Mutagenetix > Incidental Mutation

Incidental Mutation 'R6164:Rbpjl'

490028

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

044310-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

164245061-164257368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 164252799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 284 (L284P)

Ref Sequence

ENSEMBL: ENSMUSP00000017151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017151]

AlphaFold

O08674

Predicted Effect

probably damaging
Transcript: ENSMUST00000017151
AA Change: L284P

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

SMART Domains

Protein: ENSMUSP00000017151
Gene: ENSMUSG00000017007
AA Change: L284P

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

noncoding transcript
Transcript: ENSMUST00000109356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137427

Meta Mutation Damage Score

0.4896

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anpep	A	G	7: 79,491,953 (GRCm39)	I16T	possibly damaging	Het
Ap1s1	T	C	5: 137,066,240 (GRCm39)		probably benign	Het
Atp1a2	T	C	1: 172,106,459 (GRCm39)	S848G	probably damaging	Het
Bche	T	A	3: 73,608,389 (GRCm39)	I346F	possibly damaging	Het
Ccdc148	T	A	2: 58,713,645 (GRCm39)	Y502F	probably damaging	Het
Ccdc88c	T	C	12: 100,919,642 (GRCm39)	M416V	probably damaging	Het
Cdk17	T	C	10: 93,071,331 (GRCm39)	S351P	probably benign	Het
Cfap100	T	C	6: 90,392,768 (GRCm39)	E114G	probably benign	Het
Clec4a4	T	C	6: 122,968,833 (GRCm39)	I66T	possibly damaging	Het
Cpeb4	T	C	11: 31,870,584 (GRCm39)		probably null	Het
Cybrd1	T	C	2: 70,948,618 (GRCm39)	V52A	probably damaging	Het
Decr1	G	A	4: 15,924,347 (GRCm39)	A191V	probably benign	Het
Dnah5	A	T	15: 28,378,489 (GRCm39)	I2942L	probably benign	Het
Ehd4	C	T	2: 119,932,689 (GRCm39)	V246I	possibly damaging	Het
Ercc6l2	A	G	13: 64,020,158 (GRCm39)		probably benign	Het
Exoc4	T	A	6: 33,309,218 (GRCm39)	M280K	probably damaging	Het
Fmo1	T	G	1: 162,678,979 (GRCm39)	E89A	probably benign	Het
Foxm1	A	G	6: 128,350,898 (GRCm39)	D733G	probably benign	Het
Garin5b	T	C	7: 4,773,677 (GRCm39)	T73A	probably damaging	Het
Gulp1	A	C	1: 44,793,511 (GRCm39)	R57S	probably damaging	Het
Hdac1-ps	T	C	17: 78,799,716 (GRCm39)	S236P	probably damaging	Het
Hdac4	G	T	1: 91,957,876 (GRCm39)	A46E	probably benign	Het
Hspg2	T	C	4: 137,241,966 (GRCm39)	S567P	possibly damaging	Het
Insyn1	C	A	9: 58,406,530 (GRCm39)	P147T	probably damaging	Het
Iqgap1	A	C	7: 80,458,854 (GRCm39)	C21W	unknown	Het
Isoc2a	T	C	7: 4,894,488 (GRCm39)	L57P	probably damaging	Het
Krt34	G	A	11: 99,929,272 (GRCm39)	Q313*	probably null	Het
Krt6a	C	T	15: 101,601,008 (GRCm39)	V263I	probably damaging	Het
Man2a1	A	G	17: 65,040,719 (GRCm39)	I106V	possibly damaging	Het
Muc16	T	C	9: 18,469,675 (GRCm39)	D7300G	probably damaging	Het
Muc5b	A	T	7: 141,417,082 (GRCm39)	S3343C	possibly damaging	Het
Mup11	C	T	4: 60,618,239 (GRCm39)	E21K	possibly damaging	Het
Myo3b	T	A	2: 70,075,754 (GRCm39)		probably null	Het
Nlrp4c	T	C	7: 6,095,507 (GRCm39)	L795P	probably damaging	Het
Nup160	T	A	2: 90,548,220 (GRCm39)	Y984*	probably null	Het
Nwd1	C	T	8: 73,388,814 (GRCm39)	R81W	probably damaging	Het
Or2d3	G	T	7: 106,491,135 (GRCm39)	Y60*	probably null	Het
Or5p52	A	G	7: 107,502,595 (GRCm39)	T224A	probably benign	Het
Osmr	A	G	15: 6,889,833 (GRCm39)	V5A	probably benign	Het
Pabir1	T	A	19: 24,454,450 (GRCm39)	M91L	probably benign	Het
Pcsk5	A	G	19: 17,814,317 (GRCm39)		probably null	Het
Pex11a	G	A	7: 79,387,127 (GRCm39)	T235M	probably damaging	Het
Pik3r6	A	G	11: 68,442,799 (GRCm39)	T730A	probably benign	Het
Ppp1r9a	C	T	6: 5,110,715 (GRCm39)		probably benign	Het
Ppp2r2d	T	C	7: 138,474,742 (GRCm39)	I41T	probably damaging	Het
Prdm1	C	T	10: 44,326,191 (GRCm39)	R126H	probably damaging	Het
Primpol	C	T	8: 47,039,477 (GRCm39)	R381H	probably benign	Het
Prl7a1	C	A	13: 27,821,626 (GRCm39)	Q102H	probably benign	Het
Rgs21	A	T	1: 144,417,035 (GRCm39)	C6S	probably benign	Het
Rnasel	T	C	1: 153,630,138 (GRCm39)	V218A	probably benign	Het
Sag	G	T	1: 87,752,175 (GRCm39)	V223L	probably damaging	Het
Sdk1	C	T	5: 142,117,824 (GRCm39)	T1574M	probably damaging	Het
Secisbp2	G	A	13: 51,833,896 (GRCm39)	V679M	probably damaging	Het
Sele	T	A	1: 163,879,386 (GRCm39)		probably null	Het
Senp7	T	A	16: 55,990,117 (GRCm39)	L622M	probably damaging	Het
Sgo1	G	A	17: 53,983,981 (GRCm39)	R466C	probably damaging	Het
Sh3tc1	C	A	5: 35,863,590 (GRCm39)	V866L	probably benign	Het
Snrnp25	T	A	11: 32,157,647 (GRCm39)	V75D	probably benign	Het
Syne1	C	T	10: 5,011,429 (GRCm39)	C7899Y	probably damaging	Het
U2af1l4	T	C	7: 30,264,007 (GRCm39)	S55P	probably damaging	Het
Vmn1r23	A	G	6: 57,903,040 (GRCm39)	I246T	possibly damaging	Het
Vmn1r66	T	A	7: 10,008,329 (GRCm39)	R235*	probably null	Het
Wnk4	C	T	11: 101,165,894 (GRCm39)	A807V	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
R4721:Rbpjl	UTSW	2	164,246,447 (GRCm39)	missense	probably benign	0.08
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
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'- CTTTCTCATGGCTAGCTGCG -3'
(R):5'- GGGATATGGGTTCATCCACATC -3'

Sequencing Primer
(F):5'- CGTTGTGCGTTAAAGCCAGAG -3'
(R):5'- TATGGGTTCATCCACATCAAGGAG -3'

Posted On

2017-10-10