Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01701:Thsd7b'

104489

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Thsd7b

Ensembl Gene

ENSMUSG00000042581

Gene Name

thrombospondin, type I, domain containing 7B

Synonyms

1700074E13Rik, D130067I03Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

IGL01701

Quality Score

Status

Chromosome

Chromosomal Location

129273302-130219278 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129430928 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 33 (H33R)

Ref Sequence

ENSEMBL: ENSMUSP00000073220 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000040311
AA Change: H33R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041716
Gene: ENSMUSG00000042581
AA Change: H33R

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: H33R

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000073220
Gene: ENSMUSG00000042581
AA Change: H33R

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	T	G	12: 55,308,875		probably benign	Het
2410089E03Rik	T	C	15: 8,203,257		probably benign	Het
4930568D16Rik	A	G	2: 35,364,764	Y36H	possibly damaging	Het
Adgrv1	T	C	13: 81,419,631	D5141G	possibly damaging	Het
Adk	G	A	14: 21,103,854	E42K	probably damaging	Het
Akap1	C	A	11: 88,845,132	V268L	probably benign	Het
Arl6ip5	A	G	6: 97,210,813		probably benign	Het
Atrx	A	G	X: 105,830,920	S1945P	probably damaging	Het
Clec5a	G	A	6: 40,582,226		probably benign	Het
Cul3	G	T	1: 80,277,423	H6Q	probably damaging	Het
D11Wsu47e	T	C	11: 113,689,101	F441L	probably benign	Het
E330021D16Rik	T	A	6: 136,400,806	Y342F	probably damaging	Het
Fn1	T	C	1: 71,629,853		probably benign	Het
Furin	C	A	7: 80,392,492	V452F	probably benign	Het
Furin	T	A	7: 80,390,759	D777V	probably benign	Het
Hmgb4	G	A	4: 128,260,373	T134I	probably benign	Het
Ift74	A	T	4: 94,662,658	E349V	possibly damaging	Het
Igkv6-23	A	T	6: 70,260,896	L13Q	probably damaging	Het
Lekr1	A	T	3: 65,684,004	Y54F	probably damaging	Het
Lman1	A	T	18: 65,994,850	V241E	possibly damaging	Het
Mat1a	T	A	14: 41,114,815	D167E	probably benign	Het
Myl6	G	A	10: 128,492,097	A130V	probably damaging	Het
Myo9a	T	C	9: 59,884,594		probably null	Het
Nlrp4f	A	T	13: 65,199,409	W12R	probably damaging	Het
Nr1h4	T	C	10: 89,478,807	R276G	probably benign	Het
Olfr1026	C	A	2: 85,924,077	Q270K	possibly damaging	Het
Olfr1314	T	C	2: 112,092,506	N65S	possibly damaging	Het
Pag1	C	T	3: 9,693,826	E411K	probably damaging	Het
Rttn	A	G	18: 89,064,215	N1422D	probably damaging	Het
Ryr1	C	T	7: 29,059,810	R3345Q	probably damaging	Het
Slc12a8	T	C	16: 33,540,910	L85P	probably damaging	Het
Slc22a17	T	C	14: 54,907,261	H565R	probably damaging	Het
Slc46a3	T	C	5: 147,886,298	T245A	probably benign	Het
Tmem131	A	G	1: 36,808,237	V1260A	probably benign	Het
Tmem30a	A	T	9: 79,774,179	F236Y	probably damaging	Het
Trim30b	A	C	7: 104,366,051	Y43*	probably null	Het
Trpc3	T	C	3: 36,671,594	K78E	possibly damaging	Het
Twist2	A	T	1: 91,802,014	M130L	probably benign	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
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
R0184:Thsd7b	UTSW	1	129430964	missense	probably benign	0.00
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	synonymous	probably null
R1267:Thsd7b	UTSW	1	129628840	intron	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	synonymous	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
X0027:Thsd7b	UTSW	1	129596072	missense	probably benign	0.00

Posted On

2014-01-21