Mutagenetix > Incidental Mutation

Incidental Mutation 'R7169:Tnfrsf11a'

558094

Institutional Source

Beutler Lab

Gene Symbol

Tnfrsf11a

Ensembl Gene

ENSMUSG00000026321

Gene Name

tumor necrosis factor receptor superfamily, member 11a, NFKB activator

Synonyms

TRANCE-R, Rank

MMRRC Submission

045229-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R7169 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105708443-105775709 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105772421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 569 (R569S)

Ref Sequence

ENSEMBL: ENSMUSP00000027559 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027559]

AlphaFold

O35305

PDB Structure

Crystal structure of mouse RANKL-RANK complex [X-RAY DIFFRACTION]
Crystal structure of mouse RANK [X-RAY DIFFRACTION]
Crystal structure of extracellular domains of mouse RANK-RANKL complex [X-RAY DIFFRACTION]
Crystal Structure of mouse RANK bound to RANKL [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027559
AA Change: R569S

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027559
Gene: ENSMUSG00000026321
AA Change: R569S

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
TNFR	35	69	1.48e-7	SMART
TNFR	72	113	2.59e-3	SMART
TNFR	115	152	4.28e-4	SMART
TNFR	155	195	5.27e-4	SMART
transmembrane domain	212	234	N/A	INTRINSIC
low complexity region	300	313	N/A	INTRINSIC
low complexity region	495	511	N/A	INTRINSIC
low complexity region	543	558	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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 receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out or spontaneous allele exhibit a failure of tooth eruption, osteopetrosis, and abnormal immune system morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	A	G	10: 61,040,707 (GRCm39)	V870A	probably damaging	Het
Ahi1	T	G	10: 20,930,918 (GRCm39)	D919E	probably damaging	Het
Angptl6	T	A	9: 20,786,475 (GRCm39)	R390S	probably damaging	Het
Arhgef11	A	G	3: 87,634,755 (GRCm39)	I873V	possibly damaging	Het
BC024063	T	C	10: 81,946,293 (GRCm39)	Y638H	possibly damaging	Het
Brsk1	T	C	7: 4,718,403 (GRCm39)	S751P	probably benign	Het
Calhm5	T	A	10: 33,968,160 (GRCm39)	T298S	probably damaging	Het
Cdh20	G	A	1: 104,875,078 (GRCm39)	A287T	possibly damaging	Het
Clic3	G	A	2: 25,348,731 (GRCm39)	R237H	probably benign	Het
Cog6	G	T	3: 52,897,387 (GRCm39)	P562H	possibly damaging	Het
Csnk2a2	A	G	8: 96,215,006 (GRCm39)	Y24H		Het
Ctif	T	C	18: 75,605,087 (GRCm39)	D484G	probably damaging	Het
Cyria	A	G	12: 12,409,233 (GRCm39)	D71G	possibly damaging	Het
Dennd6b	A	T	15: 89,073,055 (GRCm39)	F161I	possibly damaging	Het
Dnah14	G	T	1: 181,529,930 (GRCm39)	V2235L	probably benign	Het
Dnah6	A	T	6: 73,015,729 (GRCm39)	V3636D	probably damaging	Het
Dpm1	A	T	2: 168,053,343 (GRCm39)	Y207*	probably null	Het
Eml3	A	G	19: 8,910,828 (GRCm39)	T227A	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Eppk1	C	A	15: 75,990,114 (GRCm39)	A2256S	probably benign	Het
Etnppl	A	T	3: 130,414,345 (GRCm39)	N80I	probably damaging	Het
Eya4	A	T	10: 23,031,845 (GRCm39)	N236K	probably benign	Het
Gm12886	T	G	4: 121,273,948 (GRCm39)	Q89H	probably damaging	Het
Gsdme	T	C	6: 50,204,358 (GRCm39)	T200A	probably benign	Het
Hipk1	C	T	3: 103,651,533 (GRCm39)	A1122T	probably benign	Het
Icos	A	G	1: 61,034,705 (GRCm39)	D176G	probably damaging	Het
Igkv5-43	T	A	6: 69,800,519 (GRCm39)	Y56F	probably damaging	Het
Il1r1	T	C	1: 40,332,519 (GRCm39)		probably null	Het
Ildr2	G	A	1: 166,135,503 (GRCm39)		probably null	Het
Ilf3	T	A	9: 21,306,722 (GRCm39)	H305Q	probably damaging	Het
Insrr	A	G	3: 87,715,901 (GRCm39)	H532R	probably benign	Het
Lmbr1l	CACTACATACTACATACTACATACTACATACTACATACTACATAC	CACTACATACTACATACTACATACTACATACTACATACTACATACTACATAC	15: 98,807,039 (GRCm39)		probably null	Het
Lmbr1l	ACTACAT	ACTACATGCTACAT	15: 98,807,075 (GRCm39)		probably benign	Het
Lratd1	A	G	12: 14,200,619 (GRCm39)	F36S	probably damaging	Het
Lrrc25	T	G	8: 71,070,437 (GRCm39)	S73A	probably benign	Het
Lrrn1	T	C	6: 107,544,565 (GRCm39)	L121P	probably damaging	Het
Ly6c1	C	A	15: 74,916,495 (GRCm39)	V116L	probably benign	Het
Meltf	A	G	16: 31,698,980 (GRCm39)	D30G	probably benign	Het
Mroh7	T	A	4: 106,548,836 (GRCm39)	D1009V	probably damaging	Het
Mybpc3	T	C	2: 90,948,524 (GRCm39)	V4A	possibly damaging	Het
Mycbp2	A	G	14: 103,497,636 (GRCm39)	S979P	possibly damaging	Het
Ntn5	C	T	7: 45,336,198 (GRCm39)	R210*	probably null	Het
Nuak1	T	C	10: 84,210,609 (GRCm39)	D493G	probably damaging	Het
Oprk1	T	A	1: 5,659,304 (GRCm39)	D11E	probably benign	Het
Or13a1	G	T	6: 116,471,025 (GRCm39)	A152S	probably benign	Het
Or4f14	A	G	2: 111,742,939 (GRCm39)	M112T	possibly damaging	Het
Or4k37	T	A	2: 111,158,943 (GRCm39)	Y60N	probably damaging	Het
Or56a41	T	C	7: 104,740,397 (GRCm39)	I150V	possibly damaging	Het
Pkd1l2	T	A	8: 117,767,574 (GRCm39)	T1239S	possibly damaging	Het
Pkm	A	G	9: 59,578,908 (GRCm39)	D296G	possibly damaging	Het
Pof1b	A	G	X: 111,554,042 (GRCm39)	I544T	probably benign	Het
Pop5	T	A	5: 115,378,287 (GRCm39)	V77E	possibly damaging	Het
Ppp1r10	T	C	17: 36,240,365 (GRCm39)	S552P	probably damaging	Het
Rabggta	C	G	14: 55,958,358 (GRCm39)	R101P	probably damaging	Het
Rorc	A	T	3: 94,296,487 (GRCm39)	E243V	probably benign	Het
Setmar	C	A	6: 108,042,049 (GRCm39)	A3E	possibly damaging	Het
Skor2	T	A	18: 76,948,681 (GRCm39)	V801E	probably benign	Het
Slc12a7	G	A	13: 73,932,679 (GRCm39)	V56M	probably benign	Het
Snph	T	A	2: 151,436,307 (GRCm39)	N207I	probably damaging	Het
Snx14	A	G	9: 88,280,362 (GRCm39)	V531A	probably damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tlr3	A	T	8: 45,850,056 (GRCm39)	M871K	probably damaging	Het
Trim66	A	G	7: 109,054,328 (GRCm39)	V1294A	probably benign	Het
Vldlr	G	A	19: 27,221,728 (GRCm39)	V698I	probably benign	Het
Vmn2r73	G	A	7: 85,507,663 (GRCm39)	Q550*	probably null	Het
Zdhhc5	A	T	2: 84,532,675 (GRCm39)		probably null	Het
Zfhx3	T	A	8: 109,678,030 (GRCm39)	Y3027N	possibly damaging	Het
Zfp663	C	T	2: 165,194,359 (GRCm39)	S620N	probably benign	Het

Other mutations in Tnfrsf11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01137:Tnfrsf11a	APN	1	105,737,147 (GRCm39)	missense	possibly damaging	0.80
IGL02429:Tnfrsf11a	APN	1	105,755,443 (GRCm39)	missense	probably benign	0.14
IGL03222:Tnfrsf11a	APN	1	105,749,215 (GRCm39)	missense	probably damaging	1.00
IGL03276:Tnfrsf11a	APN	1	105,749,215 (GRCm39)	missense	probably damaging	1.00
PIT4354001:Tnfrsf11a	UTSW	1	105,749,242 (GRCm39)	missense	probably damaging	1.00
R0321:Tnfrsf11a	UTSW	1	105,772,583 (GRCm39)	nonsense	probably null
R0514:Tnfrsf11a	UTSW	1	105,754,717 (GRCm39)	missense	probably damaging	1.00
R0655:Tnfrsf11a	UTSW	1	105,735,880 (GRCm39)	missense	unknown
R1470:Tnfrsf11a	UTSW	1	105,752,773 (GRCm39)	missense	probably damaging	0.96
R1470:Tnfrsf11a	UTSW	1	105,752,773 (GRCm39)	missense	probably damaging	0.96
R1868:Tnfrsf11a	UTSW	1	105,772,431 (GRCm39)	missense	probably damaging	1.00
R2900:Tnfrsf11a	UTSW	1	105,754,786 (GRCm39)	missense	probably benign	0.03
R3418:Tnfrsf11a	UTSW	1	105,737,130 (GRCm39)	missense	possibly damaging	0.84
R3816:Tnfrsf11a	UTSW	1	105,737,085 (GRCm39)	missense	probably damaging	0.96
R3817:Tnfrsf11a	UTSW	1	105,737,085 (GRCm39)	missense	probably damaging	0.96
R3818:Tnfrsf11a	UTSW	1	105,737,085 (GRCm39)	missense	probably damaging	0.96
R3819:Tnfrsf11a	UTSW	1	105,737,085 (GRCm39)	missense	probably damaging	0.96
R3879:Tnfrsf11a	UTSW	1	105,737,085 (GRCm39)	missense	probably damaging	0.96
R4037:Tnfrsf11a	UTSW	1	105,755,464 (GRCm39)	splice site	probably null
R4039:Tnfrsf11a	UTSW	1	105,755,464 (GRCm39)	splice site	probably null
R4238:Tnfrsf11a	UTSW	1	105,754,962 (GRCm39)	missense	probably damaging	1.00
R5708:Tnfrsf11a	UTSW	1	105,741,545 (GRCm39)	splice site	probably null
R6102:Tnfrsf11a	UTSW	1	105,747,671 (GRCm39)	missense	possibly damaging	0.62
R6910:Tnfrsf11a	UTSW	1	105,772,272 (GRCm39)	missense	probably damaging	1.00
R7178:Tnfrsf11a	UTSW	1	105,755,264 (GRCm39)	missense	probably benign	0.04
R7293:Tnfrsf11a	UTSW	1	105,735,866 (GRCm39)	critical splice acceptor site	probably null
R7323:Tnfrsf11a	UTSW	1	105,772,456 (GRCm39)	missense	probably damaging	1.00
R7334:Tnfrsf11a	UTSW	1	105,754,854 (GRCm39)	missense	possibly damaging	0.92
R7607:Tnfrsf11a	UTSW	1	105,772,458 (GRCm39)	missense	probably benign	0.02
R7614:Tnfrsf11a	UTSW	1	105,755,094 (GRCm39)	missense	probably damaging	1.00
R7651:Tnfrsf11a	UTSW	1	105,737,171 (GRCm39)	missense	probably damaging	1.00
R7908:Tnfrsf11a	UTSW	1	105,737,099 (GRCm39)	missense	probably damaging	1.00
R8078:Tnfrsf11a	UTSW	1	105,745,409 (GRCm39)	missense	probably damaging	1.00
R8364:Tnfrsf11a	UTSW	1	105,745,412 (GRCm39)	missense	probably damaging	0.99
R8859:Tnfrsf11a	UTSW	1	105,772,244 (GRCm39)	critical splice acceptor site	probably null
R8979:Tnfrsf11a	UTSW	1	105,754,825 (GRCm39)	missense	possibly damaging	0.78
R9008:Tnfrsf11a	UTSW	1	105,754,854 (GRCm39)	missense	possibly damaging	0.92
R9016:Tnfrsf11a	UTSW	1	105,754,854 (GRCm39)	missense	possibly damaging	0.92
R9017:Tnfrsf11a	UTSW	1	105,754,854 (GRCm39)	missense	possibly damaging	0.92
R9052:Tnfrsf11a	UTSW	1	105,754,854 (GRCm39)	missense	possibly damaging	0.92
Z1177:Tnfrsf11a	UTSW	1	105,754,724 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTGTAGCTCTGATTGTAATCC -3'
(R):5'- ATTCTGCACATTGTCCGGAC -3'

Sequencing Primer
(F):5'- AATCCATAATGCAGTTTCTCTGTGC -3'
(R):5'- CCCCTGGGTATGGAGTGAAGTC -3'

Posted On

2019-06-26