Mutagenetix > Incidental Mutation

Incidental Mutation 'R1834:Thbs4'

205095

Institutional Source

Beutler Lab

Gene Symbol

Thbs4

Ensembl Gene

ENSMUSG00000021702

Gene Name

thrombospondin 4

Synonyms

TSP4, TSP-4

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

92888098-92931326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92897989 bp (GRCm39)

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: 59,099,313 (GRCm39)	D20G	probably damaging	Het
2310061N02Rik	T	A	16: 88,504,786 (GRCm39)	S4C	unknown	Het
Abca3	A	T	17: 24,595,666 (GRCm39)	N340Y	probably benign	Het
Abcc1	A	G	16: 14,240,981 (GRCm39)	I513V	possibly damaging	Het
Acacb	C	T	5: 114,373,536 (GRCm39)	T1855M	probably damaging	Het
Ace	A	G	11: 105,876,920 (GRCm39)		probably benign	Het
Acss2	T	A	2: 155,400,550 (GRCm39)	Y530N	probably damaging	Het
Adarb1	C	A	10: 77,153,065 (GRCm39)		probably benign	Het
Afm	T	A	5: 90,674,283 (GRCm39)	M265K	probably benign	Het
Agl	A	G	3: 116,582,000 (GRCm39)	F293S	probably benign	Het
Aox1	G	A	1: 58,348,150 (GRCm39)	A623T	probably benign	Het
Arhgap31	C	A	16: 38,424,065 (GRCm39)	S667I	probably benign	Het
Bco1	A	G	8: 117,844,176 (GRCm39)	T297A	probably benign	Het
Bmp1	T	C	14: 70,746,271 (GRCm39)	S123G	possibly damaging	Het
Caps2	G	A	10: 112,031,623 (GRCm39)	D283N	possibly damaging	Het
Ccdc57	A	C	11: 120,752,045 (GRCm39)	S845R	probably benign	Het
Cd209f	A	G	8: 4,154,491 (GRCm39)	S119P	probably damaging	Het
Chrna6	A	G	8: 27,897,242 (GRCm39)	S212P	probably benign	Het
Col10a1	G	C	10: 34,271,011 (GRCm39)	A328P	probably damaging	Het
Col4a2	A	G	8: 11,452,997 (GRCm39)	E188G	probably benign	Het
Creb1	C	T	1: 64,590,109 (GRCm39)	Q32*	probably null	Het
Cttnbp2	C	T	6: 18,501,965 (GRCm39)	V16M	probably damaging	Het
D430041D05Rik	A	G	2: 103,998,446 (GRCm39)	S1102P	probably damaging	Het
Ddx31	C	T	2: 28,782,465 (GRCm39)	H603Y	probably damaging	Het
Ddx52	G	A	11: 83,850,323 (GRCm39)	C568Y	probably benign	Het
Dgki	C	A	6: 37,011,636 (GRCm39)		probably benign	Het
Dmrt1	A	T	19: 25,487,063 (GRCm39)	Q123L	probably damaging	Het
Dnah5	A	T	15: 28,409,270 (GRCm39)	M3563L	probably benign	Het
Dnah7b	A	T	1: 46,272,919 (GRCm39)	N2349I	possibly damaging	Het
Dscaml1	T	G	9: 45,594,930 (GRCm39)	S678A	probably benign	Het
Ece1	C	T	4: 137,685,312 (GRCm39)	R601W	probably damaging	Het
Ece1	A	G	4: 137,685,439 (GRCm39)	N643S	probably damaging	Het
Eno1b	A	G	18: 48,180,530 (GRCm39)	Y236C	probably damaging	Het
Esco1	T	C	18: 10,594,350 (GRCm39)	E312G	probably damaging	Het
Eya3	T	A	4: 132,434,429 (GRCm39)	V276E	probably damaging	Het
Fam161b	A	G	12: 84,395,552 (GRCm39)		probably benign	Het
Fem1c	C	T	18: 46,638,349 (GRCm39)	G551D	probably damaging	Het
Fer1l6	T	C	15: 58,429,718 (GRCm39)	I155T	possibly damaging	Het
Gbp7	A	G	3: 142,240,441 (GRCm39)	Y53C	probably damaging	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Gm10030	C	T	9: 110,833,947 (GRCm39)		noncoding transcript	Het
Gm3443	T	A	19: 21,533,043 (GRCm39)	H2Q	unknown	Het
Gm5800	T	C	14: 51,953,549 (GRCm39)	E22G	possibly damaging	Het
Gsdma2	G	T	11: 98,539,905 (GRCm39)	R9L	probably damaging	Het
Gvin3	A	T	7: 106,202,983 (GRCm39)	V87D	possibly damaging	Het
Ica1l	A	G	1: 60,067,395 (GRCm39)		probably benign	Het
Ice1	G	A	13: 70,763,457 (GRCm39)	T167I	probably damaging	Het
Ifi204	T	A	1: 173,575,172 (GRCm39)	R618S	unknown	Het
Itga2	C	A	13: 114,993,262 (GRCm39)	K784N	probably damaging	Het
Itga2	T	A	13: 114,993,263 (GRCm39)	K784M	probably damaging	Het
Kif3b	A	G	2: 153,159,405 (GRCm39)	E402G	probably benign	Het
Lrp2	T	C	2: 69,297,224 (GRCm39)	I3246V	probably benign	Het
Lrrn3	G	T	12: 41,503,517 (GRCm39)	L267I	probably damaging	Het
Map1s	A	G	8: 71,369,055 (GRCm39)	Y868C	probably damaging	Het
Mcm5	A	G	8: 75,845,901 (GRCm39)	T370A	possibly damaging	Het
Nat8f7	T	C	6: 85,684,793 (GRCm39)	S16G	probably benign	Het
Nav3	T	C	10: 109,555,883 (GRCm39)	T1683A	probably damaging	Het
Nbeal2	T	C	9: 110,456,197 (GRCm39)	N2417S	probably damaging	Het
Neb	T	C	2: 52,126,907 (GRCm39)	N3605S	probably damaging	Het
Net1	A	T	13: 3,962,941 (GRCm39)		probably benign	Het
Nsd1	A	G	13: 55,461,164 (GRCm39)	T2464A	possibly damaging	Het
Nt5e	T	A	9: 88,252,240 (GRCm39)	I534N	probably damaging	Het
Nudt12	T	A	17: 59,318,071 (GRCm39)	H58L	probably damaging	Het
Ocrl	T	A	X: 47,050,993 (GRCm39)	I74N	probably damaging	Het
Or1a1	A	G	11: 74,086,479 (GRCm39)	H50R	probably benign	Het
Or2ag13	A	G	7: 106,473,348 (GRCm39)	Y35H	probably damaging	Het
Or5ae2	A	G	7: 84,505,690 (GRCm39)	T38A	probably damaging	Het
Or9k2b	A	G	10: 130,016,701 (GRCm39)	I16T	probably benign	Het
Pef1	C	A	4: 130,014,966 (GRCm39)	C10*	probably null	Het
Phf21b	A	G	15: 84,681,547 (GRCm39)	Y256H	probably damaging	Het
Phox2a	G	T	7: 101,470,152 (GRCm39)		probably null	Het
Pi16	A	G	17: 29,546,419 (GRCm39)	E399G	possibly damaging	Het
Pipox	A	T	11: 77,772,949 (GRCm39)	Y321N	probably damaging	Het
Plin4	A	G	17: 56,410,522 (GRCm39)	S1170P	probably damaging	Het
Pnma2	C	T	14: 67,154,662 (GRCm39)	S362L	possibly damaging	Het
Ppp1r9a	T	C	6: 5,113,710 (GRCm39)	I738T	probably damaging	Het
Prkcsh	A	T	9: 21,919,634 (GRCm39)	K188M	probably damaging	Het
Rcc1l	A	T	5: 134,192,498 (GRCm39)	Y309N	probably damaging	Het
Ripk1	A	G	13: 34,199,196 (GRCm39)	T123A	probably benign	Het
Robo4	A	G	9: 37,324,355 (GRCm39)	D961G	probably benign	Het
Rps27a	A	G	11: 29,496,299 (GRCm39)	Y105H	probably benign	Het
Scaper	A	G	9: 55,724,018 (GRCm39)	Y641H	possibly damaging	Het
Scn1a	C	A	2: 66,154,960 (GRCm39)	Q666H	probably benign	Het
Scn1a	T	A	2: 66,154,961 (GRCm39)	Q666L	probably benign	Het
Sdhaf4	T	C	1: 24,042,234 (GRCm39)		probably null	Het
Sec14l3	A	G	11: 4,016,510 (GRCm39)		probably benign	Het
Selp	C	A	1: 163,955,729 (GRCm39)		probably null	Het
Sim1	A	G	10: 50,785,924 (GRCm39)	D259G	probably damaging	Het
Sptan1	T	A	2: 29,882,013 (GRCm39)		probably benign	Het
Sptbn4	T	A	7: 27,066,071 (GRCm39)	E679V	probably null	Het
Sytl3	G	A	17: 6,995,726 (GRCm39)	E169K	probably benign	Het
Taar1	T	C	10: 23,797,087 (GRCm39)	C262R	probably benign	Het
Taf7l2	T	C	10: 115,948,570 (GRCm39)	R319G	probably benign	Het
Tbc1d32	A	G	10: 55,893,700 (GRCm39)	I1291T	probably benign	Het
Tet1	G	A	10: 62,649,444 (GRCm39)	P89S	probably damaging	Het
Tgfbrap1	C	A	1: 43,110,795 (GRCm39)	G7W	probably damaging	Het
Thada	A	G	17: 84,533,432 (GRCm39)	V1673A	possibly damaging	Het
Tmem163	A	G	1: 127,605,246 (GRCm39)	S41P	probably benign	Het
Tmem65	A	T	15: 58,658,962 (GRCm39)	H200Q	probably damaging	Het
Trgc3	A	G	13: 19,447,535 (GRCm39)	T163A	possibly damaging	Het
Trim62	T	C	4: 128,803,018 (GRCm39)	V356A	possibly damaging	Het
Ttn	T	C	2: 76,562,502 (GRCm39)	D28781G	probably damaging	Het
Ttn	C	T	2: 76,593,604 (GRCm39)	V20679I	probably benign	Het
Tut7	A	T	13: 59,962,749 (GRCm39)	Y339*	probably null	Het
Unc80	A	T	1: 66,678,407 (GRCm39)	T2063S	possibly damaging	Het
Vav3	A	G	3: 109,413,742 (GRCm39)	T227A	probably benign	Het
Vmn2r118	A	T	17: 55,899,456 (GRCm39)	I816N	probably damaging	Het
Vmn2r26	T	A	6: 124,038,369 (GRCm39)	M648K	possibly damaging	Het
Vmn2r88	T	G	14: 51,650,487 (GRCm39)		probably benign	Het
Vwa3a	A	G	7: 120,389,359 (GRCm39)	T66A	probably benign	Het
Xirp2	T	A	2: 67,341,484 (GRCm39)	Y1242N	probably damaging	Het
Ywhag	G	A	5: 135,940,384 (GRCm39)	T70M	probably damaging	Het
Zfp248	T	C	6: 118,405,931 (GRCm39)	T452A	probably damaging	Het
Zfp988	A	T	4: 147,417,344 (GRCm39)	I593F	probably 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
R1139:Thbs4	UTSW	13	92,911,226 (GRCm39)	missense	probably damaging	1.00
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
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'- GGAGTCCCCATCCTGATTCATC -3'
(R):5'- GCAGCTGCAAGTCTCTGTTTC -3'

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

Posted On

2014-06-23