Incidental Mutation 'R6088:Rbpj'
ID 486085
Institutional Source Beutler Lab
Gene Symbol Rbpj
Ensembl Gene ENSMUSG00000039191
Gene Name recombination signal binding protein for immunoglobulin kappa J region
Synonyms Igkrsbp, RBPjk, Igkjrb, RBP-J kappa, Rbpsuh, CBF1
MMRRC Submission 044245-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6088 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 53713121-53814787 bp(+) (GRCm39)
Type of Mutation splice site (1978 bp from exon)
DNA Base Change (assembly) C to T at 53808710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037618] [ENSMUST00000087360] [ENSMUST00000113865] [ENSMUST00000201883] [ENSMUST00000201912] [ENSMUST00000201991]
AlphaFold P31266
Predicted Effect possibly damaging
Transcript: ENSMUST00000037618
AA Change: A298V

PolyPhen 2 Score 0.537 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000040694
Gene: ENSMUSG00000039191
AA Change: A298V

DomainStartEndE-ValueType
LAG1_DNAbind 73 204 2.97e-86 SMART
BTD 205 354 8.01e-92 SMART
SCOP:d1a02n1 380 472 8e-29 SMART
low complexity region 508 526 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000087360
AA Change: A257V

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000084618
Gene: ENSMUSG00000039191
AA Change: A257V

DomainStartEndE-ValueType
LAG1_DNAbind 32 163 2.97e-86 SMART
BTD 164 313 8.01e-92 SMART
Pfam:TIG 340 429 3.6e-9 PFAM
low complexity region 467 485 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113865
AA Change: A259V

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109496
Gene: ENSMUSG00000039191
AA Change: A259V

DomainStartEndE-ValueType
LAG1_DNAbind 34 165 2.97e-86 SMART
BTD 166 315 8.01e-92 SMART
Pfam:TIG 342 431 6.1e-9 PFAM
low complexity region 469 487 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000201883
AA Change: A237V

PolyPhen 2 Score 0.537 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143846
Gene: ENSMUSG00000039191
AA Change: A237V

DomainStartEndE-ValueType
LAG1_DNAbind 12 143 2.3e-90 SMART
BTD 144 293 6e-96 SMART
SCOP:d1a02n1 319 411 4e-29 SMART
low complexity region 447 465 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201912
AA Change: A279V

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143866
Gene: ENSMUSG00000039191
AA Change: A279V

DomainStartEndE-ValueType
LAG1_DNAbind 54 185 2.97e-86 SMART
BTD 186 335 8.01e-92 SMART
SCOP:d1a02n1 361 453 6e-29 SMART
low complexity region 489 507 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000201991
SMART Domains Protein: ENSMUSP00000144617
Gene: ENSMUSG00000039191

DomainStartEndE-ValueType
LAG1_DNAbind 42 173 2.3e-90 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202092
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.9%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit complete prenatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 G T 18: 59,035,174 (GRCm39) V360F probably damaging Het
Ankrd17 C T 5: 90,401,547 (GRCm39) E1605K possibly damaging Het
Arid4a A G 12: 71,069,010 (GRCm39) D54G probably damaging Het
Baz2a TCTCCTC TCTC 10: 127,950,511 (GRCm39) probably benign Het
Bltp3a G A 17: 28,103,579 (GRCm39) probably null Het
Card6 A T 15: 5,134,501 (GRCm39) V234E possibly damaging Het
Cd1d1 G T 3: 86,906,009 (GRCm39) Q89K probably benign Het
Ciita G A 16: 10,329,795 (GRCm39) R693K probably damaging Het
Cox7a2l G T 17: 83,811,401 (GRCm39) L77I probably benign Het
Crybg2 A T 4: 133,803,101 (GRCm39) probably null Het
Cts8 T C 13: 61,401,780 (GRCm39) N39S probably benign Het
Def8 G T 8: 124,186,787 (GRCm39) E456* probably null Het
Dld A G 12: 31,390,988 (GRCm39) F153L probably benign Het
Elf1 C T 14: 79,804,701 (GRCm39) T122I probably benign Het
Emilin2 T C 17: 71,562,119 (GRCm39) N961S probably benign Het
Esp24 A G 17: 39,350,901 (GRCm39) I34V probably benign Het
Fam184b C A 5: 45,741,354 (GRCm39) K292N probably damaging Het
Gabrg3 T A 7: 56,634,826 (GRCm39) N119I probably damaging Het
Gucy1b1 T C 3: 81,942,187 (GRCm39) H524R probably damaging Het
Kcp A T 6: 29,502,631 (GRCm39) S205T probably benign Het
Klb C T 5: 65,506,356 (GRCm39) T201M probably benign Het
Lamp3 A T 16: 19,492,148 (GRCm39) F365L probably damaging Het
Mad1l1 T A 5: 140,179,718 (GRCm39) H390L probably benign Het
Mlxipl T C 5: 135,162,884 (GRCm39) Y711H possibly damaging Het
Myo5b T A 18: 74,853,969 (GRCm39) L1196Q possibly damaging Het
Ndufb8 A G 19: 44,543,464 (GRCm39) S70P probably benign Het
Neb T C 2: 52,099,354 (GRCm39) D4832G probably damaging Het
Niban2 T C 2: 32,813,135 (GRCm39) V540A probably damaging Het
Nr5a1 T C 2: 38,592,007 (GRCm39) D322G probably benign Het
Or1e1d-ps1 A T 11: 73,819,649 (GRCm39) T273S probably benign Het
Or5ak20 T A 2: 85,183,698 (GRCm39) S191C probably damaging Het
Oscar G A 7: 3,614,311 (GRCm39) P143S probably benign Het
Oxa1l T A 14: 54,605,151 (GRCm39) probably null Het
Pafah2 A G 4: 134,140,692 (GRCm39) I221V probably benign Het
Pibf1 T A 14: 99,416,794 (GRCm39) F456I probably benign Het
Pla2g4d C T 2: 120,100,487 (GRCm39) G615D probably damaging Het
Plekhg2 C T 7: 28,060,438 (GRCm39) V964I probably benign Het
Ppip5k1 C A 2: 121,167,944 (GRCm39) V770L probably benign Het
Ppl A T 16: 4,922,852 (GRCm39) L213Q possibly damaging Het
Ptprf G A 4: 118,067,952 (GRCm39) T1785I possibly damaging Het
Pycr2 G A 1: 180,733,801 (GRCm39) G131E probably damaging Het
Rcc1 G T 4: 132,060,153 (GRCm39) D430E probably benign Het
Rhbdf1 A G 11: 32,162,007 (GRCm39) V525A possibly damaging Het
Samd7 G A 3: 30,810,632 (GRCm39) M216I probably benign Het
Ska3 A T 14: 58,054,151 (GRCm39) D266E probably benign Het
Slc1a7 G A 4: 107,869,641 (GRCm39) V569M probably damaging Het
Slc26a1 C T 5: 108,821,872 (GRCm39) E6K possibly damaging Het
Slc4a4 T A 5: 89,345,563 (GRCm39) V741E probably benign Het
St6galnac3 C T 3: 152,912,352 (GRCm39) G164S probably damaging Het
Tgs1 T A 4: 3,595,383 (GRCm39) N517K probably benign Het
Tns4 A G 11: 98,964,546 (GRCm39) S522P probably damaging Het
Trpm1 A T 7: 63,917,724 (GRCm39) M355L probably damaging Het
Trpm8 G A 1: 88,234,400 (GRCm39) probably benign Het
V1ra8 T C 6: 90,180,082 (GRCm39) F95S probably damaging Het
Zfp521 A C 18: 13,979,166 (GRCm39) S416A possibly damaging Het
Zfp574 T A 7: 24,779,764 (GRCm39) V262E probably benign Het
Zfp740 T A 15: 102,117,243 (GRCm39) I77N probably damaging Het
Zscan18 A T 7: 12,509,125 (GRCm39) probably benign Het
Other mutations in Rbpj
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01895:Rbpj APN 5 53,808,728 (GRCm39) missense probably damaging 1.00
IGL02537:Rbpj APN 5 53,799,485 (GRCm39) missense probably damaging 1.00
R0676:Rbpj UTSW 5 53,803,390 (GRCm39) splice site probably benign
R2372:Rbpj UTSW 5 53,799,537 (GRCm39) splice site probably benign
R3814:Rbpj UTSW 5 53,810,514 (GRCm39) nonsense probably null
R4153:Rbpj UTSW 5 53,806,789 (GRCm39) missense probably damaging 1.00
R5023:Rbpj UTSW 5 53,806,757 (GRCm39) missense probably damaging 1.00
R5240:Rbpj UTSW 5 53,806,782 (GRCm39) missense probably damaging 1.00
R5341:Rbpj UTSW 5 53,799,425 (GRCm39) missense possibly damaging 0.71
R6885:Rbpj UTSW 5 53,810,493 (GRCm39) missense probably damaging 1.00
R7493:Rbpj UTSW 5 53,758,276 (GRCm39) missense probably benign 0.19
R7653:Rbpj UTSW 5 53,747,693 (GRCm39) start codon destroyed probably null
R7703:Rbpj UTSW 5 53,803,240 (GRCm39) missense probably damaging 1.00
R7893:Rbpj UTSW 5 53,803,216 (GRCm39) missense probably damaging 1.00
R8076:Rbpj UTSW 5 53,799,479 (GRCm39) missense probably damaging 1.00
R9028:Rbpj UTSW 5 53,807,032 (GRCm39) missense possibly damaging 0.95
R9284:Rbpj UTSW 5 53,810,724 (GRCm39) missense probably damaging 0.97
R9290:Rbpj UTSW 5 53,810,745 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGATCGTCAGAACCTGCC -3'
(R):5'- ACTGTGCAATGCTGTGGAC -3'

Sequencing Primer
(F):5'- GCCTCAAGCAAATCATGGTG -3'
(R):5'- ACGGGACAGAGGCCATTCAC -3'
Posted On 2017-08-16