Mutagenetix > Incidental Mutation

Incidental Mutation 'R7698:Thsd1'

593783

Institutional Source

Beutler Lab

Gene Symbol

Thsd1

Ensembl Gene

ENSMUSG00000031480

Gene Name

thrombospondin, type I, domain 1

Synonyms

4833423O18Rik, Tmtsp

MMRRC Submission

045759-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22717329-22751350 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 22749003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 625 (R625*)

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 null
Transcript: ENSMUST00000069828
AA Change: R625*

SMART Domains

Protein: ENSMUSP00000067701
Gene: ENSMUSG00000031480
AA Change: R625*

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 null
Transcript: ENSMUST00000160585
AA Change: R572*

SMART Domains

Protein: ENSMUSP00000125118
Gene: ENSMUSG00000031480
AA Change: R572*

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 null
Transcript: ENSMUST00000162447
AA Change: R564*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630023A22Rik	C	A	14: 33,774,570 (GRCm39)	L140F	unknown	Het
Actn1	T	C	12: 80,221,311 (GRCm39)	T581A	probably benign	Het
Ak9	T	C	10: 41,224,072 (GRCm39)	L495S		Het
Aldh5a1	T	C	13: 25,095,731 (GRCm39)	D462G	probably damaging	Het
Amz2	A	G	11: 109,319,833 (GRCm39)	D73G	probably damaging	Het
Ank2	A	G	3: 126,825,860 (GRCm39)	Y361H	probably benign	Het
Atp8b1	A	G	18: 64,704,093 (GRCm39)	Y342H	probably benign	Het
Atp8b5	C	T	4: 43,366,735 (GRCm39)	T833I	probably benign	Het
Camkk2	A	G	5: 122,884,482 (GRCm39)	I313T	probably damaging	Het
Cdk18	T	C	1: 132,050,116 (GRCm39)	T20A	probably damaging	Het
Cenpf	A	T	1: 189,394,269 (GRCm39)	C479S	probably benign	Het
Cfap221	C	A	1: 119,889,659 (GRCm39)	E192*	probably null	Het
Cfap44	C	T	16: 44,254,149 (GRCm39)	H958Y	probably damaging	Het
Cic	A	T	7: 24,972,597 (GRCm39)	Q776L	possibly damaging	Het
Cldn17	C	A	16: 88,303,244 (GRCm39)	G162*	probably null	Het
Col19a1	T	A	1: 24,351,159 (GRCm39)	Y748F	probably benign	Het
Col27a1	C	T	4: 63,143,955 (GRCm39)	P548S	possibly damaging	Het
Cracdl	T	G	1: 37,664,452 (GRCm39)	E482A	probably benign	Het
Ctsr	T	A	13: 61,310,381 (GRCm39)	M92L	probably benign	Het
Cyp2d12	T	C	15: 82,443,171 (GRCm39)	V360A	probably benign	Het
Defa34	G	T	8: 22,156,645 (GRCm39)	C91F	probably damaging	Het
Dennd2c	G	A	3: 103,072,359 (GRCm39)	V815I	possibly damaging	Het
Dlgap4	C	T	2: 156,591,015 (GRCm39)	Q734*	probably null	Het
Dph1	A	T	11: 75,081,267 (GRCm39)	S7T	probably benign	Het
Dpp8	T	C	9: 64,949,618 (GRCm39)	V121A	probably benign	Het
Dst	G	A	1: 34,229,468 (GRCm39)	G2354S	probably benign	Het
Duox2	A	T	2: 122,111,245 (GRCm39)	L1453Q	probably damaging	Het
Ecpas	C	G	4: 58,832,660 (GRCm39)	C900S	unknown	Het
Exosc10	T	A	4: 148,642,955 (GRCm39)	S11T	probably benign	Het
Fetub	A	G	16: 22,758,059 (GRCm39)	T281A	probably benign	Het
Flii	A	T	11: 60,610,918 (GRCm39)	W504R	probably damaging	Het
Gm5093	T	C	17: 46,750,866 (GRCm39)	R54G	possibly damaging	Het
Gmcl1	T	C	6: 86,684,397 (GRCm39)	D375G	probably benign	Het
Hikeshi	A	T	7: 89,572,889 (GRCm39)	N101K	probably benign	Het
Hmcn2	T	C	2: 31,313,165 (GRCm39)	V3458A	probably damaging	Het
Hspa2	A	G	12: 76,452,083 (GRCm39)	N259S	possibly damaging	Het
Irf6	T	C	1: 192,844,075 (GRCm39)	I110T	probably damaging	Het
Kcnj8	T	A	6: 142,511,479 (GRCm39)	H376L	probably damaging	Het
Kdm6b	G	A	11: 69,296,807 (GRCm39)	P487S	probably benign	Het
Lcp1	C	A	14: 75,443,651 (GRCm39)	Y222*	probably null	Het
Manea	T	C	4: 26,327,763 (GRCm39)	D426G	probably damaging	Het
Map3k20	G	T	2: 72,195,025 (GRCm39)	E101*	probably null	Het
Map3k20	C	G	2: 72,268,658 (GRCm39)	S555C	probably benign	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Myo6	C	T	9: 80,124,938 (GRCm39)	P6S	unknown	Het
Myoc	A	T	1: 162,467,014 (GRCm39)	Q61L	probably damaging	Het
N4bp2	T	A	5: 65,965,500 (GRCm39)	M1183K	probably benign	Het
Or52e7	T	A	7: 104,685,114 (GRCm39)	H236Q	probably benign	Het
Or5b114-ps1	T	C	19: 13,352,404 (GRCm39)	F26S	probably damaging	Het
Or5b21	T	C	19: 12,840,077 (GRCm39)	S313P	possibly damaging	Het
Or8b40	T	A	9: 38,027,188 (GRCm39)	L37*	probably null	Het
Osbpl11	C	G	16: 33,054,817 (GRCm39)	N633K	probably benign	Het
Pate7	T	C	9: 35,688,472 (GRCm39)	M38V	probably benign	Het
Pcdhgb5	A	G	18: 37,865,684 (GRCm39)	E493G	probably damaging	Het
Phf20	T	A	2: 156,136,058 (GRCm39)	W626R	probably damaging	Het
Pkp2	C	A	16: 16,058,523 (GRCm39)	Q402K	probably benign	Het
Plch2	C	T	4: 155,087,244 (GRCm39)	D336N	possibly damaging	Het
Plk1	T	C	7: 121,768,481 (GRCm39)	F535L	probably damaging	Het
Ppp1r9a	A	T	6: 4,906,430 (GRCm39)	E328D	probably benign	Het
Prss44	G	A	9: 110,646,379 (GRCm39)	V369M	probably benign	Het
Rilp	A	G	11: 75,401,798 (GRCm39)	S193G	probably benign	Het
Rusc2	C	T	4: 43,414,900 (GRCm39)	Q69*	probably null	Het
Ryr2	T	C	13: 11,776,201 (GRCm39)	D1112G	possibly damaging	Het
Smc6	A	G	12: 11,333,141 (GRCm39)	R238G	possibly damaging	Het
Spen	A	G	4: 141,200,156 (GRCm39)	S2824P	probably damaging	Het
Stk4	T	C	2: 163,925,663 (GRCm39)	M77T	probably damaging	Het
Syne2	A	T	12: 75,995,838 (GRCm39)	H2126L	probably damaging	Het
Tle3	A	T	9: 61,320,138 (GRCm39)	N522I	probably damaging	Het
Tmcc1	C	A	6: 116,020,763 (GRCm39)	E230*	probably null	Het
Vmn2r90	T	C	17: 17,953,596 (GRCm39)	S587P	probably benign	Het
Wt1	A	T	2: 104,957,161 (GRCm39)	Q7L	probably benign	Het
Zfhx2	T	C	14: 55,300,306 (GRCm39)	I2482V	probably benign	Het
Zfpm2	A	T	15: 40,959,487 (GRCm39)	I189F	probably benign	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
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'- TCCCTTAGACCTGGAATGCC -3'
(R):5'- AGTGCTCTGGTCTCTCTGGAAG -3'

Sequencing Primer
(F):5'- TTAGACCTGGAATGCCCCGAAG -3'
(R):5'- TCCGCATCCTGGAACTGTAG -3'

Posted On

2019-11-12