Mutagenetix > Incidental Mutation

Incidental Mutation 'R9028:Rbpj'

686864

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

068857-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9028 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53713121-53814787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53807032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 260 (E260G)

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

possibly damaging
Transcript: ENSMUST00000037618
AA Change: E260G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040694
Gene: ENSMUSG00000039191
AA Change: E260G

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: E219G

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000084618
Gene: ENSMUSG00000039191
AA Change: E219G

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: E221G

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109496
Gene: ENSMUSG00000039191
AA Change: E221G

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

possibly damaging
Transcript: ENSMUST00000201883
AA Change: E199G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143846
Gene: ENSMUSG00000039191
AA Change: E199G

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

possibly damaging
Transcript: ENSMUST00000201912
AA Change: E241G

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143866
Gene: ENSMUSG00000039191
AA Change: E241G

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (74/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,023,977 (GRCm39)	V1066A	probably damaging	Het
Abca5	T	A	11: 110,188,904 (GRCm39)	H851L	probably damaging	Het
Actn2	T	C	13: 12,315,864 (GRCm39)	I218M	possibly damaging	Het
Afmid	G	A	11: 117,727,489 (GRCm39)	E338K	probably benign	Het
Amer3	G	A	1: 34,627,758 (GRCm39)	V666I	probably benign	Het
Apol7b	A	G	15: 77,307,616 (GRCm39)	V293A	probably damaging	Het
Bag6	T	A	17: 35,363,130 (GRCm39)	S657T	probably benign	Het
Btaf1	T	C	19: 36,946,508 (GRCm39)	L438P	probably damaging	Het
Cdc20	T	C	4: 118,293,757 (GRCm39)	E126G	probably benign	Het
Cep97	C	T	16: 55,739,915 (GRCm39)	W248*	probably null	Het
Cfap69	A	T	5: 5,696,958 (GRCm39)	S113T	probably benign	Het
Cgrrf1	C	A	14: 47,091,200 (GRCm39)	D241E	probably benign	Het
Cnksr1	T	C	4: 133,960,608 (GRCm39)	T280A	possibly damaging	Het
Cox4i1	T	A	8: 121,398,022 (GRCm39)		probably benign	Het
Cpm	T	A	10: 117,519,414 (GRCm39)	F441I	probably benign	Het
Cs	A	C	10: 128,188,952 (GRCm39)	M154L		Het
Dmrta1	T	A	4: 89,579,914 (GRCm39)	N291K	probably damaging	Het
Dnah7a	T	C	1: 53,560,297 (GRCm39)	T2125A	probably benign	Het
Dock10	A	T	1: 80,584,012 (GRCm39)		probably benign	Het
Dok7	A	G	5: 35,236,819 (GRCm39)	Y369C	probably damaging	Het
E130311K13Rik	T	C	3: 63,822,969 (GRCm39)	Y225C	probably damaging	Het
Elapor1	G	A	3: 108,370,819 (GRCm39)	T687I	probably benign	Het
F7	T	C	8: 13,076,087 (GRCm39)	L10P	possibly damaging	Het
Faf1	C	A	4: 109,748,105 (GRCm39)	T470K	possibly damaging	Het
Fam83h	A	T	15: 75,875,738 (GRCm39)	L533Q	possibly damaging	Het
Far1	T	A	7: 113,146,629 (GRCm39)	V129E	probably damaging	Het
Fgfr4	T	C	13: 55,306,967 (GRCm39)	Y219H	probably damaging	Het
Fryl	A	T	5: 73,255,609 (GRCm39)	S807R	probably benign	Het
Gaa	T	A	11: 119,161,207 (GRCm39)	D83E	probably benign	Het
Grm2	A	G	9: 106,528,384 (GRCm39)	S167P	possibly damaging	Het
H1f11-ps	T	C	19: 47,159,129 (GRCm39)	K149E	unknown	Het
Hibch	T	C	1: 52,892,868 (GRCm39)	L26P	possibly damaging	Het
Hspa9	T	C	18: 35,075,084 (GRCm39)	E415G	probably damaging	Het
Ipo4	T	C	14: 55,866,408 (GRCm39)	Y757C	probably damaging	Het
Itk	T	A	11: 46,235,710 (GRCm39)		probably benign	Het
Kdm5a	C	T	6: 120,416,092 (GRCm39)	P1671S	probably benign	Het
Kif13a	G	A	13: 46,951,841 (GRCm39)	P811S	probably damaging	Het
Kif23	T	C	9: 61,828,341 (GRCm39)	E857G	probably damaging	Het
Kif2b	A	G	11: 91,468,011 (GRCm39)	S91P	probably benign	Het
Letm1	G	T	5: 33,909,847 (GRCm39)	Q396K	probably damaging	Het
Map2k6	T	A	11: 110,388,799 (GRCm39)	M247K		Het
Mga	A	G	2: 119,778,070 (GRCm39)	I1872V	probably benign	Het
Mmp15	A	T	8: 96,096,316 (GRCm39)	N369I	probably benign	Het
Myo3a	T	A	2: 22,490,099 (GRCm39)	S1487T	possibly damaging	Het
Ncam1	T	C	9: 49,418,736 (GRCm39)	T855A		Het
Ncoa2	A	G	1: 13,223,079 (GRCm39)	V1182A	probably benign	Het
Nhlrc3	A	T	3: 53,360,992 (GRCm39)	C254*	probably null	Het
Nlrp1a	C	T	11: 71,013,819 (GRCm39)	R477H	probably benign	Het
Nox3	T	A	17: 3,716,185 (GRCm39)	T407S	possibly damaging	Het
Or1x6	C	T	11: 50,939,660 (GRCm39)	T242M	probably damaging	Het
Or3a1d	T	C	11: 74,237,747 (GRCm39)	Y101C	probably damaging	Het
Or4c15b	T	A	2: 89,112,676 (GRCm39)	D267V	probably damaging	Het
Pfkp	T	A	13: 6,655,725 (GRCm39)	I303F	probably damaging	Het
Pgc	T	C	17: 48,043,983 (GRCm39)	Y292H	possibly damaging	Het
Phtf2	A	G	5: 20,999,373 (GRCm39)	Y257H	probably benign	Het
Pkdrej	T	C	15: 85,701,098 (GRCm39)	N1613D	probably damaging	Het
Prb1b	C	T	6: 132,289,618 (GRCm39)	E69K	unknown	Het
Rapgef2	A	G	3: 78,981,651 (GRCm39)	S1115P	probably damaging	Het
Rrm1	T	A	7: 102,109,605 (GRCm39)	N476K	probably damaging	Het
Slc9a2	T	A	1: 40,765,612 (GRCm39)	I334N	probably damaging	Het
Slk	T	G	19: 47,608,512 (GRCm39)	N488K	probably benign	Het
Smarca5	T	C	8: 81,440,642 (GRCm39)	I607M	probably damaging	Het
Sspo	G	A	6: 48,473,087 (GRCm39)	V162M	probably benign	Het
Svep1	T	G	4: 58,145,199 (GRCm39)	Q422P	possibly damaging	Het
Tcn2	C	T	11: 3,872,111 (GRCm39)	V339I	probably damaging	Het
Tnfrsf19	T	C	14: 61,242,650 (GRCm39)	H78R	probably benign	Het
Trav14-3	C	A	14: 54,000,887 (GRCm39)	Q33K	unknown	Het
Ubtd2	T	C	11: 32,449,432 (GRCm39)	I93T	possibly damaging	Het
Uhrf2	G	A	19: 30,066,744 (GRCm39)		probably null	Het
Vmn1r224	T	G	17: 20,640,112 (GRCm39)	S230A	possibly damaging	Het
Wee2	A	T	6: 40,421,189 (GRCm39)	H93L	probably benign	Het
Zdhhc17	T	C	10: 110,796,934 (GRCm39)	E279G	probably damaging	Het
Zfp623	T	A	15: 75,819,349 (GRCm39)	F102I	probably damaging	Het
Zfpm2	A	C	15: 40,966,758 (GRCm39)	E1081A	possibly damaging	Het
Zscan18	A	T	7: 12,506,116 (GRCm39)		probably benign	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
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'- GGGGAGCATTTTACATCCATCTC -3'
(R):5'- AAGAGGGACATTGCATTTTCAC -3'

Sequencing Primer
(F):5'- GAGCATTTTACATCCATCTCTGTGAG -3'
(R):5'- AGCAGAGTCAAGTCTTACC -3'

Posted On

2021-11-19