Mutagenetix > Incidental Mutation

Incidental Mutation 'R2872:Rel'

253924

Institutional Source

Beutler Lab

Gene Symbol

Rel

Ensembl Gene

ENSMUSG00000020275

Gene Name

reticuloendotheliosis oncogene

Synonyms

c-Rel

MMRRC Submission

040460-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2872 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23686847-23720969 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23711129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 13 (I13V)

Ref Sequence

ENSEMBL: ENSMUSP00000099928 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000102864
AA Change: I13V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099928
Gene: ENSMUSG00000020275
AA Change: I13V

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

Meta Mutation Damage Score

0.0583

Coding Region Coverage

1x: 99.6%
3x: 98.6%
10x: 94.5%
20x: 80.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Ak8	T	C	2: 28,632,732 (GRCm39)	I317T	possibly damaging	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Cilk1	A	T	9: 78,047,382 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,606,831 (GRCm39)	F531I	probably damaging	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Ctnnd1	C	T	2: 84,451,232 (GRCm39)	V123I	possibly damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Het
Gpr156	T	A	16: 37,812,585 (GRCm39)	V307D	probably damaging	Het
Gpr35	G	A	1: 92,910,848 (GRCm39)	V187I	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Hdac10	G	T	15: 89,010,059 (GRCm39)	Q300K	possibly damaging	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Igsf9b	A	G	9: 27,233,519 (GRCm39)	I340V	probably benign	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	T	C	8: 71,743,610 (GRCm39)	Y224H	probably benign	Het
Nlrc3	T	C	16: 3,775,190 (GRCm39)	D774G	possibly damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Nsun2	A	G	13: 69,777,801 (GRCm39)	T425A	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or1o4	A	G	17: 37,590,867 (GRCm39)	V148A	possibly damaging	Het
Or52u1	T	C	7: 104,237,700 (GRCm39)	S230P	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Paqr5	A	T	9: 61,876,061 (GRCm39)		probably null	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pkd1l2	C	T	8: 117,764,903 (GRCm39)	V1332I	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg1	T	G	10: 3,913,982 (GRCm39)	S1235A	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Polg2	A	G	11: 106,666,251 (GRCm39)		probably null	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Het
Rapgef6	T	A	11: 54,552,001 (GRCm39)	F956L	probably damaging	Het
Rasl12	A	G	9: 65,315,605 (GRCm39)	N83S	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Sel1l3	C	T	5: 53,295,225 (GRCm39)	W792*	probably null	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc6a9	T	A	4: 117,706,578 (GRCm39)	M1K	probably null	Het
Smpdl3a	T	A	10: 57,678,626 (GRCm39)	F143Y	possibly damaging	Het
Spsb4	G	T	9: 96,878,071 (GRCm39)	T84K	probably damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Tdpoz3	T	A	3: 93,733,735 (GRCm39)	F137I	probably benign	Het
Tgm7	G	A	2: 120,940,174 (GRCm39)		probably benign	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,068,466 (GRCm39)	Y16*	probably null	Het
Trpa1	A	G	1: 14,957,844 (GRCm39)	C705R	probably damaging	Het
Ttn	A	G	2: 76,581,195 (GRCm39)	S23233P	probably damaging	Het
Uevld	T	C	7: 46,597,693 (GRCm39)	D154G	probably null	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Zfp292	G	A	4: 34,808,595 (GRCm39)	T1483M	probably damaging	Het

Other mutations in Rel

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00663:Rel	APN	11	23,707,043 (GRCm39)	missense	probably benign	0.31
IGL00819:Rel	APN	11	23,693,029 (GRCm39)	missense	probably benign	0.13
IGL00906:Rel	APN	11	23,694,266 (GRCm39)	missense	probably benign	0.00
IGL01358:Rel	APN	11	23,711,155 (GRCm39)	missense	probably benign	0.06
IGL01820:Rel	APN	11	23,703,218 (GRCm39)	missense	probably benign	0.22
IGL01889:Rel	APN	11	23,707,035 (GRCm39)	missense	probably damaging	0.96
IGL03270:Rel	APN	11	23,692,584 (GRCm39)	missense	probably benign	0.16
Amun-ra	UTSW	11	23,707,026 (GRCm39)	nonsense	probably null
Fleur	UTSW	11	0 ()	unclassified
giza	UTSW	11	23,707,010 (GRCm39)	missense	probably damaging	1.00
Horus	UTSW	11	23,703,215 (GRCm39)	critical splice donor site	probably null
osirus	UTSW	11	23,692,713 (GRCm39)	missense	probably benign	0.00
Seth	UTSW	11	23,698,855 (GRCm39)	missense	probably damaging	1.00
R0766:Rel	UTSW	11	23,707,010 (GRCm39)	missense	probably damaging	1.00
R0924:Rel	UTSW	11	23,692,439 (GRCm39)	missense	probably benign	0.02
R0930:Rel	UTSW	11	23,692,439 (GRCm39)	missense	probably benign	0.02
R1312:Rel	UTSW	11	23,707,010 (GRCm39)	missense	probably damaging	1.00
R1339:Rel	UTSW	11	23,695,763 (GRCm39)	missense	probably damaging	1.00
R1584:Rel	UTSW	11	23,695,546 (GRCm39)	missense	probably damaging	1.00
R1980:Rel	UTSW	11	23,692,761 (GRCm39)	missense	probably benign
R1981:Rel	UTSW	11	23,692,761 (GRCm39)	missense	probably benign
R1982:Rel	UTSW	11	23,692,761 (GRCm39)	missense	probably benign
R2513:Rel	UTSW	11	23,695,823 (GRCm39)	missense	probably damaging	1.00
R2870:Rel	UTSW	11	23,711,129 (GRCm39)	missense	probably benign
R2870:Rel	UTSW	11	23,711,129 (GRCm39)	missense	probably benign
R2871:Rel	UTSW	11	23,711,129 (GRCm39)	missense	probably benign
R2871:Rel	UTSW	11	23,711,129 (GRCm39)	missense	probably benign
R2872:Rel	UTSW	11	23,711,129 (GRCm39)	missense	probably benign
R3617:Rel	UTSW	11	23,695,780 (GRCm39)	missense	probably damaging	1.00
R3976:Rel	UTSW	11	23,692,939 (GRCm39)	missense	probably benign	0.07
R4010:Rel	UTSW	11	23,711,138 (GRCm39)	missense	probably benign
R4067:Rel	UTSW	11	23,703,215 (GRCm39)	critical splice donor site	probably null
R5345:Rel	UTSW	11	23,692,462 (GRCm39)	missense	probably benign	0.00
R5866:Rel	UTSW	11	23,692,724 (GRCm39)	nonsense	probably null
R6032:Rel	UTSW	11	23,692,684 (GRCm39)	missense	probably benign	0.02
R6032:Rel	UTSW	11	23,692,684 (GRCm39)	missense	probably benign	0.02
R6562:Rel	UTSW	11	23,707,026 (GRCm39)	nonsense	probably null
R6886:Rel	UTSW	11	23,694,304 (GRCm39)	missense	probably benign	0.03
R7516:Rel	UTSW	11	23,692,785 (GRCm39)	missense	probably benign	0.00
R7522:Rel	UTSW	11	23,720,676 (GRCm39)	splice site	probably null
R7663:Rel	UTSW	11	23,692,713 (GRCm39)	missense	probably benign	0.00
R7873:Rel	UTSW	11	23,692,957 (GRCm39)	missense	probably benign	0.00
R7960:Rel	UTSW	11	23,694,493 (GRCm39)	missense	probably damaging	0.98
R8679:Rel	UTSW	11	23,692,430 (GRCm39)	missense	probably benign
R8819:Rel	UTSW	11	23,695,626 (GRCm39)	missense	probably damaging	1.00
R9001:Rel	UTSW	11	23,698,855 (GRCm39)	missense	probably damaging	1.00
R9215:Rel	UTSW	11	23,698,870 (GRCm39)	missense	probably benign	0.00
Z1176:Rel	UTSW	11	23,695,472 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGGTTGCAAAAGACTGTTAAACTG -3'
(R):5'- ATTGCCCTCATGTGGACAGG -3'

Sequencing Primer
(F):5'- AAACTGAGTCTTCTGCCAGG -3'
(R):5'- GCAATAAAGAACTCACCAGTTATGTG -3'

Posted On

2014-12-04