Mutagenetix > Incidental Mutations

Incidental Mutation 'R4989:Thbs3'

386006

Institutional Source

Beutler Lab

Gene Symbol

Thbs3

Ensembl Gene

ENSMUSG00000028047

Gene Name

thrombospondin 3

Synonyms

Thbs-3, TSP3

MMRRC Submission

042583-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.767) question?

Stock #

R4989 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

89215180-89226837 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

CAGAAG to CAG at 89223102 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029682] [ENSMUST00000119084] [ENSMUST00000174126]

Predicted Effect

probably benign
Transcript: ENSMUST00000029682

SMART Domains

Protein: ENSMUSP00000029682
Gene: ENSMUSG00000028047

Domain	Start	End	E-Value	Type
TSPN	21	193	4.71e-56	SMART
Pfam:COMP	226	270	2.5e-22	PFAM
EGF	277	315	8.19e-2	SMART
EGF_CA	316	369	6.91e-9	SMART
EGF_CA	370	413	1.38e-8	SMART
EGF	417	456	1.99e0	SMART
Pfam:TSP_3	492	527	1e-12	PFAM
Pfam:TSP_3	551	586	2.2e-16	PFAM
Pfam:TSP_3	586	609	6.6e-7	PFAM
Pfam:TSP_3	610	647	2.6e-14	PFAM
Pfam:TSP_3	648	687	2.4e-10	PFAM
Pfam:TSP_3	688	723	4.2e-15	PFAM
Pfam:TSP_C	741	938	3.3e-99	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102300

Predicted Effect

probably benign
Transcript: ENSMUST00000119084

SMART Domains

Protein: ENSMUSP00000112912
Gene: ENSMUSG00000028047

Domain	Start	End	E-Value	Type
TSPN	21	193	4.71e-56	SMART
Pfam:COMP	226	270	8.2e-26	PFAM
EGF	277	315	8.19e-2	SMART
EGF_CA	316	369	6.91e-9	SMART
EGF_CA	370	413	1.38e-8	SMART
Pfam:TSP_3	455	490	4.4e-13	PFAM
Pfam:TSP_3	514	549	9.3e-17	PFAM
Pfam:TSP_3	549	572	2.8e-7	PFAM
Pfam:TSP_3	573	610	1.1e-14	PFAM
Pfam:TSP_3	611	650	1e-10	PFAM
Pfam:TSP_3	651	686	1.8e-15	PFAM
Pfam:TSP_C	704	904	7.9e-108	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126315

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126700

Predicted Effect

probably benign
Transcript: ENSMUST00000136881

SMART Domains

Protein: ENSMUSP00000120337
Gene: ENSMUSG00000028047

Domain	Start	End	E-Value	Type
Pfam:TSP_3	1	31	5.8e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155924

Predicted Effect

probably benign
Transcript: ENSMUST00000174126

SMART Domains

Protein: ENSMUSP00000133291
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
Pfam:Tom37_C	1	74	7.6e-23	PFAM
Pfam:GST_C_3	7	143	7.3e-12	PFAM
Pfam:GST_C_2	26	137	2.8e-9	PFAM
Pfam:Tom37_C	61	129	6.2e-15	PFAM
low complexity region	159	169	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174324

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (115/115)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentameric molecule linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. Alternate splicing results in coding and non-coding transcript variants. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous null mice at a young age are heavier and exhibit femurs with increased periosteal and endocortical diameters, greater moments of inertia and increased bending strength and failure loads, with these defects no longer detected in older mice. Femoral heads show accelerated bone ossification. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4931406P16Rik	A	C	7: 34,245,800	Y552D	probably damaging	Het
Acot6	A	G	12: 84,109,015	K246E	probably benign	Het
Actl11	T	A	9: 107,931,416	H979Q	probably damaging	Het
Adal	T	A	2: 121,155,549		probably benign	Het
Add2	G	A	6: 86,110,858	V596I	probably benign	Het
Adrb3	A	C	8: 27,227,770	M217R	probably damaging	Het
Akap2	T	A	4: 57,856,552	V668E	probably benign	Het
Ank1	T	C	8: 23,141,118		probably benign	Het
Ank2	A	T	3: 126,963,445	N1054K	possibly damaging	Het
Ankib1	T	C	5: 3,713,217	Y504C	probably damaging	Het
Ankrd29	T	C	18: 12,262,185	K217R	probably damaging	Het
Ankrd45	T	C	1: 161,155,306	V129A	probably damaging	Het
Aox4	A	T	1: 58,236,676	D389V	probably benign	Het
Aph1a	G	T	3: 95,895,531	G148W	probably damaging	Het
Arhgef26	G	A	3: 62,340,385	D297N	possibly damaging	Het
Atxn7l3b	C	A	10: 112,928,744		probably benign	Het
Auh	A	G	13: 52,841,029	S167P	probably damaging	Het
Bach1	A	T	16: 87,719,000	K143I	possibly damaging	Het
Bbx	T	A	16: 50,224,738	T487S	probably damaging	Het
Bche	T	G	3: 73,701,844	D83A	probably benign	Het
Bri3bp	G	T	5: 125,441,696		probably benign	Het
Cd3d	A	T	9: 44,984,998	E28D	probably damaging	Het
Cdc42bpa	A	G	1: 180,137,801	T1028A	probably damaging	Het
Celsr2	T	C	3: 108,412,629	I956V	possibly damaging	Het
Cep95	A	T	11: 106,816,654		probably null	Het
Cic	G	T	7: 25,287,110	G1289C	probably damaging	Het
Cndp1	A	G	18: 84,631,900	Y223H	probably damaging	Het
Cops8	A	G	1: 90,611,002	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,460,971	E194G	probably benign	Het
Ctsm	A	G	13: 61,538,962	Y39H	probably damaging	Het
Dhrs2	T	C	14: 55,237,265	V119A	probably damaging	Het
Drosha	T	A	15: 12,935,007	M1336K	probably benign	Het
Dsp	G	A	13: 38,197,702	D2808N	possibly damaging	Het
Ehmt1	G	T	2: 24,877,497	P135T	probably damaging	Het
Epas1	A	G	17: 86,809,454	N184S	probably damaging	Het
Erich3	C	T	3: 154,748,388	T597I	possibly damaging	Het
F10	T	C	8: 13,055,698	V421A	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam227b	G	A	2: 126,116,123	P241S	probably damaging	Het
Fcgrt	C	T	7: 45,101,948	G192D	probably benign	Het
Fras1	A	G	5: 96,650,682	E1184G	possibly damaging	Het
Gm5155	A	G	7: 17,905,218		probably null	Het
Gm8989	A	T	7: 106,329,457		noncoding transcript	Het
Grn	C	A	11: 102,430,554		probably benign	Het
Hadh	A	T	3: 131,235,548	L274*	probably null	Het
Hus1	T	C	11: 9,006,027	S169G	probably damaging	Het
Hydin	A	T	8: 110,563,922	I3338F	possibly damaging	Het
Ighv11-1	T	G	12: 113,982,148	E28D	probably benign	Het
Kctd9	C	T	14: 67,729,356	T106I	probably damaging	Het
Krit1	A	T	5: 3,822,238	N421I	probably damaging	Het
Lamb1	A	G	12: 31,326,678	D1619G	probably damaging	Het
Lpar6	G	A	14: 73,238,707	C36Y	probably damaging	Het
Lrrc37a	G	C	11: 103,456,739	F3043L	unknown	Het
Lrrc46	A	T	11: 97,040,939	V19D	probably damaging	Het
Mapkap1	G	T	2: 34,581,291	S197I	probably damaging	Het
Mrps35	A	C	6: 147,060,147	K173N	possibly damaging	Het
Mtf2	A	G	5: 108,073,028		probably benign	Het
Mum1	T	C	10: 80,232,868	L282P	probably benign	Het
Ncf1	A	C	5: 134,223,413	D261E	probably damaging	Het
Notch1	C	T	2: 26,481,181	E298K	probably damaging	Het
Nrxn1	A	T	17: 90,620,846		probably benign	Het
Olfr110	G	T	17: 37,499,126	L158F	probably benign	Het
Olfr1274-ps	T	A	2: 90,400,763	M34K	probably benign	Het
Olfr195	T	C	16: 59,149,618	L256P	probably damaging	Het
Olfr46	C	A	7: 140,610,391	A75E	possibly damaging	Het
Olfr622	A	G	7: 103,640,101	F13S	probably damaging	Het
Otud4	G	A	8: 79,655,689	V176I	probably damaging	Het
Papolg	T	C	11: 23,873,919		probably null	Het
Pgk2	A	G	17: 40,207,511	V342A	probably damaging	Het
Phf2	G	A	13: 48,807,844	A790V	unknown	Het
Prkdc	T	C	16: 15,673,997	I602T	possibly damaging	Het
Prl3d3	T	C	13: 27,159,089	I86T	possibly damaging	Het
Prss8	G	T	7: 127,926,463	Q295K	probably benign	Het
Ptpre	C	T	7: 135,669,132	H346Y	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Qrfpr	A	G	3: 36,222,136	V35A	probably damaging	Het
Rpf1	A	G	3: 146,506,538	L349S	probably damaging	Het
Rpl41	G	T	10: 128,548,783		probably null	Het
Rprd2	G	C	3: 95,765,320	R924G	probably benign	Het
Serpini1	T	A	3: 75,614,488	N95K	probably benign	Het
Sfxn1	A	T	13: 54,088,914	T64S	probably benign	Het
Siae	T	G	9: 37,646,520	I541S	possibly damaging	Het
Slc25a4	T	A	8: 46,207,472	K296N	probably benign	Het
Slc37a1	A	G	17: 31,322,146	N204S	probably damaging	Het
Slc9c1	A	G	16: 45,593,437	N976S	probably benign	Het
Smarcal1	T	C	1: 72,632,860	S847P	possibly damaging	Het
Smg1	A	T	7: 118,158,100		probably benign	Het
Smg1	C	T	7: 118,208,051	A168T	probably benign	Het
Sptlc1	A	G	13: 53,351,656	I242T	probably damaging	Het
St8sia2	T	C	7: 73,966,961	I89V	possibly damaging	Het
Supt20	A	T	3: 54,695,134		probably benign	Het
Tep1	T	C	14: 50,839,000	D1659G	probably benign	Het
Tex10	C	A	4: 48,458,525		probably benign	Het
Tmbim6	C	A	15: 99,402,069	S22*	probably null	Het
Tmc2	A	T	2: 130,202,041	K65M	possibly damaging	Het
Tmod1	A	G	4: 46,090,872	S142G	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trmt6	T	C	2: 132,808,271	R349G	possibly damaging	Het
Ttn	T	A	2: 76,707,242	T26454S	possibly damaging	Het
Ttn	C	T	2: 76,774,778	V16555I	probably benign	Het
Ubr3	T	C	2: 70,020,446		probably benign	Het
Vmn1r17	A	C	6: 57,360,475	F253V	possibly damaging	Het
Vmn1r201	G	T	13: 22,475,452	A279S	possibly damaging	Het
Vmn2r17	A	T	5: 109,427,873	R203S	probably benign	Het
Vwa5a	A	G	9: 38,722,630	E43G	probably benign	Het
Wdr86	C	T	5: 24,712,845		probably null	Het
Wdsub1	A	T	2: 59,870,414		probably benign	Het
Zcchc11	T	A	4: 108,526,845		probably benign	Het
Zcchc7	T	C	4: 44,931,039	L76P	probably damaging	Het
Zfp108	G	T	7: 24,260,738	K251N	probably benign	Het
Zfp263	T	C	16: 3,749,128	C148R	probably damaging	Het
Zfp687	A	C	3: 95,010,386	F692V	probably damaging	Het

Other mutations in Thbs3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01838:Thbs3	APN	3	89219058	nonsense	probably null
IGL02927:Thbs3	APN	3	89220207	missense	probably damaging	0.98
IGL02980:Thbs3	UTSW	3	89223144	missense	probably benign
R0648:Thbs3	UTSW	3	89216665	intron	probably null
R0690:Thbs3	UTSW	3	89220165	missense	possibly damaging	0.50
R1856:Thbs3	UTSW	3	89226406	missense	probably damaging	1.00
R1928:Thbs3	UTSW	3	89217760	missense	probably damaging	1.00
R2116:Thbs3	UTSW	3	89219392	missense	probably damaging	1.00
R4600:Thbs3	UTSW	3	89224590	missense	probably damaging	0.97
R4719:Thbs3	UTSW	3	89216840	missense	probably damaging	1.00
R4947:Thbs3	UTSW	3	89226431	missense	probably damaging	1.00
R5134:Thbs3	UTSW	3	89223102	intron	probably benign
R5217:Thbs3	UTSW	3	89223164	critical splice donor site	probably null
R5305:Thbs3	UTSW	3	89217976	intron	probably benign
R5354:Thbs3	UTSW	3	89221377	missense	probably damaging	1.00
R5444:Thbs3	UTSW	3	89223385	intron	probably benign
R5569:Thbs3	UTSW	3	89219463	missense	probably damaging	1.00
R5646:Thbs3	UTSW	3	89219098	missense	probably damaging	1.00
R5801:Thbs3	UTSW	3	89224397	missense	probably benign	0.15
R5886:Thbs3	UTSW	3	89220163	missense	probably damaging	1.00
R6031:Thbs3	UTSW	3	89218094	missense	probably damaging	0.99
R6031:Thbs3	UTSW	3	89218094	missense	probably damaging	0.99
R6943:Thbs3	UTSW	3	89224864	missense	probably benign	0.01
R7017:Thbs3	UTSW	3	89224415	missense	probably damaging	1.00
R7352:Thbs3	UTSW	3	89225280	missense	probably benign	0.03
R7570:Thbs3	UTSW	3	89219052	nonsense	probably null
R7671:Thbs3	UTSW	3	89216707	missense	probably benign	0.01
R7707:Thbs3	UTSW	3	89224900	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TCCCTATGAAATGAACTGTGGAG -3'
(R):5'- ACATCATGTTCTCGGGCCAG -3'

Sequencing Primer
(F):5'- AACTGTGGAGATATGTACCTGGTC -3'
(R):5'- TCGGGCCAGTGATTATAAGCCTAC -3'

Posted On

2016-05-10