Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03397:Thsd7b'

421303

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

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

IGL03397

Quality Score

Status

Chromosome

Chromosomal Location

129201039-130147015 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129523901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 312 (R312G)

Ref Sequence

ENSEMBL: ENSMUSP00000073220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040311] [ENSMUST00000073527] [ENSMUST00000152305]

AlphaFold

Q6P4U0

Predicted Effect

probably benign
Transcript: ENSMUST00000040311
AA Change: R312G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000041716
Gene: ENSMUSG00000042581
AA Change: R312G

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: R312G

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000073220
Gene: ENSMUSG00000042581
AA Change: R312G

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

probably benign
Transcript: ENSMUST00000152305
AA Change: R235G

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

SMART Domains

Protein: ENSMUSP00000117750
Gene: ENSMUSG00000042581
AA Change: R235G

Domain	Start	End	E-Value	Type
Blast:TSP1	45	100	8e-25	BLAST
TSP1	105	156	2.47e-9	SMART
Blast:TSP1	213	261	2e-21	BLAST
TSP1	262	322	7e-9	SMART
Blast:TSP1	325	379	1e-13	BLAST

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,772,743 (GRCm39)	Y51F	probably benign	Het
Ankrd42	G	A	7: 92,268,762 (GRCm39)	L194F	probably damaging	Het
Ccdc81	G	T	7: 89,546,036 (GRCm39)	T56N	probably damaging	Het
Cdh10	T	C	15: 18,964,114 (GRCm39)	I92T	probably damaging	Het
Csta3	A	T	16: 36,033,984 (GRCm39)	I55F	probably damaging	Het
Eif2b4	A	G	5: 31,344,997 (GRCm39)	I550T	probably damaging	Het
Epb41l3	A	G	17: 69,555,687 (GRCm39)	Y304C	probably damaging	Het
Gm10244	A	G	6: 39,397,740 (GRCm39)		probably benign	Het
H2bc14	T	C	13: 21,906,551 (GRCm39)	I95T	possibly damaging	Het
Lrrc74a	T	C	12: 86,805,312 (GRCm39)	V378A	probably benign	Het
Mcm6	C	T	1: 128,272,039 (GRCm39)	D453N	probably damaging	Het
Mctp2	A	G	7: 71,909,025 (GRCm39)	L96P	probably damaging	Het
Nlrp5	G	A	7: 23,112,759 (GRCm39)	V139M	probably damaging	Het
Nrcam	T	G	12: 44,606,540 (GRCm39)	S429A	probably damaging	Het
Or5an11	C	A	19: 12,245,866 (GRCm39)	Q91K	probably benign	Het
Pdgfrb	A	T	18: 61,212,753 (GRCm39)	T886S	probably benign	Het
Rapgef5	T	A	12: 117,712,176 (GRCm39)	F754L	probably damaging	Het
Sbf1	T	C	15: 89,172,924 (GRCm39)	K1863R	probably damaging	Het
Sis	T	C	3: 72,843,212 (GRCm39)	T751A	probably benign	Het
Six3	G	T	17: 85,929,074 (GRCm39)	R136L	probably damaging	Het
Slc6a12	A	G	6: 121,334,004 (GRCm39)	D280G	probably damaging	Het
Sox2	A	G	3: 34,704,686 (GRCm39)	D41G	probably damaging	Het
Stxbp4	A	T	11: 90,431,060 (GRCm39)	L417M	probably damaging	Het
Tcam1	A	G	11: 106,176,212 (GRCm39)	I313V	probably benign	Het
Tex55	G	A	16: 38,649,055 (GRCm39)	P18L	probably damaging	Het
Tgm2	T	C	2: 157,962,178 (GRCm39)	Y547C	probably damaging	Het
Tmem94	G	T	11: 115,678,394 (GRCm39)		probably benign	Het
Usp39	A	G	6: 72,313,296 (GRCm39)	M298T	possibly damaging	Het
Vmn2r85	C	T	10: 130,261,263 (GRCm39)	C358Y	probably damaging	Het
Zscan18	A	T	7: 12,507,488 (GRCm39)	S497T	probably damaging	Het

Other mutations in Thsd7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Thsd7b	APN	1	129,523,571 (GRCm39)	missense	probably damaging	1.00
IGL00850:Thsd7b	APN	1	130,092,814 (GRCm39)	missense	probably benign	0.00
IGL00987:Thsd7b	APN	1	129,541,016 (GRCm39)	missense	probably damaging	1.00
IGL01068:Thsd7b	APN	1	129,523,883 (GRCm39)	missense	probably damaging	1.00
IGL01091:Thsd7b	APN	1	129,704,071 (GRCm39)	missense	probably benign	0.29
IGL01535:Thsd7b	APN	1	129,605,954 (GRCm39)	missense	possibly damaging	0.64
IGL01560:Thsd7b	APN	1	130,145,918 (GRCm39)	utr 3 prime	probably benign
IGL01701:Thsd7b	APN	1	129,358,665 (GRCm39)	missense	probably benign	0.07
IGL01775:Thsd7b	APN	1	129,556,676 (GRCm39)	missense	probably damaging	0.99
IGL02077:Thsd7b	APN	1	129,744,419 (GRCm39)	missense	probably damaging	1.00
IGL02338:Thsd7b	APN	1	129,523,508 (GRCm39)	missense	probably damaging	1.00
IGL02340:Thsd7b	APN	1	130,087,369 (GRCm39)	missense	probably benign	0.01
IGL02404:Thsd7b	APN	1	129,540,888 (GRCm39)	missense	probably damaging	1.00
IGL02519:Thsd7b	APN	1	129,540,932 (GRCm39)	missense	probably benign	0.22
IGL02543:Thsd7b	APN	1	130,092,840 (GRCm39)	missense	probably benign	0.03
IGL02740:Thsd7b	APN	1	129,540,864 (GRCm39)	missense	probably damaging	0.99
IGL02793:Thsd7b	APN	1	129,879,130 (GRCm39)	missense	probably damaging	1.00
IGL02875:Thsd7b	APN	1	129,879,130 (GRCm39)	missense	probably damaging	1.00
IGL02986:Thsd7b	APN	1	129,843,352 (GRCm39)	missense	probably benign	0.01
IGL03108:Thsd7b	APN	1	130,138,013 (GRCm39)	missense	probably damaging	1.00
IGL03114:Thsd7b	APN	1	130,116,288 (GRCm39)	missense	probably benign	0.00
IGL03195:Thsd7b	APN	1	129,556,646 (GRCm39)	missense	probably damaging	1.00
IGL03291:Thsd7b	APN	1	129,688,092 (GRCm39)	missense	possibly damaging	0.94
IGL03399:Thsd7b	APN	1	129,556,622 (GRCm39)	missense	probably damaging	1.00
R0184:Thsd7b	UTSW	1	129,358,701 (GRCm39)	missense	probably benign	0.00
R0277:Thsd7b	UTSW	1	130,123,000 (GRCm39)	missense	probably benign	0.00
R0526:Thsd7b	UTSW	1	129,879,129 (GRCm39)	missense	probably damaging	1.00
R0633:Thsd7b	UTSW	1	130,116,263 (GRCm39)	missense	possibly damaging	0.78
R0746:Thsd7b	UTSW	1	130,116,268 (GRCm39)	missense	probably benign	0.00
R0784:Thsd7b	UTSW	1	129,523,096 (GRCm39)	splice site	probably benign
R1158:Thsd7b	UTSW	1	130,117,672 (GRCm39)	splice site	probably null
R1267:Thsd7b	UTSW	1	129,556,577 (GRCm39)	splice site	probably null
R1375:Thsd7b	UTSW	1	130,087,423 (GRCm39)	missense	probably damaging	1.00
R1565:Thsd7b	UTSW	1	129,523,778 (GRCm39)	missense	possibly damaging	0.94
R1728:Thsd7b	UTSW	1	129,605,920 (GRCm39)	missense	probably benign
R1728:Thsd7b	UTSW	1	129,595,674 (GRCm39)	missense	probably benign	0.00
R1728:Thsd7b	UTSW	1	129,556,628 (GRCm39)	missense	probably damaging	1.00
R1728:Thsd7b	UTSW	1	130,044,368 (GRCm39)	missense	probably benign
R1729:Thsd7b	UTSW	1	129,605,920 (GRCm39)	missense	probably benign
R1729:Thsd7b	UTSW	1	129,595,674 (GRCm39)	missense	probably benign	0.00
R1729:Thsd7b	UTSW	1	129,556,628 (GRCm39)	missense	probably damaging	1.00
R1729:Thsd7b	UTSW	1	130,044,368 (GRCm39)	missense	probably benign
R1730:Thsd7b	UTSW	1	129,605,920 (GRCm39)	missense	probably benign
R1730:Thsd7b	UTSW	1	129,595,674 (GRCm39)	missense	probably benign	0.00
R1730:Thsd7b	UTSW	1	129,556,628 (GRCm39)	missense	probably damaging	1.00
R1730:Thsd7b	UTSW	1	130,044,368 (GRCm39)	missense	probably benign
R1739:Thsd7b	UTSW	1	129,595,674 (GRCm39)	missense	probably benign	0.00
R1739:Thsd7b	UTSW	1	129,556,628 (GRCm39)	missense	probably damaging	1.00
R1739:Thsd7b	UTSW	1	130,044,368 (GRCm39)	missense	probably benign
R1739:Thsd7b	UTSW	1	129,605,920 (GRCm39)	missense	probably benign
R1762:Thsd7b	UTSW	1	129,595,674 (GRCm39)	missense	probably benign	0.00
R1762:Thsd7b	UTSW	1	129,556,628 (GRCm39)	missense	probably damaging	1.00
R1762:Thsd7b	UTSW	1	130,044,368 (GRCm39)	missense	probably benign
R1762:Thsd7b	UTSW	1	130,030,813 (GRCm39)	missense	possibly damaging	0.92
R1762:Thsd7b	UTSW	1	129,605,920 (GRCm39)	missense	probably benign
R1783:Thsd7b	UTSW	1	129,605,920 (GRCm39)	missense	probably benign
R1783:Thsd7b	UTSW	1	129,595,674 (GRCm39)	missense	probably benign	0.00
R1783:Thsd7b	UTSW	1	129,556,628 (GRCm39)	missense	probably damaging	1.00
R1783:Thsd7b	UTSW	1	130,044,368 (GRCm39)	missense	probably benign
R1784:Thsd7b	UTSW	1	129,595,674 (GRCm39)	missense	probably benign	0.00
R1784:Thsd7b	UTSW	1	129,556,628 (GRCm39)	missense	probably damaging	1.00
R1784:Thsd7b	UTSW	1	130,044,368 (GRCm39)	missense	probably benign
R1784:Thsd7b	UTSW	1	129,605,920 (GRCm39)	missense	probably benign
R1785:Thsd7b	UTSW	1	129,605,920 (GRCm39)	missense	probably benign
R1785:Thsd7b	UTSW	1	129,595,674 (GRCm39)	missense	probably benign	0.00
R1785:Thsd7b	UTSW	1	129,556,628 (GRCm39)	missense	probably damaging	1.00
R1785:Thsd7b	UTSW	1	130,044,368 (GRCm39)	missense	probably benign
R1812:Thsd7b	UTSW	1	129,686,347 (GRCm39)	missense	probably damaging	1.00
R1846:Thsd7b	UTSW	1	129,540,993 (GRCm39)	missense	probably damaging	1.00
R1908:Thsd7b	UTSW	1	129,605,846 (GRCm39)	missense	probably damaging	0.99
R1996:Thsd7b	UTSW	1	129,686,188 (GRCm39)	nonsense	probably null
R2199:Thsd7b	UTSW	1	130,145,895 (GRCm39)	missense	probably benign	0.04
R2483:Thsd7b	UTSW	1	130,030,809 (GRCm39)	missense	probably damaging	1.00
R2919:Thsd7b	UTSW	1	130,117,587 (GRCm39)	splice site	probably benign
R2935:Thsd7b	UTSW	1	129,605,824 (GRCm39)	missense	possibly damaging	0.83
R3113:Thsd7b	UTSW	1	129,977,599 (GRCm39)	missense	probably benign	0.23
R3236:Thsd7b	UTSW	1	130,145,855 (GRCm39)	nonsense	probably null
R3745:Thsd7b	UTSW	1	129,605,978 (GRCm39)	missense	probably benign	0.04
R3877:Thsd7b	UTSW	1	130,117,919 (GRCm39)	missense	possibly damaging	0.92
R3880:Thsd7b	UTSW	1	129,523,107 (GRCm39)	missense	probably damaging	1.00
R4110:Thsd7b	UTSW	1	130,044,356 (GRCm39)	missense	probably benign	0.18
R4112:Thsd7b	UTSW	1	130,044,356 (GRCm39)	missense	probably benign	0.18
R4255:Thsd7b	UTSW	1	129,688,024 (GRCm39)	missense	possibly damaging	0.79
R4621:Thsd7b	UTSW	1	129,358,652 (GRCm39)	missense	possibly damaging	0.47
R4703:Thsd7b	UTSW	1	129,977,646 (GRCm39)	intron	probably benign
R4732:Thsd7b	UTSW	1	129,540,923 (GRCm39)	missense	probably damaging	1.00
R4733:Thsd7b	UTSW	1	129,540,923 (GRCm39)	missense	probably damaging	1.00
R4755:Thsd7b	UTSW	1	130,138,001 (GRCm39)	missense	probably benign	0.01
R4805:Thsd7b	UTSW	1	130,116,276 (GRCm39)	missense	probably benign	0.04
R4840:Thsd7b	UTSW	1	129,523,581 (GRCm39)	missense	probably benign	0.00
R4879:Thsd7b	UTSW	1	130,116,236 (GRCm39)	missense	possibly damaging	0.62
R4936:Thsd7b	UTSW	1	129,605,882 (GRCm39)	missense	probably benign	0.00
R4972:Thsd7b	UTSW	1	130,116,309 (GRCm39)	missense	probably damaging	0.97
R5304:Thsd7b	UTSW	1	129,605,980 (GRCm39)	nonsense	probably null
R5422:Thsd7b	UTSW	1	129,849,071 (GRCm39)	missense	probably benign	0.41
R5495:Thsd7b	UTSW	1	129,523,570 (GRCm39)	missense	probably damaging	1.00
R5598:Thsd7b	UTSW	1	129,523,578 (GRCm39)	missense	probably damaging	1.00
R5620:Thsd7b	UTSW	1	130,090,673 (GRCm39)	critical splice donor site	probably null
R5638:Thsd7b	UTSW	1	129,523,270 (GRCm39)	missense	probably benign	0.00
R5640:Thsd7b	UTSW	1	130,044,408 (GRCm39)	nonsense	probably null
R5655:Thsd7b	UTSW	1	129,556,671 (GRCm39)	splice site	probably null
R5711:Thsd7b	UTSW	1	129,688,139 (GRCm39)	missense	probably damaging	1.00
R5823:Thsd7b	UTSW	1	129,605,821 (GRCm39)	missense	probably benign	0.00
R5888:Thsd7b	UTSW	1	130,138,057 (GRCm39)	nonsense	probably null
R5932:Thsd7b	UTSW	1	129,358,575 (GRCm39)	missense	probably benign
R6243:Thsd7b	UTSW	1	130,090,599 (GRCm39)	missense	probably benign	0.21
R6258:Thsd7b	UTSW	1	129,595,655 (GRCm39)	missense	probably benign
R6260:Thsd7b	UTSW	1	129,595,655 (GRCm39)	missense	probably benign
R6399:Thsd7b	UTSW	1	129,744,385 (GRCm39)	missense	probably benign	0.13
R6437:Thsd7b	UTSW	1	129,744,419 (GRCm39)	missense	probably damaging	1.00
R6719:Thsd7b	UTSW	1	130,087,451 (GRCm39)	splice site	probably null
R6785:Thsd7b	UTSW	1	129,358,644 (GRCm39)	missense	probably damaging	0.99
R7304:Thsd7b	UTSW	1	130,030,890 (GRCm39)	missense	probably benign	0.01
R7334:Thsd7b	UTSW	1	130,123,012 (GRCm39)	missense	probably benign	0.00
R7414:Thsd7b	UTSW	1	129,556,717 (GRCm39)	missense	probably damaging	0.99
R7673:Thsd7b	UTSW	1	129,843,487 (GRCm39)	splice site	probably null
R7683:Thsd7b	UTSW	1	129,523,683 (GRCm39)	missense	probably damaging	0.99
R7861:Thsd7b	UTSW	1	130,087,435 (GRCm39)	missense	probably benign	0.00
R8145:Thsd7b	UTSW	1	129,688,036 (GRCm39)	missense	probably damaging	1.00
R8241:Thsd7b	UTSW	1	130,117,688 (GRCm39)	missense	probably damaging	1.00
R8296:Thsd7b	UTSW	1	129,523,193 (GRCm39)	missense	probably benign	0.01
R8355:Thsd7b	UTSW	1	129,523,616 (GRCm39)	missense	probably damaging	1.00
R8507:Thsd7b	UTSW	1	129,605,790 (GRCm39)	missense	probably benign	0.21
R8520:Thsd7b	UTSW	1	129,849,157 (GRCm39)	missense	probably benign	0.07
R8555:Thsd7b	UTSW	1	129,523,191 (GRCm39)	missense	probably damaging	1.00
R8682:Thsd7b	UTSW	1	129,688,011 (GRCm39)	nonsense	probably null
R8981:Thsd7b	UTSW	1	129,523,187 (GRCm39)	missense	possibly damaging	0.88
R9029:Thsd7b	UTSW	1	130,087,426 (GRCm39)	missense	probably damaging	1.00
R9133:Thsd7b	UTSW	1	129,843,382 (GRCm39)	missense	probably benign	0.18
R9194:Thsd7b	UTSW	1	129,843,371 (GRCm39)	missense	possibly damaging	0.78
R9229:Thsd7b	UTSW	1	129,849,027 (GRCm39)	missense	probably damaging	1.00
R9239:Thsd7b	UTSW	1	130,087,453 (GRCm39)	critical splice donor site	probably null
R9460:Thsd7b	UTSW	1	130,090,674 (GRCm39)	critical splice donor site	probably null
R9466:Thsd7b	UTSW	1	130,122,866 (GRCm39)	missense	probably benign
R9588:Thsd7b	UTSW	1	130,108,223 (GRCm39)	missense	probably damaging	1.00
X0027:Thsd7b	UTSW	1	129,523,809 (GRCm39)	missense	probably benign	0.00
Z1176:Thsd7b	UTSW	1	129,556,648 (GRCm39)	missense	probably benign	0.17
Z1176:Thsd7b	UTSW	1	129,523,397 (GRCm39)	missense	probably benign	0.01
Z1176:Thsd7b	UTSW	1	129,523,253 (GRCm39)	missense	probably damaging	0.98
Z1176:Thsd7b	UTSW	1	130,108,161 (GRCm39)	missense	possibly damaging	0.79

Posted On

2016-08-02