Mutagenetix > Incidental Mutation

Incidental Mutation 'R9284:Rbpj'

703805

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53713121-53814787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 53810724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 448 (V448G)

Ref Sequence

ENSEMBL: ENSMUSP00000040694 (fasta)

Gene Model

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

AlphaFold

P31266

PDB Structure

CSL (RBP-Jk) bound to DNA [X-RAY DIFFRACTION]
CSL (RBP-Jk) bound to HES-1 nonconsensus site [X-RAY DIFFRACTION]
CSL (RBP-Jk) with corepressor KyoT2 bound to DNA [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000037618
AA Change: V448G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040694
Gene: ENSMUSG00000039191
AA Change: V448G

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 benign
Transcript: ENSMUST00000087360
AA Change: V407G

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000084618
Gene: ENSMUSG00000039191
AA Change: V407G

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: V409G

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109496
Gene: ENSMUSG00000039191
AA Change: V409G

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: V387G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143846
Gene: ENSMUSG00000039191
AA Change: V387G

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: V429G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143866
Gene: ENSMUSG00000039191
AA Change: V429G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (63/63)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	G	4: 144,504,191 (GRCm39)	Q320P	probably damaging	Het
Adamtsl2	G	A	2: 26,994,055 (GRCm39)		probably benign	Het
Adgrl3	T	A	5: 81,657,568 (GRCm39)		probably benign	Het
Angptl3	A	G	4: 98,919,480 (GRCm39)	Q80R	probably benign	Het
Atmin	G	A	8: 117,684,019 (GRCm39)	V560M	probably benign	Het
Bbx	A	G	16: 50,045,023 (GRCm39)	S513P	probably benign	Het
Cacng8	C	A	7: 3,459,746 (GRCm39)	Y112*	probably null	Het
Catsperg2	A	G	7: 29,405,006 (GRCm39)		probably null	Het
Ccdc12	A	C	9: 110,540,203 (GRCm39)	T131P	probably damaging	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Cep95	A	T	11: 106,704,624 (GRCm39)	H493L	probably benign	Het
Cntnap1	A	G	11: 101,068,137 (GRCm39)	T50A	probably benign	Het
Cyp3a16	T	A	5: 145,377,304 (GRCm39)	I428F	probably damaging	Het
Dnhd1	G	T	7: 105,301,091 (GRCm39)	L149F	probably damaging	Het
Dop1b	T	A	16: 93,557,196 (GRCm39)	V497E	probably damaging	Het
Erich3	A	T	3: 154,404,308 (GRCm39)	N55I		Het
Fbxw26	A	T	9: 109,550,962 (GRCm39)		probably benign	Het
Gm4841	A	G	18: 60,403,895 (GRCm39)	I66T	probably damaging	Het
Gp5	G	A	16: 30,127,094 (GRCm39)	L527F	probably damaging	Het
Gpatch2l	G	A	12: 86,290,883 (GRCm39)	G22D	probably benign	Het
Isg20l2	T	A	3: 87,838,991 (GRCm39)	D67E	probably benign	Het
Itgae	G	A	11: 73,012,752 (GRCm39)	V695I	probably benign	Het
Itpr2	A	T	6: 146,256,174 (GRCm39)	N1006K	probably benign	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Lama3	C	T	18: 12,583,541 (GRCm39)	Q710*	probably null	Het
Loxhd1	C	T	18: 77,501,826 (GRCm39)	A1715V	probably damaging	Het
Map3k20	C	T	2: 72,228,755 (GRCm39)	Q325*	probably null	Het
Med1	A	T	11: 98,046,366 (GRCm39)	S1477T	unknown	Het
Mr1	T	A	1: 155,013,274 (GRCm39)	H101L	probably benign	Het
Mtor	T	A	4: 148,543,537 (GRCm39)	S405T	probably benign	Het
Nme9	G	C	9: 99,338,321 (GRCm39)		probably null	Het
Nom1	T	A	5: 29,647,532 (GRCm39)	I589N	probably damaging	Het
Nr6a1	A	T	2: 38,638,890 (GRCm39)	D148E	probably damaging	Het
Nup160	T	C	2: 90,548,375 (GRCm39)	V1006A	possibly damaging	Het
Or2ag1b	A	T	7: 106,288,416 (GRCm39)	I174N	possibly damaging	Het
Or2aj4	A	G	16: 19,385,357 (GRCm39)	I92T	probably damaging	Het
Or4d10b	A	T	19: 12,036,273 (GRCm39)	L281Q	probably damaging	Het
Or5d37	T	A	2: 87,924,278 (GRCm39)	M1L	probably benign	Het
Or6c200-ps1	G	A	10: 128,869,821 (GRCm39)	P297S	probably damaging	Het
Phyhd1	G	T	2: 30,156,879 (GRCm39)	G7*	probably null	Het
Pla2g4e	T	C	2: 120,004,730 (GRCm39)		probably benign	Het
Ppfia3	A	G	7: 45,011,222 (GRCm39)	C3R	probably damaging	Het
Pramel1	T	C	4: 143,123,769 (GRCm39)	V148A	probably benign	Het
Ptpdc1	A	T	13: 48,740,167 (GRCm39)	D421E	probably benign	Het
Rapgef2	A	T	3: 79,000,010 (GRCm39)	D579E	probably damaging	Het
Rif1	T	C	2: 51,998,564 (GRCm39)	V1067A	probably benign	Het
Scfd1	A	T	12: 51,439,024 (GRCm39)	N162I	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sp110	A	T	1: 85,507,363 (GRCm39)		probably null	Het
Sparcl1	A	T	5: 104,236,345 (GRCm39)	C469*	probably null	Het
Srebf2	G	A	15: 82,066,357 (GRCm39)	R635Q	probably benign	Het
Stard7	T	G	2: 127,132,956 (GRCm39)	S250A	probably damaging	Het
Stxbp5l	A	C	16: 37,028,442 (GRCm39)	Y540*	probably null	Het
Tlr5	T	C	1: 182,801,377 (GRCm39)	V227A	probably benign	Het
Tmem132b	T	C	5: 125,864,711 (GRCm39)	I939T	possibly damaging	Het
Tnik	G	T	3: 28,593,570 (GRCm39)	S142I	unknown	Het
Trim6	A	G	7: 103,882,116 (GRCm39)	T482A	probably damaging	Het
Tssk5	A	G	15: 76,257,168 (GRCm39)	I238T	probably benign	Het
Ugt2b35	A	G	5: 87,156,140 (GRCm39)	T411A	probably benign	Het
Zc2hc1b	C	A	10: 13,043,562 (GRCm39)	R111L	probably benign	Het
Zfp266	A	T	9: 20,411,300 (GRCm39)	C292*	probably null	Het

Other mutations in Rbpj

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R6088:Rbpj	UTSW	5	53,808,710 (GRCm39)	splice site	probably null
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
R9290:Rbpj	UTSW	5	53,810,745 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGATAGAGCCTGTTCTGTCACC -3'
(R):5'- CACTGGTAGAATTTGTGCTGGC -3'

Sequencing Primer
(F):5'- TGTTCTGTCACCCAGGGG -3'
(R):5'- GCTGGCATTTGTGTAATTCCC -3'

Posted On

2022-03-25