Mutagenetix > Incidental Mutation

Incidental Mutation 'R2870:Rel'

266535

Institutional Source

Beutler Lab

Gene Symbol

Rel

Ensembl Gene

ENSMUSG00000020275

Gene Name

reticuloendotheliosis oncogene

Synonyms

c-Rel

MMRRC Submission

040458-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2870 (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: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	A	G	3: 30,653,847 (GRCm39)	V51A	probably damaging	Het
Adgb	C	T	10: 10,307,025 (GRCm39)		probably null	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Ankrd10	C	T	8: 11,665,682 (GRCm39)	R306H	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
C030034I22Rik	T	A	17: 69,725,106 (GRCm39)		noncoding transcript	Het
Cacna2d1	G	A	5: 16,517,566 (GRCm39)	C404Y	probably damaging	Het
Ccdc163	T	C	4: 116,599,058 (GRCm39)		silent	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Cimap1d	G	A	10: 79,481,487 (GRCm39)	T14I	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Csmd3	C	T	15: 47,721,320 (GRCm39)	G1437D	probably 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
Dcp1b	C	T	6: 119,191,735 (GRCm39)	S217L	probably benign	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Dmp1	A	G	5: 104,359,974 (GRCm39)	S217G	probably benign	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Eral1	A	G	11: 77,967,104 (GRCm39)	I164T	possibly damaging	Het
Esr1	G	A	10: 4,947,890 (GRCm39)	R481H	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Gm21759	T	A	5: 8,230,863 (GRCm39)		probably benign	Het
Gm5454	C	A	13: 103,494,031 (GRCm39)		noncoding transcript	Het
Gm9874	A	T	17: 30,704,763 (GRCm39)		probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Gria4	T	A	9: 4,503,614 (GRCm39)	N334I	probably damaging	Het
Grm5	T	C	7: 87,251,930 (GRCm39)	V60A	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Ino80d	C	T	1: 63,100,198 (GRCm39)		probably null	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Krt31	T	G	11: 99,938,699 (GRCm39)	N298T	possibly damaging	Het
Mapk7	C	A	11: 61,381,038 (GRCm39)		probably benign	Het
Marchf8	C	T	6: 116,378,106 (GRCm39)		probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mdm1	A	G	10: 117,986,847 (GRCm39)	T267A	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mtm1	T	C	X: 70,339,968 (GRCm39)		probably benign	Homo
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Mylk2	A	G	2: 152,761,268 (GRCm39)	K457R	probably damaging	Het
Nell1	A	T	7: 49,899,405 (GRCm39)		probably benign	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Or8k33	T	C	2: 86,383,928 (GRCm39)	D180G	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
Otx1	A	G	11: 21,948,681 (GRCm39)		probably benign	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Pcdhb20	A	T	18: 37,638,833 (GRCm39)	Q453L	possibly damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	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
Pold1	C	T	7: 44,192,771 (GRCm39)		silent	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Retnla	A	G	16: 48,663,975 (GRCm39)	R90G	probably benign	Het
Semp2l2b	A	T	10: 21,943,278 (GRCm39)	I234N	probably benign	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,740,825 (GRCm39)	I247V	probably benign	Het
Son	A	G	16: 91,461,205 (GRCm39)		probably null	Het
Spcs2	T	C	7: 99,488,968 (GRCm39)	D240G	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Taf6l	A	G	19: 8,755,992 (GRCm39)		probably benign	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Thbs1	C	G	2: 117,949,859 (GRCm39)	N611K	probably damaging	Het
Tipin	A	C	9: 64,211,609 (GRCm39)	S232R	probably benign	Het
Tmem132b	A	G	5: 125,715,332 (GRCm39)	D347G	probably benign	Het
Tmem161a	C	T	8: 70,631,565 (GRCm39)		probably benign	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	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
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
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'- GGTTGCAAAAGACTGTTAAACTGAG -3'
(R):5'- AATTGCCCTCATGTGGACAGG -3'

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

Posted On

2015-02-18