Mutagenetix > Incidental Mutation

Incidental Mutation 'R8181:Thsd1'

634621

Institutional Source

Beutler Lab

Gene Symbol

Thsd1

Ensembl Gene

ENSMUSG00000031480

Gene Name

thrombospondin, type I, domain 1

Synonyms

4833423O18Rik, Tmtsp

MMRRC Submission

067605-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8181 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22717329-22751350 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22733022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 23 (E23G)

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 damaging
Transcript: ENSMUST00000069828
AA Change: E23G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000067701
Gene: ENSMUSG00000031480
AA Change: E23G

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

possibly damaging
Transcript: ENSMUST00000160585
AA Change: E23G

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125118
Gene: ENSMUSG00000031480
AA Change: E23G

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (73/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,774,156 (GRCm39)	S1115N	probably damaging	Het
Abca1	A	G	4: 53,059,303 (GRCm39)	V1551A	probably benign	Het
Adam30	T	C	3: 98,070,291 (GRCm39)	I708T	probably benign	Het
Aknad1	T	A	3: 108,659,328 (GRCm39)	L114H	possibly damaging	Het
Akr1c18	G	A	13: 4,185,262 (GRCm39)	S290L	probably benign	Het
Aldh18a1	G	T	19: 40,545,881 (GRCm39)	D635E	probably benign	Het
Bax	G	T	7: 45,115,698 (GRCm39)	P23Q	probably null	Het
Bhlha15	A	T	5: 144,128,244 (GRCm39)	N119Y	probably damaging	Het
Boll	T	A	1: 55,402,478 (GRCm39)	M1L	probably benign	Het
C2cd2	A	T	16: 97,693,502 (GRCm39)	I123N	probably benign	Het
Cacnb4	A	C	2: 52,364,997 (GRCm39)	S89A	probably benign	Het
Calca	A	G	7: 114,234,387 (GRCm39)	C21R	probably benign	Het
Calcr	T	C	6: 3,693,899 (GRCm39)	I325M	probably benign	Het
Card14	T	A	11: 119,212,718 (GRCm39)	F94Y	probably damaging	Het
Chil3	A	C	3: 106,057,203 (GRCm39)	I247S	probably damaging	Het
Clca3b	T	C	3: 144,544,898 (GRCm39)	N363S	probably benign	Het
Cnksr3	A	G	10: 7,070,475 (GRCm39)	V494A	possibly damaging	Het
Cog4	A	G	8: 111,578,717 (GRCm39)		probably null	Het
Crybg1	T	A	10: 43,862,322 (GRCm39)	Y1484F	probably damaging	Het
Dglucy	A	G	12: 100,816,370 (GRCm39)		probably null	Het
Dmp1	T	A	5: 104,359,380 (GRCm39)		probably null	Het
Dscaml1	T	A	9: 45,658,140 (GRCm39)	I1637N	possibly damaging	Het
Ercc6	T	A	14: 32,279,905 (GRCm39)	I640N	probably damaging	Het
Esp16	G	T	17: 39,850,707 (GRCm39)	E29*	probably null	Het
Fam149a	T	C	8: 45,834,755 (GRCm39)	I15V	possibly damaging	Het
Flt4	T	A	11: 49,525,723 (GRCm39)	I724N	probably damaging	Het
Glb1	C	T	9: 114,259,429 (GRCm39)	R202C	probably damaging	Het
Gmpr2	C	A	14: 55,910,441 (GRCm39)	S41*	probably null	Het
Golgb1	T	A	16: 36,737,192 (GRCm39)	D2187E	probably damaging	Het
Gpsm2	A	G	3: 108,597,080 (GRCm39)		probably null	Het
Helz	A	G	11: 107,563,399 (GRCm39)	D1613G	unknown	Het
Hemgn	A	C	4: 46,396,504 (GRCm39)	M244R	possibly damaging	Het
Hsd3b1	A	T	3: 98,763,453 (GRCm39)	V56E	probably damaging	Het
Jup	A	T	11: 100,267,751 (GRCm39)	I524N	probably damaging	Het
Kdm1b	G	T	13: 47,205,377 (GRCm39)		probably null	Het
Kif11	A	T	19: 37,379,095 (GRCm39)		probably null	Het
Lars1	A	T	18: 42,361,835 (GRCm39)	W591R	probably damaging	Het
Lrtm1	T	A	14: 28,743,894 (GRCm39)	S121T	probably damaging	Het
Med12l	A	C	3: 59,169,389 (GRCm39)	D1593A	probably damaging	Het
Med17	A	T	9: 15,188,928 (GRCm39)	D112E	possibly damaging	Het
Mettl2	T	A	11: 105,019,866 (GRCm39)	F168I	probably benign	Het
Mmp9	A	T	2: 164,792,365 (GRCm39)	D323V	probably damaging	Het
Mpzl2	C	T	9: 44,961,006 (GRCm39)	T214I	probably benign	Het
Ms4a15	T	C	19: 10,958,670 (GRCm39)	H134R	probably benign	Het
Ms4a6d	T	A	19: 11,580,653 (GRCm39)	I2F	probably damaging	Het
Muc3a	G	A	5: 137,244,535 (GRCm39)	P206S	unknown	Het
Nectin2	C	A	7: 19,458,733 (GRCm39)	L359F	probably damaging	Het
Or2y6	C	A	11: 52,104,096 (GRCm39)	C240F	probably damaging	Het
Or4f53	T	A	2: 111,087,918 (GRCm39)	F153I	probably benign	Het
Pgm2	G	T	5: 64,269,467 (GRCm39)	C518F	possibly damaging	Het
Plppr4	A	G	3: 117,116,114 (GRCm39)	V581A	probably damaging	Het
Prkra	G	C	2: 76,469,634 (GRCm39)	L142V	probably damaging	Het
Prpf38a	G	A	4: 108,434,195 (GRCm39)	T74I	probably benign	Het
Ptprs	T	A	17: 56,736,064 (GRCm39)	N635I	probably damaging	Het
Rxfp2	A	G	5: 149,987,201 (GRCm39)	N361D	probably benign	Het
Ryr3	T	G	2: 112,608,588 (GRCm39)	I2351L	probably damaging	Het
Sfmbt2	A	T	2: 10,580,190 (GRCm39)	T618S	probably benign	Het
Six6	A	G	12: 72,986,906 (GRCm39)	D26G	probably damaging	Het
Slc20a1	T	C	2: 129,051,047 (GRCm39)	L568P	probably damaging	Het
Slx4ip	T	A	2: 136,842,104 (GRCm39)	C10S	probably damaging	Het
Sox13	G	T	1: 133,311,498 (GRCm39)	T578K	probably benign	Het
Spire2	A	T	8: 124,088,042 (GRCm39)	S509C	probably damaging	Het
Sptbn4	T	C	7: 27,074,808 (GRCm39)	D1521G	possibly damaging	Het
Sult2a7	T	C	7: 14,204,098 (GRCm39)	T207A	probably benign	Het
Sun2	A	G	15: 79,609,721 (GRCm39)	I708T	probably damaging	Het
Supt5	T	C	7: 28,030,899 (GRCm39)	E44G	unknown	Het
Ticrr	T	C	7: 79,310,728 (GRCm39)	V214A	possibly damaging	Het
Vmn2r74	A	T	7: 85,605,324 (GRCm39)	F441L	probably damaging	Het
Zfp30	A	G	7: 29,493,080 (GRCm39)	T526A	probably benign	Het
Zfp518a	G	T	19: 40,902,415 (GRCm39)	Q781H	probably damaging	Het
Zmynd11	A	G	13: 9,739,687 (GRCm39)	V434A	probably benign	Het
Zranb1	A	G	7: 132,585,508 (GRCm39)	D652G	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
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
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'- CCATTTTAAGCGTGAGGGTG -3'
(R):5'- AAACTGGAGTGTTCCTTGGG -3'

Sequencing Primer
(F):5'- CATTTTAAGCGTGAGGGTGAGGAG -3'
(R):5'- CCTTGGGCCTGGTTGGTC -3'

Posted On

2020-07-13