Mutagenetix > Incidental Mutation

Incidental Mutation 'R0184:Thsd7b'

23913

Institutional Source

Beutler Lab

Gene Symbol

Thsd7b

Ensembl Gene

ENSMUSG00000042581

Gene Name

thrombospondin, type I, domain containing 7B

Synonyms

1700074E13Rik, D130067I03Rik

MMRRC Submission

038449-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R0184 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129273302-130219278 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129430964 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 45 (K45R)

Ref Sequence

ENSEMBL: ENSMUSP00000073220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040311] [ENSMUST00000073527]

AlphaFold

Q6P4U0

Predicted Effect

probably benign
Transcript: ENSMUST00000040311
AA Change: K45R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000041716
Gene: ENSMUSG00000042581
AA Change: K45R

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
Blast:TSP1	43	98	3e-29	BLAST
Blast:TSP1	122	177	7e-24	BLAST
TSP1	182	233	2.47e-9	SMART
Blast:TSP1	290	338	1e-20	BLAST
TSP1	339	399	7e-9	SMART
Blast:TSP1	402	482	1e-27	BLAST
TSP1	487	543	2.12e-1	SMART
TSP1	604	661	3.9e-7	SMART
TSP1	664	735	2.73e-2	SMART
TSP1	740	796	1.01e-5	SMART
Blast:TSP1	799	869	4e-35	BLAST
TSP1	874	922	9.68e-3	SMART
TSP1	952	999	2.42e0	SMART
TSP1	1004	1051	1.15e-4	SMART
transmembrane domain	1070	1092	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000073527
AA Change: K45R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000073220
Gene: ENSMUSG00000042581
AA Change: K45R

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
Blast:TSP1	43	98	5e-29	BLAST
Blast:TSP1	122	177	9e-24	BLAST
TSP1	182	233	2.47e-9	SMART
TSP1	339	399	7e-9	SMART
Blast:TSP1	402	482	2e-27	BLAST
TSP1	487	543	2.12e-1	SMART
TSP1	604	661	3.9e-7	SMART
TSP1	664	735	2.73e-2	SMART
TSP1	740	796	1.01e-5	SMART
Blast:TSP1	799	869	6e-35	BLAST
TSP1	874	922	9.68e-3	SMART
TSP1	952	999	2.42e0	SMART
TSP1	1004	1059	3.96e-8	SMART
TSP1	1062	1126	1.73e0	SMART
TSP1	1131	1182	6.05e-4	SMART
TSP1	1185	1246	9.52e-1	SMART
TSP1	1251	1303	3.21e-8	SMART
TSP1	1304	1369	5.52e-1	SMART
TSP1	1374	1432	3.92e-2	SMART
transmembrane domain	1558	1580	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140629

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148051

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.9%

Validation Efficiency

66% (50/76)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,419,250	V131F	probably damaging	Het
Adam28	T	C	14: 68,637,373	D285G	probably benign	Het
Akr1c13	A	G	13: 4,194,056	E36G	probably damaging	Het
Antxr2	A	G	5: 97,980,030	L214S	probably damaging	Het
Arhgap26	T	A	18: 38,617,673	D46E	unknown	Het
Armc9	T	C	1: 86,198,370	L61P	probably damaging	Het
Bicc1	C	A	10: 71,079,215	R73L	probably benign	Het
Calm2	T	C	17: 87,435,841	N43S	probably benign	Het
Cct7	A	G	6: 85,461,554	D105G	probably null	Het
Cdk18	T	C	1: 132,118,538	N215D	probably benign	Het
Cep126	T	C	9: 8,103,395	T205A	probably benign	Het
Cfap57	A	T	4: 118,599,012	I495N	probably damaging	Het
Cyp2b9	T	A	7: 26,187,007	C152*	probably null	Het
Dab2ip	G	A	2: 35,718,791	R579H	probably damaging	Het
Dnah8	T	C	17: 30,683,683	V905A	probably benign	Het
Eif4h	C	A	5: 134,625,375	D134Y	possibly damaging	Het
Espl1	T	A	15: 102,299,216	S372T	probably benign	Het
Fat2	T	A	11: 55,296,288	H1244L	probably damaging	Het
Fbxo11	T	A	17: 88,008,673	N443I	probably benign	Het
Git2	G	A	5: 114,739,037	T128M	possibly damaging	Het
Gm10985	T	A	3: 53,845,258	Y21N	probably damaging	Het
Gm12790	A	T	4: 101,967,614	Y152*	probably null	Het
Heatr5a	T	C	12: 51,909,969	D1115G	probably benign	Het
Hipk2	T	C	6: 38,718,931	N726S	possibly damaging	Het
Hrg	T	C	16: 22,953,771		probably null	Het
Iars	T	G	13: 49,722,212	S792A	probably benign	Het
Igf1r	A	G	7: 68,226,193	N1301S	possibly damaging	Het
Il22	A	T	10: 118,205,606	I75F	probably damaging	Het
Ilkap	T	C	1: 91,376,305		probably benign	Het
Ints13	A	T	6: 146,555,044	Y435N	probably benign	Het
Ints8	A	C	4: 11,218,637	S797A	probably benign	Het
Itgad	T	A	7: 128,189,231	D405E	probably benign	Het
Itgam	A	T	7: 128,086,058	I448F	probably damaging	Het
Klk1	C	T	7: 44,228,749	T41I	possibly damaging	Het
Mcrip1	T	C	11: 120,544,884	M1V	probably null	Het
Mdga1	A	G	17: 29,852,442	Y128H	probably damaging	Het
Mtor	G	T	4: 148,464,971	R604L	probably benign	Het
Olfr1170	A	T	2: 88,224,780	L84*	probably null	Het
Olfr656	T	C	7: 104,618,240	V187A	probably damaging	Het
Pcdhb7	T	A	18: 37,343,390	D526E	probably benign	Het
Pip4k2a	T	C	2: 18,889,128	D139G	probably damaging	Het
Pkp3	A	C	7: 141,088,367	N536T	probably benign	Het
Pla2g4c	T	A	7: 13,356,220	S524T	probably benign	Het
Pno1	T	C	11: 17,211,127	E69G	probably benign	Het
Pold1	C	T	7: 44,541,715	V231M	probably benign	Het
Poli	A	G	18: 70,522,731	S248P	probably damaging	Het
Ppox	C	T	1: 171,279,552	S138N	probably damaging	Het
Psg20	T	C	7: 18,685,976	E6G	probably null	Het
Rbmx	C	T	X: 57,391,566		probably null	Het
Rln1	T	A	19: 29,331,936	K148*	probably null	Het
Rnf213	C	T	11: 119,414,521	T526I	probably damaging	Het
Rps6kc1	A	T	1: 190,799,093	V904E	probably null	Het
Sf3b2	T	A	19: 5,283,672	I633F	probably damaging	Het
Sfswap	T	A	5: 129,507,189	I189N	probably damaging	Het
Smarca2	T	A	19: 26,692,249	Y973*	probably null	Het
Spink5	G	A	18: 44,003,198	D559N	probably benign	Het
Spty2d1	C	T	7: 46,997,574	V536I	possibly damaging	Het
Tbx3	T	C	5: 119,675,562	I221T	probably damaging	Het
Tcf20	T	A	15: 82,852,300	D1650V	probably damaging	Het
Tirap	A	G	9: 35,189,194	S65P	probably benign	Het
Trim25	C	T	11: 88,999,640	P51L	probably damaging	Het
Trim61	T	C	8: 65,014,417	N64S	probably benign	Het
Twf1	T	A	15: 94,581,067		probably null	Het
Ubr4	A	C	4: 139,445,262	T1692P	probably damaging	Het
Usp3	A	G	9: 66,562,581	M86T	probably damaging	Het
Utrn	T	C	10: 12,667,618	D1762G	probably benign	Het
V1rd19	T	A	7: 24,003,207	F33I	probably benign	Het
Vmn2r52	T	C	7: 10,159,338	S625G	probably damaging	Het
Vmn2r90	G	A	17: 17,726,877	W472*	probably null	Het
Vrk2	C	A	11: 26,550,046	A56S	probably damaging	Het
Yeats2	C	T	16: 20,203,685	P620S	possibly damaging	Het
Zbtb21	C	T	16: 97,950,513	D171N	probably damaging	Het
Zeb1	A	T	18: 5,766,808	I440F	probably damaging	Het
Zfp292	A	G	4: 34,819,563	I253T	probably damaging	Het

Other mutations in Thsd7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Thsd7b	APN	1	129595834	missense	probably damaging	1.00
IGL00850:Thsd7b	APN	1	130165077	missense	probably benign	0.00
IGL00987:Thsd7b	APN	1	129613279	missense	probably damaging	1.00
IGL01068:Thsd7b	APN	1	129596146	missense	probably damaging	1.00
IGL01091:Thsd7b	APN	1	129776334	missense	probably benign	0.29
IGL01535:Thsd7b	APN	1	129678217	missense	possibly damaging	0.64
IGL01560:Thsd7b	APN	1	130218181	utr 3 prime	probably benign
IGL01701:Thsd7b	APN	1	129430928	missense	probably benign	0.07
IGL01775:Thsd7b	APN	1	129628939	missense	probably damaging	0.99
IGL02077:Thsd7b	APN	1	129816682	missense	probably damaging	1.00
IGL02338:Thsd7b	APN	1	129595771	missense	probably damaging	1.00
IGL02340:Thsd7b	APN	1	130159632	missense	probably benign	0.01
IGL02404:Thsd7b	APN	1	129613151	missense	probably damaging	1.00
IGL02519:Thsd7b	APN	1	129613195	missense	probably benign	0.22
IGL02543:Thsd7b	APN	1	130165103	missense	probably benign	0.03
IGL02740:Thsd7b	APN	1	129613127	missense	probably damaging	0.99
IGL02793:Thsd7b	APN	1	129951393	missense	probably damaging	1.00
IGL02875:Thsd7b	APN	1	129951393	missense	probably damaging	1.00
IGL02986:Thsd7b	APN	1	129915615	missense	probably benign	0.01
IGL03108:Thsd7b	APN	1	130210276	missense	probably damaging	1.00
IGL03114:Thsd7b	APN	1	130188551	missense	probably benign	0.00
IGL03195:Thsd7b	APN	1	129628909	missense	probably damaging	1.00
IGL03291:Thsd7b	APN	1	129760355	missense	possibly damaging	0.94
IGL03397:Thsd7b	APN	1	129596164	missense	probably benign	0.17
IGL03399:Thsd7b	APN	1	129628885	missense	probably damaging	1.00
R0277:Thsd7b	UTSW	1	130195263	missense	probably benign	0.00
R0526:Thsd7b	UTSW	1	129951392	missense	probably damaging	1.00
R0633:Thsd7b	UTSW	1	130188526	missense	possibly damaging	0.78
R0746:Thsd7b	UTSW	1	130188531	missense	probably benign	0.00
R0784:Thsd7b	UTSW	1	129595359	splice site	probably benign
R1158:Thsd7b	UTSW	1	130189935	splice site	probably null
R1267:Thsd7b	UTSW	1	129628840	splice site	probably null
R1375:Thsd7b	UTSW	1	130159686	missense	probably damaging	1.00
R1565:Thsd7b	UTSW	1	129596041	missense	possibly damaging	0.94
R1728:Thsd7b	UTSW	1	129628891	missense	probably damaging	1.00
R1728:Thsd7b	UTSW	1	129667937	missense	probably benign	0.00
R1728:Thsd7b	UTSW	1	129678183	missense	probably benign
R1728:Thsd7b	UTSW	1	130116631	missense	probably benign
R1729:Thsd7b	UTSW	1	129628891	missense	probably damaging	1.00
R1729:Thsd7b	UTSW	1	129667937	missense	probably benign	0.00
R1729:Thsd7b	UTSW	1	129678183	missense	probably benign
R1729:Thsd7b	UTSW	1	130116631	missense	probably benign
R1730:Thsd7b	UTSW	1	129628891	missense	probably damaging	1.00
R1730:Thsd7b	UTSW	1	129667937	missense	probably benign	0.00
R1730:Thsd7b	UTSW	1	129678183	missense	probably benign
R1730:Thsd7b	UTSW	1	130116631	missense	probably benign
R1739:Thsd7b	UTSW	1	129628891	missense	probably damaging	1.00
R1739:Thsd7b	UTSW	1	129667937	missense	probably benign	0.00
R1739:Thsd7b	UTSW	1	129678183	missense	probably benign
R1739:Thsd7b	UTSW	1	130116631	missense	probably benign
R1762:Thsd7b	UTSW	1	129628891	missense	probably damaging	1.00
R1762:Thsd7b	UTSW	1	129667937	missense	probably benign	0.00
R1762:Thsd7b	UTSW	1	129678183	missense	probably benign
R1762:Thsd7b	UTSW	1	130103076	missense	possibly damaging	0.92
R1762:Thsd7b	UTSW	1	130116631	missense	probably benign
R1783:Thsd7b	UTSW	1	129628891	missense	probably damaging	1.00
R1783:Thsd7b	UTSW	1	129667937	missense	probably benign	0.00
R1783:Thsd7b	UTSW	1	129678183	missense	probably benign
R1783:Thsd7b	UTSW	1	130116631	missense	probably benign
R1784:Thsd7b	UTSW	1	129628891	missense	probably damaging	1.00
R1784:Thsd7b	UTSW	1	129667937	missense	probably benign	0.00
R1784:Thsd7b	UTSW	1	129678183	missense	probably benign
R1784:Thsd7b	UTSW	1	130116631	missense	probably benign
R1785:Thsd7b	UTSW	1	129628891	missense	probably damaging	1.00
R1785:Thsd7b	UTSW	1	129667937	missense	probably benign	0.00
R1785:Thsd7b	UTSW	1	129678183	missense	probably benign
R1785:Thsd7b	UTSW	1	130116631	missense	probably benign
R1812:Thsd7b	UTSW	1	129758610	missense	probably damaging	1.00
R1846:Thsd7b	UTSW	1	129613256	missense	probably damaging	1.00
R1908:Thsd7b	UTSW	1	129678109	missense	probably damaging	0.99
R1996:Thsd7b	UTSW	1	129758451	nonsense	probably null
R2199:Thsd7b	UTSW	1	130218158	missense	probably benign	0.04
R2483:Thsd7b	UTSW	1	130103072	missense	probably damaging	1.00
R2919:Thsd7b	UTSW	1	130189850	splice site	probably benign
R2935:Thsd7b	UTSW	1	129678087	missense	possibly damaging	0.83
R3113:Thsd7b	UTSW	1	130049862	missense	probably benign	0.23
R3236:Thsd7b	UTSW	1	130218118	nonsense	probably null
R3745:Thsd7b	UTSW	1	129678241	missense	probably benign	0.04
R3877:Thsd7b	UTSW	1	130190182	missense	possibly damaging	0.92
R3880:Thsd7b	UTSW	1	129595370	missense	probably damaging	1.00
R4110:Thsd7b	UTSW	1	130116619	missense	probably benign	0.18
R4112:Thsd7b	UTSW	1	130116619	missense	probably benign	0.18
R4255:Thsd7b	UTSW	1	129760287	missense	possibly damaging	0.79
R4621:Thsd7b	UTSW	1	129430915	missense	possibly damaging	0.47
R4703:Thsd7b	UTSW	1	130049909	intron	probably benign
R4732:Thsd7b	UTSW	1	129613186	missense	probably damaging	1.00
R4733:Thsd7b	UTSW	1	129613186	missense	probably damaging	1.00
R4755:Thsd7b	UTSW	1	130210264	missense	probably benign	0.01
R4805:Thsd7b	UTSW	1	130188539	missense	probably benign	0.04
R4840:Thsd7b	UTSW	1	129595844	missense	probably benign	0.00
R4879:Thsd7b	UTSW	1	130188499	missense	possibly damaging	0.62
R4936:Thsd7b	UTSW	1	129678145	missense	probably benign	0.00
R4972:Thsd7b	UTSW	1	130188572	missense	probably damaging	0.97
R5304:Thsd7b	UTSW	1	129678243	nonsense	probably null
R5422:Thsd7b	UTSW	1	129921334	missense	probably benign	0.41
R5495:Thsd7b	UTSW	1	129595833	missense	probably damaging	1.00
R5598:Thsd7b	UTSW	1	129595841	missense	probably damaging	1.00
R5620:Thsd7b	UTSW	1	130162936	critical splice donor site	probably null
R5638:Thsd7b	UTSW	1	129595533	missense	probably benign	0.00
R5640:Thsd7b	UTSW	1	130116671	nonsense	probably null
R5655:Thsd7b	UTSW	1	129628934	splice site	probably null
R5711:Thsd7b	UTSW	1	129760402	missense	probably damaging	1.00
R5823:Thsd7b	UTSW	1	129678084	missense	probably benign	0.00
R5888:Thsd7b	UTSW	1	130210320	nonsense	probably null
R5932:Thsd7b	UTSW	1	129430838	missense	probably benign
R6243:Thsd7b	UTSW	1	130162862	missense	probably benign	0.21
R6258:Thsd7b	UTSW	1	129667918	missense	probably benign
R6260:Thsd7b	UTSW	1	129667918	missense	probably benign
R6399:Thsd7b	UTSW	1	129816648	missense	probably benign	0.13
R6437:Thsd7b	UTSW	1	129816682	missense	probably damaging	1.00
R6719:Thsd7b	UTSW	1	130159714	splice site	probably null
R6785:Thsd7b	UTSW	1	129430907	missense	probably damaging	0.99
R7304:Thsd7b	UTSW	1	130103153	missense	probably benign	0.01
R7334:Thsd7b	UTSW	1	130195275	missense	probably benign	0.00
R7414:Thsd7b	UTSW	1	129628980	missense	probably damaging	0.99
R7673:Thsd7b	UTSW	1	129915750	splice site	probably null
R7683:Thsd7b	UTSW	1	129595946	missense	probably damaging	0.99
R7861:Thsd7b	UTSW	1	130159698	missense	probably benign	0.00
R8145:Thsd7b	UTSW	1	129760299	missense	probably damaging	1.00
R8241:Thsd7b	UTSW	1	130189951	missense	probably damaging	1.00
R8296:Thsd7b	UTSW	1	129595456	missense	probably benign	0.01
R8355:Thsd7b	UTSW	1	129595879	missense	probably damaging	1.00
R8507:Thsd7b	UTSW	1	129678053	missense	probably benign	0.21
R8520:Thsd7b	UTSW	1	129921420	missense	probably benign	0.07
R8555:Thsd7b	UTSW	1	129595454	missense	probably damaging	1.00
R8682:Thsd7b	UTSW	1	129760274	nonsense	probably null
R8981:Thsd7b	UTSW	1	129595450	missense	possibly damaging	0.88
R9029:Thsd7b	UTSW	1	130159689	missense	probably damaging	1.00
R9133:Thsd7b	UTSW	1	129915645	missense	probably benign	0.18
R9194:Thsd7b	UTSW	1	129915634	missense	possibly damaging	0.78
R9229:Thsd7b	UTSW	1	129921290	missense	probably damaging	1.00
R9239:Thsd7b	UTSW	1	130159716	critical splice donor site	probably null
R9460:Thsd7b	UTSW	1	130162937	critical splice donor site	probably null
R9466:Thsd7b	UTSW	1	130195129	missense	probably benign
R9588:Thsd7b	UTSW	1	130180486	missense	probably damaging	1.00
X0027:Thsd7b	UTSW	1	129596072	missense	probably benign	0.00
Z1176:Thsd7b	UTSW	1	129595516	missense	probably damaging	0.98
Z1176:Thsd7b	UTSW	1	129595660	missense	probably benign	0.01
Z1176:Thsd7b	UTSW	1	129628911	missense	probably benign	0.17
Z1176:Thsd7b	UTSW	1	130180424	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TGCTTTCAGGATTAGGCAAGTGAAGAG -3'
(R):5'- CATTGGCATGGATGGCAATTAAGCAG -3'

Sequencing Primer
(F):5'- GCTGAAAAATCTGAAGAATGTTTCTG -3'
(R):5'- cacacacacacacacacac -3'

Posted On

2013-04-16