Mutagenetix > Incidental Mutation

Incidental Mutation 'R5226:Tnfrsf23'

402615

Institutional Source

Beutler Lab

Gene Symbol

Tnfrsf23

Ensembl Gene

ENSMUSG00000037613

Gene Name

tumor necrosis factor receptor superfamily, member 23

Synonyms

Tnfrh1, mSOB, mDcTrailr1

MMRRC Submission

042799-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R5226 (G1)

Quality Score

106

Status

Validated

Chromosome

Chromosomal Location

143219546-143239609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 143239522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 24 (L24F)

Ref Sequence

ENSEMBL: ENSMUSP00000146956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020411] [ENSMUST00000035742] [ENSMUST00000119499] [ENSMUST00000152703] [ENSMUST00000208017]

AlphaFold

Q9ER63

Predicted Effect

probably benign
Transcript: ENSMUST00000020411

SMART Domains

Protein: ENSMUSP00000020411
Gene: ENSMUSG00000037606

Domain	Start	End	E-Value	Type
PH	151	269	1.02e-14	SMART
Pfam:Oxysterol_BP	394	738	2.9e-91	PFAM
transmembrane domain	879	897	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000035742
AA Change: L24F

SMART Domains

Protein: ENSMUSP00000042431
Gene: ENSMUSG00000037613
AA Change: L24F

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
TNFR	38	72	1.55e-1	SMART
TNFR	75	104	3.12e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119499

SMART Domains

Protein: ENSMUSP00000113362
Gene: ENSMUSG00000037606

Domain	Start	End	E-Value	Type
coiled coil region	92	122	N/A	INTRINSIC
PH	127	245	1.02e-14	SMART
Pfam:Oxysterol_BP	369	724	1e-93	PFAM
transmembrane domain	855	873	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137627

Predicted Effect

probably benign
Transcript: ENSMUST00000152703
AA Change: L24F

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116742
Gene: ENSMUSG00000037613
AA Change: L24F

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
TNFR	38	72	1.55e-1	SMART
TNFR	75	114	1.29e-7	SMART
TNFR	116	155	2.14e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208017
AA Change: L24F

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208613

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: This gene encodes a member of the tumor necrosis factor superfamily of proteins. The encoded receptor has been shown to bind to the ligand TRAIL (tumor necrosis factor-related apoptosis-inducing ligand), but to have no signaling capacity. This gene shows elevated expression in mice with diet-induced fatty liver disease. This gene and other family members are present in a gene cluster on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,056,706 (GRCm39)	K98E	possibly damaging	Het
4933414I15Rik	A	T	11: 50,833,416 (GRCm39)	M62K	unknown	Het
Akr1d1	T	A	6: 37,512,949 (GRCm39)		probably null	Het
Ankrd63	T	C	2: 118,533,736 (GRCm39)		probably benign	Het
Atad5	T	C	11: 79,985,888 (GRCm39)	V325A	probably damaging	Het
Atp13a5	G	T	16: 29,067,031 (GRCm39)	N1025K	probably damaging	Het
Atrnl1	G	T	19: 57,638,767 (GRCm39)	V302L	probably benign	Het
Bend7	C	A	2: 4,757,789 (GRCm39)	S277*	probably null	Het
Btnl7-ps	A	T	17: 34,752,261 (GRCm39)		noncoding transcript	Het
Cbx4	T	C	11: 118,972,754 (GRCm39)	Y207C	probably damaging	Het
Ctla2b	C	T	13: 61,044,146 (GRCm39)	W63*	probably null	Het
Cux1	T	C	5: 136,399,027 (GRCm39)	T170A	probably benign	Het
Cyp3a57	T	C	5: 145,302,507 (GRCm39)	V101A	probably benign	Het
Dao	A	T	5: 114,159,094 (GRCm39)	T267S	probably benign	Het
Dsp	A	G	13: 38,370,746 (GRCm39)	D883G	probably damaging	Het
Dynlt4	A	G	4: 116,985,290 (GRCm39)	T38A	possibly damaging	Het
Eif4g3	C	A	4: 137,824,105 (GRCm39)	P36T	possibly damaging	Het
Elf3	G	A	1: 135,184,977 (GRCm39)	L70F	probably benign	Het
Epb41l4a	C	T	18: 33,943,366 (GRCm39)	D510N	probably damaging	Het
Gcn1	T	C	5: 115,726,126 (GRCm39)	S594P	probably benign	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Gpr132	T	C	12: 112,815,768 (GRCm39)	T353A	probably benign	Het
Kntc1	A	G	5: 123,932,235 (GRCm39)	D1343G	probably benign	Het
L3mbtl4	T	A	17: 69,071,717 (GRCm39)		probably null	Het
Lrit2	A	G	14: 36,794,310 (GRCm39)	E458G	probably damaging	Het
Man1c1	A	T	4: 134,305,680 (GRCm39)	I348N	probably damaging	Het
Map4k2	A	G	19: 6,396,534 (GRCm39)		probably benign	Het
Nt5c2	A	C	19: 46,887,068 (GRCm39)	Y203D	probably damaging	Het
Oxgr1	A	G	14: 120,259,665 (GRCm39)	S181P	probably damaging	Het
Parn	A	G	16: 13,443,416 (GRCm39)	C400R	probably benign	Het
Pcdhgb7	T	C	18: 37,885,577 (GRCm39)	V249A	probably benign	Het
Pdzrn3	C	T	6: 101,130,272 (GRCm39)	D515N	probably damaging	Het
Plcg2	A	T	8: 118,304,613 (GRCm39)	I273F	possibly damaging	Het
Plin1	A	G	7: 79,372,447 (GRCm39)	V64A	probably damaging	Het
Ppfia4	C	A	1: 134,232,024 (GRCm39)		probably null	Het
Prkg2	A	C	5: 99,124,321 (GRCm39)	D376E	possibly damaging	Het
Ptgir	T	A	7: 16,642,645 (GRCm39)	I82N	probably damaging	Het
Pum2	C	T	12: 8,763,458 (GRCm39)	P205L	possibly damaging	Het
Rab26	T	A	17: 24,753,107 (GRCm39)		probably benign	Het
Recql4	T	C	15: 76,594,329 (GRCm39)	E63G	probably benign	Het
Rora	T	A	9: 69,271,423 (GRCm39)		probably benign	Het
Rp1	A	C	1: 4,418,256 (GRCm39)	M952R	probably benign	Het
Rpap3	T	A	15: 97,601,104 (GRCm39)	R44S	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc12a2	C	A	18: 58,012,092 (GRCm39)	P72T	probably damaging	Het
Slc1a3	C	T	15: 8,671,709 (GRCm39)	V416M	probably damaging	Het
Slfn4	A	T	11: 83,078,375 (GRCm39)	M388L	possibly damaging	Het
Snrnp48	G	A	13: 38,389,093 (GRCm39)	A49T	probably benign	Het
Tlx2	C	T	6: 83,045,911 (GRCm39)	G228D	possibly damaging	Het
Tmem132a	A	G	19: 10,844,508 (GRCm39)	V30A	possibly damaging	Het
Ubr2	A	T	17: 47,294,196 (GRCm39)	N312K	probably benign	Het
Vmn1r115	C	T	7: 20,578,169 (GRCm39)	V248I	probably damaging	Het
Vmn2r80	A	G	10: 79,029,874 (GRCm39)	T567A	probably benign	Het
Vps13c	A	G	9: 67,852,835 (GRCm39)	T2372A	probably benign	Het
Wnt10b	G	T	15: 98,674,495 (GRCm39)	H81N	probably damaging	Het
Zfp948	A	G	17: 21,808,505 (GRCm39)	T566A	probably benign	Het

Other mutations in Tnfrsf23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01636:Tnfrsf23	APN	7	143,233,736 (GRCm39)	missense	probably damaging	0.99
IGL02409:Tnfrsf23	APN	7	143,222,308 (GRCm39)	missense	probably damaging	0.98
R1936:Tnfrsf23	UTSW	7	143,222,291 (GRCm39)	missense	probably benign	0.04
R3840:Tnfrsf23	UTSW	7	143,235,266 (GRCm39)	missense	probably benign	0.09
R4201:Tnfrsf23	UTSW	7	143,223,791 (GRCm39)	missense	probably damaging	1.00
R4786:Tnfrsf23	UTSW	7	143,233,801 (GRCm39)	missense	probably damaging	1.00
R4858:Tnfrsf23	UTSW	7	143,235,217 (GRCm39)	missense	probably damaging	1.00
R7687:Tnfrsf23	UTSW	7	143,235,199 (GRCm39)	missense	probably benign	0.29
R7759:Tnfrsf23	UTSW	7	143,224,572 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTCTGGACCACTTAACTCTGG -3'
(R):5'- TATTACTGAGCACTGATGGTGG -3'

Sequencing Primer
(F):5'- TGGACCACTTAACTCTGGACGAAG -3'
(R):5'- GACCCGCCCACGAGATTAG -3'

Posted On

2016-07-22