Mutagenetix > Incidental Mutation

Incidental Mutation 'R8671:Thsd4'

661166

Institutional Source

Beutler Lab

Gene Symbol

Thsd4

Ensembl Gene

ENSMUSG00000032289

Gene Name

thrombospondin, type I, domain containing 4

Synonyms

ADAMTSL6, B230114P05Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R8671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59966931-60522046 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60394445 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 189 (L189H)

Ref Sequence

ENSEMBL: ENSMUSP00000096257 (fasta)

Gene Model

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

AlphaFold

Q3UTY6

Predicted Effect

probably damaging
Transcript: ENSMUST00000098660
AA Change: L189H

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096257
Gene: ENSMUSG00000032289
AA Change: L189H

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: L189H

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131418
Gene: ENSMUSG00000032289
AA Change: L189H

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	C	T	4: 73,942,929	E145K	probably damaging	Het
4930430A15Rik	T	C	2: 111,229,532		probably benign	Het
4930467E23Rik	T	A	8: 19,734,759	L203*	probably null	Het
Ambp	A	T	4: 63,150,419	Y120*	probably null	Het
Ankrd36	C	T	11: 5,629,312	A192V	probably benign	Het
Apol7e	A	T	15: 77,717,603	M134L	probably benign	Het
Atg9b	A	T	5: 24,386,109	N774K	probably benign	Het
BC027072	G	T	17: 71,751,377	A435E	probably benign	Het
Catsperb	T	A	12: 101,594,337	N862K	possibly damaging	Het
Ccdc7a	T	A	8: 128,920,467	D648V	probably damaging	Het
Cfap54	G	T	10: 92,955,072	P1855T	unknown	Het
Clcnkb	T	A	4: 141,412,230	T154S	probably damaging	Het
Cux1	C	T	5: 136,250,600	R609H	probably damaging	Het
Eif2ak4	A	G	2: 118,422,186	D413G	possibly damaging	Het
Flnc	T	C	6: 29,443,502		probably null	Het
Grm5	T	C	7: 88,116,290		probably null	Het
Hectd3	T	G	4: 116,996,581	F225V	possibly damaging	Het
Hpcal4	G	T	4: 123,189,183	M107I	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ikbkap	A	G	4: 56,771,453	L948P	probably damaging	Het
Larp4	C	A	15: 100,010,458	Q607K	probably benign	Het
March8	A	G	6: 116,401,854	R250G	probably benign	Het
Med13	A	C	11: 86,271,097	N2135K	probably damaging	Het
Msh5	T	A	17: 35,045,933	R89*	probably null	Het
Musk	T	G	4: 58,286,051		probably benign	Het
Myo18b	T	C	5: 112,874,743	Q261R	unknown	Het
Npr1	A	T	3: 90,456,157		probably benign	Het
Nynrin	T	A	14: 55,870,442	V1002E	possibly damaging	Het
Olfr1138	A	T	2: 87,737,646	L226Q	probably damaging	Het
Olfr1195	A	T	2: 88,683,105	F209Y	probably benign	Het
Olfr1315-ps1	T	A	2: 112,110,988	K88M	probably damaging	Het
Olfr167	T	C	16: 19,515,054	Y194C	possibly damaging	Het
Pcdh9	T	C	14: 93,888,650	Y28C	probably damaging	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Prkd1	T	A	12: 50,388,408	N512I	probably benign	Het
Pwwp2b	C	T	7: 139,256,410	P589L	probably damaging	Het
Rasgrp4	G	A	7: 29,143,027	G242D	probably damaging	Het
Rcbtb1	T	G	14: 59,230,524	V480G	probably damaging	Het
Rptn	A	G	3: 93,398,194	S945G	probably benign	Het
Slc22a2	C	T	17: 12,605,976	Q242*	probably null	Het
Slfn3	T	A	11: 83,212,999	V232E	probably benign	Het
Stab1	T	A	14: 31,157,408	K705M	probably damaging	Het
Syn2	C	A	6: 115,278,167	S480*	probably null	Het
Tinagl1	T	C	4: 130,167,804	T250A	probably benign	Het
Tnc	A	T	4: 64,017,446	C418S	probably damaging	Het
Ube2q1	A	G	3: 89,776,078	E110G	probably damaging	Het
Wdfy4	G	T	14: 32,971,765		probably benign	Het
Xcl1	T	C	1: 164,931,850	M94V	probably benign	Het
Zfp369	T	C	13: 65,296,281	S413P	possibly damaging	Het
Zfp454	A	C	11: 50,873,768	I279S	possibly damaging	Het
Zfp971	A	C	2: 178,033,937	Q443P	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
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
R7671:Thsd4	UTSW	9	60428174	missense	probably benign
R7856:Thsd4	UTSW	9	60002861	missense	probably damaging	1.00
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'- TCTGTGGAAGAGACTCGACG -3'
(R):5'- TCTCTTCTGAGCCATGGGTC -3'

Sequencing Primer
(F):5'- CGACGCTGCAGGATAGCTTTG -3'
(R):5'- TTCTGAGCCATGGGTCCAGAG -3'

Posted On

2021-03-08