Mutagenetix > Incidental Mutation

Incidental Mutation 'R1900:Thsd1'

214198

Institutional Source

Beutler Lab

Gene Symbol

Thsd1

Ensembl Gene

ENSMUSG00000031480

Gene Name

thrombospondin, type I, domain 1

Synonyms

4833423O18Rik, Tmtsp

MMRRC Submission

039920-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1900 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22717329-22751350 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 22742334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069828] [ENSMUST00000160585] [ENSMUST00000162447]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000069828

SMART Domains

Protein: ENSMUSP00000067701
Gene: ENSMUSG00000031480

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
TSP1	342	392	4.55e-8	SMART
low complexity region	396	408	N/A	INTRINSIC
transmembrane domain	413	435	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160585

SMART Domains

Protein: ENSMUSP00000125118
Gene: ENSMUSG00000031480

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	343	355	N/A	INTRINSIC
transmembrane domain	360	382	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162447

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

Validation Efficiency

96% (100/104)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6330409D20Rik	T	C	2: 32,630,559 (GRCm39)		probably benign	Het
Ago4	T	C	4: 126,410,729 (GRCm39)	I221V	probably benign	Het
Ankfy1	C	T	11: 72,645,233 (GRCm39)	Q771*	probably null	Het
Ankrd50	T	C	3: 38,509,536 (GRCm39)	T944A	probably damaging	Het
Armh4	T	C	14: 50,008,040 (GRCm39)	T478A	probably damaging	Het
AU040320	A	C	4: 126,747,073 (GRCm39)		probably null	Het
Axdnd1	A	G	1: 156,208,344 (GRCm39)		probably null	Het
Cdadc1	A	T	14: 59,823,981 (GRCm39)	D170E	probably damaging	Het
Cep164	C	A	9: 45,721,123 (GRCm39)	R93L	probably damaging	Het
Cep250	T	C	2: 155,827,294 (GRCm39)		probably null	Het
Cfdp1	G	A	8: 112,495,361 (GRCm39)	R286*	probably null	Het
Chrdl2	A	G	7: 99,682,871 (GRCm39)	I377V	possibly damaging	Het
Cntrob	A	T	11: 69,198,880 (GRCm39)	S623T	probably benign	Het
Col6a5	C	T	9: 105,808,412 (GRCm39)	G879S	unknown	Het
Cyp2c38	T	A	19: 39,426,756 (GRCm39)	I182F	probably benign	Het
Dennd4a	T	C	9: 64,804,618 (GRCm39)	V1319A	probably damaging	Het
Dysf	T	G	6: 84,016,549 (GRCm39)	V70G	probably damaging	Het
Edn3	A	G	2: 174,603,398 (GRCm39)	T49A	possibly damaging	Het
Elac1	C	G	18: 73,872,316 (GRCm39)	L226F	probably damaging	Het
Eps8l3	A	G	3: 107,798,268 (GRCm39)	D445G	probably benign	Het
Fgf11	G	T	11: 69,692,279 (GRCm39)	T58K	probably benign	Het
Fstl5	T	A	3: 76,615,467 (GRCm39)	W843R	probably damaging	Het
Fyb2	A	G	4: 104,802,652 (GRCm39)	R185G	probably benign	Het
Gal3st2c	G	A	1: 93,936,766 (GRCm39)	R237H	probably damaging	Het
Galnt15	G	T	14: 31,771,822 (GRCm39)	R289L	probably damaging	Het
Garin4	T	A	1: 190,896,631 (GRCm39)	K4M	possibly damaging	Het
Gdf5	T	A	2: 155,784,001 (GRCm39)	D317V	probably damaging	Het
Gm7808	A	G	9: 19,839,410 (GRCm39)		probably benign	Het
Hcn3	T	C	3: 89,055,570 (GRCm39)	E559G	probably benign	Het
Hdlbp	A	T	1: 93,349,959 (GRCm39)		probably benign	Het
Hhip	T	C	8: 80,701,675 (GRCm39)	T620A	probably benign	Het
Hs3st3a1	T	C	11: 64,411,268 (GRCm39)	S269P	probably damaging	Het
Il17ra	A	T	6: 120,454,355 (GRCm39)		probably null	Het
Kif2a	T	C	13: 107,113,503 (GRCm39)	N417S	possibly damaging	Het
Klhl41	T	A	2: 69,504,963 (GRCm39)		probably benign	Het
L3mbtl4	G	T	17: 68,766,800 (GRCm39)	C169F	probably damaging	Het
Lap3	T	C	5: 45,669,252 (GRCm39)	F467S	probably damaging	Het
Lpar6	A	T	14: 73,476,579 (GRCm39)	Y180F	probably benign	Het
Lrig3	T	C	10: 125,838,262 (GRCm39)		probably benign	Het
Ltbp2	A	T	12: 84,877,432 (GRCm39)	S378T	probably damaging	Het
Ltf	T	C	9: 110,851,913 (GRCm39)	F117L	possibly damaging	Het
Med16	T	C	10: 79,734,765 (GRCm39)	E533G	probably damaging	Het
Meltf	T	C	16: 31,700,787 (GRCm39)		probably null	Het
Mphosph10	C	T	7: 64,030,776 (GRCm39)	E488K	possibly damaging	Het
Mroh1	A	G	15: 76,317,585 (GRCm39)	T812A	probably benign	Het
Mto1	T	C	9: 78,368,799 (GRCm39)		probably benign	Het
Ndst1	A	T	18: 60,845,793 (GRCm39)		probably null	Het
Ndst4	T	A	3: 125,491,544 (GRCm39)		probably null	Het
Nhlh1	A	T	1: 171,881,608 (GRCm39)	I86N	probably damaging	Het
Nme9	A	C	9: 99,341,827 (GRCm39)	D59A	probably damaging	Het
Nox4	A	T	7: 87,010,004 (GRCm39)	R402*	probably null	Het
Npr1	T	C	3: 90,369,495 (GRCm39)	D410G	probably damaging	Het
Nrip1	T	A	16: 76,088,927 (GRCm39)	T877S	probably benign	Het
Nsd2	A	G	5: 34,003,513 (GRCm39)	N221S	probably benign	Het
Ophn1	A	T	X: 97,769,665 (GRCm39)	Y181*	probably null	Het
Or13a28	A	T	7: 140,218,505 (GRCm39)	D297V	probably damaging	Het
Or1e17	C	A	11: 73,831,486 (GRCm39)	P138Q	possibly damaging	Het
Or4c123	T	C	2: 89,127,014 (GRCm39)	N200S	probably damaging	Het
Or51ac3	A	T	7: 103,213,814 (GRCm39)	L224*	probably null	Het
Or51f5	A	T	7: 102,424,538 (GRCm39)	H269L	probably benign	Het
Or5b109	T	A	19: 13,212,277 (GRCm39)	I221K	possibly damaging	Het
Or8c10	A	T	9: 38,279,360 (GRCm39)	I173L	probably benign	Het
Parp1	A	G	1: 180,424,904 (GRCm39)	K819R	probably damaging	Het
Parp9	T	C	16: 35,792,591 (GRCm39)	S829P	probably benign	Het
Pde6c	T	A	19: 38,150,388 (GRCm39)	F511Y	probably damaging	Het
Per3	G	T	4: 151,125,883 (GRCm39)	H145Q	probably damaging	Het
Pglyrp1	C	T	7: 18,624,151 (GRCm39)	R145W	probably damaging	Het
Piezo1	T	C	8: 123,209,384 (GRCm39)		probably benign	Het
Plb1	T	C	5: 32,444,191 (GRCm39)	I312T	probably benign	Het
Plin3	T	A	17: 56,586,824 (GRCm39)	T408S	possibly damaging	Het
Polr2a	A	T	11: 69,634,772 (GRCm39)	I636N	probably damaging	Het
Pramel51	A	C	12: 88,144,030 (GRCm39)	L261R	probably benign	Het
Prb1b	A	T	6: 132,291,661 (GRCm39)	L11Q	unknown	Het
Prex2	G	T	1: 11,232,590 (GRCm39)	E886*	probably null	Het
Proca1	A	T	11: 78,095,847 (GRCm39)	I73F	probably damaging	Het
Ptpn6	A	G	6: 124,705,896 (GRCm39)	S83P	probably benign	Het
Rtp1	G	T	16: 23,248,049 (GRCm39)	V41L	probably benign	Het
Scn4a	A	G	11: 106,218,359 (GRCm39)	I1035T	probably damaging	Het
Sell	A	T	1: 163,892,907 (GRCm39)	Y41F	probably damaging	Het
Serping1	C	T	2: 84,601,793 (GRCm39)	V226M	probably damaging	Het
Sf3b1	A	T	1: 55,037,347 (GRCm39)	D856E	possibly damaging	Het
Sfmbt1	T	A	14: 30,524,524 (GRCm39)	Y503N	probably damaging	Het
Slc16a1	T	A	3: 104,560,880 (GRCm39)	V395D	probably damaging	Het
Slc22a7	A	T	17: 46,749,157 (GRCm39)	D53E	probably benign	Het
Slc35b3	A	G	13: 39,144,587 (GRCm39)		probably null	Het
Slc6a1	T	C	6: 114,288,815 (GRCm39)	M274T	possibly damaging	Het
Slco1a5	A	G	6: 142,187,789 (GRCm39)	S517P	probably benign	Het
Smo	A	G	6: 29,736,055 (GRCm39)	R16G	unknown	Het
Srebf1	A	G	11: 60,094,312 (GRCm39)	L601P	probably damaging	Het
Sspo	A	G	6: 48,436,284 (GRCm39)	I1086M	probably benign	Het
Tas2r106	A	T	6: 131,655,373 (GRCm39)	N159K	probably damaging	Het
Tmeff1	T	C	4: 48,658,938 (GRCm39)		probably benign	Het
Tmem140	G	A	6: 34,849,838 (GRCm39)	C118Y	possibly damaging	Het
Tmem168	A	G	6: 13,583,070 (GRCm39)	C220R	probably benign	Het
Tox2	A	T	2: 163,118,087 (GRCm39)	N129Y	probably damaging	Het
Trappc12	C	T	12: 28,796,984 (GRCm39)	E183K	probably damaging	Het
Unc50	A	G	1: 37,477,880 (GRCm39)	Y254C	probably damaging	Het
Unk	T	G	11: 115,949,907 (GRCm39)	D691E	probably benign	Het
Uox	T	A	3: 146,316,134 (GRCm39)	V23D	probably damaging	Het
Vps13d	A	G	4: 144,853,176 (GRCm39)	C2313R	probably benign	Het
Zfp804b	T	A	5: 6,819,283 (GRCm39)	H1260L	probably damaging	Het
Zfyve26	A	G	12: 79,311,125 (GRCm39)	L147P	probably damaging	Het
Zmynd10	A	T	9: 107,427,236 (GRCm39)	Q288L	probably benign	Het
Zzef1	T	A	11: 72,739,540 (GRCm39)	D662E	probably damaging	Het

Other mutations in Thsd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01936:Thsd1	APN	8	22,742,247 (GRCm39)	missense	probably damaging	1.00
IGL02288:Thsd1	APN	8	22,749,565 (GRCm39)	missense	probably damaging	1.00
IGL02517:Thsd1	APN	8	22,733,454 (GRCm39)	missense	probably damaging	1.00
IGL02591:Thsd1	APN	8	22,748,743 (GRCm39)	missense	probably damaging	1.00
IGL03378:Thsd1	APN	8	22,733,794 (GRCm39)	missense	probably benign	0.13
R0137:Thsd1	UTSW	8	22,733,055 (GRCm39)	missense	probably damaging	1.00
R0507:Thsd1	UTSW	8	22,748,695 (GRCm39)	missense	probably damaging	1.00
R0854:Thsd1	UTSW	8	22,748,587 (GRCm39)	missense	probably damaging	0.99
R1109:Thsd1	UTSW	8	22,733,708 (GRCm39)	missense	possibly damaging	0.93
R1402:Thsd1	UTSW	8	22,749,384 (GRCm39)	missense	possibly damaging	0.68
R1402:Thsd1	UTSW	8	22,749,384 (GRCm39)	missense	possibly damaging	0.68
R1899:Thsd1	UTSW	8	22,742,334 (GRCm39)	splice site	probably benign
R2008:Thsd1	UTSW	8	22,749,247 (GRCm39)	missense	probably benign	0.23
R2048:Thsd1	UTSW	8	22,749,333 (GRCm39)	missense	probably benign	0.01
R2090:Thsd1	UTSW	8	22,749,673 (GRCm39)	missense	possibly damaging	0.95
R2165:Thsd1	UTSW	8	22,728,538 (GRCm39)	intron	probably benign
R2209:Thsd1	UTSW	8	22,748,887 (GRCm39)	missense	probably damaging	1.00
R3831:Thsd1	UTSW	8	22,733,132 (GRCm39)	missense	possibly damaging	0.92
R3833:Thsd1	UTSW	8	22,733,132 (GRCm39)	missense	possibly damaging	0.92
R3847:Thsd1	UTSW	8	22,749,427 (GRCm39)	missense	probably damaging	0.97
R4049:Thsd1	UTSW	8	22,733,180 (GRCm39)	missense	possibly damaging	0.75
R4454:Thsd1	UTSW	8	22,733,594 (GRCm39)	missense	probably damaging	1.00
R4659:Thsd1	UTSW	8	22,749,314 (GRCm39)	nonsense	probably null
R4997:Thsd1	UTSW	8	22,733,340 (GRCm39)	missense	probably damaging	0.98
R6440:Thsd1	UTSW	8	22,748,569 (GRCm39)	missense	possibly damaging	0.59
R6457:Thsd1	UTSW	8	22,733,363 (GRCm39)	missense	probably damaging	0.97
R6488:Thsd1	UTSW	8	22,733,733 (GRCm39)	missense	probably benign	0.36
R6519:Thsd1	UTSW	8	22,749,081 (GRCm39)	missense	probably damaging	1.00
R7267:Thsd1	UTSW	8	22,733,597 (GRCm39)	missense	probably benign	0.10
R7448:Thsd1	UTSW	8	22,733,349 (GRCm39)	missense	possibly damaging	0.89
R7698:Thsd1	UTSW	8	22,749,003 (GRCm39)	nonsense	probably null
R7733:Thsd1	UTSW	8	22,748,737 (GRCm39)	missense	probably damaging	1.00
R7792:Thsd1	UTSW	8	22,733,114 (GRCm39)	missense	probably damaging	0.99
R7894:Thsd1	UTSW	8	22,749,585 (GRCm39)	missense	probably damaging	0.99
R8181:Thsd1	UTSW	8	22,733,022 (GRCm39)	missense	probably damaging	0.99
R8192:Thsd1	UTSW	8	22,733,918 (GRCm39)	missense	probably benign	0.22
R8426:Thsd1	UTSW	8	22,733,654 (GRCm39)	missense	probably benign	0.01
R8775:Thsd1	UTSW	8	22,749,643 (GRCm39)	missense	possibly damaging	0.48
R8775-TAIL:Thsd1	UTSW	8	22,749,643 (GRCm39)	missense	possibly damaging	0.48
R9339:Thsd1	UTSW	8	22,733,898 (GRCm39)	missense	probably damaging	1.00
R9494:Thsd1	UTSW	8	22,733,268 (GRCm39)	missense	probably benign	0.00
R9550:Thsd1	UTSW	8	22,733,026 (GRCm39)	start gained	probably benign
X0023:Thsd1	UTSW	8	22,749,583 (GRCm39)	missense	probably damaging	1.00
Z1088:Thsd1	UTSW	8	22,742,235 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGTGCAGTTAAAATCCCG -3'
(R):5'- AGTTACTGTCCCAACTACTCCAG -3'

Sequencing Primer
(F):5'- GGGTGCAGTTAAAATCCCGATTCTC -3'
(R):5'- GCGTCTCAGACACTGCTAAG -3'

Posted On

2014-07-14