Mutagenetix > Incidental Mutation

Incidental Mutation 'R8693:Tnfrsf19'

668526

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

068547-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8693 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61201324-61283939 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61208451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 357 (T357A)

Ref Sequence

ENSEMBL: ENSMUSP00000106865 (fasta)

Gene Model

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

AlphaFold

Q9JLL3

Predicted Effect

probably benign
Transcript: ENSMUST00000111234
AA Change: T357A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106865
Gene: ENSMUSG00000060548
AA Change: T357A

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 benign
Transcript: ENSMUST00000111236
AA Change: T357A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106867
Gene: ENSMUSG00000060548
AA Change: T357A

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 benign
Transcript: ENSMUST00000224371

Predicted Effect

probably benign
Transcript: ENSMUST00000225730

Coding Region Coverage

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

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 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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,810,474 (GRCm39)	S924P	probably benign	Het
Acacb	A	G	5: 114,364,844 (GRCm39)	H1508R	probably damaging	Het
Adam34	T	C	8: 44,104,641 (GRCm39)	M335V	probably benign	Het
Akap8	A	T	17: 32,529,625 (GRCm39)	N438K	probably damaging	Het
Alpi	C	A	1: 87,026,405 (GRCm39)	G529C	unknown	Het
Arhgap30	T	C	1: 171,225,094 (GRCm39)	V50A	probably damaging	Het
Armh1	T	C	4: 117,088,960 (GRCm39)	E145G	probably damaging	Het
Ccdc177	A	G	12: 80,804,582 (GRCm39)	L564P	unknown	Het
Cdk12	C	T	11: 98,141,133 (GRCm39)	P1458L	unknown	Het
Chek1	A	G	9: 36,625,140 (GRCm39)	F314L	probably benign	Het
Cndp1	T	C	18: 84,646,938 (GRCm39)	D250G	probably damaging	Het
Cnot3	T	C	7: 3,656,522 (GRCm39)	V239A	probably benign	Het
Cplane1	T	C	15: 8,258,492 (GRCm39)	M2246T	probably benign	Het
Crhr2	A	G	6: 55,079,779 (GRCm39)	F187S	possibly damaging	Het
Dchs2	T	A	3: 83,192,631 (GRCm39)	V1692D	probably damaging	Het
Dctd	T	A	8: 48,565,046 (GRCm39)	I57N	probably damaging	Het
Dennd5b	A	T	6: 148,911,272 (GRCm39)	L977*	probably null	Het
Dhrs13	G	C	11: 77,923,492 (GRCm39)	R70P	possibly damaging	Het
Dysf	T	C	6: 84,088,952 (GRCm39)	S865P	probably damaging	Het
Eif2ak3	A	T	6: 70,858,535 (GRCm39)	I275F	possibly damaging	Het
Eif2ak4	T	A	2: 118,262,718 (GRCm39)	I757N	probably damaging	Het
Exog	A	G	9: 119,276,108 (GRCm39)	Q110R	possibly damaging	Het
Fbxl4	T	C	4: 22,403,704 (GRCm39)	C426R	probably benign	Het
Fndc11	A	C	2: 180,863,864 (GRCm39)	H223P	probably damaging	Het
Frmd3	T	A	4: 74,080,286 (GRCm39)	S334R	probably damaging	Het
Galnt14	A	T	17: 73,833,257 (GRCm39)	I239N	probably damaging	Het
Gm5930	C	T	14: 44,576,015 (GRCm39)	M1I	probably null	Het
Igkv4-63	A	G	6: 69,355,051 (GRCm39)	S77P	probably benign	Het
Igkv5-48	G	A	6: 69,703,779 (GRCm39)	S42F	probably damaging	Het
Kalrn	T	A	16: 33,854,884 (GRCm39)	Y1992F	probably damaging	Het
Kmt2a	T	C	9: 44,721,981 (GRCm39)	Y3788C	unknown	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lpo	T	C	11: 87,700,066 (GRCm39)	N525S	probably benign	Het
Med1	T	C	11: 98,046,599 (GRCm39)	H1399R	unknown	Het
Mga	T	A	2: 119,794,407 (GRCm39)	V2697E	possibly damaging	Het
Msto1	T	C	3: 88,819,184 (GRCm39)	T188A	probably benign	Het
Nrap	T	C	19: 56,310,384 (GRCm39)	H1456R	probably damaging	Het
Or10d1	G	T	9: 39,483,800 (GRCm39)	P252T	probably damaging	Het
Pbld1	A	T	10: 62,910,890 (GRCm39)	K248*	probably null	Het
Pcdhb12	G	A	18: 37,570,474 (GRCm39)	R540H	probably benign	Het
Pcx	G	T	19: 4,652,039 (GRCm39)	A96S	probably damaging	Het
Plcb1	A	G	2: 135,094,696 (GRCm39)	I174V	probably benign	Het
Psme3	T	C	11: 101,211,422 (GRCm39)	I193T	probably damaging	Het
Pygl	A	T	12: 70,244,180 (GRCm39)	M587K	probably benign	Het
Rph3a	A	T	5: 121,100,501 (GRCm39)	H132Q	probably damaging	Het
Scrib	C	A	15: 75,936,354 (GRCm39)	D501Y	probably damaging	Het
Sdad1	C	A	5: 92,452,857 (GRCm39)	R127L	probably benign	Het
Setdb1	T	C	3: 95,249,041 (GRCm39)	T356A	probably damaging	Het
Sh3bgrl3	T	C	4: 133,855,116 (GRCm39)	D73G	probably benign	Het
Sipa1l1	G	T	12: 82,216,517 (GRCm39)		probably benign	Het
Slc17a8	G	A	10: 89,428,758 (GRCm39)	A261V	probably benign	Het
Sox6	T	A	7: 115,261,632 (GRCm39)	I195F	probably damaging	Het
Syne1	T	C	10: 5,090,928 (GRCm39)	K809E	possibly damaging	Het
Tmem30c	G	A	16: 57,086,855 (GRCm39)	T316M	probably damaging	Het
Top2a	T	A	11: 98,900,868 (GRCm39)	T574S	probably damaging	Het
Trappc3l	G	A	10: 33,974,917 (GRCm39)	C133Y	probably damaging	Het
Unk	C	T	11: 115,938,640 (GRCm39)	T81I	probably damaging	Het
Vamp1	G	A	6: 125,217,388 (GRCm39)	R144K	unknown	Het
Wnt9b	T	C	11: 103,624,487 (GRCm39)	N101S	probably damaging	Het
Wwtr1	T	A	3: 57,369,945 (GRCm39)	D390V	probably damaging	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
R7047:Tnfrsf19	UTSW	14	61,242,667 (GRCm39)	nonsense	probably null
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
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'- GAATGGAGTTTGGTCCCCTC -3'
(R):5'- GCGCTGAATTTTCTGATGCC -3'

Sequencing Primer
(F):5'- GCTCATGTTGAAAGCCATTGC -3'
(R):5'- CTGGCCTCTGATGCAGAATC -3'

Posted On

2021-04-30