Mutagenetix > Incidental Mutation

Incidental Mutation 'R7663:Rel'

591723

Institutional Source

Beutler Lab

Gene Symbol

Rel

Ensembl Gene

ENSMUSG00000020275

Gene Name

reticuloendotheliosis oncogene

Synonyms

c-Rel

MMRRC Submission

045738-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7663 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23686847-23720969 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23692713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 440 (D440G)

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: D440G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099928
Gene: ENSMUSG00000020275
AA Change: D440G

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

0.0718

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (68/69)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,887 (GRCm39)	T359A	probably damaging	Het
Abcd4	A	C	12: 84,652,903 (GRCm39)	V433G	probably damaging	Het
Acot5	C	A	12: 84,116,355 (GRCm39)	R39S	probably damaging	Het
Actl9	T	C	17: 33,652,443 (GRCm39)	S168P	probably damaging	Het
Adam15	A	G	3: 89,253,113 (GRCm39)	L237P	probably damaging	Het
Ahctf1	T	C	1: 179,617,879 (GRCm39)	Q289R	possibly damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Asah1	C	T	8: 41,794,664 (GRCm39)	R385Q	probably damaging	Het
Bicc1	T	C	10: 70,782,420 (GRCm39)	T607A	probably benign	Het
Ccdc88a	T	C	11: 29,448,614 (GRCm39)		probably null	Het
Cdhr4	A	T	9: 107,875,971 (GRCm39)	R750*	probably null	Het
Cep290	T	A	10: 100,390,398 (GRCm39)		probably null	Het
Clca3a1	T	A	3: 144,442,797 (GRCm39)	D749V	probably benign	Het
Clcn1	C	T	6: 42,286,997 (GRCm39)	P685S	possibly damaging	Het
Clk1	A	G	1: 58,460,319 (GRCm39)	S104P	probably damaging	Het
Commd10	T	C	18: 47,219,323 (GRCm39)	V172A	probably benign	Het
Cyp2c69	A	T	19: 39,865,953 (GRCm39)	C213*	probably null	Het
Dnah14	A	T	1: 181,579,720 (GRCm39)		probably null	Het
Dock2	C	T	11: 34,611,854 (GRCm39)	G170R	probably damaging	Het
Fam186a	T	G	15: 99,842,950 (GRCm39)	H1098P	probably benign	Het
Flt1	T	C	5: 147,591,930 (GRCm39)	T511A	probably benign	Het
Fmo1	A	C	1: 162,663,866 (GRCm39)	I221S	possibly damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Ginm1	A	T	10: 7,651,126 (GRCm39)	S93R	possibly damaging	Het
Gm3629	A	C	14: 17,875,685 (GRCm39)		probably null	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gys2	C	T	6: 142,405,211 (GRCm39)	R192H	probably damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Hectd4	C	A	5: 121,462,094 (GRCm39)	A987E	probably benign	Het
Herc2	G	A	7: 55,786,433 (GRCm39)	V1593I	probably benign	Het
Ighv14-3	T	C	12: 114,023,554 (GRCm39)	T88A	probably benign	Het
Jag2	T	C	12: 112,877,286 (GRCm39)	D695G	probably damaging	Het
Kazn	A	T	4: 141,832,209 (GRCm39)	D663E		Het
Krt79	T	C	15: 101,840,278 (GRCm39)	D306G	probably damaging	Het
Lama1	T	A	17: 68,087,875 (GRCm39)	C1498S		Het
Ldb1	T	C	19: 46,023,963 (GRCm39)	Y141C	probably damaging	Het
Lmnb2	T	A	10: 80,740,573 (GRCm39)	E336V	probably damaging	Het
Lrp1b	T	A	2: 42,543,047 (GRCm39)		probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Mycbp2	T	A	14: 103,429,045 (GRCm39)	Y2377F	probably damaging	Het
Neb	T	A	2: 52,120,059 (GRCm39)	Y721F		Het
Ntf3	A	G	6: 126,078,778 (GRCm39)	S243P	probably damaging	Het
Or4c103	G	C	2: 88,513,696 (GRCm39)	P127A	probably damaging	Het
Or52s1	T	C	7: 102,861,652 (GRCm39)	M195T	possibly damaging	Het
Or5b121	G	T	19: 13,507,809 (GRCm39)	M301I	probably damaging	Het
Pdk1	G	A	2: 71,705,742 (GRCm39)		probably null	Het
Pdzd2	A	G	15: 12,373,289 (GRCm39)	V2282A	probably damaging	Het
Piwil1	T	C	5: 128,824,497 (GRCm39)	F517L	probably benign	Het
Plch2	T	A	4: 155,075,619 (GRCm39)	T738S	probably damaging	Het
Plekhm3	G	A	1: 64,922,367 (GRCm39)	R603W	probably damaging	Het
Pltp	A	T	2: 164,698,926 (GRCm39)		probably null	Het
Prdm4	A	G	10: 85,735,145 (GRCm39)	S666P	probably damaging	Het
Psmb3	G	T	11: 97,603,318 (GRCm39)	R177L	probably damaging	Het
Ralgapa2	A	G	2: 146,260,335 (GRCm39)	V764A	probably benign	Het
Rimoc1	T	C	15: 4,018,165 (GRCm39)	Y170C	probably damaging	Het
Rims2	T	A	15: 39,370,422 (GRCm39)	V952E	probably damaging	Het
Samd4b	G	T	7: 28,122,925 (GRCm39)	C44*	probably null	Het
Slamf8	C	A	1: 172,415,605 (GRCm39)	V78F	possibly damaging	Het
Slc35a1	A	T	4: 34,675,493 (GRCm39)	N111K	possibly damaging	Het
Slc7a5	A	T	8: 122,614,274 (GRCm39)	Y264*	probably null	Het
Srsf2	T	C	11: 116,743,120 (GRCm39)	S134G	unknown	Het
Stag1	T	A	9: 100,620,191 (GRCm39)	M98K	probably damaging	Het
Trib1	T	C	15: 59,523,562 (GRCm39)	S199P	probably damaging	Het
Txnip	T	C	3: 96,467,153 (GRCm39)	S276P	possibly damaging	Het
Vmn1r194	C	T	13: 22,428,911 (GRCm39)	T176I	not run	Het
Vmn1r222	A	G	13: 23,416,601 (GRCm39)	L204P	possibly damaging	Het
Vmn2r63	T	A	7: 42,576,466 (GRCm39)	H449L	probably benign	Het
Vmn2r83	T	A	10: 79,314,956 (GRCm39)	N401K	probably damaging	Het
Vmn2r87	T	A	10: 130,308,054 (GRCm39)	H728L	probably damaging	Het
Zfp69	G	A	4: 120,792,323 (GRCm39)	A151V	probably benign	Het
Zfp738	A	G	13: 67,831,520 (GRCm39)		probably null	Het
Zfp974	T	C	7: 27,611,110 (GRCm39)	E205G	possibly 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
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
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'- GGCATTACATGAGGGGTTTTCAAG -3'
(R):5'- TCCATCTCGAGTGGATTGCC -3'

Sequencing Primer
(F):5'- CAAGATTGATGCTCACAAGTCTTGGG -3'
(R):5'- TACCCTCAGTGGCCCATCAG -3'

Posted On

2019-11-12