Incidental Mutation 'R5494:Rbpjl'
ID 432223
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 043055-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5494 (G1)
Quality Score 217
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: 98.3%
  • 3x: 97.4%
  • 10x: 95.3%
  • 20x: 91.3%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak9 A G 10: 41,223,165 (GRCm39) E436G probably damaging Het
Aldh18a1 C T 19: 40,539,734 (GRCm39) R747Q probably damaging Het
Apob A G 12: 8,061,762 (GRCm39) N3415D probably damaging Het
Asb18 T C 1: 89,882,121 (GRCm39) E139G probably damaging Het
Atrn T C 2: 130,864,995 (GRCm39) L1374P probably damaging Het
Ccdc81 A G 7: 89,526,781 (GRCm39) S410P probably damaging Het
Cep112 A G 11: 108,555,431 (GRCm39) E809G probably damaging Het
Dctn1 G T 6: 83,159,546 (GRCm39) R8L possibly damaging Het
Ddn C A 15: 98,704,884 (GRCm39) R82L probably damaging Het
Dgkz A T 2: 91,771,394 (GRCm39) probably null Het
Eif4a3l1 C G 6: 136,306,555 (GRCm39) R339G probably damaging Het
Frem1 T C 4: 82,858,990 (GRCm39) *415W probably null Het
Fry A T 5: 150,314,132 (GRCm39) D789V probably damaging Het
Fzr1 C T 10: 81,207,178 (GRCm39) probably null Het
Gemin5 T A 11: 58,021,526 (GRCm39) Y1025F probably damaging Het
Gjb5 C T 4: 127,249,347 (GRCm39) V266M probably damaging Het
Gli3 A T 13: 15,900,567 (GRCm39) Q1318L probably benign Het
Golgb1 T A 16: 36,749,045 (GRCm39) N3056K possibly damaging Het
Gucy1b1 T A 3: 81,947,183 (GRCm39) D342V probably damaging Het
H1f9 T C 11: 94,858,843 (GRCm39) L46S probably benign Het
Hc A T 2: 34,893,551 (GRCm39) probably null Het
Heg1 A G 16: 33,545,804 (GRCm39) D185G probably benign Het
Igf2r A T 17: 12,912,032 (GRCm39) M1865K possibly damaging Het
Il27 A G 7: 126,192,100 (GRCm39) L12P probably damaging Het
Krt1 C T 15: 101,759,149 (GRCm39) C5Y unknown Het
Med25 C T 7: 44,535,225 (GRCm39) V170M probably damaging Het
Mgat4a T A 1: 37,493,898 (GRCm39) Y316F probably damaging Het
Oas3 A G 5: 120,899,709 (GRCm39) V725A unknown Het
Or52ac1 C A 7: 104,245,932 (GRCm39) G152V probably damaging Het
Or5w16 T C 2: 87,576,950 (GRCm39) S137P probably damaging Het
Pcdhb17 T C 18: 37,620,300 (GRCm39) S697P probably damaging Het
Plch2 T C 4: 155,075,579 (GRCm39) Y751C probably damaging Het
Rbms2 G T 10: 127,973,560 (GRCm39) T252N probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Scfd1 A G 12: 51,443,522 (GRCm39) probably null Het
Shank3 C T 15: 89,432,441 (GRCm39) T1062M probably damaging Het
Slc28a1 G A 7: 80,817,787 (GRCm39) G552E probably damaging Het
Sntn A G 14: 13,682,214 (GRCm38) R96G probably benign Het
Tas2r102 T C 6: 132,740,106 (GRCm39) V338A probably benign Het
Trim62 A T 4: 128,778,999 (GRCm39) N145Y possibly damaging Het
Tspoap1 C T 11: 87,666,031 (GRCm39) T863I possibly damaging Het
Ubr5 C T 15: 38,019,525 (GRCm39) C739Y possibly damaging Het
Vps13c G A 9: 67,855,428 (GRCm39) V2498I probably benign Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging 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
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'- GGAGCTGCACGGAGAAAATTTC -3'
(R):5'- AACTCGTGGTGGATGCTCTC -3'

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