Mutagenetix > Incidental Mutation

Incidental Mutation 'R0708:Thbs4'

63867

Institutional Source

Beutler Lab

Gene Symbol

Thbs4

Ensembl Gene

ENSMUSG00000021702

Gene Name

thrombospondin 4

Synonyms

TSP4, TSP-4

MMRRC Submission

038891-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0708 (G1)

Quality Score

113

Status

Not validated

Chromosome

Chromosomal Location

92888098-92931326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 92909694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 368 (G368W)

Ref Sequence

ENSEMBL: ENSMUSP00000022213 (fasta)

Gene Model

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

AlphaFold

Q9Z1T2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022213
AA Change: G368W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022213
Gene: ENSMUSG00000021702
AA Change: G368W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168299

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.3%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brdt	A	T	5: 107,506,766 (GRCm39)	K450*	probably null	Het
Cand2	G	A	6: 115,780,766 (GRCm39)	E1217K	probably damaging	Het
Col9a1	A	T	1: 24,276,342 (GRCm39)	Q750L	possibly damaging	Het
Dnah6	A	T	6: 73,189,605 (GRCm39)	S14R	probably benign	Het
Enox1	A	G	14: 77,830,352 (GRCm39)	N319S	probably benign	Het
Frs2	G	A	10: 116,909,997 (GRCm39)	T455M	probably damaging	Het
Glra3	C	T	8: 56,578,399 (GRCm39)		probably benign	Het
Gmppa	T	C	1: 75,419,218 (GRCm39)	F375S	probably damaging	Het
Hectd4	G	A	5: 121,424,526 (GRCm39)		probably null	Het
Hgf	C	A	5: 16,771,761 (GRCm39)	C129*	probably null	Het
Insc	T	A	7: 114,444,381 (GRCm39)	V456E	probably damaging	Het
Ints14	G	A	9: 64,891,266 (GRCm39)	V416I	probably benign	Het
Klk1b11	T	C	7: 43,647,152 (GRCm39)	F29L	possibly damaging	Het
Ogfod1	C	T	8: 94,765,673 (GRCm39)	L79F	possibly damaging	Het
Or8d2b	T	A	9: 38,788,571 (GRCm39)	V33E	probably damaging	Het
Orc3	A	T	4: 34,597,368 (GRCm39)	I224N	probably damaging	Het
Papss2	T	C	19: 32,614,616 (GRCm39)	F111L	probably damaging	Het
Poc1b	A	G	10: 98,990,992 (GRCm39)	D291G	probably null	Het
Prl8a8	A	T	13: 27,695,528 (GRCm39)	M72K	possibly damaging	Het
Ptpn7	C	A	1: 135,062,285 (GRCm39)	T77K	probably damaging	Het
Ptpro	T	C	6: 137,363,251 (GRCm39)	S462P	probably benign	Het
Rab3gap2	T	A	1: 184,982,123 (GRCm39)	S392T	probably damaging	Het
Sema4d	A	G	13: 51,866,755 (GRCm39)	V245A	probably benign	Het
Sgcb	A	T	5: 73,798,225 (GRCm39)		probably null	Het
Slc24a1	T	A	9: 64,855,172 (GRCm39)	K578N	unknown	Het
Sptbn1	A	T	11: 30,064,739 (GRCm39)	V1920E	probably damaging	Het
Tecr	A	T	8: 84,299,738 (GRCm39)	I101N	probably damaging	Het
Tectb	T	C	19: 55,179,984 (GRCm39)	F277L	probably benign	Het
Tgs1	T	A	4: 3,586,152 (GRCm39)	L343H	probably benign	Het
Zfp558	T	C	9: 18,368,123 (GRCm39)	S222G	possibly 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
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
R8231:Thbs4	UTSW	13	92,911,352 (GRCm39)	missense	probably benign
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'- TGGCTCACCATGCACCACAATATTC -3'
(R):5'- AACATGCTGGGGAGCTTGCTATAC -3'

Sequencing Primer
(F):5'- TATTCCACAAGGCACCGGC -3'
(R):5'- CTTGCTATACCTGGATGGAGAC -3'

Posted On

2013-07-30