Mutagenetix > Incidental Mutation

Incidental Mutation 'R1139:Thbs4'

95402

Institutional Source

Beutler Lab

Gene Symbol

Thbs4

Ensembl Gene

ENSMUSG00000021702

Gene Name

thrombospondin 4

Synonyms

TSP4, TSP-4

MMRRC Submission

039212-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1139 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92888098-92931326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92911226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 319 (Y319C)

Ref Sequence

ENSEMBL: ENSMUSP00000022213 (fasta)

Gene Model

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

AlphaFold

Q9Z1T2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022213
AA Change: Y319C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022213
Gene: ENSMUSG00000021702
AA Change: Y319C

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	G	A	11: 58,179,112 (GRCm39)	V149M	probably damaging	Het
Abcc4	A	G	14: 118,738,252 (GRCm39)	M1166T	possibly damaging	Het
Adgra3	A	T	5: 50,119,097 (GRCm39)		probably null	Het
Alox12b	A	T	11: 69,055,231 (GRCm39)	Q334L	probably damaging	Het
Bltp3a	T	C	17: 28,109,045 (GRCm39)	F1088S	possibly damaging	Het
Bod1l	A	T	5: 41,988,814 (GRCm39)	M431K	possibly damaging	Het
Ckap5	A	G	2: 91,411,488 (GRCm39)	N966D	probably benign	Het
Csmd3	C	G	15: 47,559,232 (GRCm39)	D2240H	probably damaging	Het
Erbin	A	G	13: 104,020,761 (GRCm39)	F66S	probably damaging	Het
Mrgprh	A	T	17: 13,095,829 (GRCm39)	N23I	probably benign	Het
Mst1r	G	T	9: 107,797,168 (GRCm39)	D1346Y	possibly damaging	Het
Nfe2l2	A	G	2: 75,507,230 (GRCm39)	M290T	probably benign	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Or52n20	A	G	7: 104,320,098 (GRCm39)	Y63C	probably damaging	Het
Or56a3b	A	G	7: 104,771,180 (GRCm39)	Y172C	probably damaging	Het
Or9k7	T	C	10: 130,046,948 (GRCm39)	H17R	possibly damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Rpgrip1	A	C	14: 52,384,678 (GRCm39)	E757D	probably benign	Het
Scn9a	T	G	2: 66,335,341 (GRCm39)	K1207T	probably benign	Het
Spata31e2	T	G	1: 26,721,746 (GRCm39)	I1145L	probably benign	Het
Ssb	A	G	2: 69,696,920 (GRCm39)	T87A	possibly damaging	Het
Tfdp1	C	T	8: 13,423,000 (GRCm39)	R302C	probably benign	Het
Tiam2	C	A	17: 3,527,542 (GRCm39)	Q67K	possibly damaging	Het
Tox3	A	G	8: 90,975,497 (GRCm39)	L378P	probably damaging	Het
Vcpip1	A	T	1: 9,816,948 (GRCm39)	H478Q	probably damaging	Het
Vmn2r124	T	C	17: 18,294,052 (GRCm39)	I713T	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
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
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'- CCAGGGACATCATTAAGGACGCAG -3'
(R):5'- GGGGCAAATTCATTGGGAAACCAC -3'

Sequencing Primer
(F):5'- CATTAAGGACGCAGTTCTCTG -3'
(R):5'- GGGAAACCACATTTCACTTTGTATCC -3'

Posted On

2014-01-05