Mutagenetix > Incidental Mutation

Incidental Mutation 'R7707:Thbs3'

594321

Institutional Source

Beutler Lab

Gene Symbol

Thbs3

Ensembl Gene

ENSMUSG00000028047

Gene Name

thrombospondin 3

Synonyms

TSP3, Thbs-3

MMRRC Submission

067893-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.707) question?

Stock #

R7707 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89122487-89134144 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89132207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 798 (Y798F)

Ref Sequence

ENSEMBL: ENSMUSP00000029682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029682] [ENSMUST00000041142] [ENSMUST00000119084] [ENSMUST00000174126]

AlphaFold

Q05895

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029682
AA Change: Y798F

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029682
Gene: ENSMUSG00000028047
AA Change: Y798F

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: ENSMUST00000041142

SMART Domains

Protein: ENSMUSP00000041963
Gene: ENSMUSG00000042784

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	30	46	N/A	INTRINSIC
internal_repeat_2	48	106	4.93e-6	PROSPERO
internal_repeat_1	79	151	3.46e-38	PROSPERO
low complexity region	153	181	N/A	INTRINSIC
internal_repeat_1	183	254	3.46e-38	PROSPERO
internal_repeat_2	192	259	4.93e-6	PROSPERO
low complexity region	277	292	N/A	INTRINSIC
low complexity region	296	307	N/A	INTRINSIC
low complexity region	370	381	N/A	INTRINSIC
low complexity region	382	400	N/A	INTRINSIC
SEA	412	528	6.2e-43	SMART
low complexity region	537	552	N/A	INTRINSIC
Blast:SEA	557	624	2e-36	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000119084
AA Change: Y761F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112912
Gene: ENSMUSG00000028047
AA Change: Y761F

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

SMART Domains

Protein: ENSMUSP00000120337
Gene: ENSMUSG00000028047
AA Change: L59F

Domain	Start	End	E-Value	Type
Pfam:TSP_3	1	31	5.8e-14	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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (72/73)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	A	5: 113,285,852 (GRCm39)	M1L	probably benign	Het
Ap1s3	T	C	1: 79,591,964 (GRCm39)	K129E	probably benign	Het
Ap3b2	C	T	7: 81,126,530 (GRCm39)	V357I	possibly damaging	Het
Aplp1	A	T	7: 30,142,523 (GRCm39)	C140S	probably damaging	Het
Arhgef1	G	A	7: 24,616,306 (GRCm39)	D317N	probably damaging	Het
Asb4	A	G	6: 5,430,968 (GRCm39)	H401R	probably benign	Het
Bpi	A	T	2: 158,103,093 (GRCm39)	E79D	probably benign	Het
Cant1	C	T	11: 118,301,724 (GRCm39)	V198M	possibly damaging	Het
Casp9	C	T	4: 141,532,778 (GRCm39)	R225C	probably benign	Het
Ccdc88b	C	A	19: 6,834,837 (GRCm39)	R82L	probably benign	Het
Cfap251	A	T	5: 123,391,950 (GRCm39)	E28V	probably benign	Het
Chrm4	A	G	2: 91,757,699 (GRCm39)	T36A	probably benign	Het
Cntln	A	T	4: 84,802,853 (GRCm39)	D51V	probably damaging	Het
Commd8	A	T	5: 72,320,081 (GRCm39)	F120Y	probably damaging	Het
Cpne6	A	C	14: 55,753,771 (GRCm39)	T410P	probably damaging	Het
Ctnnb1	A	T	9: 120,781,931 (GRCm39)	I315F	possibly damaging	Het
Dnah9	A	G	11: 66,009,784 (GRCm39)	V701A	probably damaging	Het
Efcab9	A	G	11: 32,472,851 (GRCm39)	Y199H	possibly damaging	Het
Endou	T	A	15: 97,610,983 (GRCm39)		probably null	Het
Fhip1a	A	G	3: 85,583,560 (GRCm39)	V412A	probably benign	Het
Foxc2	C	T	8: 121,844,641 (GRCm39)	P430S	probably benign	Het
Gas2l3	T	A	10: 89,250,220 (GRCm39)	K299N	probably damaging	Het
Gm10375	G	A	14: 43,842,332 (GRCm39)	Q133*	probably null	Het
Gorab	T	C	1: 163,220,009 (GRCm39)	D211G	probably damaging	Het
Grin3b	T	A	10: 79,811,735 (GRCm39)	S747T	possibly damaging	Het
Gucd1	C	A	10: 75,347,120 (GRCm39)		probably benign	Het
Gucy2d	T	C	7: 98,100,876 (GRCm39)	F400L	possibly damaging	Het
Hivep3	G	A	4: 119,591,156 (GRCm39)	V55M		Het
Igsf3	A	G	3: 101,367,238 (GRCm39)	N1157S	probably benign	Het
Irak3	A	T	10: 119,982,489 (GRCm39)	D324E	probably damaging	Het
Jup	G	T	11: 100,273,878 (GRCm39)	A221D	possibly damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Lgr4	A	G	2: 109,827,936 (GRCm39)		probably null	Het
Lrrc34	T	C	3: 30,679,041 (GRCm39)	D352G	probably benign	Het
Metrn	C	A	17: 26,014,384 (GRCm39)	A175S	probably benign	Het
Nr2c1	T	A	10: 94,024,027 (GRCm39)	S411T	probably benign	Het
Or4c11	A	G	2: 88,695,153 (GRCm39)	D68G	possibly damaging	Het
Or5h22	T	A	16: 58,894,634 (GRCm39)	I270F	possibly damaging	Het
Orc3	T	A	4: 34,598,691 (GRCm39)	K172*	probably null	Het
Oxnad1	A	G	14: 31,823,965 (GRCm39)		probably null	Het
Pcdh7	A	G	5: 57,877,672 (GRCm39)	N409S	probably damaging	Het
Pcdha11	A	T	18: 37,144,845 (GRCm39)	N312I	probably benign	Het
Pds5a	G	T	5: 65,767,476 (GRCm39)	P121Q	unknown	Het
Phc1	A	G	6: 122,300,739 (GRCm39)	I380T	unknown	Het
Phldb3	C	A	7: 24,326,022 (GRCm39)	H535N	possibly damaging	Het
Proser3	T	C	7: 30,239,216 (GRCm39)	Q600R	probably benign	Het
Ptprz1	A	G	6: 23,002,295 (GRCm39)	M1462V	probably benign	Het
Pyroxd2	T	C	19: 42,726,586 (GRCm39)	T243A	probably damaging	Het
Ralgapa1	C	A	12: 55,824,077 (GRCm39)	D268Y	probably null	Het
Rapgef5	A	C	12: 117,679,079 (GRCm39)	Y419S	probably damaging	Het
Rbm24	C	A	13: 46,582,605 (GRCm39)	Q175K	possibly damaging	Het
Robo4	A	T	9: 37,324,418 (GRCm39)	D982V	probably damaging	Het
Sbf2	T	C	7: 109,929,920 (GRCm39)		probably null	Het
Serping1	A	T	2: 84,604,043 (GRCm39)		probably null	Het
Shank1	C	T	7: 43,993,725 (GRCm39)	S798F	unknown	Het
Slc15a5	A	T	6: 138,056,745 (GRCm39)	M57K	probably damaging	Het
Slc35g1	T	A	19: 38,391,571 (GRCm39)	C284*	probably null	Het
Src	G	A	2: 157,306,578 (GRCm39)	D194N	probably damaging	Het
Srfbp1	A	G	18: 52,616,726 (GRCm39)	T84A	probably damaging	Het
Sspo	A	T	6: 48,438,461 (GRCm39)	T1510S	probably benign	Het
Taar1	A	T	10: 23,797,135 (GRCm39)	I278F	possibly damaging	Het
Taf1a	T	C	1: 183,185,583 (GRCm39)	Y281H	possibly damaging	Het
Tnpo1	T	C	13: 99,027,295 (GRCm39)	T7A	probably benign	Het
Traf7	A	T	17: 24,729,683 (GRCm39)		probably null	Het
Trbv19	G	A	6: 41,155,547 (GRCm39)	V9I	possibly damaging	Het
Trim17	C	T	11: 58,856,110 (GRCm39)	Q56*	probably null	Het
Ttn	G	T	2: 76,732,406 (GRCm39)	A4643E	unknown	Het
Ugt2b36	A	G	5: 87,229,367 (GRCm39)		probably null	Het
Uso1	A	G	5: 92,349,795 (GRCm39)	*960W	probably null	Het
Usp2	G	T	9: 43,984,757 (GRCm39)		probably null	Het
Wdr20rt	A	G	12: 65,272,981 (GRCm39)	D148G	probably damaging	Het
Wif1	T	C	10: 120,919,864 (GRCm39)	F204L	probably damaging	Het
Wwp1	T	C	4: 19,627,645 (GRCm39)	D750G	probably benign	Het
Zfp1006	A	T	8: 129,945,660 (GRCm39)	C388*	probably null	Het
Zmynd12	A	T	4: 119,302,063 (GRCm39)	D234V	probably damaging	Het

Other mutations in Thbs3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01838:Thbs3	APN	3	89,126,365 (GRCm39)	nonsense	probably null
IGL02927:Thbs3	APN	3	89,127,514 (GRCm39)	missense	probably damaging	0.98
IGL02980:Thbs3	UTSW	3	89,130,451 (GRCm39)	missense	probably benign
R0648:Thbs3	UTSW	3	89,123,972 (GRCm39)	splice site	probably null
R0690:Thbs3	UTSW	3	89,127,472 (GRCm39)	missense	possibly damaging	0.50
R1856:Thbs3	UTSW	3	89,133,713 (GRCm39)	missense	probably damaging	1.00
R1928:Thbs3	UTSW	3	89,125,067 (GRCm39)	missense	probably damaging	1.00
R2116:Thbs3	UTSW	3	89,126,699 (GRCm39)	missense	probably damaging	1.00
R4600:Thbs3	UTSW	3	89,131,897 (GRCm39)	missense	probably damaging	0.97
R4719:Thbs3	UTSW	3	89,124,147 (GRCm39)	missense	probably damaging	1.00
R4947:Thbs3	UTSW	3	89,133,738 (GRCm39)	missense	probably damaging	1.00
R4989:Thbs3	UTSW	3	89,130,409 (GRCm39)	intron	probably benign
R5134:Thbs3	UTSW	3	89,130,409 (GRCm39)	intron	probably benign
R5217:Thbs3	UTSW	3	89,130,471 (GRCm39)	critical splice donor site	probably null
R5305:Thbs3	UTSW	3	89,125,283 (GRCm39)	intron	probably benign
R5354:Thbs3	UTSW	3	89,128,684 (GRCm39)	missense	probably damaging	1.00
R5444:Thbs3	UTSW	3	89,130,692 (GRCm39)	intron	probably benign
R5569:Thbs3	UTSW	3	89,126,770 (GRCm39)	missense	probably damaging	1.00
R5646:Thbs3	UTSW	3	89,126,405 (GRCm39)	missense	probably damaging	1.00
R5801:Thbs3	UTSW	3	89,131,704 (GRCm39)	missense	probably benign	0.15
R5886:Thbs3	UTSW	3	89,127,470 (GRCm39)	missense	probably damaging	1.00
R6031:Thbs3	UTSW	3	89,125,401 (GRCm39)	missense	probably damaging	0.99
R6031:Thbs3	UTSW	3	89,125,401 (GRCm39)	missense	probably damaging	0.99
R6943:Thbs3	UTSW	3	89,132,171 (GRCm39)	missense	probably benign	0.01
R7017:Thbs3	UTSW	3	89,131,722 (GRCm39)	missense	probably damaging	1.00
R7352:Thbs3	UTSW	3	89,132,587 (GRCm39)	missense	probably benign	0.03
R7570:Thbs3	UTSW	3	89,126,359 (GRCm39)	nonsense	probably null
R7671:Thbs3	UTSW	3	89,124,014 (GRCm39)	missense	probably benign	0.01
R8255:Thbs3	UTSW	3	89,132,565 (GRCm39)	missense	probably benign
R8341:Thbs3	UTSW	3	89,132,698 (GRCm39)	missense	probably benign
R8769:Thbs3	UTSW	3	89,131,937 (GRCm39)	intron	probably benign
R9536:Thbs3	UTSW	3	89,124,044 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- TAGTCCTGTATGCAGCAGGC -3'
(R):5'- CACATGTCTGGGTAGGGAAG -3'

Sequencing Primer
(F):5'- AGGGTACACGGCCTTTAA -3'
(R):5'- CATGTCTGGGTAGGGAAGCTCAG -3'

Posted On

2019-11-12