Mutagenetix > Incidental Mutation

Incidental Mutation 'R7047:Tnfrsf19'

547386

Institutional Source

Beutler Lab

Gene Symbol

Tnfrsf19

Ensembl Gene

ENSMUSG00000060548

Gene Name

tumor necrosis factor receptor superfamily, member 19

Synonyms

TAJ, TRADE, TAJ-ALPHA, Troy

MMRRC Submission

045145-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61201324-61283939 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 61242667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 72 (C72*)

Ref Sequence

ENSEMBL: ENSMUSP00000152920 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111234] [ENSMUST00000111236] [ENSMUST00000224371] [ENSMUST00000225730]

AlphaFold

Q9JLL3

Predicted Effect

probably null
Transcript: ENSMUST00000111234
AA Change: C72*

SMART Domains

Protein: ENSMUSP00000106865
Gene: ENSMUSG00000060548
AA Change: C72*

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
TNFR	34	72	1.75e0	SMART
TNFR	75	114	3.32e-1	SMART
transmembrane domain	169	191	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000111236
AA Change: C72*

SMART Domains

Protein: ENSMUSP00000106867
Gene: ENSMUSG00000060548
AA Change: C72*

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
TNFR	34	72	1.75e0	SMART
TNFR	75	114	3.32e-1	SMART
transmembrane domain	169	191	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000224371
AA Change: C72*

Predicted Effect

probably null
Transcript: ENSMUST00000225730
AA Change: C72*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (53/54)

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 highly expressed during embryonic development. It has been shown to interact with TRAF family members, and to activate JNK signaling pathway when overexpressed in cells. This receptor is capable of inducing apoptosis by a caspase-independent mechanism, and it is thought to play an essential role in embryonic development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit no obvious physical abnormalities or alterations in behavior, locomotion, or fecundity, however neurons are more resistant to the suppressive action of myelin inhibitors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,382,131 (GRCm39)	I1278N	possibly damaging	Het
Adcy5	T	A	16: 35,087,585 (GRCm39)	L482Q	probably damaging	Het
Adora2a	A	G	10: 75,162,145 (GRCm39)	I95V	probably damaging	Het
Anapc1	A	C	2: 128,457,350 (GRCm39)	C1887G	probably damaging	Het
Arfgef2	T	A	2: 166,693,865 (GRCm39)		probably null	Het
Capn11	G	T	17: 45,949,622 (GRCm39)	S448*	probably null	Het
Capn7	C	T	14: 31,058,642 (GRCm39)		probably benign	Het
Cep55	T	A	19: 38,048,539 (GRCm39)	V65D	possibly damaging	Het
Col5a1	A	G	2: 27,818,096 (GRCm39)	K107R	unknown	Het
Dbh	T	A	2: 27,055,622 (GRCm39)	I32N	possibly damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dzip3	A	T	16: 48,802,489 (GRCm39)	N13K	probably benign	Het
Emilin1	A	G	5: 31,074,422 (GRCm39)	N221S	probably benign	Het
Ext2	A	G	2: 93,570,002 (GRCm39)	F470L	probably damaging	Het
Filip1	T	A	9: 79,760,916 (GRCm39)	Q206L	probably damaging	Het
Garin1b	T	A	6: 29,323,809 (GRCm39)	L178H	probably damaging	Het
Gpr63	G	T	4: 25,007,320 (GRCm39)	A15S	probably benign	Het
Grhl3	T	C	4: 135,276,551 (GRCm39)		probably null	Het
Hspa5	C	T	2: 34,663,204 (GRCm39)	P127L	probably damaging	Het
Ift172	G	T	5: 31,433,238 (GRCm39)	Y193*	probably null	Het
Ints1	A	C	5: 139,744,226 (GRCm39)	L1512*	probably null	Het
Kat2b	A	G	17: 53,970,597 (GRCm39)	Q661R	probably benign	Het
Kat6a	A	G	8: 23,428,554 (GRCm39)	N1303S	possibly damaging	Het
L3mbtl4	G	T	17: 68,768,561 (GRCm39)	R223L	probably benign	Het
Maml2	T	C	9: 13,532,177 (GRCm39)		probably benign	Het
Mixl1	A	G	1: 180,524,183 (GRCm39)		probably null	Het
Mocs1	T	C	17: 49,759,887 (GRCm39)		probably null	Het
Ms4a15	T	G	19: 10,962,236 (GRCm39)	N36T	probably damaging	Het
Msr1	G	A	8: 40,095,657 (GRCm39)	T2I	possibly damaging	Het
Nlgn1	A	C	3: 25,490,199 (GRCm39)	Y509*	probably null	Het
Nsmce1	C	A	7: 125,090,606 (GRCm39)	G4C	probably benign	Het
Or4c113	A	T	2: 88,885,490 (GRCm39)	F93L	probably damaging	Het
Or51v15-ps1	A	G	7: 103,278,918 (GRCm39)	V83A	probably damaging	Het
Pan3	G	A	5: 147,483,175 (GRCm39)	G452D	probably damaging	Het
Pcyox1	G	T	6: 86,365,891 (GRCm39)	P441H	probably damaging	Het
Phf12	T	C	11: 77,904,099 (GRCm39)	V273A	probably damaging	Het
Plcd4	A	G	1: 74,591,148 (GRCm39)	E181G	possibly damaging	Het
Ptgfr	A	T	3: 151,541,178 (GRCm39)	I110N	possibly damaging	Het
Rab40c	A	C	17: 26,138,458 (GRCm39)	V8G	probably damaging	Het
Rasal3	T	A	17: 32,615,458 (GRCm39)	Y460F	probably damaging	Het
Rhbdf2	A	G	11: 116,494,477 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,839,286 (GRCm39)	N496Y	possibly damaging	Het
Sacs	A	T	14: 61,450,451 (GRCm39)	I4166F	probably damaging	Het
Sh2d3c	T	C	2: 32,611,172 (GRCm39)	M1T	probably null	Het
Smarca2	C	T	19: 26,646,555 (GRCm39)	S651L	possibly damaging	Het
Sned1	A	T	1: 93,213,540 (GRCm39)	R1204S	possibly damaging	Het
Spata31d1b	T	C	13: 59,860,249 (GRCm39)	Y41H	probably damaging	Het
Stab2	C	T	10: 86,694,016 (GRCm39)	C2075Y	probably damaging	Het
Tcte1	A	T	17: 45,844,294 (GRCm39)	Q90L	possibly damaging	Het
Tll2	C	T	19: 41,074,679 (GRCm39)	G945S	probably damaging	Het
Tmbim7	A	T	5: 3,720,112 (GRCm39)	T116S	probably benign	Het
Usp17le	T	A	7: 104,417,640 (GRCm39)	T501S	probably benign	Het
Wnt5b	T	A	6: 119,425,217 (GRCm39)		probably benign	Het

Other mutations in Tnfrsf19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Tnfrsf19	APN	14	61,261,631 (GRCm39)	missense	possibly damaging	0.53
IGL01564:Tnfrsf19	APN	14	61,212,058 (GRCm39)	missense	possibly damaging	0.85
IGL01878:Tnfrsf19	APN	14	61,234,093 (GRCm39)	missense	probably damaging	0.98
IGL02220:Tnfrsf19	APN	14	61,210,941 (GRCm39)	unclassified	probably benign
IGL02378:Tnfrsf19	APN	14	61,208,451 (GRCm39)	missense	probably benign	0.00
IGL02546:Tnfrsf19	APN	14	61,210,987 (GRCm39)	missense	possibly damaging	0.86
IGL02583:Tnfrsf19	APN	14	61,261,659 (GRCm39)	missense	probably damaging	0.98
IGL03037:Tnfrsf19	APN	14	61,261,721 (GRCm39)	missense	possibly damaging	0.83
IGL03221:Tnfrsf19	APN	14	61,262,227 (GRCm39)	missense	probably benign	0.06
R0241:Tnfrsf19	UTSW	14	61,211,041 (GRCm39)	missense	possibly damaging	0.93
R0373:Tnfrsf19	UTSW	14	61,209,485 (GRCm39)	missense	possibly damaging	0.47
R1521:Tnfrsf19	UTSW	14	61,242,555 (GRCm39)	missense	probably damaging	0.99
R3038:Tnfrsf19	UTSW	14	61,209,512 (GRCm39)	missense	probably benign
R4346:Tnfrsf19	UTSW	14	61,209,429 (GRCm39)	critical splice donor site	probably null
R4997:Tnfrsf19	UTSW	14	61,208,658 (GRCm39)	missense	probably benign
R5756:Tnfrsf19	UTSW	14	61,262,224 (GRCm39)	missense	probably benign
R5869:Tnfrsf19	UTSW	14	61,208,627 (GRCm39)	missense	possibly damaging	0.70
R6110:Tnfrsf19	UTSW	14	61,208,588 (GRCm39)	missense	probably benign	0.08
R7266:Tnfrsf19	UTSW	14	61,212,147 (GRCm39)	missense	possibly damaging	0.91
R7491:Tnfrsf19	UTSW	14	61,242,654 (GRCm39)	missense	possibly damaging	0.75
R7729:Tnfrsf19	UTSW	14	61,212,183 (GRCm39)	missense	possibly damaging	0.70
R7936:Tnfrsf19	UTSW	14	61,208,382 (GRCm39)	missense	probably benign	0.22
R8358:Tnfrsf19	UTSW	14	61,208,634 (GRCm39)	missense	probably benign	0.25
R8535:Tnfrsf19	UTSW	14	61,208,417 (GRCm39)	missense	probably benign	0.25
R8693:Tnfrsf19	UTSW	14	61,208,451 (GRCm39)	missense	probably benign
R9028:Tnfrsf19	UTSW	14	61,242,650 (GRCm39)	missense	probably benign	0.26
R9468:Tnfrsf19	UTSW	14	61,261,623 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AAAGAGAAGTCATGGCCCTAC -3'
(R):5'- AAAGTGGATTGCTAAGGACCC -3'

Sequencing Primer
(F):5'- GAGAAGTCATGGCCCTACTCACC -3'
(R):5'- ATTGCTAAGGACCCTTGCG -3'

Posted On

2019-05-13