Mutagenetix > Incidental Mutation

Incidental Mutation 'R8231:Thbs4'

637158

Institutional Source

Beutler Lab

Gene Symbol

Thbs4

Ensembl Gene

ENSMUSG00000021702

Gene Name

thrombospondin 4

Synonyms

TSP4, TSP-4

MMRRC Submission

067663-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8231 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92888098-92931326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92911352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 277 (V277E)

Ref Sequence

ENSEMBL: ENSMUSP00000022213 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022213]

AlphaFold

Q9Z1T2

Predicted Effect

probably benign
Transcript: ENSMUST00000022213
AA Change: V277E

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

SMART Domains

Protein: ENSMUSP00000022213
Gene: ENSMUSG00000021702
AA Change: V277E

Domain	Start	End	E-Value	Type
low complexity region	6	18	N/A	INTRINSIC
TSPN	26	194	1.66e-51	SMART
Pfam:COMP	220	264	1.2e-24	PFAM
low complexity region	280	290	N/A	INTRINSIC
EGF	291	327	1.04e-3	SMART
EGF_CA	328	380	7.29e-8	SMART
EGF_CA	381	421	1.42e-10	SMART
EGF	425	464	4.32e-1	SMART
Pfam:TSP_3	498	533	7.1e-15	PFAM
Pfam:TSP_3	557	592	7.8e-17	PFAM
Pfam:TSP_3	616	653	1.4e-11	PFAM
Pfam:TSP_3	654	693	1.3e-10	PFAM
Pfam:TSP_3	694	729	1e-14	PFAM
Pfam:TSP_C	747	944	3.8e-102	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the thrombospondin protein family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentamer and can bind to heparin and calcium. It is involved in local signaling in the developing and adult nervous system, and it contributes to spinal sensitization and neuropathic pain states. This gene is activated during the stromal response to invasive breast cancer. It may also play a role in inflammatory responses in Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a targeted allele exhibit increased sensitivity to cardiac pressure overload, including increased hypertrophy, decreased ejection fraction, decreased microvessle number, increased extracellular matrix deposition and increased fibrosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	C	T	17: 85,000,213 (GRCm39)	R258C	probably damaging	Het
Acsf2	C	G	11: 94,452,188 (GRCm39)	E451D	probably benign	Het
Adam34	A	T	8: 44,104,659 (GRCm39)	S329T	probably benign	Het
Adamts16	A	G	13: 70,925,599 (GRCm39)	I535T	probably damaging	Het
Atp6v0d2	A	G	4: 19,881,451 (GRCm39)	F214S	probably damaging	Het
Btg4	A	G	9: 51,027,868 (GRCm39)	T13A	possibly damaging	Het
Ccdc121	T	A	5: 31,643,551 (GRCm39)	C94S	probably benign	Het
Cplane1	T	C	15: 8,248,511 (GRCm39)	Y1687H	probably benign	Het
Csmd1	A	T	8: 16,747,939 (GRCm39)	S271T	possibly damaging	Het
Cul9	T	C	17: 46,831,427 (GRCm39)	T1596A	probably damaging	Het
Cyp2a4	G	A	7: 26,012,362 (GRCm39)	D382N	probably benign	Het
Dbh	C	T	2: 27,060,555 (GRCm39)	R244C	probably benign	Het
Dennd11	A	T	6: 40,395,546 (GRCm39)	H187Q	probably benign	Het
Dnajc2	T	C	5: 21,966,689 (GRCm39)	K426R	probably benign	Het
Dock4	T	A	12: 40,752,950 (GRCm39)	M428K	possibly damaging	Het
Duox2	A	T	2: 122,120,044 (GRCm39)	M822K	possibly damaging	Het
Golga5	T	C	12: 102,438,558 (GRCm39)	V91A	probably benign	Het
Gpatch2l	T	C	12: 86,290,963 (GRCm39)	S49P	probably damaging	Het
Ints7	T	A	1: 191,328,465 (GRCm39)	L246*	probably null	Het
Kntc1	A	G	5: 123,920,959 (GRCm39)	T926A	possibly damaging	Het
Kyat1	T	C	2: 30,081,978 (GRCm39)	T54A	probably benign	Het
Megf6	C	G	4: 154,336,975 (GRCm39)	C359W	probably damaging	Het
Mlh3	A	G	12: 85,307,572 (GRCm39)		probably null	Het
Neb	C	A	2: 52,125,491 (GRCm39)		probably null	Het
Nyap2	A	T	1: 81,169,846 (GRCm39)	Q201L	probably benign	Het
Pibf1	T	G	14: 99,423,997 (GRCm39)	H523Q	probably benign	Het
Piezo1	A	G	8: 123,232,836 (GRCm39)	S133P		Het
Pnma8b	T	C	7: 16,680,515 (GRCm39)	C500R	probably benign	Het
Ptpra	A	G	2: 130,379,523 (GRCm39)	N359S	probably damaging	Het
Rce1	A	T	19: 4,675,078 (GRCm39)	I112N	probably damaging	Het
Rmdn1	T	C	4: 19,586,853 (GRCm39)	Y104H	probably benign	Het
Snx22	A	T	9: 65,975,480 (GRCm39)	D96E	probably benign	Het
Sox5	G	T	6: 143,974,014 (GRCm39)	Q245K	probably damaging	Het
Stat6	A	G	10: 127,482,842 (GRCm39)	D21G	possibly damaging	Het
Tbc1d15	T	C	10: 115,065,045 (GRCm39)	Y180C	probably damaging	Het
Tdrd6	T	C	17: 43,933,026 (GRCm39)	T2058A	probably damaging	Het
Tmem255b	A	G	8: 13,504,225 (GRCm39)	D139G	probably damaging	Het
Ttc27	C	A	17: 75,024,959 (GRCm39)	T18K	probably benign	Het
Zfp131	A	G	13: 120,237,348 (GRCm39)	F337L	probably damaging	Het

Other mutations in Thbs4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01680:Thbs4	APN	13	92,913,488 (GRCm39)	missense	probably benign	0.04
IGL02318:Thbs4	APN	13	92,900,092 (GRCm39)	missense	probably damaging	1.00
IGL02887:Thbs4	APN	13	92,927,306 (GRCm39)	missense	probably benign	0.00
IGL03205:Thbs4	APN	13	92,899,282 (GRCm39)	missense	probably damaging	1.00
IGL03382:Thbs4	APN	13	92,906,056 (GRCm39)	missense	probably benign	0.37
R0087:Thbs4	UTSW	13	92,891,743 (GRCm39)	missense	probably damaging	0.99
R0128:Thbs4	UTSW	13	92,890,918 (GRCm39)	missense	probably benign	0.00
R0130:Thbs4	UTSW	13	92,890,918 (GRCm39)	missense	probably benign	0.00
R0276:Thbs4	UTSW	13	92,912,040 (GRCm39)	missense	probably benign	0.00
R0423:Thbs4	UTSW	13	92,893,079 (GRCm39)	missense	probably damaging	0.99
R0504:Thbs4	UTSW	13	92,903,692 (GRCm39)	missense	probably benign	0.04
R0708:Thbs4	UTSW	13	92,909,694 (GRCm39)	missense	probably damaging	1.00
R0836:Thbs4	UTSW	13	92,894,546 (GRCm39)	missense	probably damaging	1.00
R1078:Thbs4	UTSW	13	92,899,434 (GRCm39)	splice site	probably benign
R1139:Thbs4	UTSW	13	92,911,226 (GRCm39)	missense	probably damaging	1.00
R1253:Thbs4	UTSW	13	92,913,413 (GRCm39)	missense	probably benign	0.17
R1342:Thbs4	UTSW	13	92,888,925 (GRCm39)	missense	probably damaging	1.00
R1416:Thbs4	UTSW	13	92,898,041 (GRCm39)	missense	probably benign
R1834:Thbs4	UTSW	13	92,897,989 (GRCm39)	missense	probably benign	0.00
R1950:Thbs4	UTSW	13	92,906,079 (GRCm39)	missense	probably damaging	0.99
R2056:Thbs4	UTSW	13	92,927,387 (GRCm39)	missense	probably benign	0.00
R2184:Thbs4	UTSW	13	92,911,302 (GRCm39)	missense	probably benign
R2198:Thbs4	UTSW	13	92,899,779 (GRCm39)	missense	possibly damaging	0.78
R2859:Thbs4	UTSW	13	92,927,216 (GRCm39)	missense	probably benign	0.02
R3605:Thbs4	UTSW	13	92,894,467 (GRCm39)	nonsense	probably null
R3783:Thbs4	UTSW	13	92,909,672 (GRCm39)	missense	probably benign	0.09
R3784:Thbs4	UTSW	13	92,909,672 (GRCm39)	missense	probably benign	0.09
R3786:Thbs4	UTSW	13	92,909,672 (GRCm39)	missense	probably benign	0.09
R3787:Thbs4	UTSW	13	92,909,672 (GRCm39)	missense	probably benign	0.09
R4061:Thbs4	UTSW	13	92,912,605 (GRCm39)	critical splice donor site	probably null
R4790:Thbs4	UTSW	13	92,899,314 (GRCm39)	missense	probably damaging	1.00
R4968:Thbs4	UTSW	13	92,894,576 (GRCm39)	missense	possibly damaging	0.55
R4983:Thbs4	UTSW	13	92,927,207 (GRCm39)	missense	probably benign	0.29
R5185:Thbs4	UTSW	13	92,911,675 (GRCm39)	missense	probably damaging	0.97
R5352:Thbs4	UTSW	13	92,900,098 (GRCm39)	missense	probably damaging	1.00
R5361:Thbs4	UTSW	13	92,913,501 (GRCm39)	missense	probably benign
R5589:Thbs4	UTSW	13	92,912,582 (GRCm39)	splice site	probably null
R5700:Thbs4	UTSW	13	92,913,461 (GRCm39)	missense	probably benign	0.00
R6061:Thbs4	UTSW	13	92,888,303 (GRCm39)	missense	probably benign	0.00
R6101:Thbs4	UTSW	13	92,911,993 (GRCm39)	missense	possibly damaging	0.90
R6105:Thbs4	UTSW	13	92,911,993 (GRCm39)	missense	possibly damaging	0.90
R6227:Thbs4	UTSW	13	92,911,190 (GRCm39)	missense	probably null	1.00
R6249:Thbs4	UTSW	13	92,911,215 (GRCm39)	missense	probably damaging	1.00
R6651:Thbs4	UTSW	13	92,893,044 (GRCm39)	missense	probably benign	0.06
R6735:Thbs4	UTSW	13	92,891,674 (GRCm39)	missense	possibly damaging	0.71
R6885:Thbs4	UTSW	13	92,899,377 (GRCm39)	missense	probably damaging	0.96
R6913:Thbs4	UTSW	13	92,894,444 (GRCm39)	missense	possibly damaging	0.94
R7409:Thbs4	UTSW	13	92,909,767 (GRCm39)	nonsense	probably null
R7480:Thbs4	UTSW	13	92,903,729 (GRCm39)	missense	probably benign	0.00
R7682:Thbs4	UTSW	13	92,912,070 (GRCm39)	missense	probably benign	0.21
R8022:Thbs4	UTSW	13	92,888,955 (GRCm39)	missense	probably damaging	1.00
R8213:Thbs4	UTSW	13	92,897,094 (GRCm39)	critical splice acceptor site	probably null
R8353:Thbs4	UTSW	13	92,927,325 (GRCm39)	missense	probably benign	0.04
R8445:Thbs4	UTSW	13	92,927,349 (GRCm39)	missense	probably benign	0.00
R8453:Thbs4	UTSW	13	92,927,325 (GRCm39)	missense	probably benign	0.04
R8520:Thbs4	UTSW	13	92,890,792 (GRCm39)	nonsense	probably null
R8560:Thbs4	UTSW	13	92,891,608 (GRCm39)	missense	probably damaging	0.97
R8774:Thbs4	UTSW	13	92,898,030 (GRCm39)	missense	probably damaging	1.00
R8774-TAIL:Thbs4	UTSW	13	92,898,030 (GRCm39)	missense	probably damaging	1.00
R9061:Thbs4	UTSW	13	92,911,187 (GRCm39)	critical splice donor site	probably null
R9223:Thbs4	UTSW	13	92,897,998 (GRCm39)	missense	probably damaging	1.00
R9653:Thbs4	UTSW	13	92,898,022 (GRCm39)	missense	probably benign
R9691:Thbs4	UTSW	13	92,890,896 (GRCm39)	missense	probably damaging	1.00
R9778:Thbs4	UTSW	13	92,913,495 (GRCm39)	missense	probably benign	0.17
Z1177:Thbs4	UTSW	13	92,890,884 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGGGCTTCTTGGTCCACAG -3'
(R):5'- CCTCTGGAAGTTCTGCACAAG -3'

Sequencing Primer
(F):5'- CTTCTTGGTCCACAGTGGCAAG -3'
(R):5'- CTCTGGAAGTTCTGCACAAGAGTTG -3'

Posted On

2020-07-13