L 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
R5492:Rbpjl UTSW 2 164,256,330 (GRCm39) frame shift probably null
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
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'- CCAGCTCACATCACTGAAGG -3'
(R):5'- TTAACTATGCTAACACACGGAGC -3'

Sequencing Primer
(F):5'- GCTCACATCACTGAAGGATGTTC -3'
(R):5'- TAACACACGGAGCACCCAG -3'
Posted On 2016-12-15