Mutagenetix > Incidental Mutation

Incidental Mutation 'R6994:Relt'

544047

Institutional Source

Beutler Lab

Gene Symbol

Relt

Ensembl Gene

ENSMUSG00000008318

Gene Name

RELT tumor necrosis factor receptor

Synonyms

Tnfrsf19l, E430021K24Rik

MMRRC Submission

045100-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R6994 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100495054-100512653 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 100502321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120042 (fasta)

Gene Model

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

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

probably benign
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

unknown
Transcript: ENSMUST00000142885
AA Change: S40A

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 benign
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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (82/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	G	4: 144,349,849 (GRCm39)	W369G	probably damaging	Het
Abhd16b	C	T	2: 181,135,461 (GRCm39)	T121M	possibly damaging	Het
Adam5	A	T	8: 25,276,262 (GRCm39)	C468*	probably null	Het
Aim2	C	T	1: 173,283,152 (GRCm39)	A78V	possibly damaging	Het
Alg9	G	A	9: 50,703,422 (GRCm39)	W254*	probably null	Het
Ankrd55	G	C	13: 112,504,834 (GRCm39)	E499Q	probably benign	Het
Atp6v0a2	T	C	5: 124,791,209 (GRCm39)	F546S	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Bpi	A	T	2: 158,100,164 (GRCm39)		probably benign	Het
Bves	A	G	10: 45,215,514 (GRCm39)	H63R	probably benign	Het
Ccdc183	T	C	2: 25,507,057 (GRCm39)	M45V	probably benign	Het
Cfhr4	T	A	1: 139,664,668 (GRCm39)	I464L	possibly damaging	Het
Cmklr1	T	C	5: 113,752,983 (GRCm39)	Y6C	probably damaging	Het
Colgalt1	C	T	8: 72,076,165 (GRCm39)	R539C	probably damaging	Het
Ctsm	T	A	13: 61,687,698 (GRCm39)	E53D	probably damaging	Het
Cyp2a22	A	G	7: 26,638,606 (GRCm39)		probably null	Het
Ddx10	A	G	9: 53,115,411 (GRCm39)	V641A	probably damaging	Het
Ddx6	T	C	9: 44,540,020 (GRCm39)	V316A	probably damaging	Het
Dhx34	T	C	7: 15,937,799 (GRCm39)	D767G	probably benign	Het
Dnaaf6rt	T	C	1: 31,261,990 (GRCm39)		probably benign	Het
Dtnbp1	T	A	13: 45,155,405 (GRCm39)	D15V	probably damaging	Het
Dtx3l	C	T	16: 35,751,742 (GRCm39)		probably null	Het
Entpd8	T	C	2: 24,973,321 (GRCm39)	I162T	probably damaging	Het
Fam186a	G	T	15: 99,840,347 (GRCm39)	Q1966K	probably benign	Het
Fbxo27	A	C	7: 28,392,785 (GRCm39)	D22A	probably damaging	Het
Fermt3	A	T	19: 6,977,095 (GRCm39)	I577N	probably damaging	Het
Frmd8	A	T	19: 5,923,209 (GRCm39)	S81T	probably damaging	Het
Gm5108	T	A	5: 68,102,012 (GRCm39)		probably benign	Het
Gm9195	T	C	14: 72,718,271 (GRCm39)	Y135C	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Kcnh8	A	T	17: 53,284,723 (GRCm39)	I898F	probably benign	Het
Kri1	C	T	9: 21,199,083 (GRCm39)		probably benign	Het
Krt32	T	A	11: 99,977,271 (GRCm39)	I210F	probably damaging	Het
Lama1	G	A	17: 68,060,820 (GRCm39)	C716Y		Het
Lamc2	G	A	1: 153,012,508 (GRCm39)	T722M	probably benign	Het
Lpin3	C	T	2: 160,746,803 (GRCm39)	P766L	probably damaging	Het
Macroh2a1	T	C	13: 56,237,643 (GRCm39)	N206D	probably benign	Het
Marf1	T	C	16: 13,946,721 (GRCm39)	T1169A	probably damaging	Het
Morc1	G	A	16: 48,385,984 (GRCm39)	V536M	probably benign	Het
Morc1	A	T	16: 48,438,909 (GRCm39)	H768L	probably benign	Het
Mpped2	T	A	2: 106,529,878 (GRCm39)	H42Q	possibly damaging	Het
Nfatc1	G	T	18: 80,696,779 (GRCm39)		probably null	Het
Nfkbid	G	A	7: 30,125,192 (GRCm39)	S263N	probably benign	Het
Npas3	C	A	12: 54,115,576 (GRCm39)	Q802K	probably damaging	Het
Or52s1b	T	C	7: 102,822,119 (GRCm39)	T242A	probably damaging	Het
Or5ac20	T	G	16: 59,104,453 (GRCm39)	M136L	possibly damaging	Het
Or5p67	T	A	7: 107,922,101 (GRCm39)	I261F	possibly damaging	Het
Pabpc4l	C	A	3: 46,401,345 (GRCm39)	V100L	possibly damaging	Het
Pagr1a	A	G	7: 126,615,613 (GRCm39)		probably null	Het
Pcdh1	A	T	18: 38,331,553 (GRCm39)	N483K	probably damaging	Het
Pikfyve	C	A	1: 65,291,689 (GRCm39)	P1303T	probably damaging	Het
Plekhh3	T	A	11: 101,056,519 (GRCm39)		probably null	Het
Pnkd	T	A	1: 74,332,335 (GRCm39)		probably null	Het
Pparg	A	T	6: 115,428,011 (GRCm39)	Q166L	probably benign	Het
Psenen	A	G	7: 30,262,932 (GRCm39)		probably null	Het
Rab4a	T	C	8: 124,557,105 (GRCm39)	S142P	probably damaging	Het
Reg3a	T	C	6: 78,358,132 (GRCm39)	V21A	probably benign	Het
Rftn1	T	A	17: 50,344,019 (GRCm39)	T90S	possibly damaging	Het
Ripor3	T	G	2: 167,839,186 (GRCm39)	D105A	probably damaging	Het
Rnase10	T	A	14: 51,247,138 (GRCm39)	I135N	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Rttn	A	G	18: 89,047,023 (GRCm39)	E895G	probably damaging	Het
Serpina3a	G	A	12: 104,079,089 (GRCm39)		probably null	Het
Slco5a1	C	T	1: 12,951,617 (GRCm39)	C562Y	probably damaging	Het
Spen	T	C	4: 141,220,770 (GRCm39)	T396A	unknown	Het
Tgfbr3	A	G	5: 107,280,892 (GRCm39)	S623P	probably damaging	Het
Tmem8b	A	G	4: 43,690,192 (GRCm39)	I876V	probably damaging	Het
Tmod3	T	C	9: 75,416,669 (GRCm39)	K221R	probably damaging	Het
Tomm40	G	T	7: 19,436,831 (GRCm39)	D40E	probably damaging	Het
Trav6d-4	G	T	14: 52,991,048 (GRCm39)	G28V	probably damaging	Het
Trav8d-2	G	T	14: 53,279,933 (GRCm39)	A17S	probably benign	Het
Triml2	T	C	8: 43,643,115 (GRCm39)	C158R	possibly damaging	Het
Trip10	A	G	17: 57,562,331 (GRCm39)	E283G	probably damaging	Het
Tubb2b	T	C	13: 34,311,518 (GRCm39)	Y425C	probably damaging	Het
Ubr1	T	C	2: 120,794,074 (GRCm39)	T37A	probably benign	Het
Unc13b	A	G	4: 43,171,403 (GRCm39)		probably benign	Het
Unc13b	A	G	4: 43,173,203 (GRCm39)		probably benign	Het
Vcan	A	T	13: 89,841,526 (GRCm39)	D379E	possibly damaging	Het
Vmn1r44	T	A	6: 89,871,140 (GRCm39)	H295Q	probably benign	Het
Vmn2r16	A	T	5: 109,487,969 (GRCm39)	S281C	probably damaging	Het
Vmn2r84	C	T	10: 130,226,876 (GRCm39)	A321T	possibly damaging	Het
Vsig10l	A	T	7: 43,114,491 (GRCm39)	H271L	possibly damaging	Het
Vwa8	A	T	14: 79,145,596 (GRCm39)	H91L	possibly damaging	Het
Zfp957	T	A	14: 79,451,130 (GRCm39)	E223V	probably 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
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
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'- GTCTGAAGGCCTTGAATTCTTCC -3'
(R):5'- CTGGCCCTAAACATGTCAGTTC -3'

Sequencing Primer
(F):5'- AGGCCTTGAATTCTTCCCAGAAGG -3'
(R):5'- GGCCCTAAACATGTCAGTTCTATTTC -3'

Posted On

2019-05-13