Mutagenetix > Incidental Mutation

Incidental Mutation 'R7671:Thbs3'

592148

Institutional Source

Beutler Lab

Gene Symbol

Thbs3

Ensembl Gene

ENSMUSG00000028047

Gene Name

thrombospondin 3

Synonyms

Thbs-3, TSP3

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.696) question?

Stock #

R7671 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89215180-89226837 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89216707 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 36 (S36T)

Ref Sequence

ENSEMBL: ENSMUSP00000029682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029682] [ENSMUST00000073572] [ENSMUST00000118964] [ENSMUST00000119084] [ENSMUST00000142051] [ENSMUST00000152789] [ENSMUST00000174126]

AlphaFold

Q05895

Predicted Effect

probably benign
Transcript: ENSMUST00000029682
AA Change: S36T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000029682
Gene: ENSMUSG00000028047
AA Change: S36T

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

probably benign
Transcript: ENSMUST00000073572

SMART Domains

Protein: ENSMUSP00000073261
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
low complexity region	94	109	N/A	INTRINSIC
Pfam:Tom37	151	219	4.2e-21	PFAM
Pfam:Tom37_C	239	317	8.1e-24	PFAM
Pfam:GST_C_3	267	383	1.7e-11	PFAM
Pfam:GST_C_2	270	377	2.7e-8	PFAM
Pfam:Tom37_C	300	369	1.1e-14	PFAM
low complexity region	396	415	N/A	INTRINSIC
transmembrane domain	416	438	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118964

SMART Domains

Protein: ENSMUSP00000114009
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
low complexity region	94	109	N/A	INTRINSIC
Pfam:Tom37	151	219	5.9e-21	PFAM
Pfam:Tom37_C	216	287	6.3e-19	PFAM
Pfam:GST_C_3	216	352	5.1e-11	PFAM
Pfam:GST_C_2	238	344	1.9e-8	PFAM
Pfam:Tom37_C	269	338	9.5e-15	PFAM
low complexity region	365	384	N/A	INTRINSIC
transmembrane domain	385	407	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119084
AA Change: S36T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000112912
Gene: ENSMUSG00000028047
AA Change: S36T

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

probably benign
Transcript: ENSMUST00000119222

SMART Domains

Protein: ENSMUSP00000113986
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
Pfam:Tom37	12	57	1.6e-11	PFAM
Pfam:Tom37_C	138	216	5.4e-24	PFAM
Pfam:GST_C_3	166	282	1.1e-11	PFAM
Pfam:GST_C_2	169	276	1.8e-8	PFAM
Pfam:Tom37_C	199	268	7.2e-15	PFAM
low complexity region	295	314	N/A	INTRINSIC
transmembrane domain	315	337	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142051

SMART Domains

Protein: ENSMUSP00000116136
Gene: ENSMUSG00000028047

Domain	Start	End	E-Value	Type
TSPN	1	124	2.52e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152789

Predicted Effect

probably benign
Transcript: ENSMUST00000173465

Predicted Effect

probably benign
Transcript: ENSMUST00000173477

SMART Domains

Protein: ENSMUSP00000133282
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
Pfam:Tom37	1	58	8.5e-16	PFAM
Pfam:Tom37_C	77	155	9.7e-24	PFAM
Pfam:GST_C_3	104	221	8.2e-12	PFAM
Pfam:GST_C_2	107	216	7.5e-9	PFAM
Pfam:Tom37_C	138	207	1.3e-14	PFAM
low complexity region	234	253	N/A	INTRINSIC
transmembrane domain	254	276	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173593

SMART Domains

Protein: ENSMUSP00000133866
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
Pfam:Tom37	14	82	1.1e-21	PFAM
Pfam:Tom37_C	102	178	3.4e-24	PFAM

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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 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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,259,925	I394N	probably damaging	Het
4930435E12Rik	C	T	16: 38,828,091	D219N	possibly damaging	Het
4932438A13Rik	T	C	3: 36,943,231	F1146L	probably damaging	Het
4933406M09Rik	T	C	1: 134,390,062	C191R	probably benign	Het
Akap13	C	A	7: 75,569,900	T17K	probably damaging	Het
Ankrd29	T	A	18: 12,260,986	K257I	probably damaging	Het
Bicc1	A	G	10: 70,957,167	L219P	probably benign	Het
Boc	C	T	16: 44,491,849	V617M		Het
Ccl8	A	G	11: 82,115,207		probably benign	Het
Col18a1	A	G	10: 77,085,383	L261P	unknown	Het
Col5a3	T	A	9: 20,775,086		probably null	Het
Cryba4	A	C	5: 112,248,173		probably null	Het
Csf2rb	A	G	15: 78,338,930	Y114C	probably damaging	Het
Ctif	T	C	18: 75,472,016	D484G	probably damaging	Het
Ctnnal1	A	G	4: 56,837,848	F261L	probably damaging	Het
Defb22	A	T	2: 152,486,030	N78K	unknown	Het
Efr3a	G	A	15: 65,837,434		probably null	Het
Elp4	G	T	2: 105,904,481	A3E	probably damaging	Het
Emilin2	A	G	17: 71,273,910	V607A	probably benign	Het
Epsti1	A	G	14: 77,904,490	Y2C	probably damaging	Het
Fam81b	A	C	13: 76,271,293	L46R	probably damaging	Het
Fam81b	G	T	13: 76,271,294	L46I	possibly damaging	Het
Fbxo15	T	A	18: 84,964,153	H288Q	probably damaging	Het
Gabrg1	T	A	5: 70,815,980	N77I	probably damaging	Het
Ganab	A	G	19: 8,912,852	Y715C	possibly damaging	Het
Hist3h2ba	T	C	11: 58,949,276	S113P	possibly damaging	Het
Iqgap2	T	C	13: 95,628,119	D1539G	probably damaging	Het
Kcp	T	C	6: 29,496,517	N633S	probably benign	Het
Krt6a	C	A	15: 101,690,543	S529I	unknown	Het
Leo1	A	G	9: 75,445,562	H129R	probably benign	Het
Lmf1	G	A	17: 25,579,349	V55M	possibly damaging	Het
Mcm9	A	G	10: 53,537,569	S472P	probably benign	Het
Med27	T	A	2: 29,377,938	V33D		Het
Mup15	C	T	4: 61,438,289	E80K	probably benign	Het
Myo18a	G	A	11: 77,859,420	R199H		Het
Nebl	T	A	2: 17,390,916	R558*	probably null	Het
Olfr1121	A	G	2: 87,372,269	T246A	probably damaging	Het
Olfr1252	A	T	2: 89,721,259	I284K	probably damaging	Het
Olfr1329	A	T	4: 118,916,986	H160Q	probably benign	Het
Olfr506	T	C	7: 108,612,991	I228T	probably damaging	Het
Olfr740	G	T	14: 50,453,885	V278L	probably benign	Het
Olfr815	T	C	10: 129,902,353	D119G	probably damaging	Het
Olfr890	A	T	9: 38,143,440	M97L	probably benign	Het
Pde11a	A	T	2: 76,215,353	F376I	possibly damaging	Het
Prima1	A	T	12: 103,235,661	C52S	probably damaging	Het
Pxn	G	A	5: 115,548,547	R366H	not run	Het
Sgce	T	C	6: 4,691,564	Y337C	probably damaging	Het
Slc25a10	T	A	11: 120,495,460	M130K	probably benign	Het
Slc29a2	A	T	19: 5,024,262	N5I	probably benign	Het
Slc35a1	A	T	4: 34,673,875	H150Q		Het
Slc5a4a	T	A	10: 76,147,550	V7D	unknown	Het
Stk17b	T	A	1: 53,766,000	D134V	probably damaging	Het
Thsd4	A	G	9: 60,428,174	S152P	probably benign	Het
Tmem67	G	T	4: 12,063,698	H422N	probably benign	Het
Tram1	C	A	1: 13,589,644	V27F	probably damaging	Het
Trim14	A	G	4: 46,507,238	V326A	possibly 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	splice site	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
R4989:Thbs3	UTSW	3	89223102	intron	probably benign
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
R7707:Thbs3	UTSW	3	89224900	missense	possibly damaging	0.88
R8255:Thbs3	UTSW	3	89225258	missense	probably benign
R8341:Thbs3	UTSW	3	89225391	missense	probably benign
R8769:Thbs3	UTSW	3	89224630	intron	probably benign
R9536:Thbs3	UTSW	3	89216737	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- GGAAGATGATAATTAGGGATGCCTC -3'
(R):5'- GATCTTGCCCACAACAGAGG -3'

Sequencing Primer
(F):5'- GGGCTACAGAAAATCCTTGTCTC -3'
(R):5'- GCCTCCAGCCATCGTGTG -3'

Posted On

2019-11-12