Mutagenetix > Incidental Mutation

Incidental Mutation 'R4947:Thbs3'

383480

Institutional Source

Beutler Lab

Gene Symbol

Thbs3

Ensembl Gene

ENSMUSG00000028047

Gene Name

thrombospondin 3

Synonyms

TSP3, Thbs-3

MMRRC Submission

042544-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.558) question?

Stock #

R4947 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

89122487-89134144 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89133738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 897 (Y897H)

Ref Sequence

ENSEMBL: ENSMUSP00000112912 (fasta)

Gene Model

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

AlphaFold

Q05895

Predicted Effect

probably damaging
Transcript: ENSMUST00000029682
AA Change: Y934H

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

SMART Domains

Protein: ENSMUSP00000029682
Gene: ENSMUSG00000028047
AA Change: Y934H

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

noncoding transcript
Transcript: ENSMUST00000102300

Predicted Effect

probably damaging
Transcript: ENSMUST00000119084
AA Change: Y897H

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

SMART Domains

Protein: ENSMUSP00000112912
Gene: ENSMUSG00000028047
AA Change: Y897H

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

noncoding transcript
Transcript: ENSMUST00000153129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144980

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

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

Meta Mutation Damage Score

0.9255

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.4%

Validation Efficiency

100% (88/88)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 130,959,343 (GRCm39)	H119L	probably damaging	Het
Acvr1c	T	A	2: 58,205,987 (GRCm39)	Q41L	probably benign	Het
Adamtsl1	A	T	4: 85,683,037 (GRCm39)	Q36L	possibly damaging	Het
Bcl2a1a	G	A	9: 88,839,335 (GRCm39)	E78K	probably damaging	Het
Cdk5rap2	A	G	4: 70,146,829 (GRCm39)		probably null	Het
Copg1	C	A	6: 87,880,455 (GRCm39)		probably benign	Het
Crb2	C	T	2: 37,685,343 (GRCm39)		probably benign	Het
Cstdc6	T	C	16: 36,142,127 (GRCm39)	Y83C	probably damaging	Het
Ctbp2	C	A	7: 132,601,012 (GRCm39)	G584C	probably damaging	Het
Cyp11b2	T	C	15: 74,723,419 (GRCm39)	N415S	possibly damaging	Het
D630003M21Rik	T	A	2: 158,028,116 (GRCm39)	T1095S	unknown	Het
D630045J12Rik	C	T	6: 38,125,478 (GRCm39)	R1512H	probably damaging	Het
Dnah5	T	A	15: 28,272,518 (GRCm39)	V1078E	probably benign	Het
Donson	A	T	16: 91,479,439 (GRCm39)	D366E	probably damaging	Het
Evpl	T	C	11: 116,114,201 (GRCm39)	E1163G	possibly damaging	Het
Fcgbp	A	G	7: 27,789,237 (GRCm39)	K601R	probably benign	Het
Fez1	A	C	9: 36,780,171 (GRCm39)	I323L	probably damaging	Het
Flacc1	T	A	1: 58,715,698 (GRCm39)	T173S	probably benign	Het
Fmnl2	T	G	2: 52,963,722 (GRCm39)	S285A	probably benign	Het
Frem1	A	G	4: 82,884,371 (GRCm39)	S1194P	probably damaging	Het
Gm10754	A	T	10: 97,518,010 (GRCm39)		probably benign	Het
Gm14226	A	T	2: 154,866,879 (GRCm39)	T279S	probably benign	Het
Gm16332	G	A	1: 139,793,730 (GRCm39)		noncoding transcript	Het
Gm21718	T	A	14: 51,553,416 (GRCm39)		noncoding transcript	Het
Gm9871	A	G	6: 101,773,734 (GRCm39)		noncoding transcript	Het
Grm1	A	G	10: 10,658,377 (GRCm39)	F371S	probably damaging	Het
Gtdc1	T	C	2: 44,481,968 (GRCm39)	I128V	probably null	Het
H2-Q3	T	A	17: 35,578,708 (GRCm39)		noncoding transcript	Het
Ibtk	T	C	9: 85,592,465 (GRCm39)	T998A	probably benign	Het
Ifi204	A	G	1: 173,583,316 (GRCm39)	S301P	probably damaging	Het
Kcnn1	C	A	8: 71,297,073 (GRCm39)	A545S	probably benign	Het
Keap1	T	G	9: 21,148,849 (GRCm39)	S53R	probably benign	Het
Lat	A	G	7: 125,967,110 (GRCm39)	V138A	probably benign	Het
Lrpprc	A	T	17: 85,078,966 (GRCm39)	N249K	probably benign	Het
Lrrc40	A	G	3: 157,769,472 (GRCm39)	I557V	probably benign	Het
Maml3	A	G	3: 51,763,960 (GRCm39)	F335L	probably benign	Het
Mcmbp	A	T	7: 128,314,420 (GRCm39)	D265E	probably damaging	Het
Me3	A	G	7: 89,282,222 (GRCm39)	H35R	probably benign	Het
Mif4gd	C	A	11: 115,500,463 (GRCm39)	V32L	probably benign	Het
Mlana	T	C	19: 29,677,551 (GRCm39)	S18P	probably damaging	Het
Mpnd	T	A	17: 56,317,268 (GRCm39)		probably benign	Het
Ms4a4b	T	C	19: 11,432,101 (GRCm39)	V74A	probably benign	Het
Mta2	T	C	19: 8,923,655 (GRCm39)	F133L	possibly damaging	Het
Myo5a	A	G	9: 75,030,330 (GRCm39)	M150V	probably damaging	Het
Nbr1	T	C	11: 101,465,903 (GRCm39)	V487A	probably benign	Het
Nos3	G	A	5: 24,582,853 (GRCm39)	C660Y	probably damaging	Het
Ocln	T	C	13: 100,676,223 (GRCm39)	D90G	probably damaging	Het
Or12d17	T	C	17: 37,777,634 (GRCm39)	V179A	probably damaging	Het
Or1e1c	C	T	11: 73,266,243 (GRCm39)	R223*	probably null	Het
Or52n5	A	G	7: 104,587,949 (GRCm39)	D72G	possibly damaging	Het
Or5h18	A	G	16: 58,847,808 (GRCm39)	L154P	probably damaging	Het
Pcdh7	A	G	5: 57,879,258 (GRCm39)	K938E	probably damaging	Het
Pcgf3	T	C	5: 108,635,827 (GRCm39)	F166L	probably benign	Het
Pid1	A	T	1: 84,015,981 (GRCm39)	V128E	possibly damaging	Het
Polr3a	A	C	14: 24,532,532 (GRCm39)	D187E	probably benign	Het
Prokr2	T	C	2: 132,215,573 (GRCm39)	D135G	probably damaging	Het
Rnf141	T	C	7: 110,424,527 (GRCm39)	T14A	possibly damaging	Het
Serinc1	T	C	10: 57,399,141 (GRCm39)	E254G	probably damaging	Het
Silc1	A	T	12: 27,210,227 (GRCm39)		noncoding transcript	Het
Skint11	T	C	4: 114,048,707 (GRCm39)	F11L	possibly damaging	Het
Slc22a28	T	C	19: 8,108,816 (GRCm39)	T109A	probably benign	Het
Sntg1	C	A	1: 8,853,022 (GRCm39)	V43L	probably damaging	Het
Sp140l2	G	A	1: 85,090,203 (GRCm39)	A124V	probably damaging	Het
Strn	T	C	17: 78,969,208 (GRCm39)	D398G	probably damaging	Het
Tacc2	A	T	7: 130,227,629 (GRCm39)	E1438V	probably damaging	Het
Tas2r139	A	G	6: 42,118,500 (GRCm39)	T211A	possibly damaging	Het
Tbkbp1	T	C	11: 97,029,770 (GRCm39)		probably benign	Het
Timm50	G	T	7: 28,009,469 (GRCm39)		probably benign	Het
Tmem132a	T	C	19: 10,844,298 (GRCm39)	Q100R	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Unc93b1	C	A	19: 3,985,871 (GRCm39)	T90K	probably benign	Het
Upk3bl	T	C	5: 136,086,099 (GRCm39)		probably benign	Het
Vmn2r112	T	A	17: 22,821,860 (GRCm39)	H179Q	probably benign	Het
Vmn2r57	A	T	7: 41,049,919 (GRCm39)	F610Y	probably damaging	Het
Vmn2r80	T	G	10: 79,030,532 (GRCm39)	L786R	probably damaging	Het
Zc3h14	A	G	12: 98,726,083 (GRCm39)	T323A	probably benign	Het
Zfp532	T	C	18: 65,758,137 (GRCm39)	I690T	possibly damaging	Het
Zfp729b	T	C	13: 67,744,791 (GRCm39)	N47S	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
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'- TTCCCTCAGGACTAGAGAGC -3'
(R):5'- CAATGGCCAAAGGTCTCCGATC -3'

Sequencing Primer
(F):5'- AGTGGCACAGTGCTCAC -3'
(R):5'- TCCGATCAGGATCTGGGTC -3'

Posted On

2016-04-27