Mutagenetix > Incidental Mutation

Incidental Mutation 'R8192:Thsd1'

635223

Institutional Source

Beutler Lab

Gene Symbol

Thsd1

Ensembl Gene

ENSMUSG00000031480

Gene Name

thrombospondin, type I, domain 1

Synonyms

4833423O18Rik, Tmtsp

MMRRC Submission

067615-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8192 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22717329-22751350 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 22733918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 322 (V322M)

Ref Sequence

ENSEMBL: ENSMUSP00000067701 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000069828
AA Change: V322M

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000067701
Gene: ENSMUSG00000031480
AA Change: V322M

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
AA Change: V322M

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000125118
Gene: ENSMUSG00000031480
AA Change: V322M

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
AA Change: V261M

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (64/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	A	T	8: 44,103,970 (GRCm39)	D558E	probably damaging	Het
Alox15	T	A	11: 70,241,736 (GRCm39)	E48D	probably benign	Het
Alyref	T	C	11: 120,488,522 (GRCm39)	E102G	probably benign	Het
Bach2	A	G	4: 32,562,294 (GRCm39)	S254G	probably benign	Het
Bcl2l13	A	G	6: 120,853,267 (GRCm39)	E184G	possibly damaging	Het
Best1	T	A	19: 9,963,664 (GRCm39)	I506F	possibly damaging	Het
Cd177	T	A	7: 24,453,727 (GRCm39)	D388V	probably benign	Het
Cep350	T	C	1: 155,816,529 (GRCm39)	K329E	possibly damaging	Het
Clasrp	T	C	7: 19,329,387 (GRCm39)	N65S	possibly damaging	Het
Cobl	T	C	11: 12,199,745 (GRCm39)	R1301G	probably benign	Het
Cul9	T	C	17: 46,849,273 (GRCm39)	E624G	probably benign	Het
Cyp21a1	A	T	17: 35,022,633 (GRCm39)	Y109N	probably damaging	Het
Dbf4	A	G	5: 8,448,134 (GRCm39)	S359P	probably benign	Het
Ddx60	A	G	8: 62,431,002 (GRCm39)	T846A	probably damaging	Het
Dnah11	A	G	12: 117,976,181 (GRCm39)	V2746A	probably benign	Het
Dnah12	G	A	14: 26,428,036 (GRCm39)	A221T	probably benign	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Dock2	A	G	11: 34,623,166 (GRCm39)		probably null	Het
Dpy19l1	T	C	9: 24,362,023 (GRCm39)	I119V	possibly damaging	Het
Dsg1c	A	G	18: 20,399,255 (GRCm39)	T120A	probably damaging	Het
Dzank1	T	C	2: 144,332,145 (GRCm39)	H397R	probably benign	Het
Gaa	G	T	11: 119,161,235 (GRCm39)	A93S	possibly damaging	Het
Galnt4	G	A	10: 98,945,118 (GRCm39)	R281H	probably benign	Het
Gm3250	T	C	10: 77,618,291 (GRCm39)	E29G	unknown	Het
H13	T	G	2: 152,511,522 (GRCm39)	D7E	probably benign	Het
H60c	T	A	10: 3,209,781 (GRCm39)	I140F	probably benign	Het
Hsd3b2	T	C	3: 98,620,908 (GRCm39)	N49S	probably benign	Het
Klhl11	G	T	11: 100,354,922 (GRCm39)	P300T	probably benign	Het
Knop1	C	A	7: 118,452,369 (GRCm39)	V117L		Het
Lgalsl2	T	A	7: 5,362,595 (GRCm39)	D75E	possibly damaging	Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Lrrc9	A	T	12: 72,496,163 (GRCm39)	I13F	probably damaging	Het
Macf1	A	G	4: 123,334,390 (GRCm39)	S4456P	probably damaging	Het
Mkrn1	A	T	6: 39,376,289 (GRCm39)	V439D	probably damaging	Het
Muc2	T	A	7: 141,305,215 (GRCm39)	V612D		Het
Nrxn3	A	G	12: 90,171,569 (GRCm39)	N967D	probably benign	Het
Oprm1	C	T	10: 6,788,417 (GRCm39)	P391S	probably benign	Het
Or10g7	T	A	9: 39,905,467 (GRCm39)	D120E	probably damaging	Het
Or5d43	A	C	2: 88,105,288 (GRCm39)	V35G	probably damaging	Het
Parp14	T	A	16: 35,691,584 (GRCm39)	E47V	probably benign	Het
Pikfyve	A	G	1: 65,285,554 (GRCm39)	E931G	possibly damaging	Het
Plcz1	A	T	6: 139,968,986 (GRCm39)	C151S	probably damaging	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Pramel27	G	A	4: 143,578,109 (GRCm39)	W123*	probably null	Het
Rbm26	A	G	14: 105,380,125 (GRCm39)		probably null	Het
Rffl	G	T	11: 82,703,549 (GRCm39)		probably null	Het
Sc5d	T	C	9: 42,171,094 (GRCm39)	I32V	probably benign	Het
Scube1	A	G	15: 83,513,583 (GRCm39)		probably null	Het
Shld2	A	T	14: 33,967,173 (GRCm39)	S680T	probably benign	Het
Slc12a6	A	G	2: 112,181,722 (GRCm39)	Y714C	probably damaging	Het
Slc26a3	A	G	12: 31,518,541 (GRCm39)	I670V	probably benign	Het
Slc8a3	A	T	12: 81,246,455 (GRCm39)	V866D	probably damaging	Het
Slco3a1	A	T	7: 73,970,338 (GRCm39)	M423K	probably benign	Het
Smc6	A	G	12: 11,349,336 (GRCm39)	E773G	probably benign	Het
Son	A	G	16: 91,452,437 (GRCm39)	T395A	possibly damaging	Het
Ss18l1	T	C	2: 179,701,155 (GRCm39)	S290P	probably damaging	Het
Tcof1	A	C	18: 60,976,375 (GRCm39)	V78G	probably damaging	Het
Tln2	A	T	9: 67,253,811 (GRCm39)	C753*	probably null	Het
Trav6n-6	T	A	14: 53,370,497 (GRCm39)	F83I	probably damaging	Het
Ttc39d	A	G	17: 80,524,007 (GRCm39)	H222R	probably damaging	Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Upf1	A	G	8: 70,793,294 (GRCm39)	L288P	probably benign	Het
Zfp442	T	C	2: 150,250,629 (GRCm39)	I424M	unknown	Het
Zfp580	T	C	7: 5,056,114 (GRCm39)	V100A	probably benign	Het
Zfpm1	C	A	8: 123,058,833 (GRCm39)	P151Q	probably damaging	Het
Zfr2	C	T	10: 81,078,649 (GRCm39)	P294S	possibly 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
R1900: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
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'- GGAAGTCACGTGTGAGTCTG -3'
(R):5'- ACACTAGTTGGTATCGCCTAAAGG -3'

Sequencing Primer
(F):5'- GGTACTGCCACCTCCTTGTG -3'
(R):5'- TTGGTATCGCCTAAAGGATGAATG -3'

Posted On

2020-07-13