Mutagenetix > Incidental Mutation

Incidental Mutation 'R4886:Thsd4'

375733

Institutional Source

Beutler Lab

Gene Symbol

Thsd4

Ensembl Gene

ENSMUSG00000032289

Gene Name

thrombospondin, type I, domain containing 4

Synonyms

B230114P05Rik, ADAMTSL6

MMRRC Submission

042492-MU

Accession Numbers

Essential gene?

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

Stock #

R4886 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59874214-60429329 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59896313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 657 (Y657F)

Ref Sequence

ENSEMBL: ENSMUSP00000131418 (fasta)

Gene Model

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

AlphaFold

Q3UTY6

Predicted Effect

probably benign
Transcript: ENSMUST00000034829
AA Change: Y297F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000034829
Gene: ENSMUSG00000032289
AA Change: Y297F

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 benign
Transcript: ENSMUST00000098660
AA Change: Y657F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000096257
Gene: ENSMUSG00000032289
AA Change: Y657F

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

noncoding transcript
Transcript: ENSMUST00000126347

Predicted Effect

probably benign
Transcript: ENSMUST00000171654
AA Change: Y657F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000131418
Gene: ENSMUSG00000032289
AA Change: Y657F

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: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	A	T	2: 32,464,630 (GRCm39)		probably benign	Het
Aagab	G	C	9: 63,543,738 (GRCm39)	A231P	possibly damaging	Het
Adgra3	C	T	5: 50,156,537 (GRCm39)	D398N	probably benign	Het
Ap3b1	A	T	13: 94,609,313 (GRCm39)	D616V	possibly damaging	Het
Apc2	T	A	10: 80,150,047 (GRCm39)	H1700Q	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp2b4	T	A	1: 133,634,518 (GRCm39)	I1177L	probably benign	Het
Card6	T	C	15: 5,134,623 (GRCm39)		probably null	Het
Cdk13	A	G	13: 17,894,319 (GRCm39)	S1103P	probably benign	Het
Cdk6	G	T	5: 3,394,444 (GRCm39)	K26N	possibly damaging	Het
Cfap221	T	C	1: 119,861,934 (GRCm39)	T614A	probably damaging	Het
Cfap221	T	A	1: 119,912,488 (GRCm39)	Y133F	probably damaging	Het
Clcc1	A	G	3: 108,584,154 (GRCm39)	T513A	probably benign	Het
Clec4g	T	A	8: 3,766,419 (GRCm39)		probably benign	Het
Cntln	A	C	4: 84,889,466 (GRCm39)	E316D	probably benign	Het
Col6a4	A	G	9: 105,937,271 (GRCm39)	I1415T	probably benign	Het
Cpne2	T	A	8: 95,290,592 (GRCm39)	D392E	probably benign	Het
Cpz	T	C	5: 35,664,048 (GRCm39)	N496D	probably damaging	Het
Cyp3a59	A	G	5: 146,024,197 (GRCm39)	D61G	probably damaging	Het
Cyp4a29	T	C	4: 115,110,078 (GRCm39)	V440A	probably benign	Het
Dbn1	A	T	13: 55,625,355 (GRCm39)		probably benign	Het
Ddx46	A	G	13: 55,786,012 (GRCm39)	D64G	unknown	Het
Dhrs7c	G	A	11: 67,700,620 (GRCm39)	V56M	probably damaging	Het
Dnhd1	T	A	7: 105,364,015 (GRCm39)	H4122Q	probably benign	Het
Ecm2	A	T	13: 49,676,263 (GRCm39)	I327F	possibly damaging	Het
Elavl3	T	C	9: 21,937,614 (GRCm39)	K189E	possibly damaging	Het
Enam	A	T	5: 88,636,593 (GRCm39)	R82*	probably null	Het
Fat3	T	A	9: 15,932,626 (GRCm39)	I1436F	probably benign	Het
Glt8d2	T	C	10: 82,487,874 (GRCm39)		probably benign	Het
Grin2c	T	C	11: 115,151,616 (GRCm39)	T115A	probably damaging	Het
H6pd	C	T	4: 150,067,235 (GRCm39)	V384M	possibly damaging	Het
Hba-x	A	G	11: 32,227,008 (GRCm39)	E39G	probably benign	Het
Hcar2	G	A	5: 124,003,260 (GRCm39)	T81M	probably benign	Het
Herpud2	G	A	9: 25,036,285 (GRCm39)	P125L	probably benign	Het
Hnrnpul2	C	T	19: 8,807,191 (GRCm39)	P618S	probably benign	Het
Hpse2	T	C	19: 43,373,203 (GRCm39)	Y142C	probably damaging	Het
Iqcm	A	T	8: 76,615,228 (GRCm39)	R436S	possibly damaging	Het
Itih1	A	G	14: 30,658,658 (GRCm39)		probably null	Het
Kcnk10	T	C	12: 98,401,418 (GRCm39)	N405S	possibly damaging	Het
Klhl14	A	T	18: 21,691,029 (GRCm39)		probably null	Het
L3mbtl3	T	A	10: 26,168,668 (GRCm39)	E587V	unknown	Het
Leap2	A	T	11: 53,313,653 (GRCm39)	F40I	probably damaging	Het
Leng8	T	A	7: 4,147,930 (GRCm39)		probably null	Het
Lrrc66	A	G	5: 73,765,910 (GRCm39)	F378L	probably benign	Het
Mansc1	T	C	6: 134,587,625 (GRCm39)	H184R	probably benign	Het
Map10	T	A	8: 126,397,431 (GRCm39)	Y275N	probably damaging	Het
Med23	T	C	10: 24,750,581 (GRCm39)		probably null	Het
Mpp3	A	G	11: 101,915,962 (GRCm39)	Y55H	probably benign	Het
Mrpl17	T	C	7: 105,459,260 (GRCm39)	N112S	probably benign	Het
Nectin4	T	C	1: 171,212,383 (GRCm39)	V327A	possibly damaging	Het
Nlrp14	A	T	7: 106,781,862 (GRCm39)	H353L	probably benign	Het
Notch2	A	T	3: 98,009,735 (GRCm39)	Y554F	probably damaging	Het
Nphp3	T	C	9: 103,880,193 (GRCm39)	S72P	probably damaging	Het
Nrsn2	T	C	2: 152,211,531 (GRCm39)	K167E	probably benign	Het
Or14j8	A	T	17: 38,262,962 (GRCm39)	S318T	probably benign	Het
Or5b117	T	C	19: 13,431,885 (GRCm39)		probably null	Het
Or8g30	T	C	9: 39,230,881 (GRCm39)	T10A	probably benign	Het
Or9i2	T	A	19: 13,815,643 (GRCm39)	E298V	probably damaging	Het
Osbpl9	T	C	4: 108,925,564 (GRCm39)	N485S	probably benign	Het
Pbk	T	A	14: 66,052,650 (GRCm39)	H164Q	probably damaging	Het
Pfn2	G	T	3: 57,754,874 (GRCm39)	N10K	probably damaging	Het
Pi4ka	A	G	16: 17,176,225 (GRCm39)	S405P		Het
Pik3ca	A	G	3: 32,491,312 (GRCm39)	D133G	probably damaging	Het
Pramel27	G	T	4: 143,579,873 (GRCm39)	R486L	probably benign	Het
Prkar2a	G	A	9: 108,622,823 (GRCm39)		probably null	Het
Prl6a1	A	T	13: 27,502,983 (GRCm39)	D193V	probably damaging	Het
Psg25	A	T	7: 18,258,838 (GRCm39)	D279E	probably benign	Het
Rad21	G	T	15: 51,831,896 (GRCm39)	P395Q	probably damaging	Het
Rnf168	C	A	16: 32,118,014 (GRCm39)	T525K	probably benign	Het
Rpn2	T	C	2: 157,159,964 (GRCm39)		probably null	Het
Rreb1	G	A	13: 38,115,034 (GRCm39)	V798M	possibly damaging	Het
Scgb3a2	C	T	18: 43,899,819 (GRCm39)	P36S	probably damaging	Het
Scn3a	T	C	2: 65,291,376 (GRCm39)	D1790G	probably damaging	Het
Sec24b	A	T	3: 129,777,619 (GRCm39)	H1226Q	probably benign	Het
Sec63	T	A	10: 42,665,389 (GRCm39)	Y106*	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc12a3	G	A	8: 95,078,438 (GRCm39)		probably null	Het
Slc6a1	T	A	6: 114,279,494 (GRCm39)	I91N	possibly damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
St8sia1	G	A	6: 142,859,860 (GRCm39)	L90F	probably damaging	Het
Thsd7a	A	T	6: 12,327,659 (GRCm39)	C1404*	probably null	Het
Tma16	A	C	8: 66,934,129 (GRCm39)	C75W	probably damaging	Het
Trgv4	T	C	13: 19,369,236 (GRCm39)	V29A	probably benign	Het
Trim3	T	A	7: 105,267,047 (GRCm39)	H444L	probably damaging	Het
Trmt10a	A	T	3: 137,854,146 (GRCm39)	K75*	probably null	Het
Ttn	T	C	2: 76,561,644 (GRCm39)	D28954G	probably damaging	Het
Uggt2	A	G	14: 119,273,376 (GRCm39)		probably null	Het
Vars1	T	A	17: 35,234,702 (GRCm39)	V1177E	probably benign	Het
Vmn2r114	G	T	17: 23,527,008 (GRCm39)	A508E	probably benign	Het
Vmn2r19	G	T	6: 123,286,800 (GRCm39)	K144N	probably benign	Het
Wdr41	C	T	13: 95,151,682 (GRCm39)	Q281*	probably null	Het
Zfp938	T	A	10: 82,061,957 (GRCm39)	Q221L	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
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'- TGCACATCAAATTTGAATGGGG -3'
(R):5'- GTGCCCACTCTATGCATACC -3'

Sequencing Primer
(F):5'- TGGGGTTAAAAATCCAAATGCATGC -3'
(R):5'- GCATACCCCATTAACTAGTGAGTTC -3'

Posted On

2016-03-17