Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03037:Tnfrsf19'

408725

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnfrsf19

Ensembl Gene

ENSMUSG00000060548

Gene Name

tumor necrosis factor receptor superfamily, member 19

Synonyms

TAJ, TRADE, TAJ-ALPHA, Troy

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03037

Quality Score

Status

Chromosome

Chromosomal Location

61201324-61283939 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61261721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 26 (K26I)

Ref Sequence

ENSEMBL: ENSMUSP00000152920 (fasta)

Gene Model

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

AlphaFold

Q9JLL3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111234
AA Change: K26I

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106865
Gene: ENSMUSG00000060548
AA Change: K26I

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

possibly damaging
Transcript: ENSMUST00000111236
AA Change: K26I

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106867
Gene: ENSMUSG00000060548
AA Change: K26I

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

possibly damaging
Transcript: ENSMUST00000224371
AA Change: K26I

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225730
AA Change: K26I

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,807,294 (GRCm39)	L539P	probably damaging	Het
Adam23	A	T	1: 63,610,176 (GRCm39)	Q726L	possibly damaging	Het
Ago1	T	C	4: 126,355,587 (GRCm39)	E74G	probably benign	Het
Atp6v1d	C	A	12: 78,904,122 (GRCm39)		probably benign	Het
Bltp1	C	A	3: 37,023,356 (GRCm39)	S2227R	probably benign	Het
Bltp1	T	C	3: 37,023,357 (GRCm39)	S2229P	probably damaging	Het
Cadm4	T	A	7: 24,200,220 (GRCm39)	L243Q	probably damaging	Het
Camsap2	C	A	1: 136,202,595 (GRCm39)	L1274F	probably damaging	Het
Car10	A	G	11: 92,991,044 (GRCm39)		probably benign	Het
Catsperd	A	T	17: 56,948,583 (GRCm39)	D186V	possibly damaging	Het
Cdc42bpg	A	G	19: 6,361,230 (GRCm39)	Y285C	probably damaging	Het
Cenpi	T	A	X: 133,250,017 (GRCm39)	C599S	possibly damaging	Het
Cln8	A	T	8: 14,944,679 (GRCm39)		probably benign	Het
Cnksr1	T	C	4: 133,962,417 (GRCm39)		probably null	Het
Cripto	C	A	9: 110,772,288 (GRCm39)	W36L	probably benign	Het
Ddx5	T	C	11: 106,672,930 (GRCm39)	N532D	possibly damaging	Het
Dock11	G	T	X: 35,310,699 (GRCm39)		probably benign	Het
Dock8	A	G	19: 25,063,545 (GRCm39)	E249G	probably benign	Het
Espnl	T	C	1: 91,269,643 (GRCm39)	V393A	probably benign	Het
Fhip1b	A	T	7: 105,028,293 (GRCm39)	H885Q	probably benign	Het
Frrs1	T	C	3: 116,696,116 (GRCm39)		probably benign	Het
Fstl4	C	A	11: 53,059,050 (GRCm39)	A503D	possibly damaging	Het
Gda	T	A	19: 21,411,673 (GRCm39)	I42L	possibly damaging	Het
Gprc5d	C	A	6: 135,093,319 (GRCm39)	C196F	probably damaging	Het
Hnrnpa0	A	G	13: 58,275,767 (GRCm39)	F121L	probably damaging	Het
Hsd3b7	C	T	7: 127,400,322 (GRCm39)	H24Y	probably damaging	Het
Ift140	T	C	17: 25,311,368 (GRCm39)	S1188P	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mcemp1	C	A	8: 3,717,055 (GRCm39)	Y65*	probably null	Het
Mmp16	C	T	4: 17,996,222 (GRCm39)	P104S	probably damaging	Het
Mpst	C	A	15: 78,294,798 (GRCm39)	R177S	probably benign	Het
Nek1	A	T	8: 61,487,086 (GRCm39)	T279S	probably benign	Het
Or1q1	C	T	2: 36,887,560 (GRCm39)	T246I	probably benign	Het
Or1x2	A	T	11: 50,918,117 (GRCm39)	Y96F	probably damaging	Het
Or4c11b	A	G	2: 88,625,299 (GRCm39)	Y191C	probably damaging	Het
Or7g18	T	A	9: 18,786,668 (GRCm39)	I12N	probably damaging	Het
Pard3	A	T	8: 128,032,975 (GRCm39)	T190S	probably benign	Het
Pik3r4	A	G	9: 105,528,012 (GRCm39)	D455G	probably damaging	Het
Piwil4	T	C	9: 14,616,308 (GRCm39)	I756V	possibly damaging	Het
Pkhd1	A	G	1: 20,592,923 (GRCm39)	L1730P	probably benign	Het
Pnpla3	T	C	15: 84,056,960 (GRCm39)	I155T	probably damaging	Het
Prmt8	T	C	6: 127,680,940 (GRCm39)	Y243C	possibly damaging	Het
Rbfox1	T	A	16: 7,110,147 (GRCm39)		probably benign	Het
Rps6ka2	G	A	17: 7,521,849 (GRCm39)		probably null	Het
Scaf8	A	G	17: 3,240,496 (GRCm39)	K623E	probably damaging	Het
Slc26a4	A	T	12: 31,581,686 (GRCm39)		probably benign	Het
Slfn8	T	A	11: 82,894,078 (GRCm39)	I854F	probably damaging	Het
Smarca4	T	C	9: 21,544,231 (GRCm39)		probably benign	Het
Sos1	T	C	17: 80,727,758 (GRCm39)	D775G	probably damaging	Het
Spag17	G	A	3: 99,979,486 (GRCm39)		probably null	Het
Spata31d1d	T	A	13: 59,873,947 (GRCm39)	E1196V	possibly damaging	Het
Sqle	T	A	15: 59,193,246 (GRCm39)	Y208N	probably damaging	Het
Tcl1b5	C	T	12: 105,145,273 (GRCm39)	T79M	probably benign	Het
Tenm3	A	G	8: 48,751,913 (GRCm39)	F959L	possibly damaging	Het
Trappc10	A	T	10: 78,034,869 (GRCm39)		probably benign	Het
Trim80	T	C	11: 115,332,419 (GRCm39)	W204R	possibly damaging	Het
Trpm3	A	G	19: 22,866,776 (GRCm39)	T536A	possibly damaging	Het
Ttbk1	G	A	17: 46,757,256 (GRCm39)	T1126I	probably benign	Het
Uaca	A	G	9: 60,748,147 (GRCm39)	D37G	probably damaging	Het
Ube3a	T	C	7: 58,896,971 (GRCm39)		probably benign	Het
Ubqln2	C	T	X: 152,282,692 (GRCm39)	Q415*	probably null	Het
Ugp2	T	A	11: 21,282,540 (GRCm39)	K151*	probably null	Het
Wasf1	A	G	10: 40,806,654 (GRCm39)	K99R	probably benign	Het
Wnt4	C	T	4: 137,016,472 (GRCm39)	T42M	possibly damaging	Het
Zfp54	T	A	17: 21,650,477 (GRCm39)	D17E	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
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
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

Posted On

2016-08-02