Mutagenetix > Incidental Mutation

Incidental Mutation 'R1834:Thbs4'

205095

Institutional Source

Beutler Lab

Gene Symbol

Thbs4

Ensembl Gene

ENSMUSG00000021702

Gene Name

thrombospondin 4

Synonyms

TSP-4, TSP4

MMRRC Submission

039861-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1834 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92751590-92794818 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92761481 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 610 (V610A)

Ref Sequence

ENSEMBL: ENSMUSP00000022213 (fasta)

Gene Model

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

AlphaFold

Q9Z1T2

Predicted Effect

probably benign
Transcript: ENSMUST00000022213
AA Change: V610A

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

SMART Domains

Protein: ENSMUSP00000022213
Gene: ENSMUSG00000021702
AA Change: V610A

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

Meta Mutation Damage Score

0.2785

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

97% (116/119)

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,208,487	D20G	probably damaging	Het
2310061N02Rik	T	A	16: 88,707,898	S4C	unknown	Het
4933416C03Rik	T	C	10: 116,112,665	R319G	probably benign	Het
Abca3	A	T	17: 24,376,692	N340Y	probably benign	Het
Abcc1	A	G	16: 14,423,117	I513V	possibly damaging	Het
Acacb	C	T	5: 114,235,475	T1855M	probably damaging	Het
Ace	A	G	11: 105,986,094		probably benign	Het
Acss2	T	A	2: 155,558,630	Y530N	probably damaging	Het
Adarb1	C	A	10: 77,317,231		probably benign	Het
Afm	T	A	5: 90,526,424	M265K	probably benign	Het
Agl	A	G	3: 116,788,351	F293S	probably benign	Het
Aox2	G	A	1: 58,308,991	A623T	probably benign	Het
Arhgap31	C	A	16: 38,603,703	S667I	probably benign	Het
Bco1	A	G	8: 117,117,437	T297A	probably benign	Het
Bmp1	T	C	14: 70,508,831	S123G	possibly damaging	Het
Caps2	G	A	10: 112,195,718	D283N	possibly damaging	Het
Ccdc57	A	C	11: 120,861,219	S845R	probably benign	Het
Cd209f	A	G	8: 4,104,491	S119P	probably damaging	Het
Chrna6	A	G	8: 27,407,214	S212P	probably benign	Het
Col10a1	G	C	10: 34,395,015	A328P	probably damaging	Het
Col4a2	A	G	8: 11,402,997	E188G	probably benign	Het
Creb1	C	T	1: 64,550,950	Q32*	probably null	Het
Cttnbp2	C	T	6: 18,501,966	V16M	probably damaging	Het
D430041D05Rik	A	G	2: 104,168,101	S1102P	probably damaging	Het
Ddx31	C	T	2: 28,892,453	H603Y	probably damaging	Het
Ddx52	G	A	11: 83,959,497	C568Y	probably benign	Het
Dgki	C	A	6: 37,034,701		probably benign	Het
Dmrt1	A	T	19: 25,509,699	Q123L	probably damaging	Het
Dnah5	A	T	15: 28,409,124	M3563L	probably benign	Het
Dnah7b	A	T	1: 46,233,759	N2349I	possibly damaging	Het
Dscaml1	T	G	9: 45,683,632	S678A	probably benign	Het
Ece1	C	T	4: 137,958,001	R601W	probably damaging	Het
Ece1	A	G	4: 137,958,128	N643S	probably damaging	Het
Eno1b	A	G	18: 48,047,463	Y236C	probably damaging	Het
Esco1	T	C	18: 10,594,350	E312G	probably damaging	Het
Eya3	T	A	4: 132,707,118	V276E	probably damaging	Het
Fam161b	A	G	12: 84,348,778		probably benign	Het
Fem1c	C	T	18: 46,505,282	G551D	probably damaging	Het
Fer1l6	T	C	15: 58,557,869	I155T	possibly damaging	Het
Gbp7	A	G	3: 142,534,680	Y53C	probably damaging	Het
Gjb3	G	A	4: 127,326,431	R103W	probably damaging	Het
Gm10030	C	T	9: 111,004,879		noncoding transcript	Het
Gm1966	A	T	7: 106,603,776	V87D	possibly damaging	Het
Gm3443	T	A	19: 21,555,679	H2Q	unknown	Het
Gm5800	T	C	14: 51,716,092	E22G	possibly damaging	Het
Gsdma2	G	T	11: 98,649,079	R9L	probably damaging	Het
Ica1l	A	G	1: 60,028,236		probably benign	Het
Ice1	G	A	13: 70,615,338	T167I	probably damaging	Het
Ifi204	T	A	1: 173,747,606	R618S	unknown	Het
Itga2	C	A	13: 114,856,726	K784N	probably damaging	Het
Itga2	T	A	13: 114,856,727	K784M	probably damaging	Het
Kif3b	A	G	2: 153,317,485	E402G	probably benign	Het
Lrp2	T	C	2: 69,466,880	I3246V	probably benign	Het
Lrrn3	G	T	12: 41,453,518	L267I	probably damaging	Het
Map1s	A	G	8: 70,916,411	Y868C	probably damaging	Het
Mcm5	A	G	8: 75,119,273	T370A	possibly damaging	Het
Nat8f7	T	C	6: 85,707,811	S16G	probably benign	Het
Nav3	T	C	10: 109,720,022	T1683A	probably damaging	Het
Nbeal2	T	C	9: 110,627,129	N2417S	probably damaging	Het
Neb	T	C	2: 52,236,895	N3605S	probably damaging	Het
Net1	A	T	13: 3,912,941		probably benign	Het
Nsd1	A	G	13: 55,313,351	T2464A	possibly damaging	Het
Nt5e	T	A	9: 88,370,187	I534N	probably damaging	Het
Nudt12	T	A	17: 59,011,076	H58L	probably damaging	Het
Ocrl	T	A	X: 47,962,116	I74N	probably damaging	Het
Olfr291	A	G	7: 84,856,482	T38A	probably damaging	Het
Olfr403	A	G	11: 74,195,653	H50R	probably benign	Het
Olfr695	A	G	7: 106,874,141	Y35H	probably damaging	Het
Olfr826	A	G	10: 130,180,832	I16T	probably benign	Het
Pef1	C	A	4: 130,121,173	C10*	probably null	Het
Phf21b	A	G	15: 84,797,346	Y256H	probably damaging	Het
Phox2a	G	T	7: 101,820,945		probably null	Het
Pi16	A	G	17: 29,327,445	E399G	possibly damaging	Het
Pipox	A	T	11: 77,882,123	Y321N	probably damaging	Het
Plin4	A	G	17: 56,103,522	S1170P	probably damaging	Het
Pnma2	C	T	14: 66,917,213	S362L	possibly damaging	Het
Ppp1r9a	T	C	6: 5,113,710	I738T	probably damaging	Het
Prkcsh	A	T	9: 22,008,338	K188M	probably damaging	Het
Rcc1l	A	T	5: 134,163,659	Y309N	probably damaging	Het
Ripk1	A	G	13: 34,015,213	T123A	probably benign	Het
Robo4	A	G	9: 37,413,059	D961G	probably benign	Het
Rps27a	A	G	11: 29,546,299	Y105H	probably benign	Het
Scaper	A	G	9: 55,816,734	Y641H	possibly damaging	Het
Scn1a	C	A	2: 66,324,616	Q666H	probably benign	Het
Scn1a	T	A	2: 66,324,617	Q666L	probably benign	Het
Sdhaf4	T	C	1: 24,003,153		probably null	Het
Sec14l3	A	G	11: 4,066,510		probably benign	Het
Selp	C	A	1: 164,128,160		probably null	Het
Sim1	A	G	10: 50,909,828	D259G	probably damaging	Het
Sptan1	T	A	2: 29,992,001		probably benign	Het
Sptbn4	T	A	7: 27,366,646	E679V	probably null	Het
Sytl3	G	A	17: 6,728,327	E169K	probably benign	Het
Taar1	T	C	10: 23,921,189	C262R	probably benign	Het
Tbc1d32	A	G	10: 56,017,604	I1291T	probably benign	Het
Tcrg-C3	A	G	13: 19,263,365	T163A	possibly damaging	Het
Tet1	G	A	10: 62,813,665	P89S	probably damaging	Het
Tgfbrap1	C	A	1: 43,071,635	G7W	probably damaging	Het
Thada	A	G	17: 84,226,004	V1673A	possibly damaging	Het
Tmem163	A	G	1: 127,677,509	S41P	probably benign	Het
Tmem65	A	T	15: 58,787,113	H200Q	probably damaging	Het
Trim62	T	C	4: 128,909,225	V356A	possibly damaging	Het
Ttn	T	C	2: 76,732,158	D28781G	probably damaging	Het
Ttn	C	T	2: 76,763,260	V20679I	probably benign	Het
Unc80	A	T	1: 66,639,248	T2063S	possibly damaging	Het
Vav3	A	G	3: 109,506,426	T227A	probably benign	Het
Vmn2r118	A	T	17: 55,592,456	I816N	probably damaging	Het
Vmn2r26	T	A	6: 124,061,410	M648K	possibly damaging	Het
Vmn2r88	T	G	14: 51,413,030		probably benign	Het
Vwa3a	A	G	7: 120,790,136	T66A	probably benign	Het
Xirp2	T	A	2: 67,511,140	Y1242N	probably damaging	Het
Ywhag	G	A	5: 135,911,530	T70M	probably damaging	Het
Zcchc6	A	T	13: 59,814,935	Y339*	probably null	Het
Zfp248	T	C	6: 118,428,970	T452A	probably damaging	Het
Zfp988	A	T	4: 147,332,887	I593F	probably damaging	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
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
R8560:Thbs4	UTSW	13	92755100	missense	probably damaging	0.97
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'- GGAGTCCCCATCCTGATTCATC -3'
(R):5'- GCAGCTGCAAGTCTCTGTTTC -3'

Sequencing Primer
(F):5'- GTCAGTAACTATCTCGACTGGAC -3'
(R):5'- AGCTGCAAGTCTCTGTTTCCTACC -3'

Posted On

2014-06-23