Mutagenetix > Incidental Mutation

Incidental Mutation 'R4805:Thsd7b'

370597

Institutional Source

Beutler Lab

Gene Symbol

Thsd7b

Ensembl Gene

ENSMUSG00000042581

Gene Name

thrombospondin, type I, domain containing 7B

Synonyms

1700074E13Rik, D130067I03Rik

MMRRC Submission

041999-MU

Accession Numbers

Essential gene?

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

Stock #

R4805 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129201039-130147015 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130116276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1343 (V1343A)

Ref Sequence

ENSEMBL: ENSMUSP00000073220 (fasta)

Gene Model

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

AlphaFold

Q6P4U0

Predicted Effect

probably benign
Transcript: ENSMUST00000073527
AA Change: V1343A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000073220
Gene: ENSMUSG00000042581
AA Change: V1343A

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: ENSMUST00000140834

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.7%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 81,950,628 (GRCm39)	Y1508*	probably null	Het
4931414P19Rik	T	C	14: 54,832,911 (GRCm39)	E88G	probably benign	Het
Acaa1b	A	G	9: 118,986,014 (GRCm39)	S17P	probably benign	Het
Arhgef7	G	A	8: 11,881,552 (GRCm39)	E565K	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Bpnt1	T	A	1: 185,077,504 (GRCm39)		probably null	Het
Ccnt1	C	T	15: 98,442,189 (GRCm39)	V360I	probably benign	Het
Chd4	T	C	6: 125,105,908 (GRCm39)	S1829P	possibly damaging	Het
Dennd1b	A	T	1: 138,981,122 (GRCm39)	N112I	probably damaging	Het
Fat2	A	T	11: 55,174,805 (GRCm39)	D1969E	probably benign	Het
Flywch1	A	C	17: 23,979,591 (GRCm39)	D394E	probably benign	Het
Gal3st4	T	A	5: 138,263,733 (GRCm39)		probably null	Het
Gm14403	T	C	2: 177,200,492 (GRCm39)	L146P	probably damaging	Het
Gm5283	G	T	3: 17,285,123 (GRCm39)		noncoding transcript	Het
Gpr161	T	A	1: 165,134,029 (GRCm39)	L97Q	probably damaging	Het
Gstm2	A	T	3: 107,892,411 (GRCm39)	M105K	possibly damaging	Het
Hecw2	A	G	1: 53,880,018 (GRCm39)	Y1264H	probably damaging	Het
Ifi206	T	A	1: 173,308,952 (GRCm39)	Q348L	possibly damaging	Het
Ighv1-83	A	T	12: 115,927,489 (GRCm39)	M87K	possibly damaging	Het
Ighv2-7	A	T	12: 113,771,154 (GRCm39)	S44T	probably damaging	Het
Ipo7	T	A	7: 109,650,691 (GRCm39)	N884K	probably benign	Het
Itga2b	T	C	11: 102,358,692 (GRCm39)	N75S	probably benign	Het
Krt20	A	G	11: 99,319,811 (GRCm39)	V431A	unknown	Het
Krt24	A	T	11: 99,174,452 (GRCm39)	I205N	possibly damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrrc31	A	T	3: 30,745,446 (GRCm39)	L67*	probably null	Het
Lrrc37a	A	G	11: 103,395,135 (GRCm39)	F97L	probably benign	Het
Mapkap1	G	A	2: 34,487,434 (GRCm39)		probably null	Het
Mgat4d	T	G	8: 84,084,787 (GRCm39)		probably null	Het
Mrgprb3	C	T	7: 48,293,054 (GRCm39)	V166I	probably benign	Het
Myh11	T	A	16: 14,052,329 (GRCm39)	Q379L	possibly damaging	Het
Myh7	T	C	14: 55,222,590 (GRCm39)	S782G	probably benign	Het
Nobox	T	C	6: 43,282,053 (GRCm39)	D340G	probably damaging	Het
Ntn4	C	T	10: 93,480,362 (GRCm39)	R29C	probably damaging	Het
Or2t29	G	A	11: 58,433,396 (GRCm39)	T315I	probably benign	Het
Or5b101	T	A	19: 13,005,661 (GRCm39)	I11F	probably benign	Het
Pikfyve	T	A	1: 65,307,959 (GRCm39)	I1845N	probably damaging	Het
Pramel15	A	G	4: 144,103,590 (GRCm39)	Y179H	probably benign	Het
Rad21l	T	G	2: 151,509,927 (GRCm39)	H58P	probably damaging	Het
Scnn1g	T	C	7: 121,345,825 (GRCm39)	L316S	probably damaging	Het
Serpina5	G	A	12: 104,068,460 (GRCm39)	V174I	probably damaging	Het
Shank1	T	C	7: 43,993,135 (GRCm39)	S788P	unknown	Het
Shisal1	T	A	15: 84,301,397 (GRCm39)	H82L	probably damaging	Het
Snap47	A	G	11: 59,319,343 (GRCm39)	V265A	possibly damaging	Het
Steap3	T	A	1: 120,171,616 (GRCm39)	H163L	probably benign	Het
Sycp2	T	C	2: 178,035,754 (GRCm39)		probably benign	Het
Tet2	A	G	3: 133,173,076 (GRCm39)	F1729L	probably benign	Het
Thumpd2	G	A	17: 81,334,130 (GRCm39)	T486I	probably damaging	Het
Ttc41	G	T	10: 86,565,662 (GRCm39)	M405I	possibly damaging	Het
Ttn	T	C	2: 76,577,873 (GRCm39)	D24340G	probably damaging	Het
Vmn1r10	T	G	6: 57,090,602 (GRCm39)	F65V	possibly damaging	Het
Vmn2r118	G	T	17: 55,899,581 (GRCm39)	D774E	probably damaging	Het
Vmn2r13	C	T	5: 109,304,331 (GRCm39)	C700Y	probably damaging	Het
Wsb1	A	C	11: 79,131,217 (GRCm39)	M393R	possibly damaging	Het
Zmat3	A	G	3: 32,397,504 (GRCm39)	Y214H	probably benign	Het
Zswim3	C	T	2: 164,662,099 (GRCm39)	T193I	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAAACTCAGTGATGCTTTGTG -3'
(R):5'- TGTTTCTATACCCACAGTCCAAAC -3'

Sequencing Primer
(F):5'- AACTCAGTGATGCTTTGTGATCATG -3'
(R):5'- TACCCACAGTCCAAACACATTAAATC -3'

Posted On

2016-02-04