Mutagenetix > Incidental Mutation

Incidental Mutation 'R8979:Tnfrsf11a'

683609

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

068812-MU

Accession Numbers

Essential gene?

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

Stock #

R8979 (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 G at 105754825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 299 (D299G)

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: D299G

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027559
Gene: ENSMUSG00000026321
AA Change: D299G

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: 99.1%

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
Aadacl2	A	C	3: 59,932,545 (GRCm39)	R353S	probably damaging	Het
Ablim3	C	T	18: 61,982,397 (GRCm39)	V183I	probably benign	Het
Adgrb3	T	A	1: 25,527,115 (GRCm39)	Q607L	probably benign	Het
Adgrl1	A	G	8: 84,665,015 (GRCm39)	D1234G	probably benign	Het
Alms1	A	G	6: 85,598,009 (GRCm39)	Y945C	probably damaging	Het
Arhgef26	T	A	3: 62,246,969 (GRCm39)	W18R	possibly damaging	Het
Caskin1	G	T	17: 24,717,899 (GRCm39)	A229S	possibly damaging	Het
Celsr1	A	T	15: 85,847,340 (GRCm39)	S1466T	probably damaging	Het
Cftr	T	C	6: 18,227,947 (GRCm39)	Y380H	probably benign	Het
Ciapin1	A	T	8: 95,549,753 (GRCm39)	L301Q	probably damaging	Het
Clec1b	A	G	6: 129,380,537 (GRCm39)	E151G	probably benign	Het
Cngb1	G	A	8: 96,004,913 (GRCm39)		probably benign	Het
Cntln	T	A	4: 85,048,910 (GRCm39)	V240E	probably damaging	Het
Cog5	A	G	12: 31,840,894 (GRCm39)	T240A	probably benign	Het
Col5a3	G	A	9: 20,686,597 (GRCm39)	P1343S	unknown	Het
Cspp1	T	A	1: 10,134,630 (GRCm39)	S127T	probably benign	Het
Dnah9	T	G	11: 65,895,978 (GRCm39)	M2466L	probably benign	Het
Fbn2	C	T	18: 58,286,928 (GRCm39)	G244R	probably damaging	Het
Fbxw13	A	T	9: 109,013,197 (GRCm39)	W247R	probably damaging	Het
Gbp4	G	A	5: 105,267,248 (GRCm39)	T557M	probably benign	Het
Ide	G	A	19: 37,302,711 (GRCm39)	A133V		Het
Il2rb	C	A	15: 78,376,052 (GRCm39)		probably benign	Het
Itgb1	A	G	8: 129,448,951 (GRCm39)	E519G	probably benign	Het
Kifc1	A	G	17: 34,102,228 (GRCm39)	Y462H	possibly damaging	Het
Krt1	A	G	15: 101,755,340 (GRCm39)	F473S	probably benign	Het
Llgl1	C	T	11: 60,601,129 (GRCm39)	A689V	probably benign	Het
Lrrc37a	C	A	11: 103,393,833 (GRCm39)	V531L	possibly damaging	Het
Mid1	C	G	X: 168,768,003 (GRCm39)	P384A	probably benign	Het
Mid1	G	A	X: 168,768,009 (GRCm39)	A386T	probably benign	Het
Mms22l	C	T	4: 24,580,070 (GRCm39)	L760F	probably benign	Het
Mplkipl1	A	G	19: 61,164,169 (GRCm39)	Y89H	probably damaging	Het
Mst1r	C	T	9: 107,792,478 (GRCm39)	R951C	probably damaging	Het
Naalad2	G	A	9: 18,242,146 (GRCm39)	T586M	probably damaging	Het
Or4c108	C	T	2: 88,804,173 (GRCm39)	V21I	probably benign	Het
Oxct2b	A	G	4: 123,011,169 (GRCm39)	N363S	probably benign	Het
Padi6	T	G	4: 140,466,474 (GRCm39)	N145T	probably benign	Het
Plcl2	T	A	17: 50,947,145 (GRCm39)	M1008K	possibly damaging	Het
Plekha5	T	C	6: 140,496,818 (GRCm39)	S435P	probably damaging	Het
Prkacb	C	A	3: 146,518,411 (GRCm39)	G10C	probably benign	Het
Psg29	A	T	7: 16,937,544 (GRCm39)		probably benign	Het
Ptpn4	T	C	1: 119,671,120 (GRCm39)	T213A	probably damaging	Het
Ptpro	A	G	6: 137,345,140 (GRCm39)	I49V	probably benign	Het
Rassf1	A	G	9: 107,429,004 (GRCm39)	D70G	probably benign	Het
Rbm24	A	T	13: 46,572,531 (GRCm39)	T9S	probably damaging	Het
Rp1	T	C	1: 4,218,937 (GRCm39)	T948A	unknown	Het
Ryr2	A	T	13: 11,609,924 (GRCm39)	C4301S	probably benign	Het
S100pbp	T	C	4: 129,076,133 (GRCm39)	D64G	probably damaging	Het
Samd3	A	G	10: 26,120,428 (GRCm39)	K141E	possibly damaging	Het
Scgb1b29	A	T	7: 32,141,277 (GRCm39)	K65*	probably null	Het
Shoc1	T	C	4: 59,047,276 (GRCm39)	T1448A	possibly damaging	Het
Slc51b	T	C	9: 65,320,210 (GRCm39)	N86D	probably benign	Het
Slc6a3	G	A	13: 73,715,720 (GRCm39)	V452I	probably benign	Het
Sobp	A	G	10: 42,896,976 (GRCm39)		probably null	Het
Spats2	T	C	15: 99,110,123 (GRCm39)	S507P	possibly damaging	Het
Spns3	C	T	11: 72,420,416 (GRCm39)	A357T	probably damaging	Het
Suox	A	T	10: 128,507,367 (GRCm39)	H220Q	probably damaging	Het
Tbc1d9b	A	T	11: 50,061,809 (GRCm39)	S1106C	probably benign	Het
Tbx1	T	C	16: 18,406,745 (GRCm39)	D9G	unknown	Het
Tcaf2	A	T	6: 42,601,404 (GRCm39)	F885Y	probably damaging	Het
Tgoln1	T	C	6: 72,593,262 (GRCm39)	T73A	probably benign	Het
Tigd3	G	A	19: 5,941,853 (GRCm39)	P426S	probably benign	Het
Tmem233	T	A	5: 116,221,260 (GRCm39)		probably benign	Het
Trim32	T	C	4: 65,531,692 (GRCm39)	V83A	possibly damaging	Het
Unc13a	A	T	8: 72,113,125 (GRCm39)	M242K	probably benign	Het
Vat1	C	T	11: 101,353,041 (GRCm39)	G293D	probably damaging	Het
Vmn1r174	T	A	7: 23,453,892 (GRCm39)	V186D	possibly damaging	Het
Wdfy3	A	G	5: 102,096,764 (GRCm39)	Y345H	probably damaging	Het
Zzef1	C	T	11: 72,766,003 (GRCm39)	T1510I	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
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
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
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'- CTTGCCAGGGTGGAAACAGTTC -3'
(R):5'- CTGGATTAGGAGCAGTGAACC -3'

Sequencing Primer
(F):5'- CCAGGGTGGAAACAGTTCATATTTTC -3'
(R):5'- TTAGGAGCAGTGAACCAGTCG -3'

Posted On

2021-10-11