Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01895:Rbpj'

179371

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbpj

Ensembl Gene

ENSMUSG00000039191

Gene Name

recombination signal binding protein for immunoglobulin kappa J region

Synonyms

RBP-J kappa, CBF1, Igkjrb, RBPjk, Igkrsbp, Rbpsuh

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01895

Quality Score

Status

Chromosome

Chromosomal Location

53466152-53657362 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53651386 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 285 (D285G)

Ref Sequence

ENSEMBL: ENSMUSP00000143866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037618] [ENSMUST00000087360] [ENSMUST00000113865] [ENSMUST00000201883] [ENSMUST00000201912] [ENSMUST00000201991]

AlphaFold

P31266

Predicted Effect

probably damaging
Transcript: ENSMUST00000037618
AA Change: D304G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040694
Gene: ENSMUSG00000039191
AA Change: D304G

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000087360
AA Change: D263G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000084618
Gene: ENSMUSG00000039191
AA Change: D263G

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000113865
AA Change: D265G

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109496
Gene: ENSMUSG00000039191
AA Change: D265G

Domain	Start	End	E-Value	Type
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

probably damaging
Transcript: ENSMUST00000201883
AA Change: D243G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143846
Gene: ENSMUSG00000039191
AA Change: D243G

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000201912
AA Change: D285G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143866
Gene: ENSMUSG00000039191
AA Change: D285G

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000201991

SMART Domains

Protein: ENSMUSP00000144617
Gene: ENSMUSG00000039191

Domain	Start	End	E-Value	Type
LAG1_DNAbind	42	173	2.3e-90	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202092

Coding Region Coverage

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,229,107	V2279E	possibly damaging	Het
Abcc6	A	T	7: 46,029,058	I56N	possibly damaging	Het
Akr1c13	A	T	13: 4,205,373	E321V	possibly damaging	Het
Atp8b3	A	T	10: 80,521,828	V1119D	possibly damaging	Het
Cacna1e	G	T	1: 154,443,900	F1351L	probably damaging	Het
Cadps2	A	G	6: 23,427,275	W585R	probably damaging	Het
Ccdc113	C	T	8: 95,536,458		probably benign	Het
Ccer1	A	T	10: 97,694,050	I192F	unknown	Het
Chd8	T	C	14: 52,199,094	N90S	probably benign	Het
Clca3a1	A	T	3: 144,747,572	C463*	probably null	Het
Cyp2c65	T	A	19: 39,072,232	C179S	possibly damaging	Het
Dennd4b	A	G	3: 90,275,567	Q35R	probably benign	Het
Enpep	T	C	3: 129,270,334	E928G	possibly damaging	Het
Fem1c	T	C	18: 46,505,562	T458A	probably benign	Het
Fezf2	A	T	14: 12,342,498	*456R	probably null	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm14085	A	C	2: 122,525,091	Y588S	possibly damaging	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Iqcm	T	G	8: 75,888,560	L423R	probably damaging	Het
Kcnc4	C	A	3: 107,448,218	V305L	probably benign	Het
Kif1a	G	A	1: 93,025,733	T1337I	possibly damaging	Het
Lpxn	A	G	19: 12,833,086	D298G	probably damaging	Het
Lypd8	A	G	11: 58,390,220	T203A	possibly damaging	Het
Mrps28	C	T	3: 8,900,059	V107M	probably damaging	Het
Myo15b	A	G	11: 115,883,498	E586G	possibly damaging	Het
Pdzk1	C	T	3: 96,869,101	A459V	possibly damaging	Het
Rimbp3	T	C	16: 17,211,436	L908P	probably damaging	Het
Samd4b	T	C	7: 28,401,909		probably null	Het
Stau2	C	T	1: 16,345,937	G401S	probably damaging	Het
Trpa1	A	T	1: 14,887,643	I697K	possibly damaging	Het
Ttc17	A	C	2: 94,375,146	V285G	possibly damaging	Het
Unc5b	A	G	10: 60,767,085	F845S	probably damaging	Het
Vmn1r19	A	T	6: 57,405,260	Q266L	probably benign	Het
Vmn2r106	T	C	17: 20,278,965	N228S	probably benign	Het
Vps13d	A	G	4: 145,156,266	F919S	possibly damaging	Het
Zbtb38	C	T	9: 96,688,408	V208I	probably benign	Het
Zfp990	A	T	4: 145,536,857	T142S	probably damaging	Het
Zfp990	C	A	4: 145,536,858	T142N	probably damaging	Het

Other mutations in Rbpj

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02537:Rbpj	APN	5	53642143	missense	probably damaging	1.00
R0676:Rbpj	UTSW	5	53646048	splice site	probably benign
R2372:Rbpj	UTSW	5	53642195	splice site	probably benign
R3814:Rbpj	UTSW	5	53653172	nonsense	probably null
R4153:Rbpj	UTSW	5	53649447	missense	probably damaging	1.00
R5023:Rbpj	UTSW	5	53649415	missense	probably damaging	1.00
R5240:Rbpj	UTSW	5	53649440	missense	probably damaging	1.00
R5341:Rbpj	UTSW	5	53642083	missense	possibly damaging	0.71
R6088:Rbpj	UTSW	5	53651368	splice site	probably null
R6885:Rbpj	UTSW	5	53653151	missense	probably damaging	1.00
R7493:Rbpj	UTSW	5	53600934	missense	probably benign	0.19
R7653:Rbpj	UTSW	5	53590351	start codon destroyed	probably null
R7703:Rbpj	UTSW	5	53645898	missense	probably damaging	1.00
R7893:Rbpj	UTSW	5	53645874	missense	probably damaging	1.00
R8076:Rbpj	UTSW	5	53642137	missense	probably damaging	1.00
R9028:Rbpj	UTSW	5	53649690	missense	possibly damaging	0.95
R9284:Rbpj	UTSW	5	53653382	missense	probably damaging	0.97
R9290:Rbpj	UTSW	5	53653403	missense	probably damaging	1.00

Posted On

2014-05-07