Mutagenetix > Incidental Mutation

Incidental Mutation 'R0033:Tnfrsf12a'

15259

Institutional Source

Beutler Lab

Gene Symbol

Tnfrsf12a

Ensembl Gene

ENSMUSG00000023905

Gene Name

tumor necrosis factor receptor superfamily, member 12a

Synonyms

Fn14, TweakR, TWEAK-R

MMRRC Submission

038327-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.484) question?

Stock #

R0033 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

23894419-23896423 bp(-) (GRCm39)

Type of Mutation

splice site (918 bp from exon)

DNA Base Change (assembly)

A to G at 23895119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024697] [ENSMUST00000024698] [ENSMUST00000024699] [ENSMUST00000047436] [ENSMUST00000095579] [ENSMUST00000115489] [ENSMUST00000115490] [ENSMUST00000167059] [ENSMUST00000180140] [ENSMUST00000138190] [ENSMUST00000179928]

AlphaFold

Q9CR75

Predicted Effect

probably null
Transcript: ENSMUST00000024697

SMART Domains

Protein: ENSMUSP00000024697
Gene: ENSMUSG00000023904

Domain	Start	End	E-Value	Type
Pfam:HPIP	2	116	7e-72	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000024698
AA Change: F110L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024698
Gene: ENSMUSG00000023905
AA Change: F110L

Domain	Start	End	E-Value	Type
Pfam:stn_TNFRSF12A	1	129	4.7e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000024699

SMART Domains

Protein: ENSMUSP00000024699
Gene: ENSMUSG00000023906

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	181	2.5e-35	PFAM
Pfam:Claudin_2	15	183	1.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000047436

SMART Domains

Protein: ENSMUSP00000038137
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	13	51	2e-18	BLAST
WD40	65	101	2.67e-1	SMART
Blast:WD40	119	154	1e-11	BLAST
WD40	157	196	1.28e-6	SMART
Blast:WD40	200	245	2e-25	BLAST
WD40	248	284	7.36e1	SMART
low complexity region	294	305	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095579

SMART Domains

Protein: ENSMUSP00000093239
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	13	51	2e-18	BLAST
WD40	65	101	2.67e-1	SMART
Blast:WD40	119	154	1e-11	BLAST
WD40	157	196	1.28e-6	SMART
Blast:WD40	200	245	2e-25	BLAST
WD40	248	284	7.36e1	SMART
low complexity region	294	305	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115489

SMART Domains

Protein: ENSMUSP00000111152
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	11	47	6e-18	BLAST
WD40	61	97	2.67e-1	SMART
Blast:WD40	115	150	8e-12	BLAST
WD40	153	192	1.28e-6	SMART
Blast:WD40	196	241	3e-25	BLAST
WD40	244	280	7.36e1	SMART
low complexity region	290	301	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115490

SMART Domains

Protein: ENSMUSP00000111153
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	13	51	7e-19	BLAST
WD40	65	101	2.67e-1	SMART
Blast:WD40	119	154	6e-12	BLAST
WD40	157	196	1.28e-6	SMART
Blast:WD40	200	245	8e-26	BLAST
Blast:WD40	248	279	4e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000167059
AA Change: F75L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131574
Gene: ENSMUSG00000023905
AA Change: F75L

Domain	Start	End	E-Value	Type
Pfam:stn_TNFRSF12A	1	35	2.9e-13	PFAM
Pfam:stn_TNFRSF12A	32	94	1.1e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133849

Predicted Effect

probably null
Transcript: ENSMUST00000180140

SMART Domains

Protein: ENSMUSP00000137336
Gene: ENSMUSG00000023904

Domain	Start	End	E-Value	Type
Pfam:HPIP	2	116	2.9e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138190

SMART Domains

Protein: ENSMUSP00000123075
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	13	51	6e-20	BLAST
WD40	65	101	2.67e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000179928

SMART Domains

Protein: ENSMUSP00000137205
Gene: ENSMUSG00000023904

Domain	Start	End	E-Value	Type
Pfam:HPIP	2	112	3.3e-69	PFAM

Meta Mutation Damage Score

0.1744

Coding Region Coverage

1x: 80.0%
3x: 71.7%
10x: 49.2%
20x: 29.7%

Validation Efficiency

96% (74/77)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit significantly reduced liver progenitor ("oval") cell proliferation in response to chemically-induced liver injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agr3	C	T	12: 35,978,329 (GRCm39)	T14M	possibly damaging	Het
Aldh9a1	T	C	1: 167,184,140 (GRCm39)	S212P	probably damaging	Het
Ank2	T	A	3: 126,898,397 (GRCm39)		probably benign	Het
Cdkn3	C	A	14: 47,006,329 (GRCm39)	Y141*	probably null	Het
Ceacam12	T	G	7: 17,803,385 (GRCm39)		probably benign	Het
Celf1	T	C	2: 90,831,798 (GRCm39)		probably benign	Het
Col6a3	A	G	1: 90,729,967 (GRCm39)	S1780P	probably damaging	Het
Cpxm2	T	C	7: 131,663,886 (GRCm39)	I346V	possibly damaging	Het
Csf3r	A	G	4: 125,925,677 (GRCm39)	T151A	probably benign	Het
Ctss	G	A	3: 95,452,888 (GRCm39)		probably benign	Het
Erp44	T	C	4: 48,241,289 (GRCm39)		probably benign	Het
Hibch	A	G	1: 52,944,610 (GRCm39)	K296R	probably null	Het
Katnip	T	G	7: 125,360,999 (GRCm39)	V103G	possibly damaging	Het
Kirrel3	A	G	9: 34,912,259 (GRCm39)	I208V	probably benign	Het
Lrrc8a	G	T	2: 30,145,357 (GRCm39)	C57F	probably damaging	Het
Ltbp1	A	G	17: 75,583,504 (GRCm39)	N435D	possibly damaging	Het
Myo16	A	T	8: 10,420,955 (GRCm39)	Y265F	probably damaging	Het
Nckap5	A	G	1: 125,867,979 (GRCm39)		probably benign	Het
Nlrp12	A	C	7: 3,289,037 (GRCm39)	S492A	probably damaging	Het
Pwwp2b	A	T	7: 138,834,844 (GRCm39)	D95V	possibly damaging	Het
Rarg	T	A	15: 102,147,270 (GRCm39)	I372F	probably damaging	Het
Snrnp200	T	C	2: 127,079,983 (GRCm39)	I1920T	probably damaging	Het
Sv2b	A	G	7: 74,767,489 (GRCm39)	F636L	probably benign	Het
Thra	G	A	11: 98,655,178 (GRCm39)	V353I	probably benign	Het
Tm7sf2	A	G	19: 6,116,452 (GRCm39)		probably benign	Het
Tmx4	A	T	2: 134,442,918 (GRCm39)		probably null	Het
Uba5	T	A	9: 103,931,347 (GRCm39)	T241S	probably benign	Het
Zfp420	A	G	7: 29,573,987 (GRCm39)	D69G	probably benign	Het
Zfp64	A	T	2: 168,767,635 (GRCm39)	I659N	possibly damaging	Het

Other mutations in Tnfrsf12a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0033:Tnfrsf12a	UTSW	17	23,895,119 (GRCm39)	splice site	probably null
R8822:Tnfrsf12a	UTSW	17	23,895,188 (GRCm39)	missense	probably benign	0.00
R9454:Tnfrsf12a	UTSW	17	23,895,491 (GRCm39)	critical splice donor site	probably null

Posted On

2012-12-17