Mutagenetix > Incidental Mutation

Incidental Mutation 'R5223:Thsd4'

402437

Institutional Source

Beutler Lab

Gene Symbol

Thsd4

Ensembl Gene

ENSMUSG00000032289

Gene Name

thrombospondin, type I, domain containing 4

Synonyms

ADAMTSL6, B230114P05Rik

MMRRC Submission

042796-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R5223 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59966931-60522046 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60057042 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 389 (D389G)

Ref Sequence

ENSEMBL: ENSMUSP00000131418 (fasta)

Gene Model

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

AlphaFold

Q3UTY6

Predicted Effect

probably damaging
Transcript: ENSMUST00000034829
AA Change: D29G

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

SMART Domains

Protein: ENSMUSP00000034829
Gene: ENSMUSG00000032289
AA Change: D29G

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: D389G

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

SMART Domains

Protein: ENSMUSP00000096257
Gene: ENSMUSG00000032289
AA Change: D389G

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 damaging
Transcript: ENSMUST00000171654
AA Change: D389G

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

SMART Domains

Protein: ENSMUSP00000131418
Gene: ENSMUSG00000032289
AA Change: D389G

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: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 120,013,452	V273M	possibly damaging	Het
Acin1	CCGC	CC	14: 54,642,941		probably null	Het
Acvr1b	T	A	15: 101,193,976	C46S	probably damaging	Het
Ahi1	A	T	10: 20,970,919	H416L	possibly damaging	Het
Aspm	T	A	1: 139,478,334	L1653Q	probably damaging	Het
Cacna1a	G	A	8: 84,587,195	V1533M	possibly damaging	Het
Ccdc33	C	T	9: 58,032,984	E502K	possibly damaging	Het
Ctnnd1	C	T	2: 84,616,789	V371M	probably damaging	Het
Cyp2a12	A	T	7: 27,036,463		probably null	Het
Ep400	A	G	5: 110,668,630	V2675A	probably damaging	Het
Foxh1	T	A	15: 76,668,729		probably null	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gm10093	A	G	17: 78,492,438	E286G	probably benign	Het
Gm13078	T	A	4: 143,728,021	S296R	probably benign	Het
Gpnmb	C	T	6: 49,056,205	T539M	probably benign	Het
Hspa9	A	G	18: 34,952,671		probably null	Het
Hspg2	T	C	4: 137,543,914	L2454P	probably damaging	Het
Ift140	T	A	17: 25,035,812	I422N	probably benign	Het
Igkv6-32	T	C	6: 70,074,223	S50G	probably benign	Het
Il23r	T	A	6: 67,486,170	Y113F	probably benign	Het
Kcnt1	A	G	2: 25,903,422	D636G	probably benign	Het
Klhl41	G	A	2: 69,679,827	W569*	probably null	Het
Klra4	T	A	6: 130,062,147	D94V	probably damaging	Het
Lca5	T	A	9: 83,398,613	H378L	probably benign	Het
Lhx8	T	A	3: 154,321,644	T254S	probably damaging	Het
Lrch3	C	T	16: 32,914,397	R86W	probably damaging	Het
Lrp2	T	A	2: 69,524,053	N477I	probably damaging	Het
Man2a1	T	A	17: 64,712,271	I710K	probably benign	Het
Ncor1	A	T	11: 62,339,000	Y881N	probably damaging	Het
Nhsl1	T	A	10: 18,526,326	V1100E	probably damaging	Het
Olfr1208	T	C	2: 88,897,334	T88A	probably benign	Het
Olfr486	A	G	7: 108,172,708	V12A	probably benign	Het
Olfr855	T	C	9: 19,585,026	V163A	probably benign	Het
Oprk1	T	C	1: 5,589,296	V83A	probably benign	Het
Pacs1	C	T	19: 5,145,141	V472I	probably benign	Het
Pard3b	T	C	1: 62,344,113	Y789H	probably damaging	Het
Pcdha2	T	C	18: 36,940,791	Y492H	probably damaging	Het
Pcnt	T	C	10: 76,380,272	N2261D	probably damaging	Het
Pex5l	A	T	3: 32,958,796	S15T	probably damaging	Het
Plekhg4	A	G	8: 105,378,949	N682S	probably benign	Het
Poc5	A	T	13: 96,402,955	M335L	probably benign	Het
Polr1a	C	T	6: 71,967,907	R1316W	possibly damaging	Het
Pp2d1	T	C	17: 53,507,845	H617R	probably benign	Het
Prpsap1	T	C	11: 116,488,148	K65E	probably benign	Het
Ptgfrn	T	C	3: 101,045,593	E775G	probably benign	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Rbbp8	C	A	18: 11,721,690	A324E	probably benign	Het
Rfx6	G	T	10: 51,677,996	G63*	probably null	Het
Rpl37a	T	C	1: 72,712,149	M47T	probably benign	Het
Samm50	T	G	15: 84,200,630	N187K	probably benign	Het
Skiv2l	A	G	17: 34,845,166		probably null	Het
Slamf9	T	C	1: 172,476,232	I48T	possibly damaging	Het
Slc2a12	A	G	10: 22,702,032	K576E	probably damaging	Het
Slc4a10	G	A	2: 62,253,366	G388S	probably damaging	Het
Smtn	G	T	11: 3,529,530	N512K	probably benign	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Sspo	A	G	6: 48,478,324	Y3040C	probably damaging	Het
Stat1	T	A	1: 52,144,242	V389E	probably damaging	Het
Sult5a1	A	T	8: 123,145,422	M227K	probably damaging	Het
Tnxb	T	C	17: 34,704,078	V2545A	possibly damaging	Het
Tpo	T	A	12: 30,092,590	I712F	probably damaging	Het
Trim62	T	C	4: 128,909,411	V418A	probably damaging	Het
Uqcrc1	C	A	9: 108,942,156	H95N	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r66	T	C	7: 85,007,885	D104G	probably benign	Het
Wdr26	T	C	1: 181,187,686	I371V	probably benign	Het
Wdr78	T	A	4: 103,049,403	S738C	possibly damaging	Het
Zfp273	T	G	13: 67,826,179	C475W	probably damaging	Het
Zfp738	G	T	13: 67,673,063	T55K	probably damaging	Het
Zmym2	A	G	14: 56,946,514	I978V	probably benign	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
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'- GAACTCACCTAAGTAGTTGTTGC -3'
(R):5'- GTGCATATGGGTACATGGGC -3'

Sequencing Primer
(F):5'- CACCTAAGTAGTTGTTGCTCTTG -3'
(R):5'- CTCACTGGTTGCCTAGAGACTAG -3'

Posted On

2016-07-22