Mutagenetix > Incidental Mutations

Incidental Mutation 'R7284:Thbs1'

565847

Institutional Source

Beutler Lab

Gene Symbol

Thbs1

Ensembl Gene

ENSMUSG00000040152

Gene Name

thrombospondin 1

Synonyms

TSP-1, TSP1, tbsp1, Thbs-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118111876-118127133 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118119356 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 604 (N604S)

Ref Sequence

ENSEMBL: ENSMUSP00000044903 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039559]

Predicted Effect

probably damaging
Transcript: ENSMUST00000039559
AA Change: N604S

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

SMART Domains

Protein: ENSMUSP00000044903
Gene: ENSMUSG00000040152
AA Change: N604S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
TSPN	24	221	2.68e-60	SMART
low complexity region	237	249	N/A	INTRINSIC
coiled coil region	292	315	N/A	INTRINSIC
VWC	319	373	3.6e-20	SMART
TSP1	383	430	4.21e-12	SMART
TSP1	439	491	3.04e-18	SMART
TSP1	496	548	8.6e-18	SMART
EGF	551	588	3.88e-3	SMART
EGF	592	646	1.69e1	SMART
EGF	650	691	7.13e-2	SMART
Pfam:TSP_3	728	763	5.8e-12	PFAM
Pfam:TSP_3	763	786	2.1e-5	PFAM
Pfam:TSP_3	787	822	3.3e-13	PFAM
Pfam:TSP_3	822	845	1.1e-6	PFAM
Pfam:TSP_3	846	883	2e-15	PFAM
Pfam:TSP_3	884	919	8.3e-13	PFAM
Pfam:TSP_3	920	954	4.9e-10	PFAM
Pfam:TSP_C	973	1170	1.4e-99	PFAM

Meta Mutation Damage Score

0.0707

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1. This protein has been shown to play roles in platelet aggregation, angiogenesis, and tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice show partial prenatal lethality, lordosis, kyphosis, leukocytosis, multiorgan inflammation, lung hemorrhage, pneumonia, resistance to radiation and ischemic injury, altered blood pressure and vasoactive stress responses, eye pathology, and corneal and lacrimal gland dysfunction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,734,583	H942Q	probably benign	Het
2900092C05Rik	G	T	7: 12,512,678	E34*	probably null	Het
4933421I07Rik	C	T	7: 42,447,980	R30H	probably damaging	Het
AB124611	C	A	9: 21,539,104	Q158K	probably benign	Het
Abcc3	C	T	11: 94,357,047	A1207T	probably benign	Het
Abcc9	A	T	6: 142,682,917	L367Q	probably damaging	Het
Aftph	T	C	11: 20,726,812	K266E	probably benign	Het
Akap9	T	A	5: 3,956,246	D190E	probably damaging	Het
Angel1	G	T	12: 86,720,524	D359E	probably damaging	Het
Ano6	T	C	15: 95,948,303	I474T	probably damaging	Het
Atp2c1	A	T	9: 105,520,809		probably null	Het
Best1	T	C	19: 9,986,373		probably null	Het
Bhlha9	A	G	11: 76,672,666	S40G	probably benign	Het
Cabin1	G	A	10: 75,694,834	R178C		Het
Ccnb1ip1	A	G	14: 50,792,279	Y109H	probably damaging	Het
Col14a1	T	C	15: 55,518,319	S1763P	probably damaging	Het
Dars	T	C	1: 128,372,267	T327A	probably benign	Het
Dhx8	T	C	11: 101,754,822	Y889H	probably damaging	Het
Dlg4	T	A	11: 70,042,082	Y523*	probably null	Het
Dnah10	A	T	5: 124,832,598	D4484V	probably benign	Het
Dnah9	A	T	11: 65,990,476	M2591K	probably damaging	Het
Dock2	T	C	11: 34,230,672	E1715G	probably benign	Het
Dym	A	G	18: 75,119,171	Y336C	possibly damaging	Het
Ezh2	A	G	6: 47,544,519	M439T	probably benign	Het
Folr1	T	G	7: 101,859,470	N83H	possibly damaging	Het
Ganab	T	C	19: 8,912,540	L656P	probably damaging	Het
Gmnc	T	C	16: 26,960,792	H161R	probably benign	Het
Gria4	A	G	9: 4,472,017	Y491H	probably damaging	Het
Heatr3	T	A	8: 88,156,774	C412S	possibly damaging	Het
Hmgcr	A	C	13: 96,652,665	V716G	probably damaging	Het
Igsf9	A	G	1: 172,496,912	D799G	probably damaging	Het
Ikbkb	T	C	8: 22,668,960	T501A	probably benign	Het
Kbtbd3	C	T	9: 4,330,690	R355*	probably null	Het
Kcna7	T	A	7: 45,409,228	I313N	probably damaging	Het
Kirrel	A	C	3: 87,083,387	D709E	probably benign	Het
Klb	T	A	5: 65,383,478	S971R	probably benign	Het
Krtap4-13	A	T	11: 99,809,412	C140*	probably null	Het
Lacc1	A	T	14: 77,030,869	L334Q	probably damaging	Het
Map6d1	T	A	16: 20,241,025	R97*	probably null	Het
Mgat5b	T	C	11: 116,944,920	S129P	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Myh9	G	A	15: 77,787,596	R432C	probably damaging	Het
Ncf4	A	G	15: 78,260,702	T236A	probably benign	Het
Neb	T	C	2: 52,258,792	D2581G	probably damaging	Het
Nid1	T	A	13: 13,489,090	M778K	probably benign	Het
Npas2	A	G	1: 39,324,467	D209G	probably benign	Het
Nploc4	C	T	11: 120,416,370	V181I	possibly damaging	Het
Nrcam	A	T	12: 44,564,034	I506F	probably damaging	Het
Olfr197	A	G	16: 59,185,968	*172Q	probably null	Het
Olfr692	T	A	7: 105,368,545	M73K	probably damaging	Het
Olfr803	T	C	10: 129,691,351	N230S	probably benign	Het
Pask	T	A	1: 93,320,669	Q970L	probably benign	Het
Pfkfb4	T	C	9: 109,011,240	I308T	possibly damaging	Het
Pla2g4d	A	T	2: 120,284,136	L38Q	probably damaging	Het
Pld1	A	G	3: 28,131,733	T1036A	possibly damaging	Het
Pom121l2	A	G	13: 21,982,605	T349A	probably damaging	Het
Ppp1r13b	A	G	12: 111,834,966	I551T	possibly damaging	Het
Prps1l1	A	G	12: 34,985,318	N144S	possibly damaging	Het
Prss56	A	G	1: 87,185,401	N179S	probably null	Het
Prune2	T	C	19: 17,119,886	L918P	probably damaging	Het
Ptprz1	C	T	6: 23,000,098	T729I	probably damaging	Het
Rrp7a	T	C	15: 83,121,870	T60A	probably damaging	Het
Snx27	A	G	3: 94,524,191	Y299H	probably damaging	Het
Spaca3	G	T	11: 80,864,021	R96L	possibly damaging	Het
Stat1	A	G	1: 52,148,922	N495S	probably benign	Het
Tas2r130	T	C	6: 131,630,307	N175S	probably benign	Het
Tcaf2	A	G	6: 42,629,538	L494P	probably damaging	Het
Tdrd12	C	A	7: 35,480,136		probably null	Het
Togaram1	T	C	12: 65,008,680	F1482L	probably benign	Het
Trhr2	A	T	8: 122,360,375	S109T	probably damaging	Het
Trpc3	A	T	3: 36,624,413	M841K	probably damaging	Het
Tubgcp5	C	T	7: 55,823,567	R798C	probably benign	Het
Xirp2	T	A	2: 67,516,829	M3138K	probably benign	Het
Zdhhc4	G	A	5: 143,321,891	T125I	probably benign	Het
Zfp239	T	A	6: 117,871,755	C151*	probably null	Het
Zfp473	C	T	7: 44,733,203	E569K	not run	Het
Zzef1	T	A	11: 72,886,690	D1782E	probably damaging	Het

Other mutations in Thbs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Thbs1	APN	2	118122973	missense	probably damaging	1.00
IGL00920:Thbs1	APN	2	118113201	missense	probably damaging	0.99
IGL01295:Thbs1	APN	2	118118327	missense	possibly damaging	0.88
IGL01649:Thbs1	APN	2	118114982	missense	probably benign
IGL02077:Thbs1	APN	2	118113110	missense	probably benign	0.00
IGL02251:Thbs1	APN	2	118113518	missense	probably benign	0.00
IGL02263:Thbs1	APN	2	118119880	missense	probably benign	0.06
IGL02392:Thbs1	APN	2	118114660	missense	probably benign
IGL02393:Thbs1	APN	2	118123099	missense	possibly damaging	0.87
IGL02411:Thbs1	APN	2	118114970	missense	probably benign
IGL02659:Thbs1	APN	2	118114792	missense	probably benign	0.29
Stark	UTSW	2	118121237	critical splice donor site	probably null
R0014:Thbs1	UTSW	2	118113350	missense	possibly damaging	0.51
R0042:Thbs1	UTSW	2	118122877	missense	probably damaging	1.00
R0064:Thbs1	UTSW	2	118123914	critical splice acceptor site	probably null
R0240:Thbs1	UTSW	2	118114393	missense	probably damaging	1.00
R0240:Thbs1	UTSW	2	118114393	missense	probably damaging	1.00
R0316:Thbs1	UTSW	2	118117574	missense	probably damaging	1.00
R0393:Thbs1	UTSW	2	118112991	missense	possibly damaging	0.69
R0678:Thbs1	UTSW	2	118122906	missense	probably damaging	1.00
R1037:Thbs1	UTSW	2	118123051	missense	probably damaging	1.00
R1440:Thbs1	UTSW	2	118114355	missense	probably damaging	1.00
R1454:Thbs1	UTSW	2	118122672	missense	probably damaging	1.00
R1571:Thbs1	UTSW	2	118119197	missense	probably damaging	0.99
R1702:Thbs1	UTSW	2	118113442	missense	probably benign
R2035:Thbs1	UTSW	2	118118340	critical splice donor site	probably null
R2068:Thbs1	UTSW	2	118123537	nonsense	probably null
R2171:Thbs1	UTSW	2	118122579	missense	probably damaging	1.00
R2844:Thbs1	UTSW	2	118117628	missense	probably benign	0.00
R2870:Thbs1	UTSW	2	118119378	missense	probably damaging	1.00
R2870:Thbs1	UTSW	2	118119378	missense	probably damaging	1.00
R3620:Thbs1	UTSW	2	118121159	missense	probably benign	0.05
R3621:Thbs1	UTSW	2	118121159	missense	probably benign	0.05
R3726:Thbs1	UTSW	2	118114710	missense	probably benign	0.02
R4499:Thbs1	UTSW	2	118119950	missense	possibly damaging	0.82
R4524:Thbs1	UTSW	2	118122979	missense	probably damaging	1.00
R4576:Thbs1	UTSW	2	118119416	missense	probably damaging	0.97
R4596:Thbs1	UTSW	2	118114755	missense	possibly damaging	0.80
R4646:Thbs1	UTSW	2	118118329	missense	probably benign	0.15
R4783:Thbs1	UTSW	2	118114792	missense	probably benign	0.04
R4836:Thbs1	UTSW	2	118115018	missense	possibly damaging	0.91
R4943:Thbs1	UTSW	2	118113449	missense	probably damaging	1.00
R4967:Thbs1	UTSW	2	118114778	missense	probably benign
R5014:Thbs1	UTSW	2	118120037	critical splice donor site	probably null
R5062:Thbs1	UTSW	2	118121237	critical splice donor site	probably null
R5363:Thbs1	UTSW	2	118122666	missense	probably damaging	1.00
R5420:Thbs1	UTSW	2	118113155	missense	possibly damaging	0.83
R5432:Thbs1	UTSW	2	118114683	missense	probably benign	0.25
R5788:Thbs1	UTSW	2	118122508	missense	probably damaging	1.00
R6221:Thbs1	UTSW	2	118119997	missense	probably damaging	1.00
R6327:Thbs1	UTSW	2	118112656	missense	unknown
R6466:Thbs1	UTSW	2	118119847	missense	probably damaging	1.00
R6480:Thbs1	UTSW	2	118119117	missense	probably damaging	1.00
R6794:Thbs1	UTSW	2	118120038	splice site	probably null
R6983:Thbs1	UTSW	2	118119952	missense	probably damaging	1.00
R7320:Thbs1	UTSW	2	118114957	missense	possibly damaging	0.80
R7467:Thbs1	UTSW	2	118118200	missense	probably damaging	1.00
R7542:Thbs1	UTSW	2	118121174	missense	probably damaging	1.00
R7552:Thbs1	UTSW	2	118113362	missense	possibly damaging	0.90
R7575:Thbs1	UTSW	2	118122928	missense	probably damaging	1.00
R7870:Thbs1	UTSW	2	118115027	missense	possibly damaging	0.46
R7943:Thbs1	UTSW	2	118119617	splice site	probably null
R8267:Thbs1	UTSW	2	118122513	missense	probably damaging	1.00
R8402:Thbs1	UTSW	2	118115878	missense	possibly damaging	0.88
RF039:Thbs1	UTSW	2	118122865	critical splice acceptor site	probably benign
RF054:Thbs1	UTSW	2	118122865	critical splice acceptor site	probably benign
X0019:Thbs1	UTSW	2	118112982	missense	probably damaging	1.00
Z1176:Thbs1	UTSW	2	118113479	missense	probably benign	0.34
Z1176:Thbs1	UTSW	2	118120977	missense	probably benign	0.25
Z1176:Thbs1	UTSW	2	118122922	missense	probably damaging	1.00
Z1177:Thbs1	UTSW	2	118117658	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CATCCAGTGCAAAGACGTCG -3'
(R):5'- GCCCAGAATATTCACACATCTGAG -3'

Sequencing Primer
(F):5'- TCCAGTGCAAAGACGTCGATGAG -3'
(R):5'- TCTGAGACTATGCAACCAGTG -3'

Posted On

2019-06-26