Mutagenetix > Incidental Mutation

Incidental Mutation 'R0482:Thsd4'

42048

Institutional Source

Beutler Lab

Gene Symbol

Thsd4

Ensembl Gene

ENSMUSG00000032289

Gene Name

thrombospondin, type I, domain containing 4

Synonyms

ADAMTSL6, B230114P05Rik

MMRRC Submission

038682-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R0482 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59966931-60522046 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60002978 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 109 (I109N)

Ref Sequence

ENSEMBL: ENSMUSP00000034829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034829] [ENSMUST00000098660] [ENSMUST00000171654]

AlphaFold

Q3UTY6

Predicted Effect

probably damaging
Transcript: ENSMUST00000034829
AA Change: I109N

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

SMART Domains

Protein: ENSMUSP00000034829
Gene: ENSMUSG00000032289
AA Change: I109N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:ADAM_spacer1	52	168	7.8e-40	PFAM
low complexity region	189	205	N/A	INTRINSIC
TSP1	261	317	1.51e-1	SMART
TSP1	319	377	8.11e-5	SMART
TSP1	379	434	7.92e-8	SMART
TSP1	436	491	1.6e-3	SMART
TSP1	495	553	4.82e-2	SMART
TSP1	556	608	1.03e-6	SMART
Pfam:PLAC	614	646	2.5e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000098660
AA Change: I469N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096257
Gene: ENSMUSG00000032289
AA Change: I469N

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
TSP1	57	100	7.9e-2	SMART
low complexity region	160	175	N/A	INTRINSIC
low complexity region	187	202	N/A	INTRINSIC
Pfam:ADAM_spacer1	412	528	1.5e-39	PFAM
low complexity region	549	565	N/A	INTRINSIC
TSP1	621	677	1.51e-1	SMART
TSP1	679	737	8.11e-5	SMART
TSP1	739	794	7.92e-8	SMART
TSP1	796	851	1.6e-3	SMART
TSP1	855	913	4.82e-2	SMART
TSP1	916	968	1.03e-6	SMART
Pfam:PLAC	974	1006	4.2e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126347

Predicted Effect

probably damaging
Transcript: ENSMUST00000171654
AA Change: I469N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131418
Gene: ENSMUSG00000032289
AA Change: I469N

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
TSP1	57	100	7.9e-2	SMART
low complexity region	160	175	N/A	INTRINSIC
low complexity region	187	202	N/A	INTRINSIC
Pfam:ADAM_spacer1	412	528	5.4e-40	PFAM
low complexity region	549	565	N/A	INTRINSIC
TSP1	621	677	1.51e-1	SMART
TSP1	679	737	8.11e-5	SMART
TSP1	739	794	7.92e-8	SMART
TSP1	796	851	1.6e-3	SMART
TSP1	855	913	4.82e-2	SMART
TSP1	916	968	1.03e-6	SMART
Pfam:PLAC	975	1005	1.3e-12	PFAM

Meta Mutation Damage Score

0.8317

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.4%

Validation Efficiency

95% (94/99)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 8,988,423		probably null	Het
Abca13	G	A	11: 9,328,207	G3129D	possibly damaging	Het
Acnat2	T	C	4: 49,383,534	I6M	probably benign	Het
Adcy4	T	A	14: 55,774,572		probably null	Het
Agrn	A	G	4: 156,173,555	S1117P	probably damaging	Het
Anks1b	A	G	10: 90,359,195	N545S	probably benign	Het
Antxr1	C	T	6: 87,269,238		probably null	Het
Arhgef17	T	C	7: 100,880,621	K476E	probably damaging	Het
Bptf	T	C	11: 107,081,262	S927G	probably benign	Het
Cacna1s	C	T	1: 136,113,394	T1286I	probably benign	Het
Ccdc174	T	A	6: 91,895,266	M292K	probably benign	Het
Cdk5rap2	G	A	4: 70,410,269		probably benign	Het
Celsr3	T	A	9: 108,829,073	Y918*	probably null	Het
Cep250	T	C	2: 155,964,974		probably benign	Het
Ces2h	A	G	8: 105,020,271	D513G	possibly damaging	Het
Clec2l	A	G	6: 38,663,392	T53A	probably benign	Het
Cntnap2	C	T	6: 45,715,816	S77L	probably benign	Het
Cped1	A	T	6: 22,016,958	H102L	probably benign	Het
Crim1	T	A	17: 78,372,579	D916E	probably benign	Het
Csmd1	T	A	8: 16,233,101	I614F	probably damaging	Het
Csnk1g1	G	A	9: 66,010,469	E37K	probably damaging	Het
Ctnnbl1	T	A	2: 157,871,190		probably null	Het
Cuzd1	A	T	7: 131,309,872		probably benign	Het
Cyp4f16	T	A	17: 32,550,551	V433D	probably damaging	Het
Ddi1	A	G	9: 6,266,144	L75P	probably damaging	Het
Ddias	G	A	7: 92,859,528	A393V	probably benign	Het
Dgka	A	T	10: 128,734,121	Y123*	probably null	Het
Dlgap1	T	C	17: 70,516,190	C57R	probably benign	Het
Dysf	T	A	6: 84,152,405	V1458D	probably benign	Het
Eif2ak4	T	A	2: 118,462,347	Y1230N	probably damaging	Het
Fam160a2	G	A	7: 105,384,212	P599L	possibly damaging	Het
Fam46a	T	C	9: 85,325,055	Y230C	probably damaging	Het
Fbxl7	A	T	15: 26,543,546	S338R	probably benign	Het
Fgf23	A	T	6: 127,073,159	T44S	probably damaging	Het
Folh1	A	T	7: 86,746,101		probably benign	Het
Gpsm2	A	T	3: 108,702,394		probably benign	Het
Hdac2	T	A	10: 36,989,134		probably benign	Het
Hist1h2bl	A	G	13: 21,716,125		probably benign	Het
Il31ra	G	T	13: 112,527,481	T446N	possibly damaging	Het
Irf5	T	A	6: 29,535,370	L199H	probably benign	Het
Kif18a	T	A	2: 109,287,843	M1K	probably null	Het
Kif4-ps	A	C	12: 101,148,662	I1017L	probably benign	Het
Klhl2	C	T	8: 64,758,130	V295M	probably benign	Het
Krt75	A	T	15: 101,570,311	M296K	probably benign	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lgr4	T	C	2: 110,008,092	S439P	probably damaging	Het
Lhfpl2	C	A	13: 94,174,610	N129K	probably damaging	Het
Lnx2	A	G	5: 147,018,961	V675A	probably damaging	Het
Med13	T	C	11: 86,285,151	T1673A	probably benign	Het
Mif	A	G	10: 75,860,140	V10A	possibly damaging	Het
Mki67	A	T	7: 135,699,429	I1292N	possibly damaging	Het
Mylip	C	A	13: 45,404,583	N89K	probably benign	Het
Myo19	G	T	11: 84,909,419	D877Y	probably benign	Het
Nckap5	A	G	1: 126,026,365	S753P	possibly damaging	Het
Nlrc3	T	C	16: 3,965,192	T118A	possibly damaging	Het
Nptx2	T	C	5: 144,553,459	Y233H	probably damaging	Het
Nsl1	T	A	1: 191,063,040	M1K	probably null	Het
Ntsr1	T	A	2: 180,501,056	S213R	possibly damaging	Het
Olfr1225	A	T	2: 89,170,631	F194I	probably benign	Het
Olfr48	A	G	2: 89,844,169	V268A	probably benign	Het
Olfr669	T	A	7: 104,938,814	F96Y	possibly damaging	Het
Pde4d	G	A	13: 109,936,710	V347I	probably benign	Het
Pik3r4	T	A	9: 105,669,045	S865T	probably benign	Het
Ppp2r2d	A	G	7: 138,870,431	R136G	probably benign	Het
Proser2	A	C	2: 6,113,910	S41A	probably damaging	Het
Proz	A	T	8: 13,073,460	K244*	probably null	Het
Prpf38b	A	T	3: 108,905,270	L209H	probably damaging	Het
R3hdm1	C	A	1: 128,184,517	A390E	probably benign	Het
Rb1cc1	A	C	1: 6,240,323	D315A	probably damaging	Het
Rnf141	G	A	7: 110,837,138	R28*	probably null	Het
Rps6kc1	A	T	1: 190,799,430	S792T	probably benign	Het
Rxrg	A	G	1: 167,631,037	D233G	possibly damaging	Het
Sh2d7	A	G	9: 54,541,037	N114S	probably benign	Het
Slc25a38	T	C	9: 120,120,833	V205A	probably benign	Het
Slc4a10	T	C	2: 62,297,017		probably benign	Het
Spred1	T	A	2: 117,152,978		probably null	Het
Stt3b	A	G	9: 115,248,567	S706P	probably benign	Het
Tcerg1	C	A	18: 42,564,240		probably benign	Het
Ticrr	C	A	7: 79,694,488	P1367Q	probably damaging	Het
Trpv1	A	G	11: 73,239,429	D146G	probably damaging	Het
Tubd1	T	G	11: 86,557,776	V305G	possibly damaging	Het
Tubgcp4	T	C	2: 121,175,374	L81P	probably benign	Het
Ubxn2b	T	A	4: 6,196,404		probably null	Het
Usp36	A	T	11: 118,265,194	S586T	probably benign	Het
Vcan	T	A	13: 89,678,145	D2220V	probably damaging	Het
Vmn1r173	T	A	7: 23,702,791	N150K	probably damaging	Het
Vmn1r70	G	A	7: 10,634,277	A231T	probably damaging	Het
Vmn2r97	A	G	17: 18,947,668	D728G	probably damaging	Het
Zbtb40	T	C	4: 136,983,228	E1200G	probably damaging	Het
Zfp365	A	T	10: 67,897,606	V252D	probably damaging	Het

Other mutations in Thsd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02206:Thsd4	APN	9	60394115	missense	probably benign	0.22
IGL02418:Thsd4	APN	9	60428315	missense	probably damaging	0.99
IGL02491:Thsd4	APN	9	60000018	missense	probably damaging	0.99
IGL02754:Thsd4	APN	9	59989097	splice site	probably benign
IGL02874:Thsd4	APN	9	60252730	missense	probably damaging	1.00
IGL02978:Thsd4	APN	9	60056846	splice site	probably null
IGL03139:Thsd4	APN	9	59997173	missense	probably benign	0.01
R0266:Thsd4	UTSW	9	59997134	missense	probably benign	0.07
R1188:Thsd4	UTSW	9	60394406	missense	probably benign	0.12
R1447:Thsd4	UTSW	9	59997213	missense	probably benign
R1572:Thsd4	UTSW	9	60394553	splice site	probably benign
R1812:Thsd4	UTSW	9	60056937	missense	probably damaging	1.00
R2349:Thsd4	UTSW	9	59972515	missense	probably benign	0.05
R3236:Thsd4	UTSW	9	60394387	missense	probably benign
R4088:Thsd4	UTSW	9	59997222	missense	probably benign	0.02
R4884:Thsd4	UTSW	9	59988037	missense	probably benign	0.43
R4886:Thsd4	UTSW	9	59989030	missense	probably benign	0.00
R5066:Thsd4	UTSW	9	59976332	missense	probably damaging	1.00
R5223:Thsd4	UTSW	9	60057042	missense	probably damaging	1.00
R5441:Thsd4	UTSW	9	59979783	missense	probably damaging	1.00
R5457:Thsd4	UTSW	9	59979777	missense	probably damaging	1.00
R5574:Thsd4	UTSW	9	59972400	missense	probably damaging	1.00
R5581:Thsd4	UTSW	9	59972458	missense	possibly damaging	0.90
R5903:Thsd4	UTSW	9	60394106	missense	possibly damaging	0.47
R6220:Thsd4	UTSW	9	59982747	missense	probably damaging	1.00
R6728:Thsd4	UTSW	9	59997197	missense	probably benign
R7102:Thsd4	UTSW	9	59976304	missense	probably damaging	1.00
R7316:Thsd4	UTSW	9	59987359	missense	probably benign	0.00
R7403:Thsd4	UTSW	9	60056887	missense	probably damaging	0.99
R7638:Thsd4	UTSW	9	60394472	missense	probably damaging	1.00
R7671:Thsd4	UTSW	9	60428174	missense	probably benign
R7856:Thsd4	UTSW	9	60002861	missense	probably damaging	1.00
R8671:Thsd4	UTSW	9	60394445	missense	probably damaging	0.98
R9104:Thsd4	UTSW	9	60056896	missense	possibly damaging	0.95
R9182:Thsd4	UTSW	9	59987366	missense	probably benign	0.00
R9252:Thsd4	UTSW	9	60056947	missense	probably benign	0.04
R9663:Thsd4	UTSW	9	59982743	missense	probably damaging	1.00
Z1177:Thsd4	UTSW	9	59988094	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTCAAAGACCAATGCCAAGCACTG -3'
(R):5'- ATGCTTCCAAACCATGAGTGCCCC -3'

Sequencing Primer
(F):5'- TTCTATCGAGCCTGAGCAAG -3'
(R):5'- ACACCTGAGCTTACCAGAGA -3'

Posted On

2013-05-23