Mutagenetix > Incidental Mutation

Incidental Mutation 'R8551:Relt'

659864

Institutional Source

Beutler Lab

Gene Symbol

Relt

Ensembl Gene

ENSMUSG00000008318

Gene Name

RELT tumor necrosis factor receptor

Synonyms

Tnfrsf19l, E430021K24Rik

MMRRC Submission

068516-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

R8551 (G1)

Quality Score

224.009

Status

Not validated

Chromosome

Chromosomal Location

100495054-100512653 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 100512409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008462] [ENSMUST00000136231] [ENSMUST00000142885] [ENSMUST00000155413]

AlphaFold

Q8BX43

Predicted Effect

probably benign
Transcript: ENSMUST00000008462

SMART Domains

Protein: ENSMUSP00000008462
Gene: ENSMUSG00000008318

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
TNFR	58	97	2e-4	SMART
low complexity region	132	138	N/A	INTRINSIC
Pfam:RELT	170	209	1.8e-21	PFAM
coiled coil region	233	255	N/A	INTRINSIC
low complexity region	273	289	N/A	INTRINSIC
low complexity region	313	336	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136231

SMART Domains

Protein: ENSMUSP00000121443
Gene: ENSMUSG00000008318

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
TNFR	58	97	2e-4	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000142885
AA Change: Q9R

Predicted Effect

probably benign
Transcript: ENSMUST00000155413

SMART Domains

Protein: ENSMUSP00000118150
Gene: ENSMUSG00000008318

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
TNFR	58	97	2e-4	SMART
low complexity region	132	138	N/A	INTRINSIC
Pfam:RELT	170	218	1.4e-20	PFAM
low complexity region	285	309	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (39/40)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is especially abundant in hematologic tissues. It has been shown to activate the NF-kappaB pathway and selectively bind TNF receptor-associated factor 1 (TRAF1). This receptor is capable of stimulating T-cell proliferation in the presence of CD3 signaling, which suggests its regulatory role in immune response. Two alternatively spliced transcript variants of this gene encoding the same protein have been reported. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	G	A	7: 82,189,678 (GRCm39)	R634H	probably benign	Het
Birc6	T	G	17: 74,864,949 (GRCm39)	S236R	probably benign	Het
Dnah12	T	A	14: 26,496,227 (GRCm39)	I1493K	probably damaging	Het
Dnah7b	T	C	1: 46,155,360 (GRCm39)	S303P	possibly damaging	Het
Eri2	A	T	7: 119,387,062 (GRCm39)		probably null	Het
Erlec1	C	A	11: 30,881,829 (GRCm39)	C467F	probably damaging	Het
Exph5	A	G	9: 53,285,351 (GRCm39)	T811A	possibly damaging	Het
Galr1	T	A	18: 82,424,191 (GRCm39)	I29F	probably benign	Het
Gata3	C	A	2: 9,867,994 (GRCm39)	C320F	probably damaging	Het
Ggnbp2	A	T	11: 84,732,351 (GRCm39)	Y247*	probably null	Het
Gnao1	A	G	8: 94,682,735 (GRCm39)	Q307R	probably damaging	Het
Hbp1	T	C	12: 31,980,709 (GRCm39)	T465A	probably damaging	Het
Liph	C	G	16: 21,800,158 (GRCm39)	G152R	probably damaging	Het
Lrguk	T	C	6: 34,093,446 (GRCm39)	S656P	probably damaging	Het
Lyrm4	T	A	13: 36,163,844 (GRCm39)	N85I	probably benign	Het
Lyst	T	A	13: 13,808,645 (GRCm39)	I105N	possibly damaging	Het
Maml3	T	C	3: 51,764,488 (GRCm39)	T159A	probably benign	Het
Man1c1	A	T	4: 134,430,326 (GRCm39)	L152*	probably null	Het
Map3k20	T	G	2: 72,232,704 (GRCm39)		probably benign	Het
Mthfsl	G	T	9: 88,570,943 (GRCm39)	R102S	possibly damaging	Het
Myo3a	T	A	2: 22,337,277 (GRCm39)	S391R	probably benign	Het
Naa50	A	G	16: 43,979,996 (GRCm39)	D128G	probably benign	Het
Nlrp14	C	T	7: 106,782,359 (GRCm39)	R519C	possibly damaging	Het
Or5b119	A	G	19: 13,457,109 (GRCm39)	I151T	possibly damaging	Het
Or6d14	G	T	6: 116,534,289 (GRCm39)	R301L	probably damaging	Het
Oxtr	T	C	6: 112,465,939 (GRCm39)	K274E	probably damaging	Het
Prkn	A	G	17: 11,286,103 (GRCm39)	K32R	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Ryr2	T	A	13: 11,575,479 (GRCm39)	I4840F	possibly damaging	Het
Sccpdh	T	A	1: 179,509,013 (GRCm39)	Y27N	probably damaging	Het
Slc7a5	A	G	8: 122,613,050 (GRCm39)	S343P	probably damaging	Het
Snrnp200	A	G	2: 127,068,971 (GRCm39)	D950G	probably benign	Het
Stk38	A	G	17: 29,207,199 (GRCm39)	Y115H	probably damaging	Het
Tas2r116	T	C	6: 132,832,993 (GRCm39)	V198A	probably benign	Het
Tfap2d	A	G	1: 19,175,024 (GRCm39)	D159G	probably benign	Het
Trim69	A	G	2: 122,003,810 (GRCm39)	D253G	probably benign	Het
Trpv4	A	T	5: 114,768,900 (GRCm39)	F359I	possibly damaging	Het
Twist1	C	T	12: 34,008,103 (GRCm39)	R43W	unknown	Het
Usp19	A	T	9: 108,376,496 (GRCm39)	E1026V	possibly damaging	Het
Virma	A	G	4: 11,513,397 (GRCm39)	Y417C	probably damaging	Het
Zfp735	A	G	11: 73,603,122 (GRCm39)	I689V	probably benign	Het

Other mutations in Relt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Relt	APN	7	100,500,905 (GRCm39)	missense	probably damaging	1.00
IGL01958:Relt	APN	7	100,500,350 (GRCm39)	missense	probably benign	0.16
ANU22:Relt	UTSW	7	100,500,905 (GRCm39)	missense	probably damaging	1.00
P4717OSA:Relt	UTSW	7	100,496,788 (GRCm39)	missense	probably damaging	1.00
R0026:Relt	UTSW	7	100,499,428 (GRCm39)	nonsense	probably null
R0384:Relt	UTSW	7	100,496,712 (GRCm39)	missense	probably benign	0.26
R0437:Relt	UTSW	7	100,497,991 (GRCm39)	unclassified	probably benign
R0626:Relt	UTSW	7	100,498,023 (GRCm39)	missense	probably damaging	1.00
R1582:Relt	UTSW	7	100,500,560 (GRCm39)	critical splice donor site	probably null
R1802:Relt	UTSW	7	100,499,401 (GRCm39)	missense	probably damaging	0.98
R5977:Relt	UTSW	7	100,512,355 (GRCm39)	intron	probably benign
R6924:Relt	UTSW	7	100,496,468 (GRCm39)	missense	probably damaging	1.00
R6994:Relt	UTSW	7	100,502,321 (GRCm39)	splice site	probably benign
R7403:Relt	UTSW	7	100,500,655 (GRCm39)	missense	probably damaging	1.00
R8829:Relt	UTSW	7	100,499,479 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

Posted On

2021-01-18