Mutagenetix > Incidental Mutation

Incidental Mutation 'R7607:Tnfrsf11a'

588339

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

045677-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R7607 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105708443-105775709 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105772458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 582 (V582I)

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

probably benign
Transcript: ENSMUST00000027559
AA Change: V582I

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000027559
Gene: ENSMUSG00000026321
AA Change: V582I

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (69/70)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	A	T	11: 70,128,383 (GRCm39)	H30Q	probably damaging	Het
A930009A15Rik	G	A	10: 115,417,894 (GRCm39)		probably null	Het
Abca7	T	C	10: 79,847,667 (GRCm39)	L1779P	probably damaging	Het
Aff1	G	A	5: 103,997,325 (GRCm39)	V1140I	possibly damaging	Het
Ano2	C	T	6: 125,689,382 (GRCm39)	A169V	probably damaging	Het
Atat1	T	C	17: 36,219,999 (GRCm39)	Y101C	possibly damaging	Het
Atp6v1c1	T	C	15: 38,683,255 (GRCm39)		probably null	Het
Atp7b	T	G	8: 22,501,522 (GRCm39)	K912T	probably damaging	Het
Ceacam14	T	C	7: 17,548,246 (GRCm39)	V112A	possibly damaging	Het
Cfap107	T	A	4: 144,146,332 (GRCm39)	H107L	probably damaging	Het
Cobll1	T	C	2: 64,926,201 (GRCm39)	N1119S	probably benign	Het
Csmd1	G	T	8: 15,968,331 (GRCm39)	Q3099K	possibly damaging	Het
Cyp3a25	A	G	5: 145,921,791 (GRCm39)	V381A	possibly damaging	Het
Dctn1	C	T	6: 83,172,051 (GRCm39)	R948*	probably null	Het
Dhrs3	A	G	4: 144,650,510 (GRCm39)	T219A	probably benign	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Esrp1	A	G	4: 11,384,449 (GRCm39)	V78A	probably damaging	Het
Evc2	A	G	5: 37,544,200 (GRCm39)	T650A	possibly damaging	Het
Exoc6b	T	A	6: 84,966,391 (GRCm39)	K194N	possibly damaging	Het
Fer1l6	G	A	15: 58,534,581 (GRCm39)	W1809*	probably null	Het
Frmd4a	T	A	2: 4,596,747 (GRCm39)	L156*	probably null	Het
Gk5	A	T	9: 96,035,263 (GRCm39)		probably null	Het
Gm3573	A	G	14: 42,011,707 (GRCm39)	F8L	probably benign	Het
Gm9767	G	A	10: 25,954,838 (GRCm39)	C130Y	unknown	Het
Grip2	T	C	6: 91,765,393 (GRCm39)	T30A	probably benign	Het
Gskip	C	A	12: 105,665,156 (GRCm39)	A65E	possibly damaging	Het
Gtf2e2	A	G	8: 34,266,493 (GRCm39)	R259G	probably benign	Het
Gucy1b2	T	A	14: 62,656,626 (GRCm39)	I244F	probably damaging	Het
Gxylt2	G	T	6: 100,775,151 (GRCm39)	V357L	possibly damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Igdcc4	C	T	9: 65,041,040 (GRCm39)	P1024S	possibly damaging	Het
Ino80	A	T	2: 119,212,750 (GRCm39)		probably null	Het
Knl1	T	C	2: 118,925,614 (GRCm39)	F1881S	possibly damaging	Het
Mbd6	T	C	10: 127,121,099 (GRCm39)	E518G	unknown	Het
Mlh1	A	G	9: 111,058,958 (GRCm39)	S689P	probably damaging	Het
Mmrn2	T	C	14: 34,120,897 (GRCm39)	I589T	possibly damaging	Het
Mtmr12	C	T	15: 12,257,794 (GRCm39)	Q291*	probably null	Het
Mup8	T	A	4: 60,222,035 (GRCm39)	I33F	probably benign	Het
Mylk	C	T	16: 34,715,184 (GRCm39)	P504L	probably benign	Het
Ntrk3	C	T	7: 77,900,621 (GRCm39)	A573T	probably benign	Het
Obscn	G	T	11: 58,889,091 (GRCm39)	S7560R	unknown	Het
Or1m1	A	G	9: 18,666,178 (GRCm39)	F251S	possibly damaging	Het
Or52z12	A	C	7: 103,234,137 (GRCm39)	T303P	probably damaging	Het
Pde1c	T	C	6: 56,127,613 (GRCm39)	T391A	probably damaging	Het
Pla2g4d	T	A	2: 120,119,457 (GRCm39)	H19L	probably benign	Het
Plce1	C	A	19: 38,513,196 (GRCm39)	A165E	probably benign	Het
Polr1a	T	C	6: 71,890,005 (GRCm39)	S75P	probably benign	Het
Psg21	T	C	7: 18,388,708 (GRCm39)	E128G	probably benign	Het
Radil	A	G	5: 142,492,368 (GRCm39)	I420T	probably damaging	Het
Radil	A	T	5: 142,480,550 (GRCm39)	M635K	probably damaging	Het
Rnase11	G	A	14: 51,287,029 (GRCm39)	T175I	probably damaging	Het
Robo1	C	T	16: 72,360,626 (GRCm39)	P13S		Het
Slc18a2	C	A	19: 59,272,790 (GRCm39)	A364D	probably benign	Het
Snph	C	T	2: 151,436,506 (GRCm39)	D141N	probably damaging	Het
Snrnp70	T	C	7: 45,041,688 (GRCm39)	K70R	possibly damaging	Het
Snx33	T	C	9: 56,833,997 (GRCm39)	D24G	probably benign	Het
Spag6	T	A	2: 18,736,773 (GRCm39)	D165E	possibly damaging	Het
Spata31	T	G	13: 65,069,406 (GRCm39)	L518R	probably damaging	Het
Spata31e3	T	C	13: 50,404,296 (GRCm39)	E2G	possibly damaging	Het
Sspo	G	A	6: 48,466,661 (GRCm39)	V4059M	probably damaging	Het
St6galnac2	T	C	11: 116,570,805 (GRCm39)	Y261C	probably damaging	Het
Stoml1	A	G	9: 58,163,941 (GRCm39)	R87G	probably damaging	Het
Suv39h2	T	C	2: 3,475,866 (GRCm39)	T40A	unknown	Het
Terb2	G	T	2: 122,016,956 (GRCm39)	G26W	probably damaging	Het
Tmem62	T	C	2: 120,826,921 (GRCm39)	I406T	probably benign	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Unc13c	T	C	9: 73,576,817 (GRCm39)	D1480G	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vmn1r48	C	A	6: 90,012,962 (GRCm39)	V288L	probably benign	Het
Vmn2r13	A	G	5: 109,321,506 (GRCm39)	V397A	probably damaging	Het
Vmn2r98	A	G	17: 19,287,570 (GRCm39)	N468D	possibly damaging	Het
Zfhx2	G	T	14: 55,303,688 (GRCm39)	T1432K	possibly damaging	Het
Zswim5	T	A	4: 116,843,939 (GRCm39)	D992E	possibly damaging	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
R7169:Tnfrsf11a	UTSW	1	105,772,421 (GRCm39)	missense	possibly damaging	0.95
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
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'- TAACTCCACGTTCATCTCTAGCGG -3'
(R):5'- TGCACAGTGGCTAGCTACAC -3'

Sequencing Primer
(F):5'- TTCATCTCTAGCGGGCAGG -3'
(R):5'- GCTACACCATGTTTTTGGAAAGGC -3'

Posted On

2019-10-24