Mutagenetix > Incidental Mutation

Incidental Mutation 'R0690:Thbs3'

61318

Institutional Source

Beutler Lab

Gene Symbol

Thbs3

Ensembl Gene

ENSMUSG00000028047

Gene Name

thrombospondin 3

Synonyms

TSP3, Thbs-3

MMRRC Submission

038875-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.558) question?

Stock #

R0690 (G1)

Quality Score

160

Status

Validated

Chromosome

Chromosomal Location

89122487-89134144 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89127472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 371 (I371N)

Ref Sequence

ENSEMBL: ENSMUSP00000112912 (fasta)

Gene Model

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

AlphaFold

Q05895

Predicted Effect

probably benign
Transcript: ENSMUST00000029682
AA Change: I371N

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000029682
Gene: ENSMUSG00000028047
AA Change: I371N

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

possibly damaging
Transcript: ENSMUST00000119084
AA Change: I371N

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112912
Gene: ENSMUSG00000028047
AA Change: I371N

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: 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: ENSMUST00000144980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146435

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

0.7300

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (87/90)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,860,634 (GRCm39)		probably benign	Het
Abi3	T	C	11: 95,724,460 (GRCm39)		probably benign	Het
Adam2	T	C	14: 66,295,095 (GRCm39)	N250S	probably damaging	Het
Agbl4	T	A	4: 111,514,585 (GRCm39)	I532K	probably benign	Het
Agrn	T	G	4: 156,258,910 (GRCm39)	E905A	probably damaging	Het
Ahi1	A	G	10: 20,846,742 (GRCm39)		probably benign	Het
Aifm2	A	G	10: 61,562,231 (GRCm39)	N89S	probably benign	Het
Arsj	C	T	3: 126,231,833 (GRCm39)	T193I	probably damaging	Het
Ascc2	T	A	11: 4,632,933 (GRCm39)	V702E	probably damaging	Het
Avpr1b	T	C	1: 131,528,019 (GRCm39)	S181P	probably damaging	Het
Bcl7a	G	A	5: 123,490,003 (GRCm39)	V56I	possibly damaging	Het
Cd160	T	A	3: 96,713,102 (GRCm39)	D54V	probably damaging	Het
Celsr2	C	A	3: 108,322,293 (GRCm39)	R173M	probably damaging	Het
Cfap57	A	G	4: 118,426,924 (GRCm39)		probably benign	Het
Cfap69	G	A	5: 5,713,951 (GRCm39)	T27I	probably damaging	Het
Chaf1b	T	C	16: 93,696,905 (GRCm39)		probably benign	Het
Cldn8	C	T	16: 88,359,527 (GRCm39)	V133M	probably damaging	Het
Col2a1	A	T	15: 97,878,073 (GRCm39)	V954E	unknown	Het
Col6a4	T	C	9: 105,905,386 (GRCm39)		probably benign	Het
Col6a6	T	C	9: 105,586,685 (GRCm39)	M1779V	probably benign	Het
Coq8b	A	G	7: 26,941,674 (GRCm39)	E253G	probably benign	Het
Ctse	T	C	1: 131,602,516 (GRCm39)		probably benign	Het
Cyp2c29	T	A	19: 39,298,170 (GRCm39)	N238K	probably benign	Het
Dcaf1	T	A	9: 106,723,848 (GRCm39)		probably benign	Het
Dcc	A	T	18: 71,942,275 (GRCm39)		probably benign	Het
Dkk1	A	G	19: 30,526,745 (GRCm39)	F12S	probably benign	Het
Dnah6	A	G	6: 73,106,457 (GRCm39)	V1760A	probably benign	Het
Fam117b	G	A	1: 59,997,512 (GRCm39)	S288N	possibly damaging	Het
Fam216a	A	T	5: 122,505,709 (GRCm39)	M110K	probably damaging	Het
Frem3	T	A	8: 81,340,581 (GRCm39)	I958N	possibly damaging	Het
Gab1	T	A	8: 81,526,745 (GRCm39)	N118Y	probably damaging	Het
Gda	T	A	19: 21,387,251 (GRCm39)	I251L	probably benign	Het
Gli2	C	A	1: 118,772,190 (GRCm39)	R505L	probably damaging	Het
Gm5093	A	T	17: 46,750,664 (GRCm39)	I121N	possibly damaging	Het
Gpnmb	C	T	6: 49,024,949 (GRCm39)	S327L	probably benign	Het
Gpr156	T	A	16: 37,812,503 (GRCm39)	Y280N	probably damaging	Het
Gria4	A	G	9: 4,427,071 (GRCm39)	Y790H	probably damaging	Het
Guf1	C	A	5: 69,723,695 (GRCm39)		probably null	Het
H6pd	T	C	4: 150,067,030 (GRCm39)	E452G	possibly damaging	Het
Herc1	T	A	9: 66,294,120 (GRCm39)	Y487*	probably null	Het
Ifi30	T	A	8: 71,217,593 (GRCm39)		probably benign	Het
Klf13	G	A	7: 63,587,819 (GRCm39)	A159V	possibly damaging	Het
Med11	T	A	11: 70,344,052 (GRCm39)	M124K	possibly damaging	Het
Myom3	A	G	4: 135,515,737 (GRCm39)		probably benign	Het
Nat2	A	T	8: 67,954,456 (GRCm39)	I189F	probably damaging	Het
Nhlrc4	C	G	17: 26,162,658 (GRCm39)	G30R	probably damaging	Het
Nkx3-2	G	A	5: 41,919,470 (GRCm39)	R173C	probably damaging	Het
Nox3	T	C	17: 3,745,839 (GRCm39)	N23S	probably damaging	Het
Npr2	A	T	4: 43,646,991 (GRCm39)	Y708F	probably damaging	Het
Nsun2	A	G	13: 69,777,661 (GRCm39)	N409S	probably benign	Het
Nucb2	T	C	7: 116,135,086 (GRCm39)		probably benign	Het
Or13a26	T	C	7: 140,284,700 (GRCm39)	F179L	possibly damaging	Het
Or5be3	A	G	2: 86,864,226 (GRCm39)	F113S	probably damaging	Het
Or8b12	T	C	9: 37,657,513 (GRCm39)	F28L	probably benign	Het
Orai2	A	T	5: 136,190,453 (GRCm39)	V52D	probably damaging	Het
Pcyox1	A	T	6: 86,371,424 (GRCm39)	M154K	probably damaging	Het
Pik3r4	C	A	9: 105,531,175 (GRCm39)	T492K	possibly damaging	Het
Pmpca	T	A	2: 26,281,109 (GRCm39)	Y150N	probably damaging	Het
Ppp1r12b	G	T	1: 134,803,820 (GRCm39)	S446R	probably damaging	Het
Ptpdc1	A	G	13: 48,740,381 (GRCm39)	I289T	probably benign	Het
Pyroxd2	A	G	19: 42,716,081 (GRCm39)		probably benign	Het
Qrfpr	G	A	3: 36,243,708 (GRCm39)	T131M	probably damaging	Het
Rab33b	A	G	3: 51,400,838 (GRCm39)	Y104C	probably damaging	Het
Rad54l	G	T	4: 115,956,947 (GRCm39)		probably benign	Het
Rad9a	A	T	19: 4,247,359 (GRCm39)		probably null	Het
Slc1a5	A	T	7: 16,520,829 (GRCm39)	M233L	probably benign	Het
Slc47a2	C	T	11: 61,233,330 (GRCm39)	V67I	possibly damaging	Het
Slco1a5	T	A	6: 142,214,004 (GRCm39)	Y39F	probably benign	Het
Slfn5	T	C	11: 82,852,229 (GRCm39)	V785A	probably damaging	Het
Sp6	C	T	11: 96,912,370 (GRCm39)	P28S	possibly damaging	Het
Sptbn5	A	G	2: 119,893,156 (GRCm39)		probably null	Het
Sry	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	Y: 2,662,944 (GRCm39)		probably benign	Het
St8sia1	A	G	6: 142,774,980 (GRCm39)	W200R	probably damaging	Het
Stxbp1	C	A	2: 32,690,707 (GRCm39)		probably benign	Het
Syne1	A	G	10: 4,983,138 (GRCm39)		probably benign	Het
Tll1	C	T	8: 64,527,324 (GRCm39)	S399N	probably damaging	Het
Tmem209	A	C	6: 30,505,833 (GRCm39)	C114G	probably null	Het
Tmem25	C	T	9: 44,706,811 (GRCm39)		probably benign	Het
Tmem8b	T	C	4: 43,674,562 (GRCm39)	I282T	possibly damaging	Het
Trdmt1	T	A	2: 13,549,391 (GRCm39)	H18L	probably benign	Het
Trim63	A	G	4: 134,043,716 (GRCm39)	T60A	probably benign	Het
Trpv2	T	C	11: 62,475,502 (GRCm39)		probably null	Het
Ubr2	A	T	17: 47,249,579 (GRCm39)	I1591K	probably damaging	Het
Use1	A	T	8: 71,819,709 (GRCm39)		probably benign	Het
Zfp850	A	T	7: 27,684,642 (GRCm39)	C35S	possibly 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
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
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'- TCGAGCCAGCAAACAGGTCAGATG -3'
(R):5'- AAAGGATGAGCCTGGACGAGTCTC -3'

Sequencing Primer
(F):5'- CAGGTCAGATGGTAAAGTCTGTATG -3'
(R):5'- ctaagccatctctccagcc -3'

Posted On

2013-07-30