Mutagenetix > Incidental Mutation

Incidental Mutation 'R6488:Thsd1'

522522

Institutional Source

Beutler Lab

Gene Symbol

Thsd1

Ensembl Gene

ENSMUSG00000031480

Gene Name

thrombospondin, type I, domain 1

Synonyms

4833423O18Rik, Tmtsp

MMRRC Submission

044620-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6488 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22717329-22751350 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22733733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 260 (V260A)

Ref Sequence

ENSEMBL: ENSMUSP00000125118 (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: V260A

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000067701
Gene: ENSMUSG00000031480
AA Change: V260A

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: V260A

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125118
Gene: ENSMUSG00000031480
AA Change: V260A

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: V199A

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0985

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

96% (65/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,275,298 (GRCm39)	Q334*	probably null	Het
Abhd15	T	C	11: 77,406,848 (GRCm39)	F275S	possibly damaging	Het
Adamts7	A	G	9: 90,053,535 (GRCm39)	T27A	probably benign	Het
Ankar	A	G	1: 72,720,967 (GRCm39)		probably null	Het
Ap2a2	T	C	7: 141,182,220 (GRCm39)	V183A	probably benign	Het
Arhgef37	G	A	18: 61,651,123 (GRCm39)	A134V	probably benign	Het
Col3a1	C	A	1: 45,370,694 (GRCm39)		probably benign	Het
Cplx3	A	G	9: 57,527,926 (GRCm39)	S10P	possibly damaging	Het
Cxcr5	A	G	9: 44,425,276 (GRCm39)	V127A	probably damaging	Het
Eif4b	T	A	15: 102,001,422 (GRCm39)		probably benign	Het
Ext2	A	G	2: 93,636,430 (GRCm39)	V228A	probably damaging	Het
Fam83h	T	C	15: 75,873,902 (GRCm39)	E1145G	possibly damaging	Het
Fcgbp	A	G	7: 27,792,963 (GRCm39)	D989G	probably damaging	Het
Fchsd1	T	C	18: 38,100,321 (GRCm39)		probably null	Het
Fcnb	T	C	2: 27,968,301 (GRCm39)	K219E	probably damaging	Het
Fndc7	T	C	3: 108,777,891 (GRCm39)	E355G	probably damaging	Het
Glis3	T	C	19: 28,276,253 (GRCm39)	H746R	probably benign	Het
Glod4	A	G	11: 76,128,611 (GRCm39)	V74A	probably damaging	Het
Gpc6	T	C	14: 118,202,125 (GRCm39)	I445T	possibly damaging	Het
Hdlbp	T	C	1: 93,355,946 (GRCm39)	D337G	probably damaging	Het
Hnf1a	T	C	5: 115,094,020 (GRCm39)	T190A	probably benign	Het
Iqgap1	G	C	7: 80,380,074 (GRCm39)	T1129R	probably benign	Het
Kcnc3	T	C	7: 44,244,606 (GRCm39)	F299L	possibly damaging	Het
Kif26b	T	C	1: 178,357,138 (GRCm39)	V4A	unknown	Het
Kifbp	C	A	10: 62,395,437 (GRCm39)		probably null	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Krtap4-1	G	T	11: 99,518,903 (GRCm39)	R36S	unknown	Het
Lrpprc	T	C	17: 85,058,781 (GRCm39)	N693S	probably damaging	Het
Lrrc49	A	T	9: 60,509,916 (GRCm39)	F157L	probably damaging	Het
Mettl22	T	C	16: 8,305,225 (GRCm39)	F293L	probably damaging	Het
Mga	T	A	2: 119,791,388 (GRCm39)	N2424K	probably damaging	Het
Mgat4f	T	A	1: 134,318,626 (GRCm39)	V466D	probably damaging	Het
Mpdz	G	T	4: 81,205,970 (GRCm39)	A1784E	probably benign	Het
Mpv17l	G	A	16: 13,764,452 (GRCm39)		probably null	Het
Mtus1	G	A	8: 41,494,545 (GRCm39)	S29L	possibly damaging	Het
Myo15a	A	T	11: 60,369,313 (GRCm39)	H691L	possibly damaging	Het
Nbea	T	C	3: 55,625,264 (GRCm39)	T2276A	probably damaging	Het
Npas4	A	G	19: 5,036,011 (GRCm39)	S718P	probably damaging	Het
Ntrk2	T	A	13: 59,009,170 (GRCm39)	N320K	possibly damaging	Het
Nup214	T	A	2: 31,881,384 (GRCm39)	I414N	possibly damaging	Het
Oas2	A	G	5: 120,876,428 (GRCm39)	F15S	probably damaging	Het
Or52z15	T	C	7: 103,332,285 (GRCm39)	I110T	probably damaging	Het
Or5b118	T	C	19: 13,448,981 (GRCm39)	Y216H	probably damaging	Het
Pabpc6	A	G	17: 9,888,528 (GRCm39)	Y8H	probably damaging	Het
Pbx1	T	A	1: 168,018,964 (GRCm39)	N294Y	probably damaging	Het
Pcyt1a	T	C	16: 32,285,899 (GRCm39)	M190T	probably damaging	Het
Pogk	T	C	1: 166,226,991 (GRCm39)	I387V	possibly damaging	Het
Ppp6r2	T	C	15: 89,152,741 (GRCm39)	L294P	probably benign	Het
Pramel51	T	C	12: 88,144,357 (GRCm39)	H152R	possibly damaging	Het
Ptprn2	T	A	12: 116,835,658 (GRCm39)	I331K	probably benign	Het
Ptpro	T	G	6: 137,370,673 (GRCm39)	Y591*	probably null	Het
Ptprz1	T	A	6: 23,001,516 (GRCm39)	L1202*	probably null	Het
Rab37	A	G	11: 115,048,789 (GRCm39)	T73A	probably benign	Het
Rad51ap2	T	G	12: 11,508,161 (GRCm39)	S694R	possibly damaging	Het
Rb1cc1	T	A	1: 6,340,951 (GRCm39)	D148E	probably damaging	Het
Rraga	G	A	4: 86,494,565 (GRCm39)	R137H	probably damaging	Het
Serpinf2	A	G	11: 75,328,329 (GRCm39)	V73A	probably benign	Het
Siglec1	T	C	2: 130,923,227 (GRCm39)	N506S	probably damaging	Het
Slc35e4	T	C	11: 3,862,602 (GRCm39)	T196A	possibly damaging	Het
St6galnac3	C	T	3: 153,117,394 (GRCm39)	A110T	probably damaging	Het
Tpbg	T	A	9: 85,726,538 (GRCm39)	V169D	possibly damaging	Het
Trav16n	A	G	14: 53,589,042 (GRCm39)	E106G	probably benign	Het
Vmn1r219	T	C	13: 23,347,135 (GRCm39)	I108T	probably benign	Het
Vmn2r50	T	C	7: 9,771,644 (GRCm39)	I686V	probably damaging	Het
Zdhhc20	C	T	14: 58,078,289 (GRCm39)	R329K	probably benign	Het
Zfp64	A	G	2: 168,777,129 (GRCm39)		probably null	Het
Zfp941	C	T	7: 140,392,663 (GRCm39)	R232H	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
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'- TCACTCAAGGTCAGTGGGTC -3'
(R):5'- CTGAATTAGCATGCATTCCTTTGC -3'

Sequencing Primer
(F):5'- CGAGTTTGGCTGTGCACC -3'
(R):5'- GCATTCCTTTGCAGAAAAATGGCC -3'

Posted On

2018-06-06