Mutagenetix > Incidental Mutation

Incidental Mutation 'R5640:Thsd7b'

440578

Institutional Source

Beutler Lab

Gene Symbol

Thsd7b

Ensembl Gene

ENSMUSG00000042581

Gene Name

thrombospondin, type I, domain containing 7B

Synonyms

1700074E13Rik, D130067I03Rik

MMRRC Submission

043289-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R5640 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129201039-130147015 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 130044408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 1129 (C1129*)

Ref Sequence

ENSEMBL: ENSMUSP00000073220 (fasta)

Gene Model

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

AlphaFold

Q6P4U0

Predicted Effect

probably null
Transcript: ENSMUST00000073527
AA Change: C1129*

SMART Domains

Protein: ENSMUSP00000073220
Gene: ENSMUSG00000042581
AA Change: C1129*

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: ENSMUST00000151700

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,861,511 (GRCm39)	Y220C	probably damaging	Het
Actl6a	A	G	3: 32,772,199 (GRCm39)	T170A	probably damaging	Het
Adamts8	T	C	9: 30,867,796 (GRCm39)	V540A	probably benign	Het
Aga	T	C	8: 53,964,919 (GRCm39)	L27P	probably damaging	Het
Agmat	T	A	4: 141,483,134 (GRCm39)	H189Q	probably damaging	Het
Alx3	C	A	3: 107,507,977 (GRCm39)	T162K	probably damaging	Het
Armc2	T	A	10: 41,887,894 (GRCm39)	I30L	possibly damaging	Het
Atp10d	T	G	5: 72,404,552 (GRCm39)	Y487D	probably damaging	Het
Atp13a4	C	T	16: 29,234,649 (GRCm39)	M908I	probably damaging	Het
B4galt2	T	G	4: 117,731,195 (GRCm39)	N322T	probably benign	Het
Bmal1	C	T	7: 112,907,888 (GRCm39)	P530L	probably damaging	Het
Brdt	A	T	5: 107,507,174 (GRCm39)	K525*	probably null	Het
Ccdc168	T	C	1: 44,101,087 (GRCm39)	I4V	probably benign	Het
Ces3a	T	A	8: 105,778,377 (GRCm39)	M246K	probably benign	Het
Chd9	T	A	8: 91,763,190 (GRCm39)	H2338Q	probably damaging	Het
Cyp3a16	T	A	5: 145,389,633 (GRCm39)	D244V	possibly damaging	Het
Dhrs9	C	A	2: 69,224,822 (GRCm39)	A170E	probably damaging	Het
Dlg5	T	C	14: 24,220,529 (GRCm39)	N550D	probably damaging	Het
Dnah8	C	T	17: 31,022,082 (GRCm39)	T3894I	probably damaging	Het
Dpys	T	C	15: 39,705,462 (GRCm39)	H217R	probably damaging	Het
Dpysl2	C	T	14: 67,071,817 (GRCm39)	V108I	probably benign	Het
Eprs1	A	G	1: 185,106,381 (GRCm39)	T199A	probably benign	Het
Fads1	A	G	19: 10,163,767 (GRCm39)	D183G	probably damaging	Het
Fam110b	T	G	4: 5,798,689 (GRCm39)	Y36D	probably damaging	Het
Fbxl21	G	A	13: 56,685,194 (GRCm39)	D407N	probably benign	Het
Fuca2	G	A	10: 13,383,174 (GRCm39)		probably null	Het
Gnas	C	A	2: 174,126,764 (GRCm39)	R100S	probably benign	Het
Gse1	A	G	8: 121,289,416 (GRCm39)	H90R	possibly damaging	Het
Hoxc10	G	T	15: 102,875,702 (GRCm39)	C137F	probably benign	Het
Ipp	T	G	4: 116,377,886 (GRCm39)	L252R	possibly damaging	Het
Jmjd1c	T	A	10: 67,061,857 (GRCm39)	S1403R	probably benign	Het
Kif19a	A	G	11: 114,670,041 (GRCm39)	M79V	probably benign	Het
Lipo4	T	C	19: 33,478,986 (GRCm39)	T285A	possibly damaging	Het
Lrrc66	A	T	5: 73,765,977 (GRCm39)	D355E	probably benign	Het
Lrsam1	T	A	2: 32,835,864 (GRCm39)	Q301L	probably benign	Het
Med6	C	T	12: 81,628,628 (GRCm39)	R138Q	probably damaging	Het
Nlrc5	A	G	8: 95,202,421 (GRCm39)	T174A	probably benign	Het
Nrbp1	C	T	5: 31,406,929 (GRCm39)	R322W	possibly damaging	Het
Or10ak14	T	A	4: 118,610,986 (GRCm39)	T250S	probably benign	Het
Or11g24	C	A	14: 50,662,111 (GRCm39)	A45D	probably benign	Het
Or4a47	T	A	2: 89,666,282 (GRCm39)	E2D	probably benign	Het
Pde3a	A	G	6: 141,429,641 (GRCm39)	E734G	probably damaging	Het
Pgap6	C	T	17: 26,337,846 (GRCm39)	T410I	possibly damaging	Het
Pnpla7	C	T	2: 24,893,013 (GRCm39)	T167I	possibly damaging	Het
Pop7	T	C	5: 137,500,321 (GRCm39)	N4S	possibly damaging	Het
Ppm1h	C	A	10: 122,618,183 (GRCm39)	P114Q	probably benign	Het
Prdm16	T	C	4: 154,426,367 (GRCm39)	T473A	probably benign	Het
Prdm6	T	C	18: 53,669,813 (GRCm39)		probably null	Het
Prkdc	T	G	16: 15,647,633 (GRCm39)	W3686G	possibly damaging	Het
Ptchd4	C	A	17: 42,814,026 (GRCm39)	H642Q	possibly damaging	Het
Rad1	A	G	15: 10,496,009 (GRCm39)	Y228C	possibly damaging	Het
Rgs22	G	A	15: 36,107,101 (GRCm39)	T56I	probably benign	Het
Rnf135	C	A	11: 80,084,733 (GRCm39)	H169N	probably benign	Het
Rnft1	C	T	11: 86,377,319 (GRCm39)	Q128*	probably null	Het
Sez6	T	C	11: 77,864,585 (GRCm39)		probably benign	Het
Sh3rf3	A	G	10: 58,649,769 (GRCm39)	S125G	probably benign	Het
Sik2	T	C	9: 50,826,806 (GRCm39)	E295G	possibly damaging	Het
Themis	A	G	10: 28,739,372 (GRCm39)	Q614R	probably damaging	Het
Tmem68	A	T	4: 3,569,512 (GRCm39)	F59L	probably benign	Het
Vmn2r107	A	G	17: 20,595,426 (GRCm39)	T660A	probably damaging	Het
Vwa5b2	G	T	16: 20,416,292 (GRCm39)	C484F	probably damaging	Het
Zfp418	T	A	7: 7,184,980 (GRCm39)	C314*	probably null	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
IGL03397:Thsd7b	APN	1	129,523,901 (GRCm39)	missense	probably benign	0.17
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
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

Predicted Primers

PCR Primer
(F):5'- ACTTATCCTGTCGGGGTTCC -3'
(R):5'- CCCTTCAAGTTATGTGTGGGTTCC -3'

Sequencing Primer
(F):5'- CGGGGTTCCTTATTGAGTTATCAC -3'
(R):5'- GGGTTCCTGGGAAATATTCTTTTC -3'

Posted On

2016-11-08