Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02429:Rbpjl'

293045

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02429

Quality Score

Status

Chromosome

Chromosomal Location

164245061-164257368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 164255815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 353 (D353G)

Ref Sequence

ENSEMBL: ENSMUSP00000017151 (fasta)

Gene Model

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

AlphaFold

O08674

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017151
AA Change: D353G

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000017151
Gene: ENSMUSG00000017007
AA Change: D353G

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

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	A	T	1: 127,687,453 (GRCm39)	D245V	probably damaging	Het
Adamts16	G	A	13: 70,935,289 (GRCm39)		probably benign	Het
Arhgap36	A	G	X: 48,583,583 (GRCm39)	D77G	possibly damaging	Het
Asap1	A	T	15: 64,039,589 (GRCm39)	M187K	probably damaging	Het
Aspm	T	C	1: 139,407,548 (GRCm39)	V2145A	probably benign	Het
Ccn6	T	C	10: 39,030,989 (GRCm39)	N178S	probably benign	Het
Cd46	T	C	1: 194,767,732 (GRCm39)	T110A	probably benign	Het
Chl1	T	A	6: 103,641,770 (GRCm39)		probably benign	Het
Clca3b	A	G	3: 144,533,896 (GRCm39)	L493S	probably damaging	Het
Col11a2	C	T	17: 34,261,266 (GRCm39)	T72M	probably damaging	Het
Cyfip1	T	A	7: 55,521,730 (GRCm39)		probably benign	Het
Frmd4b	T	C	6: 97,302,390 (GRCm39)		probably benign	Het
Glyr1	A	G	16: 4,837,240 (GRCm39)	M397T	probably benign	Het
Golm2	A	G	2: 121,742,468 (GRCm39)	T306A	probably benign	Het
Gtf2a1l	G	T	17: 88,976,141 (GRCm39)	M1I	probably null	Het
Hdac4	A	G	1: 91,940,417 (GRCm39)	L154P	probably benign	Het
Ints8	A	T	4: 11,231,720 (GRCm39)	C422S	probably damaging	Het
Kng2	T	A	16: 22,830,829 (GRCm39)	K160I	probably damaging	Het
Lrrc23	C	A	6: 124,755,130 (GRCm39)	A136S	probably damaging	Het
Ltf	T	C	9: 110,855,193 (GRCm39)	I402T	possibly damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mfsd4a	T	C	1: 131,956,237 (GRCm39)	H509R	probably benign	Het
Mthfd1l	A	G	10: 4,039,334 (GRCm39)	K782E	probably damaging	Het
Mvb12b	G	A	2: 33,717,800 (GRCm39)	R114W	probably damaging	Het
Myh4	A	T	11: 67,149,808 (GRCm39)	K1818*	probably null	Het
Myo1h	C	T	5: 114,497,799 (GRCm39)		probably benign	Het
Ncapd3	T	A	9: 27,000,598 (GRCm39)	S1402T	probably benign	Het
Nutm2	A	G	13: 50,623,516 (GRCm39)	N71S	probably benign	Het
Oas1c	C	A	5: 120,940,133 (GRCm39)	M344I	probably benign	Het
Or10g7	T	A	9: 39,905,138 (GRCm39)	F11I	probably benign	Het
Phldb1	A	G	9: 44,612,247 (GRCm39)	L1019P	probably damaging	Het
Plxnc1	T	C	10: 94,718,453 (GRCm39)	E494G	probably benign	Het
Pole	T	C	5: 110,447,666 (GRCm39)	I734T	probably benign	Het
Ppp1r3b	T	C	8: 35,851,769 (GRCm39)	S203P	probably benign	Het
Pth2r	G	T	1: 65,385,998 (GRCm39)	M240I	probably benign	Het
Ptprr	T	A	10: 116,109,672 (GRCm39)	F394I	probably damaging	Het
Rabgef1	T	C	5: 130,239,329 (GRCm39)	S265P	possibly damaging	Het
Rfc3	A	G	5: 151,574,596 (GRCm39)	Y8H	probably benign	Het
Rph3a	A	T	5: 121,118,187 (GRCm39)		probably null	Het
Runx1t1	A	T	4: 13,865,294 (GRCm39)		probably benign	Het
Slc37a1	T	A	17: 31,519,483 (GRCm39)		probably null	Het
Slc38a10	T	C	11: 120,025,714 (GRCm39)		probably benign	Het
Slc38a6	T	C	12: 73,397,342 (GRCm39)	V328A	probably benign	Het
Slf2	T	C	19: 44,930,167 (GRCm39)	S415P	probably benign	Het
Spata17	C	A	1: 186,872,631 (GRCm39)	R60L	possibly damaging	Het
Svil	T	A	18: 5,118,369 (GRCm39)	D2237E	probably benign	Het
Swap70	T	A	7: 109,863,179 (GRCm39)	N169K	probably benign	Het
Tnfrsf11a	A	G	1: 105,755,443 (GRCm39)	D505G	probably benign	Het
Traf1	A	G	2: 34,839,115 (GRCm39)	V70A	probably benign	Het
Traf3	T	A	12: 111,209,899 (GRCm39)	V165E	probably benign	Het
Trpc5	T	C	X: 143,194,795 (GRCm39)	E570G	probably damaging	Het
Ubash3a	A	G	17: 31,460,279 (GRCm39)	N601S	probably benign	Het
Vmn2r30	C	T	7: 7,337,243 (GRCm39)	C131Y	possibly damaging	Het
Vmn2r43	T	C	7: 8,258,551 (GRCm39)	I221V	probably benign	Het
Vmn2r97	T	A	17: 19,150,596 (GRCm39)	V481E	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
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
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

Posted On

2015-04-16