Mutagenetix > Incidental Mutation

Incidental Mutation 'R0504:Thbs4'

47388

Institutional Source

Beutler Lab

Gene Symbol

Thbs4

Ensembl Gene

ENSMUSG00000021702

Gene Name

thrombospondin 4

Synonyms

TSP-4, TSP4

MMRRC Submission

038699-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0504 (G1)

Quality Score

122

Status

Validated

Chromosome

Chromosomal Location

92751590-92794818 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 92767184 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 441 (I441M)

Ref Sequence

ENSEMBL: ENSMUSP00000022213 (fasta)

Gene Model

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

AlphaFold

Q9Z1T2

Predicted Effect

probably benign
Transcript: ENSMUST00000022213
AA Change: I441M

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000022213
Gene: ENSMUSG00000021702
AA Change: I441M

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

0.0877

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

99% (145/147)

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: 145 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	A	G	4: 103,270,860		probably benign	Het
4931440F15Rik	T	C	11: 29,824,990	I156V	probably damaging	Het
Adamts6	T	C	13: 104,426,930		probably benign	Het
Adamts9	T	A	6: 92,912,645	Y316F	probably damaging	Het
Agl	A	T	3: 116,786,784	F374I	probably damaging	Het
Akr1c19	A	G	13: 4,236,251	T83A	possibly damaging	Het
Ankrd36	T	A	11: 5,629,274	S179R	probably damaging	Het
Appbp2	A	G	11: 85,191,687	S573P	probably benign	Het
Arid4a	T	A	12: 71,047,214	F254I	probably damaging	Het
Asna1	A	C	8: 85,018,607	V277G	probably damaging	Het
Bin3	T	C	14: 70,123,887		probably null	Het
Bmi1	T	C	2: 18,684,072		probably null	Het
Bmper	G	T	9: 23,406,687	C534F	probably damaging	Het
Bora	T	A	14: 99,061,623	C205*	probably null	Het
Btnl2	A	G	17: 34,358,117	E82G	probably benign	Het
Ccdc8	A	T	7: 16,996,014	D476V	unknown	Het
Ccr3	C	A	9: 124,029,441	T271K	possibly damaging	Het
Cd276	A	G	9: 58,540,678	L23P	possibly damaging	Het
Cd3e	T	C	9: 45,002,254	Q61R	probably benign	Het
Cep97	A	G	16: 55,905,779	S582P	probably benign	Het
Chml	A	T	1: 175,687,182	M391K	probably damaging	Het
Chst1	A	G	2: 92,613,824	N214D	probably benign	Het
Chuk	T	C	19: 44,081,938		probably benign	Het
Col12a1	G	A	9: 79,681,468	H1122Y	possibly damaging	Het
Cpne6	A	G	14: 55,514,602	K272R	probably damaging	Het
Cpsf2	T	A	12: 101,990,003	L355Q	probably damaging	Het
Cyp2c29	T	A	19: 39,309,780	D256E	probably benign	Het
Daglb	G	A	5: 143,494,197	V420I	probably benign	Het
Ddx42	G	T	11: 106,247,849	G825C	probably benign	Het
Dis3	T	C	14: 99,081,390		probably benign	Het
Dkk4	C	T	8: 22,625,343	R70C	probably damaging	Het
Dock6	G	T	9: 21,802,436	Q1933K	probably damaging	Het
Dpep2	T	G	8: 105,989,988	Q186H	probably benign	Het
Dzip3	A	C	16: 48,959,643		probably benign	Het
Egflam	T	A	15: 7,222,758	I853F	probably damaging	Het
Fastkd5	A	G	2: 130,615,917	I251T	probably benign	Het
Fbn2	T	A	18: 58,039,460	D2091V	possibly damaging	Het
Fer1l4	C	A	2: 156,052,195	V63L	probably benign	Het
Frem1	T	A	4: 82,912,637	D2062V	probably benign	Het
Galnt6	A	C	15: 100,696,657		probably benign	Het
Gm10972	A	T	3: 94,643,133		probably benign	Het
Gm4846	G	A	1: 166,491,545	T208I	probably benign	Het
Gorab	A	G	1: 163,386,605	L252P	probably damaging	Het
Gtsf2	A	G	15: 103,444,561	C63R	probably damaging	Het
Hal	T	C	10: 93,489,174	V15A	probably damaging	Het
Hmcn1	A	T	1: 150,876,419		probably benign	Het
Hormad2	A	T	11: 4,408,833	H191Q	possibly damaging	Het
Hspa2	A	T	12: 76,405,216	D228V	probably damaging	Het
Igfn1	A	T	1: 135,968,529	M1433K	probably benign	Het
Il18	A	G	9: 50,575,328	D19G	probably damaging	Het
Il1rl2	G	A	1: 40,329,056	V129I	probably benign	Het
Inpp5b	C	A	4: 124,782,408	Y352*	probably null	Het
Insrr	A	T	3: 87,813,156	M1034L	possibly damaging	Het
Jmjd1c	T	C	10: 67,225,755	S1296P	probably damaging	Het
Kdm5b	G	T	1: 134,621,023		probably null	Het
Krba1	C	T	6: 48,416,254	T998I	probably benign	Het
L3mbtl4	A	G	17: 68,777,912	N606S	probably benign	Het
Lonrf1	T	A	8: 36,231,159	N395I	possibly damaging	Het
Lpp	A	G	16: 24,971,970	D393G	probably damaging	Het
Lrrc17	A	G	5: 21,560,530	I3M	probably benign	Het
Lrrtm4	A	T	6: 80,022,046	Q147L	probably damaging	Het
Map1a	A	G	2: 121,302,941	M1413V	probably benign	Het
Mapk8ip2	A	G	15: 89,456,658	E102G	possibly damaging	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Mdn1	T	C	4: 32,698,916		probably benign	Het
Mfng	A	C	15: 78,757,314	H294Q	probably benign	Het
Mical2	T	A	7: 112,271,317	N4K	probably benign	Het
Mov10l1	T	A	15: 88,998,839	V384E	probably damaging	Het
Myo18b	A	G	5: 112,873,576		probably benign	Het
Nlrp1b	T	G	11: 71,182,415	I201L	probably damaging	Het
Nos2	C	T	11: 78,940,077	P249L	probably damaging	Het
Notch4	A	G	17: 34,575,091	T681A	probably damaging	Het
Nr1i3	C	T	1: 171,217,236		probably benign	Het
Obscn	A	G	11: 59,008,507		probably null	Het
Olfr1024	T	A	2: 85,904,686	M123L	possibly damaging	Het
Olfr1230	C	T	2: 89,296,739	C177Y	probably damaging	Het
Olfr1248	A	T	2: 89,618,094	Y33N	probably damaging	Het
Olfr237-ps1	A	T	6: 43,153,461	H52L	probably benign	Het
Olfr328	C	A	11: 58,551,636	C201F	probably damaging	Het
Olfr452	C	T	6: 42,790,596	R186*	probably null	Het
Olfr517	C	T	7: 108,868,850	M101I	possibly damaging	Het
Olfr654	C	T	7: 104,588,475	R224*	probably null	Het
Olfr705	T	A	7: 106,714,701		probably benign	Het
Olfr881	A	G	9: 37,993,142	T217A	probably benign	Het
Onecut2	A	T	18: 64,340,749	I124F	possibly damaging	Het
Otol1	G	A	3: 70,027,604	G310R	probably damaging	Het
Oxct2b	T	A	4: 123,116,840	S184R	possibly damaging	Het
Oxct2b	ACTG	A	4: 123,116,912		probably benign	Het
P2rx6	A	G	16: 17,567,427		probably benign	Het
Pde4a	A	G	9: 21,204,403	N411S	probably damaging	Het
Phkb	A	T	8: 86,056,524	D983V	probably benign	Het
Piezo2	G	A	18: 63,024,451	T2396I	probably damaging	Het
Pik3ap1	T	A	19: 41,287,490	D717V	probably damaging	Het
Plce1	T	A	19: 38,778,021		probably benign	Het
Plekhg1	A	G	10: 3,937,853	I261V	probably damaging	Het
Ppfia4	T	C	1: 134,324,113	H441R	probably damaging	Het
Prpf8	T	A	11: 75,501,942		probably benign	Het
Ptn	T	A	6: 36,741,453		probably benign	Het
Ptpn13	A	G	5: 103,501,496	Y255C	possibly damaging	Het
Ptpn4	A	G	1: 119,765,915	Y126H	probably damaging	Het
Ptprc	T	C	1: 138,088,697	N505D	probably damaging	Het
Ptprs	T	A	17: 56,454,220	I116F	possibly damaging	Het
Rab1a	T	G	11: 20,223,169	V90G	probably damaging	Het
Rcor1	T	C	12: 111,101,668	V267A	probably benign	Het
Reep4	A	G	14: 70,547,238		probably null	Het
Rere	T	A	4: 150,615,322		probably benign	Het
Rin3	T	A	12: 102,387,564	Y743*	probably null	Het
Rprm	A	G	2: 54,085,055	S84P	probably damaging	Het
Sdhaf2	C	T	19: 10,517,019	E109K	probably damaging	Het
Sec31b	G	T	19: 44,534,786	Q24K	probably damaging	Het
Sema5a	T	C	15: 32,574,803		probably benign	Het
Sh3pxd2a	T	C	19: 47,267,747	Y844C	probably damaging	Het
Shmt2	A	C	10: 127,520,072	N134K	probably damaging	Het
Slc9a8	C	T	2: 167,424,205	A34V	probably benign	Het
Spidr	A	C	16: 16,140,072	S64A	possibly damaging	Het
Stk10	A	G	11: 32,617,882	T895A	probably benign	Het
Syne2	A	T	12: 76,033,591		probably benign	Het
Szt2	T	C	4: 118,372,952		probably null	Het
Tecpr1	A	T	5: 144,214,081	V303D	probably damaging	Het
Tet3	A	G	6: 83,373,794	Y1048H	probably damaging	Het
Tfb2m	A	G	1: 179,545,831	C101R	probably damaging	Het
Tg	T	C	15: 66,682,404	V556A	probably damaging	Het
Thsd7a	A	T	6: 12,379,594	Y944N	probably damaging	Het
Tm9sf3	C	A	19: 41,247,892		probably benign	Het
Tmem145	T	C	7: 25,311,362	F359S	probably damaging	Het
Ttc21b	C	T	2: 66,222,798		probably benign	Het
Ttn	A	G	2: 76,749,536	V23671A	probably damaging	Het
Txnl4b	T	C	8: 109,571,471	I78T	probably benign	Het
Ubr4	C	A	4: 139,406,578	L762I	probably damaging	Het
Ubr4	T	C	4: 139,480,838		probably null	Het
Ugt1a8	C	T	1: 88,088,357	P164L	probably damaging	Het
Unc13b	T	C	4: 43,263,559	S1594P	probably damaging	Het
Utrn	A	T	10: 12,402,895	F912I	probably benign	Het
Vat1l	T	C	8: 114,236,579		probably benign	Het
Vmn1r50	T	A	6: 90,107,881	S203T	probably damaging	Het
Vmn2r4	A	T	3: 64,389,363	L667Q	probably damaging	Het
Vmn2r66	T	G	7: 85,006,815	Q331P	probably damaging	Het
Wdsub1	A	T	2: 59,878,325	V68D	possibly damaging	Het
Wnk2	C	G	13: 49,085,394	A564P	possibly damaging	Het
Wnk2	T	A	13: 49,085,396	K563M	probably damaging	Het
Zan	T	A	5: 137,470,318	H297L	probably damaging	Het
Zfp426	A	T	9: 20,470,031	H539Q	probably damaging	Het
Zfp488	T	A	14: 33,970,540	N222I	probably damaging	Het
Zfp536	T	A	7: 37,568,818	H391L	probably damaging	Het
Zp1	T	A	19: 10,916,207	N31I	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
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
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'- ACCAGCCACTTTGAGACCTGAATG -3'
(R):5'- ACCAGTGATCTTTGCTCGATTCTGC -3'

Sequencing Primer
(F):5'- AGAGATGTGAGAGCCTCCTGTC -3'
(R):5'- GATCTTTGCTCGATTCTGCCTTATC -3'

Posted On

2013-06-12