Mutagenetix > Incidental Mutation

Incidental Mutation 'R2164:Relb'

266082

Institutional Source

Beutler Lab

Gene Symbol

Relb

Ensembl Gene

ENSMUSG00000002983

Gene Name

avian reticuloendotheliosis viral (v-rel) oncogene related B

Synonyms

shep

MMRRC Submission

040167-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.931) question?

Stock #

R2164 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19340142-19363352 bp(-) (GRCm39)

Type of Mutation

splice site (4012 bp from exon)

DNA Base Change (assembly)

A to C at 19347686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049912] [ENSMUST00000094762] [ENSMUST00000098754] [ENSMUST00000098754] [ENSMUST00000141586] [ENSMUST00000208087] [ENSMUST00000153309]

AlphaFold

Q04863

Predicted Effect

probably null
Transcript: ENSMUST00000049912

SMART Domains

Protein: ENSMUSP00000050166
Gene: ENSMUSG00000002983

Domain	Start	End	E-Value	Type
low complexity region	14	27	N/A	INTRINSIC
low complexity region	73	82	N/A	INTRINSIC
Pfam:RHD	102	270	1.3e-65	PFAM
IPT	277	373	1.26e-24	SMART
low complexity region	449	464	N/A	INTRINSIC
low complexity region	478	506	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000094762

SMART Domains

Protein: ENSMUSP00000092355
Gene: ENSMUSG00000002983

Domain	Start	End	E-Value	Type
Pfam:RelB_leu_zip	1	84	1.2e-43	PFAM
Pfam:RHD_DNA_bind	105	273	3.7e-66	PFAM
IPT	280	376	1.26e-24	SMART
Pfam:RelB_transactiv	381	558	3.2e-98	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000098754

SMART Domains

Protein: ENSMUSP00000096350
Gene: ENSMUSG00000002983

Domain	Start	End	E-Value	Type
low complexity region	14	27	N/A	INTRINSIC
low complexity region	76	85	N/A	INTRINSIC
Pfam:RHD	105	273	3.7e-66	PFAM
IPT	280	376	1.26e-24	SMART
low complexity region	452	467	N/A	INTRINSIC
low complexity region	481	509	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000098754

SMART Domains

Protein: ENSMUSP00000096350
Gene: ENSMUSG00000002983

Domain	Start	End	E-Value	Type
low complexity region	14	27	N/A	INTRINSIC
low complexity region	76	85	N/A	INTRINSIC
Pfam:RHD	105	273	3.7e-66	PFAM
IPT	280	376	1.26e-24	SMART
low complexity region	452	467	N/A	INTRINSIC
low complexity region	481	509	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137615

Predicted Effect

probably null
Transcript: ENSMUST00000141586

Predicted Effect

probably benign
Transcript: ENSMUST00000208087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148040

Predicted Effect

probably null
Transcript: ENSMUST00000153309

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mutant homozygotes die prematurely with phenotypes including inflammatory cell infiltration of organs, myeloid hyperplasia, splenomegaly, reduction in thymic dendritic cells, impaired cellular immunity, hyperkeratosis, epidermal hyperplasia, or hepatitiswith mononuclear infiltration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	CTGTAGGAAATCTTCAATGT	CTGT	11: 110,101,019 (GRCm39)		probably null	Het
Adcy8	C	T	15: 64,792,783 (GRCm39)	G58S	probably benign	Het
Adgra2	T	A	8: 27,604,232 (GRCm39)	L24*	probably null	Het
Ampd2	C	A	3: 107,992,685 (GRCm39)		probably benign	Het
Ankrd26	T	G	6: 118,502,752 (GRCm39)	E806A	probably damaging	Het
Apol9b	A	G	15: 77,619,639 (GRCm39)	D145G	probably benign	Het
Ash1l	T	A	3: 88,892,726 (GRCm39)	M1535K	probably benign	Het
Atf6	A	G	1: 170,622,304 (GRCm39)	M439T	probably damaging	Het
B3glct	A	T	5: 149,677,621 (GRCm39)	M417L	probably damaging	Het
Cep192	A	T	18: 67,953,431 (GRCm39)	T483S	probably damaging	Het
Cep290	G	A	10: 100,354,657 (GRCm39)	E914K	probably damaging	Het
Chst15	C	T	7: 131,872,114 (GRCm39)	A56T	probably damaging	Het
Col27a1	A	T	4: 63,143,661 (GRCm39)	T450S	probably benign	Het
Cpsf2	A	G	12: 101,951,594 (GRCm39)	N177S	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Ctc1	C	T	11: 68,926,441 (GRCm39)	A859V	possibly damaging	Het
Dcakd	A	G	11: 102,888,183 (GRCm39)	Y134H	possibly damaging	Het
Dctn3	G	T	4: 41,723,065 (GRCm39)	Y22*	probably null	Het
Dync2h1	T	A	9: 7,124,797 (GRCm39)	D2025V	probably damaging	Het
Dync2li1	T	C	17: 84,943,702 (GRCm39)	S92P	probably damaging	Het
Eml5	A	G	12: 98,853,356 (GRCm39)	V81A	probably damaging	Het
Espl1	C	T	15: 102,228,023 (GRCm39)	R1625C	probably damaging	Het
Fam181a	T	C	12: 103,282,785 (GRCm39)	V230A	probably benign	Het
Fanci	T	A	7: 79,045,743 (GRCm39)	D28E	probably benign	Het
Fmn1	A	G	2: 113,195,962 (GRCm39)	N554S	unknown	Het
Frem2	T	C	3: 53,444,751 (GRCm39)	Y2460C	probably damaging	Het
Fscb	G	A	12: 64,520,567 (GRCm39)	P300S	probably damaging	Het
Gm28042	A	G	2: 119,867,229 (GRCm39)	D438G	probably benign	Het
Ldaf1	A	G	7: 119,719,462 (GRCm39)	E157G	possibly damaging	Het
Map1b	C	T	13: 99,565,846 (GRCm39)	V2292M	unknown	Het
Nbas	A	G	12: 13,380,647 (GRCm39)	D635G	possibly damaging	Het
Ncapg2	A	G	12: 116,414,095 (GRCm39)		probably null	Het
Nrp2	A	T	1: 62,783,514 (GRCm39)	E205V	probably damaging	Het
Pcdhb3	A	T	18: 37,435,239 (GRCm39)	T402S	possibly damaging	Het
Phc1	T	C	6: 122,299,296 (GRCm39)	N638D	possibly damaging	Het
Plcb1	A	G	2: 135,188,250 (GRCm39)	N781S	possibly damaging	Het
Prkdc	T	A	16: 15,523,071 (GRCm39)	D1164E	probably damaging	Het
Proser2	T	A	2: 6,105,506 (GRCm39)	R353W	possibly damaging	Het
Prxl2b	T	G	4: 154,982,606 (GRCm39)	Y56S	probably damaging	Het
Ptges	T	A	2: 30,782,708 (GRCm39)	T115S	probably benign	Het
Ptprk	A	T	10: 28,436,138 (GRCm39)	D833V	probably damaging	Het
Pum1	T	A	4: 130,455,394 (GRCm39)	L173*	probably null	Het
Pum1	G	T	4: 130,455,395 (GRCm39)	L269F	probably damaging	Het
Rasgrp4	A	G	7: 28,838,470 (GRCm39)	Y106C	probably damaging	Het
Rbbp6	T	A	7: 122,598,697 (GRCm39)		probably benign	Het
Rdh1	A	G	10: 127,596,041 (GRCm39)	T79A	possibly damaging	Het
Rnf122	G	A	8: 31,602,192 (GRCm39)	W6*	probably null	Het
Rnf31	A	G	14: 55,829,994 (GRCm39)	E138G	possibly damaging	Het
Scaf8	G	A	17: 3,247,485 (GRCm39)	R936Q	probably damaging	Het
Scube3	T	A	17: 28,385,108 (GRCm39)	V686D	possibly damaging	Het
Snrnp27	A	T	6: 86,653,196 (GRCm39)	C141S	probably benign	Het
Spns2	C	T	11: 72,349,497 (GRCm39)	V252M	possibly damaging	Het
Tomm40l	C	T	1: 171,047,703 (GRCm39)	S220N	probably damaging	Het
Trim17	A	G	11: 58,862,237 (GRCm39)	D423G	probably damaging	Het
Trpc6	A	AT	9: 8,610,466 (GRCm39)		probably null	Het
Tut4	G	A	4: 108,360,226 (GRCm39)	R481Q	possibly damaging	Het
Uba5	A	T	9: 103,937,442 (GRCm39)	M89K	probably damaging	Het
Vav2	T	C	2: 27,163,718 (GRCm39)	D628G	probably damaging	Het
Vmn2r107	T	C	17: 20,595,904 (GRCm39)	L819P	probably damaging	Het
Vmn2r25	A	T	6: 123,816,518 (GRCm39)	D354E	possibly damaging	Het
Xrn1	A	G	9: 95,888,873 (GRCm39)	E984G	possibly damaging	Het
Zbtb17	T	C	4: 141,191,557 (GRCm39)	V223A	probably benign	Het
Zfp592	T	C	7: 80,691,186 (GRCm39)	S1122P	possibly damaging	Het

Other mutations in Relb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Relb	APN	7	19,356,849 (GRCm39)	critical splice donor site	probably null
IGL00661:Relb	APN	7	19,350,336 (GRCm39)	missense	possibly damaging	0.92
IGL01338:Relb	APN	7	19,350,298 (GRCm39)	missense	probably benign	0.03
IGL01340:Relb	APN	7	19,350,298 (GRCm39)	missense	probably benign	0.03
IGL01341:Relb	APN	7	19,350,298 (GRCm39)	missense	probably benign	0.03
IGL01576:Relb	APN	7	19,346,526 (GRCm39)	missense	probably benign	0.07
IGL01672:Relb	APN	7	19,345,619 (GRCm39)	missense	probably benign	0.44
IGL01953:Relb	APN	7	19,349,482 (GRCm39)	critical splice donor site	probably null
IGL02792:Relb	APN	7	19,347,789 (GRCm39)	missense	probably damaging	1.00
IGL03117:Relb	APN	7	19,346,582 (GRCm39)	missense	probably damaging	1.00
R0940:Relb	UTSW	7	19,345,767 (GRCm39)	missense	probably damaging	1.00
R3878:Relb	UTSW	7	19,351,769 (GRCm39)	missense	probably damaging	1.00
R4747:Relb	UTSW	7	19,361,847 (GRCm39)	critical splice donor site	probably null
R4795:Relb	UTSW	7	19,353,764 (GRCm39)	missense	probably damaging	1.00
R4996:Relb	UTSW	7	19,349,528 (GRCm39)	missense	probably benign	0.01
R5330:Relb	UTSW	7	19,340,630 (GRCm39)	missense	possibly damaging	0.69
R7252:Relb	UTSW	7	19,346,538 (GRCm39)	nonsense	probably null
R7648:Relb	UTSW	7	19,353,767 (GRCm39)	missense	possibly damaging	0.94
R8818:Relb	UTSW	7	19,353,762 (GRCm39)	missense	probably damaging	1.00
R8836:Relb	UTSW	7	19,345,799 (GRCm39)	missense	possibly damaging	0.80
R9148:Relb	UTSW	7	19,350,276 (GRCm39)	missense	probably damaging	1.00
X0023:Relb	UTSW	7	19,346,592 (GRCm39)	missense	probably benign	0.22
X0066:Relb	UTSW	7	19,353,675 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2015-02-05