Mutagenetix > Incidental Mutation

Incidental Mutation 'R6220:Thsd4'

503953

Institutional Source

Beutler Lab

Gene Symbol

Thsd4

Ensembl Gene

ENSMUSG00000032289

Gene Name

thrombospondin, type I, domain containing 4

Synonyms

ADAMTSL6, B230114P05Rik

MMRRC Submission

044352-MU

Accession Numbers

Essential gene?

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

Stock #

R6220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59966931-60522046 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59982747 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 856 (W856R)

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: W496R

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

SMART Domains

Protein: ENSMUSP00000034829
Gene: ENSMUSG00000032289
AA Change: W496R

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: W856R

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

SMART Domains

Protein: ENSMUSP00000096257
Gene: ENSMUSG00000032289
AA Change: W856R

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: W856R

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

SMART Domains

Protein: ENSMUSP00000131418
Gene: ENSMUSG00000032289
AA Change: W856R

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

0.9451

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	T	C	19: 45,846,115	E618G	possibly damaging	Het
Abhd16b	A	G	2: 181,493,785	D160G	probably damaging	Het
Acap1	A	G	11: 69,889,679	F15S	probably damaging	Het
Adam30	A	T	3: 98,161,309	S153C	probably damaging	Het
Afp	A	T	5: 90,504,410	D420V	possibly damaging	Het
Ak9	T	A	10: 41,370,099	H729Q	unknown	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bcr	A	G	10: 75,062,292	T423A	probably benign	Het
Cc2d1b	C	T	4: 108,633,225	R825W	probably damaging	Het
Ctns	T	C	11: 73,193,128	T23A	probably benign	Het
Ddx54	T	A	5: 120,620,689	N332K	probably benign	Het
Dysf	T	A	6: 84,149,745	I1344N	probably damaging	Het
Elovl3	A	T	19: 46,134,500	M172L	probably benign	Het
Fbxo6	A	T	4: 148,149,522	I39N	probably damaging	Het
Filip1l	T	A	16: 57,569,989	N313K	probably benign	Het
Foxp2	C	A	6: 15,437,948	T716K	probably damaging	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm10645	A	G	8: 83,165,757		probably benign	Het
Gm10735	T	C	13: 113,041,496		probably benign	Het
Gm4847	A	T	1: 166,634,972	D316E	probably damaging	Het
Gorasp2	T	C	2: 70,690,790	L388P	probably damaging	Het
Heatr5b	A	G	17: 78,773,677	L1382P	probably damaging	Het
Herc1	A	G	9: 66,433,788	Y1729C	probably damaging	Het
Ifi207	A	T	1: 173,729,546	L542H	probably damaging	Het
Ighv3-5	T	A	12: 114,262,718	N96I	probably damaging	Het
Isl1	T	C	13: 116,303,267	T182A	probably benign	Het
Jph4	T	C	14: 55,110,085	E421G	probably benign	Het
Lrrc45	T	C	11: 120,719,527	I488T	probably benign	Het
Mroh8	A	G	2: 157,233,163	I471T	probably benign	Het
Ms4a2	A	T	19: 11,617,563	D96E	probably damaging	Het
Mst1r	T	A	9: 107,907,348	N68K	probably benign	Het
Myo18b	A	G	5: 112,757,507	M2075T	possibly damaging	Het
Neb	T	C	2: 52,270,972	K2229R	probably null	Het
Nkx6-3	T	A	8: 23,153,971		probably null	Het
Nlrp1a	C	A	11: 71,142,338	S10I	probably benign	Het
Npas2	A	T	1: 39,336,061	T487S	probably benign	Het
Nrxn1	G	C	17: 91,088,476	T84R	probably benign	Het
Olfr730	C	A	14: 50,186,678	D180Y	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdh18	A	G	3: 49,745,251	C921R	probably damaging	Het
Pcdha9	A	G	18: 36,998,478	Y200C	probably damaging	Het
Pknox1	A	T	17: 31,603,203	R315*	probably null	Het
Rasgrp1	C	T	2: 117,284,929	W726*	probably null	Het
Rassf8	G	A	6: 145,817,133	R402H	probably damaging	Het
Rev3l	T	A	10: 39,822,779	Y1091N	probably damaging	Het
Riok3	T	G	18: 12,149,551	V349G	probably damaging	Het
Rps18	A	T	17: 33,955,136	V15E	probably damaging	Het
Rptor	A	T	11: 119,897,442	Y1323F	possibly damaging	Het
Rspry1	T	C	8: 94,658,750	C437R	probably damaging	Het
Sema5a	T	A	15: 32,686,729	Y996N	probably damaging	Het
Smarcad1	A	G	6: 65,114,329	I1011M	probably benign	Het
Supv3l1	A	T	10: 62,439,021	M295K	possibly damaging	Het
Sv2c	T	C	13: 95,976,626	D605G	probably damaging	Het
Teddm1b	G	A	1: 153,875,201	W252*	probably null	Het
Tes	T	A	6: 17,086,196	C29*	probably null	Het
Treml4	A	T	17: 48,264,848	D93V	possibly damaging	Het
Trim66	T	C	7: 109,483,093	T218A	probably damaging	Het
Tssk5	T	C	15: 76,373,773	D128G	probably damaging	Het
Ubr3	T	A	2: 70,020,475	W1746R	probably damaging	Het
Vmn2r11	T	C	5: 109,053,568	I357V	probably benign	Het
Vmn2r87	A	T	10: 130,479,938	D86E	probably benign	Het
Zfp184	T	G	13: 21,960,207	H694Q	probably damaging	Het
Zranb3	A	C	1: 127,999,404	F341L	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
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
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'- GCACACTCAACCTTCTTGGC -3'
(R):5'- TTGGAAGGATCCCCAGAACC -3'

Sequencing Primer
(F):5'- TGACCAAGGTGAGCACGC -3'
(R):5'- GGATCCCCAGAACCTGCATG -3'

Posted On

2018-02-27