Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01936:Thsd1'

180692

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Thsd1

Ensembl Gene

ENSMUSG00000031480

Gene Name

thrombospondin, type I, domain 1

Synonyms

Tmtsp, 4833423O18Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01936

Quality Score

Status

Chromosome

Chromosomal Location

22227313-22261334 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 22252231 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 305 (C305Y)

Ref Sequence

ENSEMBL: ENSMUSP00000148214 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000069828
AA Change: C366Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067701
Gene: ENSMUSG00000031480
AA Change: C366Y

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 damaging
Transcript: ENSMUST00000162447
AA Change: C305Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	A	5: 89,861,423	H127L	probably benign	Het
Adamtsl3	T	C	7: 82,595,371	V419A	possibly damaging	Het
Arhgap31	T	A	16: 38,602,925	L926F	probably damaging	Het
Asgr2	A	T	11: 70,098,051		probably null	Het
C3ar1	T	A	6: 122,851,235	T8S	probably benign	Het
Caskin2	T	C	11: 115,804,717	I273V	probably damaging	Het
Ccnl2	T	A	4: 155,820,399	C242S	probably damaging	Het
Cdkn2a	A	T	4: 89,294,332		probably null	Het
Cfap45	T	G	1: 172,534,049	M231R	probably damaging	Het
Clcn7	A	C	17: 25,155,376	N464H	probably benign	Het
Col20a1	T	A	2: 181,009,368		probably benign	Het
Col7a1	T	A	9: 108,967,999		probably benign	Het
Cops7a	T	C	6: 124,962,416	D90G	probably benign	Het
Ctcf	T	C	8: 105,670,232	V363A	probably benign	Het
Cyp2j12	A	G	4: 96,133,069	V100A	probably benign	Het
Dcaf1	T	A	9: 106,859,601	F1085Y	possibly damaging	Het
Drc7	T	A	8: 95,074,132	F594Y	possibly damaging	Het
Ehbp1l1	C	A	19: 5,718,249	E1009*	probably null	Het
Epg5	C	A	18: 77,985,101	R1286S	probably damaging	Het
Etv1	T	C	12: 38,835,061		probably benign	Het
Exosc7	T	C	9: 123,135,891		probably benign	Het
Fam227a	T	C	15: 79,612,546	D610G	possibly damaging	Het
Fat4	T	A	3: 38,979,774	M2525K	probably benign	Het
Gimap5	G	T	6: 48,753,065	A190S	probably damaging	Het
Glcci1	T	A	6: 8,579,596	S79T	probably damaging	Het
Gm10093	T	C	17: 78,492,129	V183A	probably damaging	Het
Gpnmb	C	T	6: 49,047,450	T233I	probably null	Het
Hyls1	T	C	9: 35,562,067	I18V	probably benign	Het
Ighv1-63	C	T	12: 115,495,654	E108K	probably damaging	Het
Ighv5-12	C	A	12: 113,702,307	R57L	probably damaging	Het
Igkv5-37	T	C	6: 69,963,339	Y107C	probably damaging	Het
Il20ra	T	A	10: 19,755,843	V264D	probably damaging	Het
Jph1	A	T	1: 17,097,384	V74E	probably damaging	Het
Kcnab1	C	T	3: 65,358,274	L280F	probably damaging	Het
Kcnk1	T	C	8: 126,025,087	F144S	probably damaging	Het
Kcnq1	G	A	7: 143,184,504	E294K	possibly damaging	Het
Kdm4b	T	A	17: 56,397,355	V813E	probably damaging	Het
Kntc1	T	A	5: 123,811,376	F1937I	probably damaging	Het
Ldb2	G	A	5: 44,480,244	R241W	probably damaging	Het
Lgr5	T	C	10: 115,452,414	N703S	probably damaging	Het
Map4k1	A	T	7: 28,988,607	M227L	possibly damaging	Het
Mbnl1	T	A	3: 60,613,519	M268K	possibly damaging	Het
Mcm2	C	A	6: 88,891,726	G350C	probably damaging	Het
Myh2	A	T	11: 67,191,773	T1390S	possibly damaging	Het
Npat	T	A	9: 53,558,226		probably benign	Het
Nr2e1	T	A	10: 42,567,973	D251V	possibly damaging	Het
Olfr1425	C	T	19: 12,074,057	V192I	probably benign	Het
Olfr1461	C	A	19: 13,165,403	P130T	probably damaging	Het
Olfr54	A	G	11: 51,027,335	N111S	probably benign	Het
Plekha5	T	A	6: 140,524,895	H87Q	probably damaging	Het
Polr3a	A	G	14: 24,479,188	V368A	probably damaging	Het
Psmb8	T	A	17: 34,200,194	L154Q	probably damaging	Het
Rab40c	A	C	17: 25,884,670	C140G	probably damaging	Het
Ranbp17	G	A	11: 33,487,689	T183I	probably benign	Het
Ruvbl2	T	C	7: 45,428,698	E117G	probably damaging	Het
Serpinb3b	T	A	1: 107,154,638	M299L	probably benign	Het
Smpdl3a	A	G	10: 57,802,434	H111R	probably damaging	Het
Sspo	C	A	6: 48,475,887	P2843H	probably damaging	Het
Stk39	T	C	2: 68,314,564	T389A	probably benign	Het
Synrg	T	A	11: 84,019,705	F1000Y	probably benign	Het
Thbs2	C	T	17: 14,687,814	S229N	probably benign	Het
Ticrr	C	A	7: 79,694,549	D1387E	probably benign	Het
Tmem145	G	T	7: 25,311,391	A383S	probably damaging	Het
Tmprss4	A	G	9: 45,179,420	V187A	probably damaging	Het
Unc13c	T	A	9: 73,693,242	M1407L	probably benign	Het
Vps39	C	T	2: 120,323,128	G655D	probably benign	Het
Wwtr1	T	C	3: 57,574,820		probably benign	Het
Xrn1	T	C	9: 96,048,344	S1535P	probably damaging	Het

Other mutations in Thsd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02288:Thsd1	APN	8	22259549	missense	probably damaging	1.00
IGL02517:Thsd1	APN	8	22243438	missense	probably damaging	1.00
IGL02591:Thsd1	APN	8	22258727	missense	probably damaging	1.00
IGL03378:Thsd1	APN	8	22243778	missense	probably benign	0.13
R0137:Thsd1	UTSW	8	22243039	missense	probably damaging	1.00
R0507:Thsd1	UTSW	8	22258679	missense	probably damaging	1.00
R0854:Thsd1	UTSW	8	22258571	missense	probably damaging	0.99
R1109:Thsd1	UTSW	8	22243692	missense	possibly damaging	0.93
R1402:Thsd1	UTSW	8	22259368	missense	possibly damaging	0.68
R1402:Thsd1	UTSW	8	22259368	missense	possibly damaging	0.68
R1899:Thsd1	UTSW	8	22252318	splice site	probably benign
R1900:Thsd1	UTSW	8	22252318	splice site	probably benign
R2008:Thsd1	UTSW	8	22259231	missense	probably benign	0.23
R2048:Thsd1	UTSW	8	22259317	missense	probably benign	0.01
R2090:Thsd1	UTSW	8	22259657	missense	possibly damaging	0.95
R2165:Thsd1	UTSW	8	22238522	intron	probably benign
R2209:Thsd1	UTSW	8	22258871	missense	probably damaging	1.00
R3831:Thsd1	UTSW	8	22243116	missense	possibly damaging	0.92
R3833:Thsd1	UTSW	8	22243116	missense	possibly damaging	0.92
R3847:Thsd1	UTSW	8	22259411	missense	probably damaging	0.97
R4049:Thsd1	UTSW	8	22243164	missense	possibly damaging	0.75
R4454:Thsd1	UTSW	8	22243578	missense	probably damaging	1.00
R4659:Thsd1	UTSW	8	22259298	nonsense	probably null
R4997:Thsd1	UTSW	8	22243324	missense	probably damaging	0.98
R6440:Thsd1	UTSW	8	22258553	missense	possibly damaging	0.59
R6457:Thsd1	UTSW	8	22243347	missense	probably damaging	0.97
R6488:Thsd1	UTSW	8	22243717	missense	probably benign	0.36
R6519:Thsd1	UTSW	8	22259065	missense	probably damaging	1.00
R7267:Thsd1	UTSW	8	22243581	missense	probably benign	0.10
R7448:Thsd1	UTSW	8	22243333	missense	possibly damaging	0.89
R7698:Thsd1	UTSW	8	22258987	nonsense	probably null
R7733:Thsd1	UTSW	8	22258721	missense	probably damaging	1.00
R7792:Thsd1	UTSW	8	22243098	missense	probably damaging	0.99
X0023:Thsd1	UTSW	8	22259567	missense	probably damaging	1.00
Z1088:Thsd1	UTSW	8	22252219	missense	probably damaging	1.00

Posted On

2014-05-07