Mutagenetix > Incidental Mutation

Incidental Mutation 'R1582:Relt'

171472

Institutional Source

Beutler Lab

Gene Symbol

Relt

Ensembl Gene

ENSMUSG00000008318

Gene Name

RELT tumor necrosis factor receptor

Synonyms

Tnfrsf19l, E430021K24Rik

MMRRC Submission

039619-MU

Accession Numbers

Essential gene?

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

Stock #

R1582 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100495054-100512653 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 100500560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008462] [ENSMUST00000136231] [ENSMUST00000139604] [ENSMUST00000139604] [ENSMUST00000142885] [ENSMUST00000155413] [ENSMUST00000156855] [ENSMUST00000156855]

AlphaFold

Q8BX43

Predicted Effect

probably null
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 null
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

probably null
Transcript: ENSMUST00000139604

SMART Domains

Protein: ENSMUSP00000119208
Gene: ENSMUSG00000008318

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

Predicted Effect

probably null
Transcript: ENSMUST00000139604

SMART Domains

Protein: ENSMUSP00000119208
Gene: ENSMUSG00000008318

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142885

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

Predicted Effect

probably null
Transcript: ENSMUST00000156855

SMART Domains

Protein: ENSMUSP00000120042
Gene: ENSMUSG00000008318

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

Predicted Effect

probably null
Transcript: ENSMUST00000156855

SMART Domains

Protein: ENSMUSP00000120042
Gene: ENSMUSG00000008318

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

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.6%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	C	G	2: 31,690,371 (GRCm39)	A630G	probably damaging	Het
Actr3	A	G	1: 125,333,662 (GRCm39)	Y202H	probably benign	Het
Adamts19	A	G	18: 59,103,013 (GRCm39)	N685D	probably damaging	Het
Atl3	A	G	19: 7,494,264 (GRCm39)	T138A	probably damaging	Het
Bpifa2	T	C	2: 153,855,638 (GRCm39)	S188P	probably damaging	Het
Bsn	T	C	9: 107,982,291 (GRCm39)	T3821A	unknown	Het
Dcun1d2	A	G	8: 13,330,926 (GRCm39)	L68P	probably damaging	Het
Ddhd1	A	T	14: 45,842,566 (GRCm39)	L630I	probably damaging	Het
Ddx25	T	C	9: 35,457,272 (GRCm39)	T348A	probably damaging	Het
Dtnb	C	T	12: 3,823,554 (GRCm39)	T580M	possibly damaging	Het
Dysf	A	G	6: 84,074,749 (GRCm39)	S561G	probably damaging	Het
Ehbp1l1	A	G	19: 5,771,995 (GRCm39)	I101T	possibly damaging	Het
Erich3	T	C	3: 154,469,960 (GRCm39)		probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam135a	T	C	1: 24,068,398 (GRCm39)	T611A	probably damaging	Het
Gpbp1	T	C	13: 111,573,066 (GRCm39)		probably null	Het
H2-Oa	A	T	17: 34,313,695 (GRCm39)	T218S	probably damaging	Het
Kctd19	G	A	8: 106,122,092 (GRCm39)	L152F	probably damaging	Het
Kdm5b	T	A	1: 134,552,591 (GRCm39)	M1189K	probably damaging	Het
Kif13a	A	G	13: 46,947,398 (GRCm39)	V862A	probably benign	Het
Lct	T	C	1: 128,228,299 (GRCm39)	T1065A	probably damaging	Het
Mark3	G	A	12: 111,621,744 (GRCm39)	A697T	probably benign	Het
Mosmo	A	G	7: 120,329,728 (GRCm39)	I116M	possibly damaging	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Muc15	A	T	2: 110,567,817 (GRCm39)	M321L	probably benign	Het
Naa25	T	A	5: 121,572,892 (GRCm39)	N670K	probably benign	Het
Or1e1c	T	A	11: 73,266,090 (GRCm39)	C172S	probably damaging	Het
Or5e1	G	T	7: 108,354,317 (GRCm39)	V85L	probably benign	Het
Or6z3	A	G	7: 6,463,813 (GRCm39)	M102V	probably benign	Het
Ppara	T	C	15: 85,682,429 (GRCm39)	I375T	possibly damaging	Het
Prss27	A	G	17: 24,263,877 (GRCm39)	I188V	probably benign	Het
Rbms1	A	T	2: 60,589,179 (GRCm39)	M287K	possibly damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Sec24a	A	G	11: 51,599,794 (GRCm39)	V837A	probably benign	Het
Smarca2	G	A	19: 26,729,305 (GRCm39)	D19N	probably damaging	Het
Sorbs2	G	A	8: 46,258,814 (GRCm39)	G620D	probably damaging	Het
Spata31d1c	C	A	13: 65,181,038 (GRCm39)	Q46K	probably benign	Het
Spata6	C	G	4: 111,637,992 (GRCm39)	S274*	probably null	Het
Spata6	C	T	4: 111,637,994 (GRCm39)	P275S	probably benign	Het
Tas2r108	T	A	6: 40,470,566 (GRCm39)	V14D	probably benign	Het
Thbs2	G	T	17: 14,891,550 (GRCm39)	P996T	probably damaging	Het
Tmem131l	T	C	3: 83,839,090 (GRCm39)	Q620R	probably damaging	Het
Ubap2l	A	G	3: 89,941,978 (GRCm39)	S203P	probably damaging	Het
Unc45b	G	A	11: 82,816,771 (GRCm39)	G404S	probably benign	Het
Uri1	A	G	7: 37,664,811 (GRCm39)	S292P	possibly damaging	Het
Usp21	A	T	1: 171,110,655 (GRCm39)	C444S	probably damaging	Het
Vmn1r117	A	T	7: 20,617,484 (GRCm39)	V188D	possibly damaging	Het
Vmn1r7	T	C	6: 57,002,143 (GRCm39)	D39G	probably damaging	Het
Wdr25	T	C	12: 108,863,980 (GRCm39)	F42L	possibly damaging	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
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
R8551:Relt	UTSW	7	100,512,409 (GRCm39)	intron	probably benign
R8829:Relt	UTSW	7	100,499,479 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGGAACATGGCTGACACGGAAC -3'
(R):5'- AAGAGCCTGACCCAGTGAGTGATG -3'

Sequencing Primer
(F):5'- AACATGAGGAACTCCCTGTG -3'
(R):5'- GATGTGCTGTCCTGTCCCG -3'

Posted On

2014-04-13