Mutagenetix > Incidental Mutation

Incidental Mutation 'R4721:Rbpjl'

354442

Institutional Source

Beutler Lab

Gene Symbol

Rbpjl

Ensembl Gene

ENSMUSG00000017007

Gene Name

recombination signal binding protein for immunoglobulin kappa J region-like

Synonyms

Rbpsuhl, RBP-J kappa-like, RBP-L

MMRRC Submission

041986-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4721 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

164245061-164257368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 164246447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 31 (S31R)

Ref Sequence

ENSEMBL: ENSMUSP00000017151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017151] [ENSMUST00000103103] [ENSMUST00000103104] [ENSMUST00000109358] [ENSMUST00000109359]

AlphaFold

O08674

Predicted Effect

probably benign
Transcript: ENSMUST00000017151
AA Change: S31R

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000017151
Gene: ENSMUSG00000017007
AA Change: S31R

Domain	Start	End	E-Value	Type
LAG1_DNAbind	66	204	4.58e-78	SMART
BTD	205	357	1.23e-83	SMART
SCOP:d1a02n1	383	475	3e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103103

SMART Domains

Protein: ENSMUSP00000099392
Gene: ENSMUSG00000016995

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	34	209	8.6e-54	SMART
EGF	220	257	1.04e-3	SMART
EGF	261	298	3.43e-4	SMART
EGF	302	339	1.85e0	SMART
EGF	343	380	1.24e-1	SMART
VWA	386	564	6.72e-56	SMART
Matrilin_ccoil	574	621	2.39e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103104

SMART Domains

Protein: ENSMUSP00000099393
Gene: ENSMUSG00000016995

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	34	209	8.6e-54	SMART
EGF	220	257	1.04e-3	SMART
EGF	261	298	3.43e-4	SMART
EGF	302	339	1.85e0	SMART
EGF	343	380	1.24e-1	SMART
VWA	386	564	6.72e-56	SMART
Matrilin_ccoil	574	621	2.39e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000109356

Predicted Effect

probably benign
Transcript: ENSMUST00000109358

SMART Domains

Protein: ENSMUSP00000104982
Gene: ENSMUSG00000016995

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	34	209	8.6e-54	SMART
EGF	220	257	1.85e0	SMART
EGF	261	298	1.24e-1	SMART
VWA	304	482	6.72e-56	SMART
Matrilin_ccoil	492	539	2.39e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109359

SMART Domains

Protein: ENSMUSP00000104983
Gene: ENSMUSG00000016995

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	34	209	8.6e-54	SMART
EGF	220	257	3.43e-4	SMART
EGF	261	298	1.85e0	SMART
EGF	302	339	1.24e-1	SMART
VWA	345	523	6.72e-56	SMART
Matrilin_ccoil	533	580	2.39e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154940

Meta Mutation Damage Score

0.0635

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (90/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signaling pathway transcription factor recombining binding protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene do not display any obvious phenotype abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,385,107 (GRCm39)	D286G	probably benign	Het
Abca15	G	A	7: 119,949,998 (GRCm39)	E491K	probably benign	Het
Acsl5	A	G	19: 55,268,962 (GRCm39)	T208A	probably benign	Het
Adamts10	T	A	17: 33,764,511 (GRCm39)		probably null	Het
Ahcyl1	T	C	3: 107,577,233 (GRCm39)	Q313R	possibly damaging	Het
Ccdc71	C	T	9: 108,340,622 (GRCm39)	S145L	possibly damaging	Het
Cep250	A	G	2: 155,812,119 (GRCm39)	T472A	probably damaging	Het
Copa	T	C	1: 171,931,841 (GRCm39)		probably benign	Het
Crybg1	C	A	10: 43,873,883 (GRCm39)	R1075L	probably damaging	Het
Ddr2	T	A	1: 169,832,809 (GRCm39)	K84*	probably null	Het
Ddx59	C	T	1: 136,344,844 (GRCm39)	P172S	probably benign	Het
Dhx34	T	A	7: 15,931,307 (GRCm39)	Q1118L	possibly damaging	Het
Dkkl1	T	A	7: 44,857,232 (GRCm39)	I112F	probably damaging	Het
Dnah8	T	A	17: 30,944,140 (GRCm39)	C1786S	probably damaging	Het
Eml6	T	A	11: 29,788,525 (GRCm39)	D520V	possibly damaging	Het
Ergic1	T	A	17: 26,857,750 (GRCm39)	V192E	probably damaging	Het
Fat3	T	C	9: 15,941,262 (GRCm39)	E1343G	probably damaging	Het
Fxr1	T	C	3: 34,118,381 (GRCm39)	S535P	possibly damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm15446	C	T	5: 110,090,866 (GRCm39)	H373Y	probably damaging	Het
Gpr157	A	T	4: 150,183,420 (GRCm39)	N197Y	probably benign	Het
Grid2	G	A	6: 64,643,185 (GRCm39)	M982I	probably benign	Het
Hey2	G	T	10: 30,710,304 (GRCm39)	R150S	possibly damaging	Het
Hmcn1	T	C	1: 150,648,322 (GRCm39)		probably null	Het
Ighv3-3	G	A	12: 114,160,156 (GRCm39)	R85*	probably null	Het
Ighv5-4	A	T	12: 113,561,060 (GRCm39)		probably benign	Het
Igsf21	A	G	4: 139,834,621 (GRCm39)	S84P	probably benign	Het
Kif20b	A	G	19: 34,915,773 (GRCm39)	T517A	probably benign	Het
Krt87	T	C	15: 101,385,863 (GRCm39)	E244G	probably damaging	Het
Lrp1	T	C	10: 127,390,928 (GRCm39)	T2990A	possibly damaging	Het
Lrp1b	T	A	2: 40,605,381 (GRCm39)		probably null	Het
Lrrc42	A	T	4: 107,091,050 (GRCm39)	S382T	probably benign	Het
Magi2	C	T	5: 20,739,467 (GRCm39)	R737W	probably damaging	Het
Mcc	A	G	18: 44,652,623 (GRCm39)	L267P	probably damaging	Het
Mzf1	T	A	7: 12,777,223 (GRCm39)	Q727L	possibly damaging	Het
Mzf1	C	T	7: 12,777,448 (GRCm39)	R652Q	possibly damaging	Het
Nkain3	C	T	4: 20,485,015 (GRCm39)	A21T	probably damaging	Het
Nlrp4e	T	A	7: 23,020,521 (GRCm39)	V336E	possibly damaging	Het
Nptn	C	T	9: 58,548,059 (GRCm39)	R155C	probably damaging	Het
Nr2c2	T	C	6: 92,116,828 (GRCm39)	I10T	possibly damaging	Het
Or12e13	T	A	2: 87,663,515 (GRCm39)	I44N	probably damaging	Het
Or1e26	C	T	11: 73,480,273 (GRCm39)	C97Y	probably damaging	Het
Or1j13	T	C	2: 36,369,836 (GRCm39)	Y102C	probably benign	Het
Pdzk1	G	T	3: 96,776,518 (GRCm39)	E493*	probably null	Het
Plekhh1	GTCAAA	G	12: 79,122,194 (GRCm39)		probably null	Het
Polr3b	T	C	10: 84,491,867 (GRCm39)	V342A	possibly damaging	Het
Prg3	T	C	2: 84,821,750 (GRCm39)	V125A	possibly damaging	Het
Raph1	G	A	1: 60,542,160 (GRCm39)		probably benign	Het
Rassf2	A	G	2: 131,846,358 (GRCm39)	V133A	probably benign	Het
Rbm22	G	A	18: 60,697,463 (GRCm39)	R56H	probably damaging	Het
Reln	A	G	5: 22,124,220 (GRCm39)	V2762A	probably damaging	Het
Rxrg	T	A	1: 167,452,621 (GRCm39)	I141N	probably damaging	Het
Scn7a	C	A	2: 66,514,529 (GRCm39)	G1082C	probably damaging	Het
Selenon	C	A	4: 134,270,387 (GRCm39)	E322*	probably null	Het
Sipa1	C	T	19: 5,710,413 (GRCm39)	R199Q	probably damaging	Het
Slc26a7	A	T	4: 14,510,261 (GRCm39)		probably null	Het
Slc37a4	T	C	9: 44,312,787 (GRCm39)	S314P	possibly damaging	Het
Smarce1	T	C	11: 99,111,543 (GRCm39)	I59V	probably benign	Het
Stk19	T	C	17: 35,042,120 (GRCm39)		probably null	Het
Susd2	C	T	10: 75,473,964 (GRCm39)	D544N	probably benign	Het
Tcf7l2	G	T	19: 55,919,886 (GRCm39)	R465L	possibly damaging	Het
Tfap2d	T	A	1: 19,174,984 (GRCm39)	S146T	possibly damaging	Het
Tmem156	A	G	5: 65,248,870 (GRCm39)	F10S	probably benign	Het
Tmem63c	G	T	12: 87,103,954 (GRCm39)	A68S	possibly damaging	Het
Tnfrsf21	T	C	17: 43,396,395 (GRCm39)	C560R	probably damaging	Het
Trav10n	C	T	14: 53,359,590 (GRCm39)	T7I	probably benign	Het
Ttc38	C	T	15: 85,722,947 (GRCm39)	R132W	probably benign	Het
Tvp23a	T	C	16: 10,245,275 (GRCm39)	K108R	probably benign	Het
Vmn1r233	T	C	17: 21,214,879 (GRCm39)	M24V	probably benign	Het
Vmn1r88	T	A	7: 12,912,451 (GRCm39)	L269*	probably null	Het
Vmn2r101	T	A	17: 19,832,287 (GRCm39)	M761K	probably damaging	Het
Vps13b	C	T	15: 35,910,864 (GRCm39)	Q3543*	probably null	Het
Wdr37	T	C	13: 8,904,065 (GRCm39)	E101G	possibly damaging	Het
Zc3hc1	A	G	6: 30,374,899 (GRCm39)	V214A	probably benign	Het
Zcchc9	A	T	13: 91,948,728 (GRCm39)		probably null	Het
Zdbf2	A	T	1: 63,347,951 (GRCm39)	Q2110L	possibly damaging	Het
Zfp516	T	G	18: 82,975,236 (GRCm39)	L478R	possibly damaging	Het

Other mutations in Rbpjl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01625:Rbpjl	APN	2	164,249,705 (GRCm39)	missense	possibly damaging	0.74
IGL02429:Rbpjl	APN	2	164,255,815 (GRCm39)	missense	possibly damaging	0.80
R2155:Rbpjl	UTSW	2	164,256,343 (GRCm39)	missense	possibly damaging	0.80
R2244:Rbpjl	UTSW	2	164,245,137 (GRCm39)	intron	probably benign
R2344:Rbpjl	UTSW	2	164,256,312 (GRCm39)	missense	probably damaging	0.99
R5023:Rbpjl	UTSW	2	164,252,209 (GRCm39)	missense	probably damaging	1.00
R5492:Rbpjl	UTSW	2	164,256,330 (GRCm39)	frame shift	probably null
R5493:Rbpjl	UTSW	2	164,256,330 (GRCm39)	frame shift	probably null
R5494:Rbpjl	UTSW	2	164,256,330 (GRCm39)	frame shift	probably null
R5556:Rbpjl	UTSW	2	164,249,982 (GRCm39)	missense	probably benign	0.01
R5796:Rbpjl	UTSW	2	164,252,168 (GRCm39)	splice site	probably benign
R6164:Rbpjl	UTSW	2	164,252,799 (GRCm39)	missense	probably damaging	1.00
R7609:Rbpjl	UTSW	2	164,247,734 (GRCm39)	missense	probably benign	0.05
R8025:Rbpjl	UTSW	2	164,252,166 (GRCm39)	splice site	probably benign
R8068:Rbpjl	UTSW	2	164,250,438 (GRCm39)	missense	possibly damaging	0.93
R8251:Rbpjl	UTSW	2	164,255,854 (GRCm39)	missense	probably damaging	0.99
R8928:Rbpjl	UTSW	2	164,250,313 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACCTGCATTTTGTTGGCC -3'
(R):5'- CTCCAGCTGTAGCCCAATTC -3'

Sequencing Primer
(F):5'- CTTGCCAGAGGGGGATCG -3'
(R):5'- AGAACGCTCCTGCCAGTG -3'

Posted On

2015-10-21