Mutagenetix > Incidental Mutation

Incidental Mutation 'R8560:Thbs4'

661008

Institutional Source

Beutler Lab

Gene Symbol

Thbs4

Ensembl Gene

ENSMUSG00000021702

Gene Name

thrombospondin 4

Synonyms

TSP-4, TSP4

MMRRC Submission

068523-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8560 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92751590-92794818 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92755100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 836 (I836V)

Ref Sequence

ENSEMBL: ENSMUSP00000022213 (fasta)

Gene Model

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

AlphaFold

Q9Z1T2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022213
AA Change: I836V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022213
Gene: ENSMUSG00000021702
AA Change: I836V

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,981,392	V819A	unknown	Het
Ahi1	T	C	10: 20,959,915	V49A	probably benign	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,042,160		probably benign	Het
BC017643	G	T	11: 121,224,215	A154D	probably damaging	Het
Ccdc87	C	T	19: 4,841,873	R798W	probably damaging	Het
Cd163	T	C	6: 124,317,401	L506S	possibly damaging	Het
Chsy3	T	C	18: 59,410,058	V756A	possibly damaging	Het
Cisd3	G	T	11: 97,685,863	W5L	possibly damaging	Het
Coro1c	A	T	5: 113,846,188	H339Q	probably damaging	Het
D630045J12Rik	T	A	6: 38,149,714	I1454F	probably damaging	Het
Dab2ip	T	C	2: 35,713,132	S448P	probably damaging	Het
Dennd5a	A	G	7: 109,934,691		probably null	Het
Depdc1a	A	G	3: 159,514,275	K139E	probably damaging	Het
Dock6	T	C	9: 21,802,836	K1874R	probably benign	Het
Dst	A	G	1: 34,268,889	H4229R	probably damaging	Het
Esyt3	T	C	9: 99,320,322	D512G	probably damaging	Het
Fastkd5	T	A	2: 130,615,945	I242L	probably benign	Het
Foxo3	G	A	10: 42,275,282	T51M	possibly damaging	Het
Gcfc2	T	C	6: 81,923,882	V59A	possibly damaging	Het
Gm14410	C	A	2: 177,193,652	C273F	probably damaging	Het
Gucy1b1	G	T	3: 82,035,378	P486T	probably damaging	Het
Hydin	A	G	8: 110,538,474	N2763S	probably benign	Het
Ifna2	C	A	4: 88,683,265	W172L	possibly damaging	Het
Igkv6-29	T	C	6: 70,138,667	N48D	probably benign	Het
Il17ra	C	A	6: 120,482,265	D792E	possibly damaging	Het
Kcnh5	G	T	12: 74,976,605	A563E	probably damaging	Het
Klra4	C	A	6: 130,065,272	V11L	probably benign	Het
Krt13	T	C	11: 100,118,850	E368G	possibly damaging	Het
Lrpprc	T	A	17: 84,740,067		probably benign	Het
Mal2	T	C	15: 54,598,430	I107T	probably benign	Het
Mc4r	T	C	18: 66,859,095	I316V	possibly damaging	Het
Mdn1	T	A	4: 32,743,830	V4022E	probably benign	Het
Med12l	A	G	3: 59,037,605	N84D	probably damaging	Het
Mx1	T	G	16: 97,452,787	T298P	probably damaging	Het
Myh7	T	C	14: 54,975,948	E1367G	possibly damaging	Het
Myh7b	A	G	2: 155,623,204	E660G	possibly damaging	Het
Nbeal1	T	A	1: 60,235,157	N242K	probably benign	Het
Nsun5	A	G	5: 135,375,889	T435A	probably benign	Het
Olfr115	C	T	17: 37,610,058	S231N	possibly damaging	Het
Olfr1463	T	C	19: 13,234,292	L14P	possibly damaging	Het
Olfr735	T	A	14: 50,346,337	D4V	probably benign	Het
Pcdhb17	C	T	18: 37,486,153	T332M	possibly damaging	Het
Pi4k2a	C	T	19: 42,100,712	Q171*	probably null	Het
Plb1	T	C	5: 32,302,679	V421A	possibly damaging	Het
Prkag2	TTTTTTTTTTTTA	T	5: 24,866,065		probably benign	Het
Prlhr	A	G	19: 60,468,197		probably benign	Het
Prpf8	T	A	11: 75,491,774	C435*	probably null	Het
Rnf183	T	A	4: 62,428,498	N21I	probably damaging	Het
Rnf41	T	A	10: 128,438,353	C291*	probably null	Het
Shd	T	C	17: 55,971,616	S60P	probably benign	Het
Slc16a5	A	G	11: 115,469,719	T243A	probably benign	Het
Slc33a1	A	T	3: 63,943,352	I517N	possibly damaging	Het
Slc4a1	A	C	11: 102,353,257	M682R	possibly damaging	Het
Sphk2	A	T	7: 45,712,090	N245K	probably damaging	Het
Stx7	T	C	10: 24,181,556	I160T	possibly damaging	Het
Tmc5	A	T	7: 118,669,291	N861Y	probably damaging	Het
Trappc5	T	A	8: 3,679,303	W94R	probably damaging	Het
Trmt44	T	C	5: 35,557,951	I673V	probably benign	Het
Ttn	T	C	2: 76,741,271	Y26426C	probably damaging	Het
Wdr81	C	T	11: 75,445,434	G591R		Het
Zfp236	G	A	18: 82,646,215	R482W	probably damaging	Het
Zfp51	T	A	17: 21,465,373	M750K	probably benign	Het

Other mutations in Thbs4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01680:Thbs4	APN	13	92776980	missense	probably benign	0.04
IGL02318:Thbs4	APN	13	92763584	missense	probably damaging	1.00
IGL02887:Thbs4	APN	13	92790798	missense	probably benign	0.00
IGL03205:Thbs4	APN	13	92762774	missense	probably damaging	1.00
IGL03382:Thbs4	APN	13	92769548	missense	probably benign	0.37
R0087:Thbs4	UTSW	13	92755235	missense	probably damaging	0.99
R0128:Thbs4	UTSW	13	92754410	missense	probably benign	0.00
R0130:Thbs4	UTSW	13	92754410	missense	probably benign	0.00
R0276:Thbs4	UTSW	13	92775532	missense	probably benign	0.00
R0423:Thbs4	UTSW	13	92756571	missense	probably damaging	0.99
R0504:Thbs4	UTSW	13	92767184	missense	probably benign	0.04
R0708:Thbs4	UTSW	13	92773186	missense	probably damaging	1.00
R0836:Thbs4	UTSW	13	92758038	missense	probably damaging	1.00
R1078:Thbs4	UTSW	13	92762926	splice site	probably benign
R1139:Thbs4	UTSW	13	92774718	missense	probably damaging	1.00
R1253:Thbs4	UTSW	13	92776905	missense	probably benign	0.17
R1342:Thbs4	UTSW	13	92752417	missense	probably damaging	1.00
R1416:Thbs4	UTSW	13	92761533	missense	probably benign
R1834:Thbs4	UTSW	13	92761481	missense	probably benign	0.00
R1950:Thbs4	UTSW	13	92769571	missense	probably damaging	0.99
R2056:Thbs4	UTSW	13	92790879	missense	probably benign	0.00
R2184:Thbs4	UTSW	13	92774794	missense	probably benign
R2198:Thbs4	UTSW	13	92763271	missense	possibly damaging	0.78
R2859:Thbs4	UTSW	13	92790708	missense	probably benign	0.02
R3605:Thbs4	UTSW	13	92757959	nonsense	probably null
R3783:Thbs4	UTSW	13	92773164	missense	probably benign	0.09
R3784:Thbs4	UTSW	13	92773164	missense	probably benign	0.09
R3786:Thbs4	UTSW	13	92773164	missense	probably benign	0.09
R3787:Thbs4	UTSW	13	92773164	missense	probably benign	0.09
R4061:Thbs4	UTSW	13	92776097	critical splice donor site	probably null
R4790:Thbs4	UTSW	13	92762806	missense	probably damaging	1.00
R4968:Thbs4	UTSW	13	92758068	missense	possibly damaging	0.55
R4983:Thbs4	UTSW	13	92790699	missense	probably benign	0.29
R5185:Thbs4	UTSW	13	92775167	missense	probably damaging	0.97
R5352:Thbs4	UTSW	13	92763590	missense	probably damaging	1.00
R5361:Thbs4	UTSW	13	92776993	missense	probably benign
R5589:Thbs4	UTSW	13	92776074	splice site	probably null
R5700:Thbs4	UTSW	13	92776953	missense	probably benign	0.00
R6061:Thbs4	UTSW	13	92751795	missense	probably benign	0.00
R6101:Thbs4	UTSW	13	92775485	missense	possibly damaging	0.90
R6105:Thbs4	UTSW	13	92775485	missense	possibly damaging	0.90
R6227:Thbs4	UTSW	13	92774682	missense	probably null	1.00
R6249:Thbs4	UTSW	13	92774707	missense	probably damaging	1.00
R6651:Thbs4	UTSW	13	92756536	missense	probably benign	0.06
R6735:Thbs4	UTSW	13	92755166	missense	possibly damaging	0.71
R6885:Thbs4	UTSW	13	92762869	missense	probably damaging	0.96
R6913:Thbs4	UTSW	13	92757936	missense	possibly damaging	0.94
R7409:Thbs4	UTSW	13	92773259	nonsense	probably null
R7480:Thbs4	UTSW	13	92767221	missense	probably benign	0.00
R7682:Thbs4	UTSW	13	92775562	missense	probably benign	0.21
R8022:Thbs4	UTSW	13	92752447	missense	probably damaging	1.00
R8213:Thbs4	UTSW	13	92760586	critical splice acceptor site	probably null
R8231:Thbs4	UTSW	13	92774844	missense	probably benign
R8353:Thbs4	UTSW	13	92790817	missense	probably benign	0.04
R8445:Thbs4	UTSW	13	92790841	missense	probably benign	0.00
R8453:Thbs4	UTSW	13	92790817	missense	probably benign	0.04
R8520:Thbs4	UTSW	13	92754284	nonsense	probably null
R8774:Thbs4	UTSW	13	92761522	missense	probably damaging	1.00
R8774-TAIL:Thbs4	UTSW	13	92761522	missense	probably damaging	1.00
R9061:Thbs4	UTSW	13	92774679	critical splice donor site	probably null
R9223:Thbs4	UTSW	13	92761490	missense	probably damaging	1.00
R9653:Thbs4	UTSW	13	92761514	missense	probably benign
R9691:Thbs4	UTSW	13	92754388	missense	probably damaging	1.00
R9778:Thbs4	UTSW	13	92776987	missense	probably benign	0.17
Z1177:Thbs4	UTSW	13	92754376	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATAGGTTGAAAGGTGCAGGCTC -3'
(R):5'- GCATTTCCTCTCCACAGGGTAC -3'

Sequencing Primer
(F):5'- TGCAGGCTCAACAGAAGGC -3'
(R):5'- CACAGGGTACACGGCATTTAACG -3'

Posted On

2021-03-08