Mutagenetix > Incidental Mutation

Incidental Mutation 'R0504:Thbs4'

47388

Institutional Source

Beutler Lab

Gene Symbol

Thbs4

Ensembl Gene

ENSMUSG00000021702

Gene Name

thrombospondin 4

Synonyms

TSP4, TSP-4

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

92888098-92931326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 92903692 bp (GRCm39)

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: 103,128,057 (GRCm39)		probably benign	Het
Adamts6	T	C	13: 104,563,438 (GRCm39)		probably benign	Het
Adamts9	T	A	6: 92,889,626 (GRCm39)	Y316F	probably damaging	Het
Agl	A	T	3: 116,580,433 (GRCm39)	F374I	probably damaging	Het
Akr1c19	A	G	13: 4,286,250 (GRCm39)	T83A	possibly damaging	Het
Ankrd36	T	A	11: 5,579,274 (GRCm39)	S179R	probably damaging	Het
Appbp2	A	G	11: 85,082,513 (GRCm39)	S573P	probably benign	Het
Arid4a	T	A	12: 71,093,988 (GRCm39)	F254I	probably damaging	Het
Bin3	T	C	14: 70,361,336 (GRCm39)		probably null	Het
Bmi1	T	C	2: 18,688,883 (GRCm39)		probably null	Het
Bmper	G	T	9: 23,317,983 (GRCm39)	C534F	probably damaging	Het
Bora	T	A	14: 99,299,059 (GRCm39)	C205*	probably null	Het
Btnl2	A	G	17: 34,577,091 (GRCm39)	E82G	probably benign	Het
Ccdc8	A	T	7: 16,729,939 (GRCm39)	D476V	unknown	Het
Ccr3	C	A	9: 123,829,478 (GRCm39)	T271K	possibly damaging	Het
Cd276	A	G	9: 58,447,961 (GRCm39)	L23P	possibly damaging	Het
Cd3e	T	C	9: 44,913,552 (GRCm39)	Q61R	probably benign	Het
Cep97	A	G	16: 55,726,142 (GRCm39)	S582P	probably benign	Het
Chml	A	T	1: 175,514,748 (GRCm39)	M391K	probably damaging	Het
Chst1	A	G	2: 92,444,169 (GRCm39)	N214D	probably benign	Het
Chuk	T	C	19: 44,070,377 (GRCm39)		probably benign	Het
Col12a1	G	A	9: 79,588,750 (GRCm39)	H1122Y	possibly damaging	Het
Cpne6	A	G	14: 55,752,059 (GRCm39)	K272R	probably damaging	Het
Cpsf2	T	A	12: 101,956,262 (GRCm39)	L355Q	probably damaging	Het
Cyp2c29	T	A	19: 39,298,224 (GRCm39)	D256E	probably benign	Het
Daglb	G	A	5: 143,479,952 (GRCm39)	V420I	probably benign	Het
Ddx42	G	T	11: 106,138,675 (GRCm39)	G825C	probably benign	Het
Dis3	T	C	14: 99,318,826 (GRCm39)		probably benign	Het
Dkk4	C	T	8: 23,115,359 (GRCm39)	R70C	probably damaging	Het
Dock6	G	T	9: 21,713,732 (GRCm39)	Q1933K	probably damaging	Het
Dpep2	T	G	8: 106,716,620 (GRCm39)	Q186H	probably benign	Het
Dzip3	A	C	16: 48,780,006 (GRCm39)		probably benign	Het
Egflam	T	A	15: 7,252,239 (GRCm39)	I853F	probably damaging	Het
Fastkd5	A	G	2: 130,457,837 (GRCm39)	I251T	probably benign	Het
Fbn2	T	A	18: 58,172,532 (GRCm39)	D2091V	possibly damaging	Het
Fem1al	T	C	11: 29,774,990 (GRCm39)	I156V	probably damaging	Het
Fer1l4	C	A	2: 155,894,115 (GRCm39)	V63L	probably benign	Het
Frem1	T	A	4: 82,830,874 (GRCm39)	D2062V	probably benign	Het
Galnt6	A	C	15: 100,594,538 (GRCm39)		probably benign	Het
Get3	A	C	8: 85,745,236 (GRCm39)	V277G	probably damaging	Het
Gm10972	A	T	3: 94,550,440 (GRCm39)		probably benign	Het
Gm4846	G	A	1: 166,319,114 (GRCm39)	T208I	probably benign	Het
Gorab	A	G	1: 163,214,174 (GRCm39)	L252P	probably damaging	Het
Gtsf2	A	G	15: 103,352,988 (GRCm39)	C63R	probably damaging	Het
Hal	T	C	10: 93,325,036 (GRCm39)	V15A	probably damaging	Het
Hmcn1	A	T	1: 150,752,170 (GRCm39)		probably benign	Het
Hormad2	A	T	11: 4,358,833 (GRCm39)	H191Q	possibly damaging	Het
Hspa2	A	T	12: 76,451,990 (GRCm39)	D228V	probably damaging	Het
Igfn1	A	T	1: 135,896,267 (GRCm39)	M1433K	probably benign	Het
Il18	A	G	9: 50,486,628 (GRCm39)	D19G	probably damaging	Het
Il1rl2	G	A	1: 40,368,216 (GRCm39)	V129I	probably benign	Het
Inpp5b	C	A	4: 124,676,201 (GRCm39)	Y352*	probably null	Het
Insrr	A	T	3: 87,720,463 (GRCm39)	M1034L	possibly damaging	Het
Jmjd1c	T	C	10: 67,061,534 (GRCm39)	S1296P	probably damaging	Het
Kdm5b	G	T	1: 134,548,761 (GRCm39)		probably null	Het
Krba1	C	T	6: 48,393,188 (GRCm39)	T998I	probably benign	Het
L3mbtl4	A	G	17: 69,084,907 (GRCm39)	N606S	probably benign	Het
Lonrf1	T	A	8: 36,698,313 (GRCm39)	N395I	possibly damaging	Het
Lpp	A	G	16: 24,790,720 (GRCm39)	D393G	probably damaging	Het
Lrrc17	A	G	5: 21,765,528 (GRCm39)	I3M	probably benign	Het
Lrrtm4	A	T	6: 79,999,029 (GRCm39)	Q147L	probably damaging	Het
Map1a	A	G	2: 121,133,422 (GRCm39)	M1413V	probably benign	Het
Mapk8ip2	A	G	15: 89,340,861 (GRCm39)	E102G	possibly damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mdn1	T	C	4: 32,698,916 (GRCm39)		probably benign	Het
Mfng	A	C	15: 78,641,514 (GRCm39)	H294Q	probably benign	Het
Mical2	T	A	7: 111,870,524 (GRCm39)	N4K	probably benign	Het
Mov10l1	T	A	15: 88,883,042 (GRCm39)	V384E	probably damaging	Het
Myo18b	A	G	5: 113,021,442 (GRCm39)		probably benign	Het
Nlrp1b	T	G	11: 71,073,241 (GRCm39)	I201L	probably damaging	Het
Nos2	C	T	11: 78,830,903 (GRCm39)	P249L	probably damaging	Het
Notch4	A	G	17: 34,794,065 (GRCm39)	T681A	probably damaging	Het
Nr1i3	C	T	1: 171,044,805 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,899,333 (GRCm39)		probably null	Het
Onecut2	A	T	18: 64,473,820 (GRCm39)	I124F	possibly damaging	Het
Or10a49	C	T	7: 108,468,057 (GRCm39)	M101I	possibly damaging	Het
Or2a14	A	T	6: 43,130,395 (GRCm39)	H52L	probably benign	Het
Or2ag1	T	A	7: 106,313,908 (GRCm39)		probably benign	Het
Or2f2	C	T	6: 42,767,530 (GRCm39)	R186*	probably null	Het
Or2t47	C	A	11: 58,442,462 (GRCm39)	C201F	probably damaging	Het
Or4a75	A	T	2: 89,448,438 (GRCm39)	Y33N	probably damaging	Het
Or4c123	C	T	2: 89,127,083 (GRCm39)	C177Y	probably damaging	Het
Or52u1	C	T	7: 104,237,682 (GRCm39)	R224*	probably null	Het
Or5m12	T	A	2: 85,735,030 (GRCm39)	M123L	possibly damaging	Het
Or8b35	A	G	9: 37,904,438 (GRCm39)	T217A	probably benign	Het
Otol1	G	A	3: 69,934,937 (GRCm39)	G310R	probably damaging	Het
Oxct2b	T	A	4: 123,010,633 (GRCm39)	S184R	possibly damaging	Het
Oxct2b	ACTG	A	4: 123,010,705 (GRCm39)		probably benign	Het
P2rx6	A	G	16: 17,385,291 (GRCm39)		probably benign	Het
Pde4a	A	G	9: 21,115,699 (GRCm39)	N411S	probably damaging	Het
Phkb	A	T	8: 86,783,153 (GRCm39)	D983V	probably benign	Het
Piezo2	G	A	18: 63,157,522 (GRCm39)	T2396I	probably damaging	Het
Pik3ap1	T	A	19: 41,275,929 (GRCm39)	D717V	probably damaging	Het
Plce1	T	A	19: 38,766,465 (GRCm39)		probably benign	Het
Plekhg1	A	G	10: 3,887,853 (GRCm39)	I261V	probably damaging	Het
Ppfia4	T	C	1: 134,251,851 (GRCm39)	H441R	probably damaging	Het
Prpf8	T	A	11: 75,392,768 (GRCm39)		probably benign	Het
Ptn	T	A	6: 36,718,388 (GRCm39)		probably benign	Het
Ptpn13	A	G	5: 103,649,362 (GRCm39)	Y255C	possibly damaging	Het
Ptpn4	A	G	1: 119,693,645 (GRCm39)	Y126H	probably damaging	Het
Ptprc	T	C	1: 138,016,435 (GRCm39)	N505D	probably damaging	Het
Ptprs	T	A	17: 56,761,220 (GRCm39)	I116F	possibly damaging	Het
Rab1a	T	G	11: 20,173,169 (GRCm39)	V90G	probably damaging	Het
Rcor1	T	C	12: 111,068,102 (GRCm39)	V267A	probably benign	Het
Reep4	A	G	14: 70,784,678 (GRCm39)		probably null	Het
Rere	T	A	4: 150,699,779 (GRCm39)		probably benign	Het
Rin3	T	A	12: 102,353,823 (GRCm39)	Y743*	probably null	Het
Rprm	A	G	2: 53,975,067 (GRCm39)	S84P	probably damaging	Het
Sdhaf2	C	T	19: 10,494,383 (GRCm39)	E109K	probably damaging	Het
Sec31b	G	T	19: 44,523,225 (GRCm39)	Q24K	probably damaging	Het
Sema5a	T	C	15: 32,574,949 (GRCm39)		probably benign	Het
Sh3pxd2a	T	C	19: 47,256,186 (GRCm39)	Y844C	probably damaging	Het
Shmt2	A	C	10: 127,355,941 (GRCm39)	N134K	probably damaging	Het
Slc9a8	C	T	2: 167,266,125 (GRCm39)	A34V	probably benign	Het
Spidr	A	C	16: 15,957,936 (GRCm39)	S64A	possibly damaging	Het
Stk10	A	G	11: 32,567,882 (GRCm39)	T895A	probably benign	Het
Syne2	A	T	12: 76,080,365 (GRCm39)		probably benign	Het
Szt2	T	C	4: 118,230,149 (GRCm39)		probably null	Het
Tecpr1	A	T	5: 144,150,899 (GRCm39)	V303D	probably damaging	Het
Tet3	A	G	6: 83,350,776 (GRCm39)	Y1048H	probably damaging	Het
Tfb2m	A	G	1: 179,373,396 (GRCm39)	C101R	probably damaging	Het
Tg	T	C	15: 66,554,253 (GRCm39)	V556A	probably damaging	Het
Thsd7a	A	T	6: 12,379,593 (GRCm39)	Y944N	probably damaging	Het
Tm9sf3	C	A	19: 41,236,331 (GRCm39)		probably benign	Het
Tmem145	T	C	7: 25,010,787 (GRCm39)	F359S	probably damaging	Het
Ttc21b	C	T	2: 66,053,142 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,579,880 (GRCm39)	V23671A	probably damaging	Het
Txnl4b	T	C	8: 110,298,103 (GRCm39)	I78T	probably benign	Het
Ubr4	C	A	4: 139,133,889 (GRCm39)	L762I	probably damaging	Het
Ubr4	T	C	4: 139,208,149 (GRCm39)		probably null	Het
Ugt1a8	C	T	1: 88,016,079 (GRCm39)	P164L	probably damaging	Het
Unc13b	T	C	4: 43,263,559 (GRCm39)	S1594P	probably damaging	Het
Utrn	A	T	10: 12,278,639 (GRCm39)	F912I	probably benign	Het
Vat1l	T	C	8: 114,963,319 (GRCm39)		probably benign	Het
Vmn1r50	T	A	6: 90,084,863 (GRCm39)	S203T	probably damaging	Het
Vmn2r4	A	T	3: 64,296,784 (GRCm39)	L667Q	probably damaging	Het
Vmn2r66	T	G	7: 84,656,023 (GRCm39)	Q331P	probably damaging	Het
Wdsub1	A	T	2: 59,708,669 (GRCm39)	V68D	possibly damaging	Het
Wnk2	C	G	13: 49,238,870 (GRCm39)	A564P	possibly damaging	Het
Wnk2	T	A	13: 49,238,872 (GRCm39)	K563M	probably damaging	Het
Zan	T	A	5: 137,468,580 (GRCm39)	H297L	probably damaging	Het
Zfp426	A	T	9: 20,381,327 (GRCm39)	H539Q	probably damaging	Het
Zfp488	T	A	14: 33,692,497 (GRCm39)	N222I	probably damaging	Het
Zfp536	T	A	7: 37,268,243 (GRCm39)	H391L	probably damaging	Het
Zp1	T	A	19: 10,893,571 (GRCm39)	N31I	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
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
R1834:Thbs4	UTSW	13	92,897,989 (GRCm39)	missense	probably benign	0.00
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'- ACCAGCCACTTTGAGACCTGAATG -3'
(R):5'- ACCAGTGATCTTTGCTCGATTCTGC -3'

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

Posted On

2013-06-12