Mutagenetix > Incidental Mutation

Incidental Mutation 'R9653:Thbs4'

727222

Institutional Source

Beutler Lab

Gene Symbol

Thbs4

Ensembl Gene

ENSMUSG00000021702

Gene Name

thrombospondin 4

Synonyms

TSP-4, TSP4

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9653 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92751590-92794818 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92761514 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 599 (D599G)

Ref Sequence

ENSEMBL: ENSMUSP00000022213 (fasta)

Gene Model

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

AlphaFold

Q9Z1T2

Predicted Effect

probably benign
Transcript: ENSMUST00000022213
AA Change: D599G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022213
Gene: ENSMUSG00000021702
AA Change: D599G

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: 99.7%
20x: 99.2%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,293,741	P1868L	probably benign	Het
Abcc1	T	C	16: 14,396,393	Y191H	probably damaging	Het
Adamtsl5	C	T	10: 80,344,929	G100R	probably damaging	Het
Adgrg5	C	T	8: 94,937,236	P235S		Het
Anks1b	T	G	10: 90,510,662	L608R	probably damaging	Het
Ano10	C	G	9: 122,251,155	A597P	possibly damaging	Het
Calb2	T	C	8: 110,154,742	M58V	probably benign	Het
Ccdc180	T	C	4: 45,923,495	I1092T	probably damaging	Het
Ces3b	G	T	8: 105,085,625	A169S	probably damaging	Het
Chmp2a	A	T	7: 13,032,529	F129I	probably damaging	Het
Clasp2	T	A	9: 113,841,925	W365R	probably benign	Het
Col12a1	T	C	9: 79,677,274	K1344R	probably benign	Het
Col3a1	A	G	1: 45,321,568	I53V	unknown	Het
Coro2b	T	C	9: 62,427,977	Y309C	probably damaging	Het
Cramp1l	C	A	17: 24,982,809	K566N	probably damaging	Het
Crygs	T	A	16: 22,806,554	T46S	probably benign	Het
Ctbp2	C	G	7: 133,014,204	R334P	probably damaging	Het
Dcstamp	A	T	15: 39,760,396	D469V	probably benign	Het
Dhdh	T	C	7: 45,479,127	D209G	probably damaging	Het
Dnah7b	T	C	1: 46,213,384	V1742A	possibly damaging	Het
Dnaja2	T	C	8: 85,539,353	T368A	probably benign	Het
Dscaml1	T	C	9: 45,732,168		probably null	Het
Eps8l1	A	T	7: 4,478,887	K704M	unknown	Het
Fam159b	A	G	13: 104,863,788		probably benign	Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Fgd4	T	A	16: 16,436,597	H524L	probably benign	Het
Fktn	T	A	4: 53,731,273	F103I	probably benign	Het
Gcc2	T	C	10: 58,275,000	M1001T	possibly damaging	Het
Gm4847	T	C	1: 166,640,013	S205G	possibly damaging	Het
Grid2	A	T	6: 63,930,984	N203Y	possibly damaging	Het
Hif3a	G	A	7: 17,048,716	A308V	probably damaging	Het
Htr5a	A	G	5: 27,842,840	N131S	possibly damaging	Het
Igfn1	G	A	1: 135,955,585	Q2728*	probably null	Het
Ighv5-16	C	A	12: 113,838,693	K62N	possibly damaging	Het
Ip6k3	A	T	17: 27,148,614	Y203N	possibly damaging	Het
Itga2	G	A	13: 114,884,455	P120L	probably benign	Het
Itpkb	G	T	1: 180,332,491	E61*	probably null	Het
Kcnj3	G	A	2: 55,594,852	V321M	probably damaging	Het
Kmt2c	A	G	5: 25,302,821	L3206P	probably damaging	Het
Krtap5-4	T	C	7: 142,304,171	C193R	unknown	Het
Large1	G	T	8: 72,837,478	H553Q	probably benign	Het
Lrfn5	T	A	12: 61,843,632	V569D	probably damaging	Het
Luzp2	A	G	7: 55,052,832	T48A	probably damaging	Het
Lypd6	A	T	2: 50,190,746	T149S	probably benign	Het
Map3k1	T	C	13: 111,753,762	N1301S	possibly damaging	Het
Ndufv2	C	T	17: 66,089,256	W91*	probably null	Het
Nisch	A	T	14: 31,171,671	V1315E	probably damaging	Het
Npas1	T	C	7: 16,456,221	I467V	probably benign	Het
Nucb1	A	G	7: 45,494,778	M337T	probably benign	Het
Olfr1315-ps1	A	T	2: 112,110,916	M112K	probably damaging	Het
Olfr610	C	T	7: 103,506,520	R142H	probably benign	Het
Olfr682-ps1	A	T	7: 105,126,778	N164K	probably benign	Het
Olfr960	T	C	9: 39,623,858	L243P	probably damaging	Het
Oog3	T	G	4: 144,157,919	R482S	probably benign	Het
Padi2	T	C	4: 140,934,725		probably null	Het
Pam	C	T	1: 97,840,744	V660M	possibly damaging	Het
Phc2	C	T	4: 128,747,219	L700F	probably damaging	Het
Plekha1	T	C	7: 130,877,764	V4A	possibly damaging	Het
Rai1	A	G	11: 60,189,316	E1402G	probably benign	Het
Recql5	G	A	11: 115,897,206	A429V	probably benign	Het
Rere	A	G	4: 150,431,553	N101S	probably benign	Het
Robo1	T	G	16: 73,024,442	S1357A	possibly damaging	Het
Rsl1	T	A	13: 67,182,042	Y185N	probably damaging	Het
Rsph3a	T	C	17: 7,946,242	S145P	possibly damaging	Het
Sall1	T	C	8: 89,030,878	E866G	probably damaging	Het
Sall3	A	T	18: 80,973,013	S567T	probably benign	Het
Sap30	G	A	8: 57,485,122	Q154*	probably null	Het
Sbf2	T	C	7: 110,441,495	Q375R	possibly damaging	Het
Scn8a	A	G	15: 101,040,066	E1772G	probably damaging	Het
Scube3	C	T	17: 28,156,798	A169V	probably damaging	Het
Sema6c	T	C	3: 95,173,214	S940P	probably benign	Het
Sertad4	C	T	1: 192,846,528	D327N	probably damaging	Het
Skp1a	A	G	11: 52,243,687	T82A	possibly damaging	Het
Slc39a14	G	T	14: 70,309,799	T366K	probably damaging	Het
Snrnp200	G	T	2: 127,226,039	V819L	probably damaging	Het
Sntg1	T	A	1: 8,363,525	T501S	unknown	Het
Srsf12	T	C	4: 33,231,249	S253P	possibly damaging	Het
Sycp2l	A	G	13: 41,141,905	S315G	probably benign	Het
Tars2	T	C	3: 95,748,067	Y337C	probably damaging	Het
Tmem200c	A	G	17: 68,842,186	H588R	probably benign	Het
Tmem255b	T	A	8: 13,456,005	V204E	probably damaging	Het
Usp24	T	A	4: 106,347,367	M261K	probably benign	Het
Utrn	T	A	10: 12,621,379	I2429F	probably benign	Het
Utrn	C	T	10: 12,663,445	A1943T	probably benign	Het
Vmn2r85	A	T	10: 130,425,825	D214E	probably damaging	Het
Wdr81	G	T	11: 75,449,387	P183T		Het
Zfp28	G	A	7: 6,392,624	R134H		Het
Zfp532	T	A	18: 65,623,237	D80E	possibly damaging	Het
Zfyve26	T	C	12: 79,287,644	D200G	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
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
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'- TGACCTCATGCATGTCATTGC -3'
(R):5'- CCTATTTTGAGGTCACCTTCAGG -3'

Sequencing Primer
(F):5'- TGCTCCACAATAGCAAGGAG -3'
(R):5'- CCTTCAGGTACTACTAGAGATGGTG -3'

Posted On

2022-10-06