Mutagenetix > Incidental Mutation

Incidental Mutation 'R7671:Thsd4'

592164

Institutional Source

Beutler Lab

Gene Symbol

Thsd4

Ensembl Gene

ENSMUSG00000032289

Gene Name

thrombospondin, type I, domain containing 4

Synonyms

ADAMTSL6, B230114P05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R7671 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59966931-60522046 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60428174 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 152 (S152P)

Ref Sequence

ENSEMBL: ENSMUSP00000096257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098660] [ENSMUST00000140824] [ENSMUST00000171654]

AlphaFold

Q3UTY6

Predicted Effect

probably benign
Transcript: ENSMUST00000098660
AA Change: S152P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096257
Gene: ENSMUSG00000032289
AA Change: S152P

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

probably benign
Transcript: ENSMUST00000140824

SMART Domains

Protein: ENSMUSP00000123323
Gene: ENSMUSG00000032289

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
TSP1	57	100	7.9e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171654
AA Change: S152P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131418
Gene: ENSMUSG00000032289
AA Change: S152P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,259,925	I394N	probably damaging	Het
4930435E12Rik	C	T	16: 38,828,091	D219N	possibly damaging	Het
4932438A13Rik	T	C	3: 36,943,231	F1146L	probably damaging	Het
4933406M09Rik	T	C	1: 134,390,062	C191R	probably benign	Het
Akap13	C	A	7: 75,569,900	T17K	probably damaging	Het
Ankrd29	T	A	18: 12,260,986	K257I	probably damaging	Het
Bicc1	A	G	10: 70,957,167	L219P	probably benign	Het
Boc	C	T	16: 44,491,849	V617M		Het
Ccl8	A	G	11: 82,115,207		probably benign	Het
Col18a1	A	G	10: 77,085,383	L261P	unknown	Het
Col5a3	T	A	9: 20,775,086		probably null	Het
Cryba4	A	C	5: 112,248,173		probably null	Het
Csf2rb	A	G	15: 78,338,930	Y114C	probably damaging	Het
Ctif	T	C	18: 75,472,016	D484G	probably damaging	Het
Ctnnal1	A	G	4: 56,837,848	F261L	probably damaging	Het
Defb22	A	T	2: 152,486,030	N78K	unknown	Het
Efr3a	G	A	15: 65,837,434		probably null	Het
Elp4	G	T	2: 105,904,481	A3E	probably damaging	Het
Emilin2	A	G	17: 71,273,910	V607A	probably benign	Het
Epsti1	A	G	14: 77,904,490	Y2C	probably damaging	Het
Fam81b	A	C	13: 76,271,293	L46R	probably damaging	Het
Fam81b	G	T	13: 76,271,294	L46I	possibly damaging	Het
Fbxo15	T	A	18: 84,964,153	H288Q	probably damaging	Het
Gabrg1	T	A	5: 70,815,980	N77I	probably damaging	Het
Ganab	A	G	19: 8,912,852	Y715C	possibly damaging	Het
Hist3h2ba	T	C	11: 58,949,276	S113P	possibly damaging	Het
Iqgap2	T	C	13: 95,628,119	D1539G	probably damaging	Het
Kcp	T	C	6: 29,496,517	N633S	probably benign	Het
Krt6a	C	A	15: 101,690,543	S529I	unknown	Het
Leo1	A	G	9: 75,445,562	H129R	probably benign	Het
Lmf1	G	A	17: 25,579,349	V55M	possibly damaging	Het
Mcm9	A	G	10: 53,537,569	S472P	probably benign	Het
Med27	T	A	2: 29,377,938	V33D		Het
Mup15	C	T	4: 61,438,289	E80K	probably benign	Het
Myo18a	G	A	11: 77,859,420	R199H		Het
Nebl	T	A	2: 17,390,916	R558*	probably null	Het
Olfr1121	A	G	2: 87,372,269	T246A	probably damaging	Het
Olfr1252	A	T	2: 89,721,259	I284K	probably damaging	Het
Olfr1329	A	T	4: 118,916,986	H160Q	probably benign	Het
Olfr506	T	C	7: 108,612,991	I228T	probably damaging	Het
Olfr740	G	T	14: 50,453,885	V278L	probably benign	Het
Olfr815	T	C	10: 129,902,353	D119G	probably damaging	Het
Olfr890	A	T	9: 38,143,440	M97L	probably benign	Het
Pde11a	A	T	2: 76,215,353	F376I	possibly damaging	Het
Prima1	A	T	12: 103,235,661	C52S	probably damaging	Het
Pxn	G	A	5: 115,548,547	R366H	not run	Het
Sgce	T	C	6: 4,691,564	Y337C	probably damaging	Het
Slc25a10	T	A	11: 120,495,460	M130K	probably benign	Het
Slc29a2	A	T	19: 5,024,262	N5I	probably benign	Het
Slc35a1	A	T	4: 34,673,875	H150Q		Het
Slc5a4a	T	A	10: 76,147,550	V7D	unknown	Het
Stk17b	T	A	1: 53,766,000	D134V	probably damaging	Het
Thbs3	T	A	3: 89,216,707	S36T	probably benign	Het
Tmem67	G	T	4: 12,063,698	H422N	probably benign	Het
Tram1	C	A	1: 13,589,644	V27F	probably damaging	Het
Trim14	A	G	4: 46,507,238	V326A	possibly 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
R0482:Thsd4	UTSW	9	60002978	missense	probably damaging	1.00
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
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'- TAATGGCGTCTCAGAATTCTCTTCAC -3'
(R):5'- TGGTGTGATGGAGCAGACAC -3'

Sequencing Primer
(F):5'- CCTTGGTTCTGTAAAGGCAAC -3'
(R):5'- TCCTACCGTGCTCGAGGAG -3'

Posted On

2019-11-12