Mutagenetix > Incidental Mutation

Incidental Mutation 'R3236:Thsd4'

259033

Institutional Source

Beutler Lab

Gene Symbol

Thsd4

Ensembl Gene

ENSMUSG00000032289

Gene Name

thrombospondin, type I, domain containing 4

Synonyms

B230114P05Rik, ADAMTSL6

MMRRC Submission

040618-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R3236 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59874214-60429329 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 60301670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 208 (K208N)

Ref Sequence

ENSEMBL: ENSMUSP00000131418 (fasta)

Gene Model

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

AlphaFold

Q3UTY6

Predicted Effect

probably benign
Transcript: ENSMUST00000098660
AA Change: K208N

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

SMART Domains

Protein: ENSMUSP00000096257
Gene: ENSMUSG00000032289
AA Change: K208N

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: ENSMUST00000171654
AA Change: K208N

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

SMART Domains

Protein: ENSMUSP00000131418
Gene: ENSMUSG00000032289
AA Change: K208N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216899

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
5730455P16Rik	G	A	11: 80,258,996 (GRCm39)	L255F	probably damaging	Het
Aff2	T	A	X: 68,907,543 (GRCm39)	V1175E	possibly damaging	Het
Agbl3	A	G	6: 34,800,022 (GRCm39)		probably null	Het
Armh3	A	T	19: 45,963,722 (GRCm39)		probably benign	Het
Atm	T	A	9: 53,391,048 (GRCm39)	D1842V	probably benign	Het
Bcar3	C	A	3: 122,318,645 (GRCm39)	Q678K	probably benign	Het
Ccdc88a	A	G	11: 29,397,995 (GRCm39)	T243A	possibly damaging	Het
Col5a3	G	T	9: 20,718,949 (GRCm39)	N268K	unknown	Het
Col6a1	G	A	10: 76,547,154 (GRCm39)	T737M	unknown	Het
Cyp3a25	T	C	5: 145,939,938 (GRCm39)		probably benign	Het
Dnah17	T	C	11: 117,985,680 (GRCm39)	T1466A	probably benign	Het
Dnah9	G	A	11: 65,845,815 (GRCm39)	T3023I	probably benign	Het
Ecm1	G	T	3: 95,642,158 (GRCm39)	Q476K	possibly damaging	Het
Eml6	A	G	11: 29,781,097 (GRCm39)		probably null	Het
Fbh1	T	C	2: 11,774,637 (GRCm39)	D36G	probably damaging	Het
Fyb1	A	C	15: 6,659,597 (GRCm39)	D434A	probably damaging	Het
Gm5478	A	G	15: 101,552,738 (GRCm39)	Y398H	probably damaging	Het
H2-Q6	C	A	17: 35,644,676 (GRCm39)	T155K	probably damaging	Het
Hk1	T	C	10: 62,131,798 (GRCm39)		probably null	Het
Kdm6b	A	G	11: 69,297,192 (GRCm39)	Y387H	probably damaging	Het
Lipn	A	G	19: 34,046,138 (GRCm39)	N37S	probably benign	Het
Lrig3	G	A	10: 125,833,056 (GRCm39)	C310Y	probably damaging	Het
Map6	T	A	7: 98,986,031 (GRCm39)	V645E	probably damaging	Het
Memo1	A	T	17: 74,509,347 (GRCm39)	I224K	probably damaging	Het
Morc2a	T	C	11: 3,633,612 (GRCm39)	I602T	probably benign	Het
N4bp3	A	T	11: 51,536,761 (GRCm39)	F104Y	probably damaging	Het
Ndrg3	T	A	2: 156,785,957 (GRCm39)	I161F	probably damaging	Het
Notch3	T	C	17: 32,377,435 (GRCm39)	R214G	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or14j10	T	C	17: 37,935,127 (GRCm39)	E133G	possibly damaging	Het
Or4p7	T	C	2: 88,221,750 (GRCm39)	I53T	probably benign	Het
Pdgfra	T	C	5: 75,328,597 (GRCm39)	V243A	probably damaging	Het
Piwil4	A	G	9: 14,611,544 (GRCm39)		probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pon2	A	T	6: 5,266,986 (GRCm39)	N252K	possibly damaging	Het
Ptf1a	T	C	2: 19,450,718 (GRCm39)	F16S	probably damaging	Het
Rasgrp1	A	G	2: 117,122,293 (GRCm39)	Y366H	probably benign	Het
Rbfox1	G	A	16: 7,225,892 (GRCm39)	V353I	possibly damaging	Het
Rrh	T	C	3: 129,605,360 (GRCm39)	Y110C	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scaf4	T	A	16: 90,057,105 (GRCm39)	D82V	unknown	Het
Serhl	C	A	15: 82,988,604 (GRCm39)	P177Q	probably damaging	Het
Setdb1	A	G	3: 95,246,065 (GRCm39)	V619A	probably damaging	Het
Sf3b3	A	G	8: 111,538,652 (GRCm39)	S1123P	probably damaging	Het
Slc1a3	T	C	15: 8,668,607 (GRCm39)	I453V	probably damaging	Het
Slf2	A	G	19: 44,930,773 (GRCm39)	I617V	probably benign	Het
Snrnp200	T	A	2: 127,063,802 (GRCm39)	D660E	probably damaging	Het
Spata22	T	A	11: 73,236,713 (GRCm39)	F340I	probably damaging	Het
Speer4e1	T	A	5: 14,984,939 (GRCm39)	E206D	possibly damaging	Het
Stard6	T	A	18: 70,633,557 (GRCm39)	M188K	probably damaging	Het
Stat6	G	A	10: 127,488,091 (GRCm39)	V282I	possibly damaging	Het
Supt20	T	C	3: 54,616,501 (GRCm39)	S253P	possibly damaging	Het
Szt2	A	C	4: 118,240,231 (GRCm39)		probably null	Het
Thsd7b	C	T	1: 130,145,855 (GRCm39)	Q1588*	probably null	Het
Tmem167	C	T	13: 90,252,499 (GRCm39)	R52C	probably benign	Het
Ttn	T	C	2: 76,729,753 (GRCm39)		probably benign	Het
Usp39	G	A	6: 72,315,372 (GRCm39)		probably benign	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r24	C	T	6: 123,755,984 (GRCm39)	Q19*	probably null	Het
Vps13b	G	A	15: 35,910,450 (GRCm39)	E3405K	probably benign	Het
Zgrf1	A	G	3: 127,407,024 (GRCm39)	D1597G	probably damaging	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
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
R6220:Thsd4	UTSW	9	59,890,030 (GRCm39)	missense	probably damaging	1.00
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'- TCAGTTCCGGTCTGTGGAAGAG -3'
(R):5'- GGTCCAGAGCCTTTGAGTTG -3'

Sequencing Primer
(F):5'- TCTGTGGAAGAGACTCGACGC -3'
(R):5'- ATGCAGTTCACGTGACTCTG -3'

Posted On

2015-01-23