Mutagenetix > Incidental Mutation

Incidental Mutation 'R0384:Relt'

31171

Institutional Source

Beutler Lab

Gene Symbol

Relt

Ensembl Gene

ENSMUSG00000008318

Gene Name

RELT tumor necrosis factor receptor

Synonyms

Tnfrsf19l, E430021K24Rik

MMRRC Submission

038590-MU

Accession Numbers

Essential gene?

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

Stock #

R0384 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

100495054-100512653 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100496712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 385 (D385G)

Ref Sequence

ENSEMBL: ENSMUSP00000008462 (fasta)

Gene Model

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

AlphaFold

Q8BX43

Predicted Effect

probably benign
Transcript: ENSMUST00000008462
AA Change: D385G

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000008462
Gene: ENSMUSG00000008318
AA Change: D385G

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

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

0.0658

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (72/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	T	A	7: 139,566,725 (GRCm39)		probably benign	Het
Akr1b8	T	C	6: 34,341,265 (GRCm39)		probably benign	Het
Arhgef39	A	G	4: 43,498,613 (GRCm39)	L117P	probably damaging	Het
Atp13a1	A	T	8: 70,249,974 (GRCm39)	Q356L	possibly damaging	Het
Bmp2k	T	A	5: 97,178,984 (GRCm39)		probably benign	Het
Ccdc141	A	G	2: 76,857,992 (GRCm39)	V1063A	probably damaging	Het
Col20a1	T	C	2: 180,640,955 (GRCm39)	Y568H	probably benign	Het
Crabp2	T	C	3: 87,860,328 (GRCm39)	V134A	possibly damaging	Het
Cyp19a1	T	C	9: 54,080,025 (GRCm39)	K265E	probably benign	Het
Cyp2j9	T	C	4: 96,474,122 (GRCm39)	H106R	probably benign	Het
Dcps	T	C	9: 35,087,239 (GRCm39)	K9R	probably damaging	Het
Dnajc6	C	T	4: 101,456,153 (GRCm39)	T47I	probably damaging	Het
Dnhd1	T	G	7: 105,369,321 (GRCm39)	S4315A	possibly damaging	Het
Dnmt3l	A	T	10: 77,888,571 (GRCm39)	I158F	possibly damaging	Het
Dock3	A	G	9: 106,779,094 (GRCm39)		probably benign	Het
Eefsec	A	G	6: 88,258,632 (GRCm39)		probably null	Het
Fam204a	T	C	19: 60,209,728 (GRCm39)	M1V	probably null	Het
Fam98b	T	C	2: 117,098,328 (GRCm39)	V266A	possibly damaging	Het
Fat2	A	T	11: 55,160,291 (GRCm39)	I3274N	possibly damaging	Het
Fbh1	A	G	2: 11,754,389 (GRCm39)	I198T	probably damaging	Het
Fer	T	C	17: 64,231,179 (GRCm39)		probably benign	Het
Fhad1	T	A	4: 141,729,737 (GRCm39)	M89L	probably benign	Het
Fjx1	C	A	2: 102,281,452 (GRCm39)	C161F	probably damaging	Het
Fkbp7	T	A	2: 76,496,168 (GRCm39)		probably benign	Het
Gm42669	T	A	5: 107,656,664 (GRCm39)	C976S	probably benign	Het
Gm4845	T	C	1: 141,184,823 (GRCm39)		noncoding transcript	Het
Herc1	T	A	9: 66,388,332 (GRCm39)		probably benign	Het
Hook3	C	T	8: 26,534,263 (GRCm39)		probably null	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Itga2b	A	T	11: 102,356,188 (GRCm39)		probably null	Het
Klk1b21	T	C	7: 43,754,917 (GRCm39)	Y71H	probably benign	Het
Kndc1	A	T	7: 139,490,515 (GRCm39)	N339I	possibly damaging	Het
Ky	C	T	9: 102,419,289 (GRCm39)	T432I	probably benign	Het
Map4	C	T	9: 109,863,696 (GRCm39)	T307I	probably damaging	Het
Matn1	T	C	4: 130,671,787 (GRCm39)	L18P	probably benign	Het
Mindy4	G	A	6: 55,193,669 (GRCm39)	D121N	probably damaging	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Msto1	G	A	3: 88,817,646 (GRCm39)	Q441*	probably null	Het
Muc5ac	A	G	7: 141,365,988 (GRCm39)	H2048R	possibly damaging	Het
Musk	T	C	4: 58,373,711 (GRCm39)	*879Q	probably null	Het
Nat8f2	T	C	6: 85,845,350 (GRCm39)	Y4C	possibly damaging	Het
Ncaph2	T	A	15: 89,253,594 (GRCm39)	I282N	probably benign	Het
Nid1	A	G	13: 13,638,421 (GRCm39)	T114A	probably benign	Het
Npr1	C	A	3: 90,372,474 (GRCm39)	G113C	probably damaging	Het
Nrxn1	G	A	17: 90,515,775 (GRCm39)	P193S	probably damaging	Het
Nwd2	T	C	5: 63,963,025 (GRCm39)	F870L	probably benign	Het
Or10h1b	A	G	17: 33,395,522 (GRCm39)	I45V	probably damaging	Het
Or4c122	A	G	2: 89,079,414 (GRCm39)	I208T	possibly damaging	Het
Or6c5c	T	A	10: 129,298,909 (GRCm39)	Y121*	probably null	Het
Or8k30	T	A	2: 86,339,727 (GRCm39)	I308K	possibly damaging	Het
Phf14	A	G	6: 11,997,019 (GRCm39)		probably benign	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Prdm2	T	C	4: 142,862,258 (GRCm39)	E344G	probably benign	Het
Psmd12	T	C	11: 107,376,547 (GRCm39)	V61A	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scg2	T	A	1: 79,413,266 (GRCm39)	I446F	probably benign	Het
Sema3b	G	A	9: 107,478,165 (GRCm39)	L407F	probably damaging	Het
Slc25a13	A	T	6: 6,042,600 (GRCm39)	Y601*	probably null	Het
Sun5	C	T	2: 153,700,885 (GRCm39)	V270I	probably benign	Het
Tex52	A	G	6: 128,356,496 (GRCm39)	Y63C	probably damaging	Het
Tmem138	A	G	19: 10,552,186 (GRCm39)		probably benign	Het
Tnpo3	A	G	6: 29,582,163 (GRCm39)		probably null	Het
Tspoap1	A	T	11: 87,657,280 (GRCm39)	Q364L	probably damaging	Het
Ttc41	T	C	10: 86,599,811 (GRCm39)	L1037P	probably damaging	Het
Ugcg	T	A	4: 59,220,387 (GRCm39)	D393E	possibly damaging	Het
Vmn1r184	T	C	7: 25,967,076 (GRCm39)	I274T	probably benign	Het
Vmn2r27	A	G	6: 124,200,871 (GRCm39)	V362A	probably benign	Het
Vmn2r87	T	A	10: 130,307,712 (GRCm39)	Y842F	probably benign	Het
Vps8	T	A	16: 21,325,575 (GRCm39)		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
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
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'- TTTCACTTAGCCGGACCACATAGC -3'
(R):5'- ATTGCAGGGTGACCTAGTAGGAGC -3'

Sequencing Primer
(F):5'- GACCACATAGCGGTTCTCCTG -3'
(R):5'- CCTAGTAGGAGCTGCCTTCTTTG -3'

Posted On

2013-04-24