Mutagenetix > Incidental Mutation

Incidental Mutation 'R5354:Thbs3'

423951

Institutional Source

Beutler Lab

Gene Symbol

Thbs3

Ensembl Gene

ENSMUSG00000028047

Gene Name

thrombospondin 3

Synonyms

TSP3, Thbs-3

MMRRC Submission

042933-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.558) question?

Stock #

R5354 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89122487-89134144 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89128684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 458 (D458G)

Ref Sequence

ENSEMBL: ENSMUSP00000029682 (fasta)

Gene Model

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

AlphaFold

Q05895

Predicted Effect

probably damaging
Transcript: ENSMUST00000029682
AA Change: D458G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029682
Gene: ENSMUSG00000028047
AA Change: D458G

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: 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

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

noncoding transcript
Transcript: ENSMUST00000146435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174324

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

Meta Mutation Damage Score

0.9534

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (80/80)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	G	16: 14,436,535 (GRCm39)	K196R	probably benign	Het
Ablim1	T	C	19: 57,119,355 (GRCm39)	E243G	probably benign	Het
Acat1	T	A	9: 53,500,483 (GRCm39)	E271V	possibly damaging	Het
Aco1	T	C	4: 40,180,290 (GRCm39)		probably null	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Agbl3	T	A	6: 34,791,687 (GRCm39)	H596Q	probably benign	Het
Anxa7	A	G	14: 20,514,977 (GRCm39)	L177P	possibly damaging	Het
Atp11a	A	T	8: 12,856,753 (GRCm39)	N48I	probably damaging	Het
Bcas1	T	A	2: 170,191,316 (GRCm39)	N492I	possibly damaging	Het
Bclaf1	A	G	10: 20,209,278 (GRCm39)	Y498C	probably damaging	Het
Bltp3a	G	A	17: 28,106,489 (GRCm39)	S1005N	probably benign	Het
Bod1l	A	C	5: 41,988,880 (GRCm39)	V409G	probably damaging	Het
Ccdc170	G	A	10: 4,484,188 (GRCm39)	C338Y	probably benign	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Ckap2	A	C	8: 22,667,581 (GRCm39)	N93K	probably damaging	Het
Clca3a1	A	T	3: 144,442,766 (GRCm39)	S759R	possibly damaging	Het
Coro1c	A	T	5: 113,984,226 (GRCm39)	I347N	possibly damaging	Het
Cpox	A	G	16: 58,491,205 (GRCm39)	T139A	probably damaging	Het
Cyp4a12b	C	A	4: 115,290,661 (GRCm39)		probably null	Het
Dctn1	T	G	6: 83,160,108 (GRCm39)	V116G	possibly damaging	Het
Dhx38	A	G	8: 110,282,378 (GRCm39)	V683A	probably damaging	Het
Dnah12	G	A	14: 26,496,299 (GRCm39)		probably null	Het
Dnajb7	T	C	15: 81,292,208 (GRCm39)	E43G	probably damaging	Het
Dsc1	A	T	18: 20,220,632 (GRCm39)	V714E	probably damaging	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
Egfem1	T	C	3: 29,136,361 (GRCm39)		probably null	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fmo1	T	C	1: 162,657,714 (GRCm39)	T476A	probably benign	Het
Gm10237	T	C	16: 35,741,099 (GRCm39)		noncoding transcript	Het
Gm14496	A	G	2: 181,642,602 (GRCm39)	S758G	probably damaging	Het
Gpat2	T	A	2: 127,270,643 (GRCm39)	L97Q	probably damaging	Het
Gpr162	T	C	6: 124,836,600 (GRCm39)	D357G	probably benign	Het
Hax1	A	T	3: 89,905,262 (GRCm39)	D34E	probably damaging	Het
Hmgcr	C	T	13: 96,791,404 (GRCm39)	V97M	probably benign	Het
Hsd3b2	T	C	3: 98,619,631 (GRCm39)	T105A	probably benign	Het
Ints1	A	G	5: 139,752,183 (GRCm39)		probably null	Het
Islr	T	C	9: 58,064,895 (GRCm39)	E204G	probably damaging	Het
Lrrc36	A	G	8: 106,151,996 (GRCm39)	N60D	probably damaging	Het
Maf1	T	C	15: 76,237,330 (GRCm39)		probably benign	Het
Mrgprb4	T	A	7: 47,848,077 (GRCm39)	R284W	probably benign	Het
Myh4	A	T	11: 67,146,551 (GRCm39)	N1508I	possibly damaging	Het
Nufip2	A	G	11: 77,577,103 (GRCm39)	H17R	unknown	Het
Oasl1	A	T	5: 115,075,055 (GRCm39)	I372L	probably damaging	Het
Or5ae1	T	A	7: 84,565,357 (GRCm39)	Y123*	probably null	Het
Or6p1	T	C	1: 174,258,252 (GRCm39)	L86P	probably damaging	Het
Pald1	A	T	10: 61,184,440 (GRCm39)	Y226N	probably damaging	Het
Pcdhb13	G	T	18: 37,577,844 (GRCm39)	G741C	probably damaging	Het
Pcdhga10	A	G	18: 37,881,259 (GRCm39)	D340G	probably damaging	Het
Pclo	C	A	5: 14,728,822 (GRCm39)		probably benign	Het
Pcsk4	G	T	10: 80,159,523 (GRCm39)	N416K	probably damaging	Het
Pde10a	C	A	17: 9,180,812 (GRCm39)	R398S	probably damaging	Het
Plin1	T	A	7: 79,375,469 (GRCm39)	T227S	possibly damaging	Het
Pnpt1	A	G	11: 29,104,166 (GRCm39)	D542G	probably damaging	Het
Ppp4r3b	T	A	11: 29,161,646 (GRCm39)	D673E	probably benign	Het
Prr18	C	A	17: 8,559,892 (GRCm39)	P16Q	probably damaging	Het
Psmc3	T	A	2: 90,889,698 (GRCm39)	Y440N	probably damaging	Het
Rassf5	T	C	1: 131,108,385 (GRCm39)	I232V	probably benign	Het
Rims1	T	A	1: 22,577,592 (GRCm39)	D218V	probably damaging	Het
Skint10	T	C	4: 112,568,790 (GRCm39)	N309S	possibly damaging	Het
Slc6a1	T	C	6: 114,279,584 (GRCm39)	M121T	possibly damaging	Het
Slit3	A	G	11: 35,566,740 (GRCm39)	D1004G	probably damaging	Het
Snap91	C	T	9: 86,717,177 (GRCm39)	V215I	possibly damaging	Het
Son	T	C	16: 91,452,627 (GRCm39)	L458S	probably damaging	Het
St18	C	T	1: 6,914,395 (GRCm39)	A782V	probably damaging	Het
Synpo	A	G	18: 60,735,303 (GRCm39)		probably null	Het
Tpr	C	T	1: 150,321,675 (GRCm39)	R3C	probably damaging	Het
Trp63	A	G	16: 25,503,105 (GRCm39)		probably null	Het
Vmn1r27	C	A	6: 58,192,581 (GRCm39)	R141L	probably benign	Het
Wnk1	T	C	6: 119,945,484 (GRCm39)	I699V	probably benign	Het
Xkr6	A	G	14: 64,056,353 (GRCm39)	D88G	possibly damaging	Het
Zan	A	G	5: 137,379,050 (GRCm39)		probably benign	Het
Zbtb7b	T	C	3: 89,286,913 (GRCm39)		probably benign	Het
Zfp618	A	T	4: 62,998,265 (GRCm39)	D33V	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
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
R7707:Thbs3	UTSW	3	89,132,207 (GRCm39)	missense	possibly damaging	0.88
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'- AGTGCCTTCATGGGAAAGAG -3'
(R):5'- ATCGTCATCACACTGGTCCC -3'

Sequencing Primer
(F):5'- CCTTCATGGGAAAGAGGTAAGCAC -3'
(R):5'- AGCATCTTCTTGCCCAGAG -3'

Posted On

2016-08-04