Mutagenetix > Incidental Mutation

Incidental Mutation 'R5341:Rbpj'

422315

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

042920-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5341 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53713121-53814787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53799425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 80 (E80G)

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: E111G

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000040694
Gene: ENSMUSG00000039191
AA Change: E111G

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

possibly damaging
Transcript: ENSMUST00000087360
AA Change: E70G

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000084618
Gene: ENSMUSG00000039191
AA Change: E70G

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: E72G

PolyPhen 2 Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109496
Gene: ENSMUSG00000039191
AA Change: E72G

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

noncoding transcript
Transcript: ENSMUST00000200856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201701

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201883
AA Change: E50G

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143846
Gene: ENSMUSG00000039191
AA Change: E50G

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: E92G

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143866
Gene: ENSMUSG00000039191
AA Change: E92G

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

noncoding transcript
Transcript: ENSMUST00000201928

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201991
AA Change: E80G

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144617
Gene: ENSMUSG00000039191
AA Change: E80G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202092

Meta Mutation Damage Score

0.1170

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

97% (64/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	A	G	10: 85,223,236 (GRCm39)	D15G	unknown	Het
Actr5	C	A	2: 158,467,144 (GRCm39)	S28*	probably null	Het
Adcy1	A	C	11: 7,080,375 (GRCm39)	M373L	probably damaging	Het
Adcyap1r1	C	G	6: 55,455,054 (GRCm39)	F111L	probably benign	Het
Arid5b	A	T	10: 68,113,957 (GRCm39)	F27I	possibly damaging	Het
Art5	C	A	7: 101,747,306 (GRCm39)	V158L	probably benign	Het
Bora	T	A	14: 99,305,530 (GRCm39)	Y300N	probably damaging	Het
Cd300a	A	G	11: 114,784,288 (GRCm39)	T99A	probably damaging	Het
Cdon	A	G	9: 35,381,431 (GRCm39)	Y607C	probably damaging	Het
Cenatac	A	G	9: 44,328,406 (GRCm39)		probably null	Het
Cpxm2	T	A	7: 131,756,342 (GRCm39)		probably benign	Het
Cstdc7	A	G	18: 42,306,496 (GRCm39)	D21G	possibly damaging	Het
Dhx8	AGACCGGGACCGGGACCGGGACCGGGAC	AGACCGGGACCGGGACCGGGAC	11: 101,629,016 (GRCm39)		probably benign	Het
Dync2i1	T	C	12: 116,219,534 (GRCm39)	E136G	possibly damaging	Het
Enox1	A	C	14: 77,815,096 (GRCm39)	T85P	possibly damaging	Het
Fanci	T	C	7: 79,055,926 (GRCm39)	L158P	probably damaging	Het
Gbgt1	C	A	2: 28,395,019 (GRCm39)	T219N	probably damaging	Het
Gulo	T	C	14: 66,225,707 (GRCm39)	D373G	probably benign	Het
Hivep2	C	A	10: 14,008,336 (GRCm39)	Q1645K	possibly damaging	Het
Iqce	A	C	5: 140,675,814 (GRCm39)	M114R	possibly damaging	Het
Lmbrd1	A	T	1: 24,785,892 (GRCm39)	K396*	probably null	Het
Lrrk2	A	T	15: 91,657,061 (GRCm39)	D1785V	probably damaging	Het
Matcap1	A	T	8: 106,011,687 (GRCm39)	M226K	probably damaging	Het
Mcmdc2	ATAAAAAAAAAGGAAAAATTACCTT	AT	1: 10,011,142 (GRCm39)		probably null	Het
Mepce	A	G	5: 137,781,522 (GRCm39)	V564A	probably damaging	Het
Mmp17	A	T	5: 129,679,193 (GRCm39)	D364V	possibly damaging	Het
Mrgpre	T	C	7: 143,335,246 (GRCm39)	N86D	probably benign	Het
Ms4a20	T	C	19: 11,087,745 (GRCm39)		probably benign	Het
Or2r11	A	T	6: 42,437,098 (GRCm39)	L285Q	probably damaging	Het
Or4f53	T	A	2: 111,087,982 (GRCm39)	I174K	probably damaging	Het
Pate11	A	T	9: 36,388,357 (GRCm39)	K61*	probably null	Het
Pax5	T	C	4: 44,697,630 (GRCm39)	D35G	probably damaging	Het
Pip5k1b	T	A	19: 24,281,440 (GRCm39)	T473S	probably benign	Het
Pkd2l2	A	G	18: 34,542,987 (GRCm39)		probably null	Het
Pygo2	C	A	3: 89,340,067 (GRCm39)	P155Q	probably damaging	Het
Rb1cc1	G	T	1: 6,285,266 (GRCm39)		probably benign	Het
Sbno1	A	C	5: 124,546,538 (GRCm39)		probably null	Het
Slc1a1	T	A	19: 28,874,968 (GRCm39)	V182E	probably benign	Het
Slc34a3	A	T	2: 25,120,671 (GRCm39)	F419I	probably benign	Het
Snx8	A	G	5: 140,343,886 (GRCm39)	V62A	probably damaging	Het
Sp9	T	C	2: 73,104,858 (GRCm39)	S471P	possibly damaging	Het
Sspo	A	T	6: 48,436,549 (GRCm39)	S1270C	probably damaging	Het
Stk11	A	T	10: 79,962,094 (GRCm39)	T83S	probably benign	Het
Syt13	A	G	2: 92,783,897 (GRCm39)	E389G	probably benign	Het
Taf10	T	C	7: 105,390,139 (GRCm39)		probably benign	Het
Tgm1	A	T	14: 55,937,705 (GRCm39)	S801R	possibly damaging	Het
Thoc2l	A	T	5: 104,665,942 (GRCm39)	T155S	probably damaging	Het
Timeless	T	C	10: 128,083,047 (GRCm39)	F628L	possibly damaging	Het
Tmem171	G	T	13: 98,824,956 (GRCm39)	P225T	probably damaging	Het
Tspan12	A	T	6: 21,835,458 (GRCm39)	C72S	possibly damaging	Het
Txk	T	C	5: 72,853,964 (GRCm39)	T458A	probably benign	Het
Txndc9	A	G	1: 38,026,704 (GRCm39)		probably benign	Het
Uap1	C	A	1: 169,971,000 (GRCm39)	C464F	probably damaging	Het
Ugt2b36	A	T	5: 87,240,087 (GRCm39)	Y99*	probably null	Het
Usp35	T	C	7: 96,975,134 (GRCm39)	Y13C	probably damaging	Het
Vmn1r6	T	G	6: 56,979,789 (GRCm39)	N128K	probably damaging	Het
Vmn2r106	T	A	17: 20,497,788 (GRCm39)	I484L	probably benign	Het
Zdbf2	T	A	1: 63,347,092 (GRCm39)	S1824T	probably benign	Het
Zdhhc4	A	G	5: 143,311,915 (GRCm39)	V19A	probably benign	Het
Zfp955b	C	T	17: 33,524,095 (GRCm39)		probably benign	Het
Zfp97	T	A	17: 17,365,472 (GRCm39)	C324S	probably damaging	Het
Zswim8	G	A	14: 20,766,122 (GRCm39)	D803N	probably damaging	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
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
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'- ACCAAAGTGCTATGTTAGGGACC -3'
(R):5'- TGTCCTGAAGGTATACTTGTGATTC -3'

Sequencing Primer
(F):5'- AGTGCTATGTTAGGGACCAATTTAG -3'
(R):5'- GCAATAAGCACTGGTATGG -3'

Posted On

2016-08-04