Mutagenetix > Incidental Mutations

Incidental Mutation 'R2513:Rel'

253655

Institutional Source

Beutler Lab

Gene Symbol

Rel

Ensembl Gene

ENSMUSG00000020275

Gene Name

reticuloendotheliosis oncogene

Synonyms

c-Rel

MMRRC Submission

040419-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2513 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23736847-23770970 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23745823 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 188 (I188T)

Ref Sequence

ENSEMBL: ENSMUSP00000099928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102864]

Predicted Effect

probably damaging
Transcript: ENSMUST00000102864
AA Change: I188T

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

SMART Domains

Protein: ENSMUSP00000099928
Gene: ENSMUSG00000020275
AA Change: I188T

Domain	Start	End	E-Value	Type
Pfam:RHD_DNA_bind	10	178	8.1e-78	PFAM
IPT	185	280	7.64e-24	SMART
low complexity region	512	530	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin's lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous inactivation of this gene causes defects in lymphocyte proliferation, humoral immunity and cytokine production, and may lead to impaired Th1 responses and resistance to autoimmune disease. Mice lacking only the COOH-terminal region show severehemopoietic defects and lymphoid hyperplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,661,852	T719A	possibly damaging	Het
9530053A07Rik	C	G	7: 28,131,635	S91C	probably damaging	Het
Abcc1	A	G	16: 14,473,009		probably null	Het
Aftph	C	T	11: 20,708,676		probably null	Het
Als2	C	A	1: 59,215,117	K360N	probably benign	Het
Atg2a	T	A	19: 6,258,046		probably null	Het
Axl	T	C	7: 25,787,516	D22G	probably benign	Het
Baiap2	G	A	11: 119,999,226	A438T	probably benign	Het
Bean1	G	C	8: 104,182,011	A7P	probably benign	Het
Birc6	C	G	17: 74,647,729	P3431R	probably damaging	Het
Camk1d	A	G	2: 5,714,236	M1T	probably null	Het
Carmil3	T	C	14: 55,503,838	Y1027H	probably damaging	Het
Ccdc6	G	A	10: 70,187,828		probably benign	Het
Cemip	C	A	7: 83,942,025	V1280L	probably benign	Het
Cfap58	C	A	19: 47,962,542	N447K	probably benign	Het
Chd3	A	G	11: 69,360,645	L520P	probably damaging	Het
Col1a2	T	A	6: 4,531,223		probably null	Het
Cpne7	A	C	8: 123,117,667		probably null	Het
Ctla4	T	C	1: 60,912,564	V84A	probably damaging	Het
Dap3	A	G	3: 88,928,258	V263A	probably benign	Het
Dhx57	T	A	17: 80,241,949		probably null	Het
Dlg5	C	A	14: 24,164,525	K663N	probably damaging	Het
Dsg3	C	A	18: 20,523,662	F196L	possibly damaging	Het
Eif2ak4	C	A	2: 118,426,583	D402E	probably damaging	Het
Fam208b	G	T	13: 3,582,150	L784I	possibly damaging	Het
Fance	T	C	17: 28,318,094	V24A	probably benign	Het
Fasn	A	T	11: 120,814,748	L1149Q	probably damaging	Het
Flg	T	A	3: 93,279,786	S182T	possibly damaging	Het
Gm128	T	A	3: 95,239,982	S334C	possibly damaging	Het
Gm3727	A	C	14: 7,264,561	H31Q	probably damaging	Het
Gm4841	T	G	18: 60,270,905	T39P	probably damaging	Het
Golgb1	G	T	16: 36,915,151	V1587L	possibly damaging	Het
Golm1	G	A	13: 59,642,258	P243S	probably benign	Het
Gstcd	C	A	3: 133,082,320	A206S	possibly damaging	Het
Gstcd	C	A	3: 133,082,321	K205N	possibly damaging	Het
Gtf3c1	A	G	7: 125,681,173	V355A	probably benign	Het
Hhatl	T	C	9: 121,789,170	D173G	probably benign	Het
Kcnu1	T	A	8: 25,905,966	C660S	probably benign	Het
Kctd8	T	C	5: 69,110,645	D374G	probably benign	Het
Kif21a	T	C	15: 90,994,391	I229V	possibly damaging	Het
L3mbtl1	A	T	2: 162,967,585	I702F	probably benign	Het
Lce1d	T	C	3: 92,685,759		probably benign	Het
Lrig1	C	T	6: 94,617,366		probably null	Het
Lrp12	A	T	15: 39,876,111	D563E	probably damaging	Het
Lrp2	C	T	2: 69,506,374		probably null	Het
Map3k5	G	A	10: 20,094,455	V703I	possibly damaging	Het
Mecr	A	G	4: 131,853,765	R110G	probably benign	Het
Mtrr	T	A	13: 68,566,973	K445*	probably null	Het
Nanos1	T	A	19: 60,756,552	L96Q	probably benign	Het
Olfr538	T	G	7: 140,574,156	M1R	probably null	Het
Olfr574	T	A	7: 102,949,493	F333I	probably benign	Het
Olfr807	T	A	10: 129,755,152	L99F	probably damaging	Het
Otog	T	C	7: 46,305,590		probably null	Het
Pcdhb3	T	A	18: 37,301,239	L86*	probably null	Het
Pcdhb3	A	T	18: 37,301,240	L86F	probably damaging	Het
Pcdhb3	G	T	18: 37,301,241	V87F	probably benign	Het
Pdgfd	A	G	9: 6,359,894	K322E	probably damaging	Het
Picalm	T	C	7: 90,197,009	S648P	probably damaging	Het
Pigr	T	C	1: 130,846,620	S446P	possibly damaging	Het
Pik3cb	A	C	9: 99,061,842	L636W	probably damaging	Het
Pla2g2f	A	T	4: 138,754,162	L92Q	probably damaging	Het
Plod3	G	C	5: 136,988,146	A50P	probably benign	Het
Prkar2b	C	T	12: 31,975,929	V191I	possibly damaging	Het
Prune1	C	A	3: 95,258,119	A281S	probably benign	Het
Ptges3l	A	T	11: 101,424,042	C42S	possibly damaging	Het
Reg3b	A	T	6: 78,371,819	I33L	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Ripor1	G	T	8: 105,617,622	V463L	probably benign	Het
Rrm1	T	A	7: 102,460,689	D510E	probably damaging	Het
Setd7	A	G	3: 51,533,015	S202P	probably damaging	Het
Shank3	T	A	15: 89,548,686	D1211E	probably benign	Het
Slc30a1	A	T	1: 191,907,562	T186S	possibly damaging	Het
Slc4a4	G	A	5: 89,156,398	V523I	probably benign	Het
Slc9a2	T	A	1: 40,742,608		probably null	Het
Smg6	A	G	11: 74,929,676	T258A	probably damaging	Het
Sptlc1	C	T	13: 53,337,640	D408N	possibly damaging	Het
Tbl3	T	C	17: 24,704,550		probably null	Het
Tdo2	T	C	3: 81,969,505	D139G	possibly damaging	Het
Ticam1	T	A	17: 56,271,612	H161L	possibly damaging	Het
Tnfaip3	T	A	10: 19,005,659	D293V	probably benign	Het
Trim72	G	A	7: 128,004,706	V75M	possibly damaging	Het
Trip11	T	A	12: 101,837,727	N1632I	possibly damaging	Het
Tspan18	A	T	2: 93,220,095	M61K	possibly damaging	Het
Tuba8	A	T	6: 121,225,973	E415V	probably damaging	Het
Ung	A	G	5: 114,137,192	H214R	probably benign	Het
Uqcrc1	T	C	9: 108,936,768	L17P	probably damaging	Het
Usp24	A	G	4: 106,379,405		probably null	Het
Vps39	A	C	2: 120,338,787	Y245D	probably damaging	Het
Whrn	T	A	4: 63,435,412	T373S	probably benign	Het
Zc2hc1a	C	T	3: 7,516,536		probably null	Het

Other mutations in Rel

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00663:Rel	APN	11	23757043	missense	probably benign	0.31
IGL00819:Rel	APN	11	23743029	missense	probably benign	0.13
IGL00906:Rel	APN	11	23744266	missense	probably benign	0.00
IGL01358:Rel	APN	11	23761155	missense	probably benign	0.06
IGL01820:Rel	APN	11	23753218	missense	probably benign	0.22
IGL01889:Rel	APN	11	23757035	missense	probably damaging	0.96
IGL03270:Rel	APN	11	23742584	missense	probably benign	0.16
Amun-ra	UTSW	11	23757026	nonsense	probably null
Fleur	UTSW	11		unclassified
giza	UTSW	11	23757010	missense	probably damaging	1.00
Horus	UTSW	11	23753215	critical splice donor site	probably null
R0766:Rel	UTSW	11	23757010	missense	probably damaging	1.00
R0924:Rel	UTSW	11	23742439	missense	probably benign	0.02
R0930:Rel	UTSW	11	23742439	missense	probably benign	0.02
R1312:Rel	UTSW	11	23757010	missense	probably damaging	1.00
R1339:Rel	UTSW	11	23745763	missense	probably damaging	1.00
R1584:Rel	UTSW	11	23745546	missense	probably damaging	1.00
R1980:Rel	UTSW	11	23742761	missense	probably benign
R1981:Rel	UTSW	11	23742761	missense	probably benign
R1982:Rel	UTSW	11	23742761	missense	probably benign
R2870:Rel	UTSW	11	23761129	missense	probably benign
R2870:Rel	UTSW	11	23761129	missense	probably benign
R2871:Rel	UTSW	11	23761129	missense	probably benign
R2871:Rel	UTSW	11	23761129	missense	probably benign
R2872:Rel	UTSW	11	23761129	missense	probably benign
R2872:Rel	UTSW	11	23761129	missense	probably benign
R3617:Rel	UTSW	11	23745780	missense	probably damaging	1.00
R3976:Rel	UTSW	11	23742939	missense	probably benign	0.07
R4010:Rel	UTSW	11	23761138	missense	probably benign
R4067:Rel	UTSW	11	23753215	critical splice donor site	probably null
R5345:Rel	UTSW	11	23742462	missense	probably benign	0.00
R5866:Rel	UTSW	11	23742724	nonsense	probably null
R6032:Rel	UTSW	11	23742684	missense	probably benign	0.02
R6032:Rel	UTSW	11	23742684	missense	probably benign	0.02
R6562:Rel	UTSW	11	23757026	nonsense	probably null
R6886:Rel	UTSW	11	23744304	missense	probably benign	0.03
R7516:Rel	UTSW	11	23742785	missense	probably benign	0.00
R7522:Rel	UTSW	11	23770676	splice site	probably null
R7663:Rel	UTSW	11	23742713	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCATCTAGTGAATAAGATGCCAAAGAA -3'
(R):5'- TCAGACATACCTCAGCATAGCT -3'

Sequencing Primer
(F):5'- TGCCAAAGAATAATAACAATGGGG -3'
(R):5'- CAGGCGACTTTTGGTCAT -3'

Posted On

2014-12-04