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

B230114P05Rik, ADAMTSL6

MMRRC Submission

044352-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R6220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59874214-60429329 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59890030 bp (GRCm39)

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
Abhd16b	A	G	2: 181,135,578 (GRCm39)	D160G	probably damaging	Het
Acap1	A	G	11: 69,780,505 (GRCm39)	F15S	probably damaging	Het
Adam30	A	T	3: 98,068,625 (GRCm39)	S153C	probably damaging	Het
Afp	A	T	5: 90,652,269 (GRCm39)	D420V	possibly damaging	Het
Ak9	T	A	10: 41,246,095 (GRCm39)	H729Q	unknown	Het
Armh3	T	C	19: 45,834,554 (GRCm39)	E618G	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bcr	A	G	10: 74,898,124 (GRCm39)	T423A	probably benign	Het
Cc2d1b	C	T	4: 108,490,422 (GRCm39)	R825W	probably damaging	Het
Ctns	T	C	11: 73,083,954 (GRCm39)	T23A	probably benign	Het
Ddx54	T	A	5: 120,758,754 (GRCm39)	N332K	probably benign	Het
Dysf	T	A	6: 84,126,727 (GRCm39)	I1344N	probably damaging	Het
Elovl3	A	T	19: 46,122,939 (GRCm39)	M172L	probably benign	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Filip1l	T	A	16: 57,390,352 (GRCm39)	N313K	probably benign	Het
Foxp2	C	A	6: 15,437,947 (GRCm39)	T716K	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm10645	A	G	8: 83,892,386 (GRCm39)		probably benign	Het
Gm10735	T	C	13: 113,178,030 (GRCm39)		probably benign	Het
Gm4847	A	T	1: 166,462,541 (GRCm39)	D316E	probably damaging	Het
Gorasp2	T	C	2: 70,521,134 (GRCm39)	L388P	probably damaging	Het
Heatr5b	A	G	17: 79,081,106 (GRCm39)	L1382P	probably damaging	Het
Herc1	A	G	9: 66,341,070 (GRCm39)	Y1729C	probably damaging	Het
Ifi207	A	T	1: 173,557,112 (GRCm39)	L542H	probably damaging	Het
Ighv3-5	T	A	12: 114,226,338 (GRCm39)	N96I	probably damaging	Het
Isl1	T	C	13: 116,439,803 (GRCm39)	T182A	probably benign	Het
Jph4	T	C	14: 55,347,542 (GRCm39)	E421G	probably benign	Het
Lrrc45	T	C	11: 120,610,353 (GRCm39)	I488T	probably benign	Het
Mroh8	A	G	2: 157,075,083 (GRCm39)	I471T	probably benign	Het
Ms4a2	A	T	19: 11,594,927 (GRCm39)	D96E	probably damaging	Het
Mst1r	T	A	9: 107,784,547 (GRCm39)	N68K	probably benign	Het
Myo18b	A	G	5: 112,905,373 (GRCm39)	M2075T	possibly damaging	Het
Neb	T	C	2: 52,160,984 (GRCm39)	K2229R	probably null	Het
Nkx6-3	T	A	8: 23,643,987 (GRCm39)		probably null	Het
Nlrp1a	C	A	11: 71,033,164 (GRCm39)	S10I	probably benign	Het
Npas2	A	T	1: 39,375,142 (GRCm39)	T487S	probably benign	Het
Nrxn1	G	C	17: 91,395,904 (GRCm39)	T84R	probably benign	Het
Or4k2	C	A	14: 50,424,135 (GRCm39)	D180Y	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh18	A	G	3: 49,699,700 (GRCm39)	C921R	probably damaging	Het
Pcdha9	A	G	18: 37,131,531 (GRCm39)	Y200C	probably damaging	Het
Pknox1	A	T	17: 31,822,177 (GRCm39)	R315*	probably null	Het
Rasgrp1	C	T	2: 117,115,410 (GRCm39)	W726*	probably null	Het
Rassf8	G	A	6: 145,762,859 (GRCm39)	R402H	probably damaging	Het
Rev3l	T	A	10: 39,698,775 (GRCm39)	Y1091N	probably damaging	Het
Riok3	T	G	18: 12,282,608 (GRCm39)	V349G	probably damaging	Het
Rps18	A	T	17: 34,174,110 (GRCm39)	V15E	probably damaging	Het
Rptor	A	T	11: 119,788,268 (GRCm39)	Y1323F	possibly damaging	Het
Rspry1	T	C	8: 95,385,378 (GRCm39)	C437R	probably damaging	Het
Sema5a	T	A	15: 32,686,875 (GRCm39)	Y996N	probably damaging	Het
Smarcad1	A	G	6: 65,091,313 (GRCm39)	I1011M	probably benign	Het
Supv3l1	A	T	10: 62,274,800 (GRCm39)	M295K	possibly damaging	Het
Sv2c	T	C	13: 96,113,134 (GRCm39)	D605G	probably damaging	Het
Teddm1b	G	A	1: 153,750,947 (GRCm39)	W252*	probably null	Het
Tes	T	A	6: 17,086,195 (GRCm39)	C29*	probably null	Het
Treml4	A	T	17: 48,571,876 (GRCm39)	D93V	possibly damaging	Het
Trim66	T	C	7: 109,082,300 (GRCm39)	T218A	probably damaging	Het
Tssk5	T	C	15: 76,257,973 (GRCm39)	D128G	probably damaging	Het
Ubr3	T	A	2: 69,850,819 (GRCm39)	W1746R	probably damaging	Het
Vmn2r11	T	C	5: 109,201,434 (GRCm39)	I357V	probably benign	Het
Vmn2r87	A	T	10: 130,315,807 (GRCm39)	D86E	probably benign	Het
Zfp184	T	G	13: 22,144,377 (GRCm39)	H694Q	probably damaging	Het
Zranb3	A	C	1: 127,927,141 (GRCm39)	F341L	probably benign	Het

Other mutations in Thsd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02206:Thsd4	APN	9	60,301,398 (GRCm39)	missense	probably benign	0.22
IGL02418:Thsd4	APN	9	60,335,598 (GRCm39)	missense	probably damaging	0.99
IGL02491:Thsd4	APN	9	59,907,301 (GRCm39)	missense	probably damaging	0.99
IGL02754:Thsd4	APN	9	59,896,380 (GRCm39)	splice site	probably benign
IGL02874:Thsd4	APN	9	60,160,013 (GRCm39)	missense	probably damaging	1.00
IGL02978:Thsd4	APN	9	59,964,129 (GRCm39)	splice site	probably null
IGL03139:Thsd4	APN	9	59,904,456 (GRCm39)	missense	probably benign	0.01
R0266:Thsd4	UTSW	9	59,904,417 (GRCm39)	missense	probably benign	0.07
R0482:Thsd4	UTSW	9	59,910,261 (GRCm39)	missense	probably damaging	1.00
R1188:Thsd4	UTSW	9	60,301,689 (GRCm39)	missense	probably benign	0.12
R1447:Thsd4	UTSW	9	59,904,496 (GRCm39)	missense	probably benign
R1572:Thsd4	UTSW	9	60,301,836 (GRCm39)	splice site	probably benign
R1812:Thsd4	UTSW	9	59,964,220 (GRCm39)	missense	probably damaging	1.00
R2349:Thsd4	UTSW	9	59,879,798 (GRCm39)	missense	probably benign	0.05
R3236:Thsd4	UTSW	9	60,301,670 (GRCm39)	missense	probably benign
R4088:Thsd4	UTSW	9	59,904,505 (GRCm39)	missense	probably benign	0.02
R4884:Thsd4	UTSW	9	59,895,320 (GRCm39)	missense	probably benign	0.43
R4886:Thsd4	UTSW	9	59,896,313 (GRCm39)	missense	probably benign	0.00
R5066:Thsd4	UTSW	9	59,883,615 (GRCm39)	missense	probably damaging	1.00
R5223:Thsd4	UTSW	9	59,964,325 (GRCm39)	missense	probably damaging	1.00
R5441:Thsd4	UTSW	9	59,887,066 (GRCm39)	missense	probably damaging	1.00
R5457:Thsd4	UTSW	9	59,887,060 (GRCm39)	missense	probably damaging	1.00
R5574:Thsd4	UTSW	9	59,879,683 (GRCm39)	missense	probably damaging	1.00
R5581:Thsd4	UTSW	9	59,879,741 (GRCm39)	missense	possibly damaging	0.90
R5903:Thsd4	UTSW	9	60,301,389 (GRCm39)	missense	possibly damaging	0.47
R6728:Thsd4	UTSW	9	59,904,480 (GRCm39)	missense	probably benign
R7102:Thsd4	UTSW	9	59,883,587 (GRCm39)	missense	probably damaging	1.00
R7316:Thsd4	UTSW	9	59,894,642 (GRCm39)	missense	probably benign	0.00
R7403:Thsd4	UTSW	9	59,964,170 (GRCm39)	missense	probably damaging	0.99
R7638:Thsd4	UTSW	9	60,301,755 (GRCm39)	missense	probably damaging	1.00
R7671:Thsd4	UTSW	9	60,335,457 (GRCm39)	missense	probably benign
R7856:Thsd4	UTSW	9	59,910,144 (GRCm39)	missense	probably damaging	1.00
R8671:Thsd4	UTSW	9	60,301,728 (GRCm39)	missense	probably damaging	0.98
R9104:Thsd4	UTSW	9	59,964,179 (GRCm39)	missense	possibly damaging	0.95
R9182:Thsd4	UTSW	9	59,894,649 (GRCm39)	missense	probably benign	0.00
R9252:Thsd4	UTSW	9	59,964,230 (GRCm39)	missense	probably benign	0.04
R9663:Thsd4	UTSW	9	59,890,026 (GRCm39)	missense	probably damaging	1.00
Z1177:Thsd4	UTSW	9	59,895,377 (GRCm39)	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