Incidental Mutation 'R2244:Rbpjl'
ID 240596
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 040244-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2244 (G1)
Quality Score 149
Status Not validated
Chromosome 2
Chromosomal Location 164245061-164257368 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to T at 164245137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017151] [ENSMUST00000103103] [ENSMUST00000103104] [ENSMUST00000109358] [ENSMUST00000109359]
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 probably benign
Transcript: ENSMUST00000103103
SMART Domains Protein: ENSMUSP00000099392
Gene: ENSMUSG00000016995

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWA 34 209 8.6e-54 SMART
EGF 220 257 1.04e-3 SMART
EGF 261 298 3.43e-4 SMART
EGF 302 339 1.85e0 SMART
EGF 343 380 1.24e-1 SMART
VWA 386 564 6.72e-56 SMART
Matrilin_ccoil 574 621 2.39e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103104
SMART Domains Protein: ENSMUSP00000099393
Gene: ENSMUSG00000016995

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWA 34 209 8.6e-54 SMART
EGF 220 257 1.04e-3 SMART
EGF 261 298 3.43e-4 SMART
EGF 302 339 1.85e0 SMART
EGF 343 380 1.24e-1 SMART
VWA 386 564 6.72e-56 SMART
Matrilin_ccoil 574 621 2.39e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000109356
Predicted Effect probably benign
Transcript: ENSMUST00000109358
SMART Domains Protein: ENSMUSP00000104982
Gene: ENSMUSG00000016995

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWA 34 209 8.6e-54 SMART
EGF 220 257 1.85e0 SMART
EGF 261 298 1.24e-1 SMART
VWA 304 482 6.72e-56 SMART
Matrilin_ccoil 492 539 2.39e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109359
SMART Domains Protein: ENSMUSP00000104983
Gene: ENSMUSG00000016995

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWA 34 209 8.6e-54 SMART
EGF 220 257 3.43e-4 SMART
EGF 261 298 1.85e0 SMART
EGF 302 339 1.24e-1 SMART
VWA 345 523 6.72e-56 SMART
Matrilin_ccoil 533 580 2.39e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154940
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 A G 7: 132,484,940 (GRCm39) T328A probably benign Het
Aen T C 7: 78,557,045 (GRCm39) Y156H probably damaging Het
Aip T C 19: 4,164,796 (GRCm39) D263G probably benign Het
Car1 T A 3: 14,835,912 (GRCm39) I70F possibly damaging Het
Cc2d2a T A 5: 43,889,775 (GRCm39) F1357Y probably damaging Het
Cit A G 5: 116,064,564 (GRCm39) E482G probably damaging Het
Dennd4c C T 4: 86,692,780 (GRCm39) P97S probably damaging Het
Fbxw24 T C 9: 109,434,117 (GRCm39) T398A possibly damaging Het
Fpr3 T C 17: 18,191,449 (GRCm39) F240S probably benign Het
Herc6 A T 6: 57,575,602 (GRCm39) R208* probably null Het
Itsn1 A G 16: 91,650,659 (GRCm39) N928S probably null Het
Ly75 T C 2: 60,180,257 (GRCm39) D640G probably benign Het
Mfsd4a T A 1: 131,956,243 (GRCm39) E507V probably benign Het
Nyap1 T C 5: 137,733,576 (GRCm39) T486A probably damaging Het
Or11g2 G A 14: 50,856,114 (GRCm39) C145Y probably damaging Het
Pgam2 T C 11: 5,751,723 (GRCm39) T238A probably benign Het
Pgm2 A G 5: 64,264,045 (GRCm39) D343G probably benign Het
Rhobtb2 CGAGGAGGAGGAGGAGG CGAGGAGGAGGAGG 14: 70,024,976 (GRCm39) probably benign Het
Selp G T 1: 163,964,855 (GRCm39) E506* probably null Het
Sgo2a T C 1: 58,056,213 (GRCm39) I799T probably benign Het
Slc45a2 A G 15: 11,003,087 (GRCm39) T187A probably benign Het
Tenm2 A T 11: 36,755,689 (GRCm39) L103H probably damaging Het
Thbs2 A G 17: 14,891,675 (GRCm39) I954T probably damaging Het
Usp20 T C 2: 30,900,343 (GRCm39) S286P possibly 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
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
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'- TGGAGTCCTGCACAAGACAC -3'
(R):5'- CATTTTCCATCCGTACAGTGTGTG -3'

Sequencing Primer
(F):5'- AAGACACGCCTCGGTGTCTG -3'
(R):5'- CCATCCGTACAGTGTGTGTGTTC -3'
Posted On 2014-10-15