Mutagenetix > Incidental Mutation

Incidental Mutation 'R6314:Thsd7a'

509933

Institutional Source

Beutler Lab

Gene Symbol

Thsd7a

Ensembl Gene

ENSMUSG00000032625

Gene Name

thrombospondin, type I, domain containing 7A

Synonyms

LOC330267

MMRRC Submission

044471-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6314 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12311607-12749252 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12554996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 296 (N296S)

Ref Sequence

ENSEMBL: ENSMUSP00000131662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119581] [ENSMUST00000172356]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119443

SMART Domains

Protein: ENSMUSP00000113780
Gene: ENSMUSG00000032625

Domain	Start	End	E-Value	Type
TSP1	14	70	9.98e-5	SMART
TSP1	77	161	3.14e0	SMART
TSP1	166	225	6.62e-1	SMART
Blast:TSP1	226	262	1e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000119581
AA Change: N296S

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113681
Gene: ENSMUSG00000032625
AA Change: N296S

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
TSP1	49	105	4.88e0	SMART
TSP1	186	236	1.58e-16	SMART
low complexity region	264	278	N/A	INTRINSIC
low complexity region	290	304	N/A	INTRINSIC
TSP1	352	408	9.98e-5	SMART
TSP1	415	499	3.14e0	SMART
TSP1	504	563	6.62e-1	SMART
TSP1	626	684	1.24e-9	SMART
TSP1	687	758	1.48e0	SMART
TSP1	763	820	6.24e-6	SMART
TSP1	898	948	7.31e-2	SMART
TSP1	1027	1082	9.09e-8	SMART
TSP1	1085	1150	5.82e-1	SMART
TSP1	1155	1207	4.24e-2	SMART
TSP1	1210	1271	1e0	SMART
TSP1	1276	1328	3.55e-10	SMART
TSP1	1329	1399	7.5e-2	SMART
TSP1	1404	1462	1.55e-1	SMART
transmembrane domain	1594	1616	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172356
AA Change: N296S

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131662
Gene: ENSMUSG00000032625
AA Change: N296S

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
TSP1	49	105	4.88e0	SMART
TSP1	186	236	1.58e-16	SMART
low complexity region	264	278	N/A	INTRINSIC
low complexity region	290	304	N/A	INTRINSIC
TSP1	352	408	9.98e-5	SMART
TSP1	415	499	3.14e0	SMART
TSP1	504	563	6.62e-1	SMART
TSP1	626	684	1.24e-9	SMART
TSP1	687	758	1.48e0	SMART
TSP1	763	820	6.24e-6	SMART
TSP1	898	948	7.31e-2	SMART
TSP1	1027	1084	1.95e-7	SMART
TSP1	1087	1152	5.82e-1	SMART
TSP1	1157	1209	4.24e-2	SMART
TSP1	1212	1273	1e0	SMART
TSP1	1278	1330	3.55e-10	SMART
TSP1	1331	1401	7.5e-2	SMART
TSP1	1406	1464	1.55e-1	SMART
transmembrane domain	1596	1618	N/A	INTRINSIC

Meta Mutation Damage Score

0.0841

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	A	C	5: 146,441,702 (GRCm39)	E283A	possibly damaging	Het
Aadacl2	A	T	3: 59,924,824 (GRCm39)	R130S	probably damaging	Het
Adam22	A	T	5: 8,177,365 (GRCm39)	C581*	probably null	Het
Adss2	T	A	1: 177,595,334 (GRCm39)	Y402F	probably damaging	Het
Agfg1	A	T	1: 82,836,155 (GRCm39)	Q13H	probably damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Armc8	A	G	9: 99,417,937 (GRCm39)	S74P	probably benign	Het
Atn1	A	T	6: 124,724,013 (GRCm39)		probably benign	Het
Ddx5	T	C	11: 106,679,347 (GRCm39)		probably benign	Het
Depdc1a	T	A	3: 159,204,051 (GRCm39)	H33Q	probably damaging	Het
Dnmt3l	A	T	10: 77,895,521 (GRCm39)	Y58F	probably benign	Het
Efemp1	C	T	11: 28,864,603 (GRCm39)	T219I	probably benign	Het
Enpp2	T	C	15: 54,729,366 (GRCm39)	N436D	probably damaging	Het
Epb41l4a	A	G	18: 34,007,208 (GRCm39)	V261A	probably damaging	Het
Erap1	A	T	13: 74,822,894 (GRCm39)	K802N	probably damaging	Het
Fads2b	T	C	2: 85,332,520 (GRCm39)	N168S	probably benign	Het
Fcrl6	T	A	1: 172,426,186 (GRCm39)		probably null	Het
Fv1	A	T	4: 147,954,156 (GRCm39)		probably null	Het
Gdpd4	T	A	7: 97,623,160 (GRCm39)	M257K	probably damaging	Het
Gorab	T	C	1: 163,224,658 (GRCm39)	S48G	probably damaging	Het
Gxylt2	A	T	6: 100,775,164 (GRCm39)	H361L	probably damaging	Het
Hk1	A	G	10: 62,128,223 (GRCm39)	Y300H	possibly damaging	Het
Hk3	T	C	13: 55,161,393 (GRCm39)	R156G	probably benign	Het
Hook3	T	A	8: 26,578,136 (GRCm39)	M118L	probably benign	Het
Lmnb2	G	A	10: 80,745,804 (GRCm39)	R92C	probably damaging	Het
Lsr	A	G	7: 30,658,024 (GRCm39)	L380P	probably damaging	Het
Mettl16	A	T	11: 74,686,832 (GRCm39)	R204*	probably null	Het
Or5h18	A	T	16: 58,847,820 (GRCm39)	I150K	probably benign	Het
Or7a37	A	G	10: 78,806,179 (GRCm39)	H232R	probably benign	Het
Or7e173	C	A	9: 19,938,958 (GRCm39)	S92I	probably damaging	Het
Orc3	C	A	4: 34,579,797 (GRCm39)	G494C	possibly damaging	Het
Pcare	T	G	17: 72,059,452 (GRCm39)	Q75P	probably benign	Het
Pip5k1a	G	T	3: 94,975,432 (GRCm39)	T346K	probably damaging	Het
Pitx1	A	T	13: 55,974,166 (GRCm39)	S222T	possibly damaging	Het
Pm20d1	T	C	1: 131,743,754 (GRCm39)	V473A	possibly damaging	Het
Pnpla6	C	T	8: 3,571,572 (GRCm39)	L168F	probably benign	Het
Pramel13	T	C	4: 144,121,157 (GRCm39)	D289G	probably damaging	Het
Reln	C	A	5: 22,357,482 (GRCm39)	E195*	probably null	Het
S100a7l2	A	T	3: 90,995,683 (GRCm39)	V73E	possibly damaging	Het
Sec24b	A	T	3: 129,800,894 (GRCm39)		probably null	Het
Selenbp1	A	G	3: 94,844,576 (GRCm39)	N78D	probably damaging	Het
Serpina1d	T	A	12: 103,730,959 (GRCm39)	T340S	probably benign	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Snap29	T	C	16: 17,237,183 (GRCm39)	M98T	probably benign	Het
Son	G	T	16: 91,457,298 (GRCm39)		probably benign	Het
Spef1l	A	C	7: 139,556,402 (GRCm39)	L195R	possibly damaging	Het
Tgfbi	A	T	13: 56,773,976 (GRCm39)	T252S	probably benign	Het
Tmem225	C	G	9: 40,062,016 (GRCm39)	T210S	probably benign	Het
Tmem245	A	T	4: 56,888,592 (GRCm39)	V778D	possibly damaging	Het
Tor4a	T	C	2: 25,084,794 (GRCm39)	R370G	possibly damaging	Het
Tubgcp3	T	C	8: 12,698,625 (GRCm39)	H442R	probably benign	Het
Vmn1r20	A	T	6: 57,409,042 (GRCm39)	M123L	probably benign	Het
Zfp622	T	C	15: 25,987,067 (GRCm39)	V273A	probably benign	Het
Zhx1	C	T	15: 57,917,398 (GRCm39)	V283I	probably benign	Het

Other mutations in Thsd7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Thsd7a	APN	6	12,379,658 (GRCm39)	splice site	probably null
IGL00563:Thsd7a	APN	6	12,379,658 (GRCm39)	splice site	probably null
IGL00753:Thsd7a	APN	6	12,327,528 (GRCm39)	missense	probably damaging	1.00
IGL00835:Thsd7a	APN	6	12,554,933 (GRCm39)	missense	probably damaging	1.00
IGL01486:Thsd7a	APN	6	12,471,079 (GRCm39)	missense	probably damaging	1.00
IGL01730:Thsd7a	APN	6	12,554,980 (GRCm39)	missense	probably benign	0.05
IGL01931:Thsd7a	APN	6	12,504,098 (GRCm39)	missense	probably damaging	1.00
IGL01935:Thsd7a	APN	6	12,317,418 (GRCm39)	missense	probably damaging	1.00
IGL01978:Thsd7a	APN	6	12,331,005 (GRCm39)	missense	probably benign	0.01
IGL02233:Thsd7a	APN	6	12,555,257 (GRCm39)	missense	probably benign	0.00
IGL02354:Thsd7a	APN	6	12,348,192 (GRCm39)	splice site	probably benign
IGL02361:Thsd7a	APN	6	12,348,192 (GRCm39)	splice site	probably benign
IGL02375:Thsd7a	APN	6	12,343,264 (GRCm39)	missense	probably damaging	1.00
IGL02468:Thsd7a	APN	6	12,318,170 (GRCm39)	missense	probably damaging	0.98
IGL02616:Thsd7a	APN	6	12,408,984 (GRCm39)	missense	probably damaging	0.98
IGL02820:Thsd7a	APN	6	12,321,071 (GRCm39)	missense	probably damaging	1.00
IGL02858:Thsd7a	APN	6	12,500,994 (GRCm39)	missense	probably benign	0.16
IGL03074:Thsd7a	APN	6	12,324,680 (GRCm39)	missense	probably damaging	0.99
IGL03234:Thsd7a	APN	6	12,343,177 (GRCm39)	missense	probably damaging	1.00
IGL03244:Thsd7a	APN	6	12,504,167 (GRCm39)	splice site	probably benign
IGL03337:Thsd7a	APN	6	12,405,173 (GRCm39)	missense	probably damaging	1.00
G1patch:Thsd7a	UTSW	6	12,555,630 (GRCm39)	missense	possibly damaging	0.87
PIT4354001:Thsd7a	UTSW	6	12,331,926 (GRCm39)	critical splice donor site	probably null
R0095:Thsd7a	UTSW	6	12,320,969 (GRCm39)	missense	probably damaging	0.99
R0127:Thsd7a	UTSW	6	12,554,907 (GRCm39)	missense	probably benign	0.01
R0142:Thsd7a	UTSW	6	12,418,334 (GRCm39)	missense	probably damaging	1.00
R0226:Thsd7a	UTSW	6	12,321,899 (GRCm39)	missense	possibly damaging	0.94
R0242:Thsd7a	UTSW	6	12,503,915 (GRCm39)	missense	probably benign	0.32
R0242:Thsd7a	UTSW	6	12,503,915 (GRCm39)	missense	probably benign	0.32
R0359:Thsd7a	UTSW	6	12,352,030 (GRCm39)	missense	probably damaging	1.00
R0365:Thsd7a	UTSW	6	12,321,886 (GRCm39)	critical splice donor site	probably null
R0504:Thsd7a	UTSW	6	12,379,593 (GRCm39)	missense	probably damaging	0.99
R0512:Thsd7a	UTSW	6	12,379,604 (GRCm39)	missense	possibly damaging	0.67
R0540:Thsd7a	UTSW	6	12,331,541 (GRCm39)	splice site	probably null
R0577:Thsd7a	UTSW	6	12,321,047 (GRCm39)	missense	possibly damaging	0.50
R0607:Thsd7a	UTSW	6	12,331,541 (GRCm39)	splice site	probably null
R0755:Thsd7a	UTSW	6	12,555,368 (GRCm39)	missense	probably damaging	1.00
R0771:Thsd7a	UTSW	6	12,327,576 (GRCm39)	missense	probably benign	0.09
R0780:Thsd7a	UTSW	6	12,337,273 (GRCm39)	missense	probably damaging	1.00
R0870:Thsd7a	UTSW	6	12,337,273 (GRCm39)	missense	probably damaging	1.00
R0871:Thsd7a	UTSW	6	12,337,273 (GRCm39)	missense	probably damaging	1.00
R0872:Thsd7a	UTSW	6	12,337,273 (GRCm39)	missense	probably damaging	1.00
R0873:Thsd7a	UTSW	6	12,337,273 (GRCm39)	missense	probably damaging	1.00
R1102:Thsd7a	UTSW	6	12,555,701 (GRCm39)	missense	possibly damaging	0.58
R1144:Thsd7a	UTSW	6	12,471,026 (GRCm39)	splice site	probably benign
R1265:Thsd7a	UTSW	6	12,317,418 (GRCm39)	missense	probably damaging	0.99
R1276:Thsd7a	UTSW	6	12,418,369 (GRCm39)	missense	probably damaging	1.00
R1381:Thsd7a	UTSW	6	12,555,438 (GRCm39)	missense	probably damaging	1.00
R1473:Thsd7a	UTSW	6	12,338,621 (GRCm39)	missense	probably benign	0.08
R1519:Thsd7a	UTSW	6	12,471,174 (GRCm39)	missense	probably benign	0.01
R1633:Thsd7a	UTSW	6	12,471,103 (GRCm39)	nonsense	probably null
R1659:Thsd7a	UTSW	6	12,504,063 (GRCm39)	missense	possibly damaging	0.73
R1769:Thsd7a	UTSW	6	12,555,714 (GRCm39)	nonsense	probably null
R1824:Thsd7a	UTSW	6	12,409,041 (GRCm39)	splice site	probably null
R1840:Thsd7a	UTSW	6	12,330,973 (GRCm39)	missense	probably benign	0.03
R1845:Thsd7a	UTSW	6	12,321,040 (GRCm39)	missense	probably damaging	1.00
R1874:Thsd7a	UTSW	6	12,555,434 (GRCm39)	missense	possibly damaging	0.76
R2023:Thsd7a	UTSW	6	12,327,535 (GRCm39)	missense	probably benign	0.16
R2039:Thsd7a	UTSW	6	12,408,922 (GRCm39)	missense	possibly damaging	0.77
R2058:Thsd7a	UTSW	6	12,318,105 (GRCm39)	splice site	probably benign
R2138:Thsd7a	UTSW	6	12,471,072 (GRCm39)	nonsense	probably null
R2155:Thsd7a	UTSW	6	12,379,632 (GRCm39)	missense	probably damaging	1.00
R2175:Thsd7a	UTSW	6	12,331,943 (GRCm39)	missense	possibly damaging	0.95
R2216:Thsd7a	UTSW	6	12,337,267 (GRCm39)	missense	possibly damaging	0.95
R2318:Thsd7a	UTSW	6	12,405,146 (GRCm39)	missense	probably damaging	1.00
R2375:Thsd7a	UTSW	6	12,337,361 (GRCm39)	missense	probably damaging	1.00
R3857:Thsd7a	UTSW	6	12,555,225 (GRCm39)	missense	probably benign	0.15
R3858:Thsd7a	UTSW	6	12,555,225 (GRCm39)	missense	probably benign	0.15
R3890:Thsd7a	UTSW	6	12,418,336 (GRCm39)	missense	probably benign	0.09
R3910:Thsd7a	UTSW	6	12,331,548 (GRCm39)	missense	probably damaging	0.96
R3933:Thsd7a	UTSW	6	12,555,225 (GRCm39)	missense	probably benign	0.15
R4369:Thsd7a	UTSW	6	12,468,907 (GRCm39)	missense	probably damaging	1.00
R4447:Thsd7a	UTSW	6	12,324,634 (GRCm39)	missense	probably damaging	0.98
R4664:Thsd7a	UTSW	6	12,504,012 (GRCm39)	missense	possibly damaging	0.90
R4664:Thsd7a	UTSW	6	12,337,313 (GRCm39)	missense	possibly damaging	0.79
R4665:Thsd7a	UTSW	6	12,504,012 (GRCm39)	missense	possibly damaging	0.90
R4665:Thsd7a	UTSW	6	12,337,313 (GRCm39)	missense	possibly damaging	0.79
R4666:Thsd7a	UTSW	6	12,504,012 (GRCm39)	missense	possibly damaging	0.90
R4666:Thsd7a	UTSW	6	12,337,313 (GRCm39)	missense	possibly damaging	0.79
R4668:Thsd7a	UTSW	6	12,408,967 (GRCm39)	missense	probably damaging	0.98
R4886:Thsd7a	UTSW	6	12,327,659 (GRCm39)	nonsense	probably null
R4918:Thsd7a	UTSW	6	12,327,558 (GRCm39)	missense	probably damaging	1.00
R4938:Thsd7a	UTSW	6	12,330,991 (GRCm39)	missense	probably benign	0.09
R5064:Thsd7a	UTSW	6	12,330,951 (GRCm39)	missense	possibly damaging	0.66
R5153:Thsd7a	UTSW	6	12,338,654 (GRCm39)	missense	probably benign	0.00
R5177:Thsd7a	UTSW	6	12,379,582 (GRCm39)	nonsense	probably null
R5242:Thsd7a	UTSW	6	12,327,582 (GRCm39)	missense	probably damaging	1.00
R5267:Thsd7a	UTSW	6	12,379,601 (GRCm39)	missense	probably damaging	1.00
R5442:Thsd7a	UTSW	6	12,748,799 (GRCm39)	missense	probably benign	0.00
R5506:Thsd7a	UTSW	6	12,332,016 (GRCm39)	missense	possibly damaging	0.85
R5525:Thsd7a	UTSW	6	12,332,006 (GRCm39)	missense	possibly damaging	0.52
R5544:Thsd7a	UTSW	6	12,379,470 (GRCm39)	missense	possibly damaging	0.94
R5651:Thsd7a	UTSW	6	12,343,212 (GRCm39)	missense	probably damaging	1.00
R5716:Thsd7a	UTSW	6	12,343,147 (GRCm39)	missense	probably benign	0.00
R5848:Thsd7a	UTSW	6	12,503,922 (GRCm39)	missense	probably damaging	1.00
R5958:Thsd7a	UTSW	6	12,337,261 (GRCm39)	missense	probably benign	0.02
R6012:Thsd7a	UTSW	6	12,379,388 (GRCm39)	splice site	probably null
R6139:Thsd7a	UTSW	6	12,379,572 (GRCm39)	missense	possibly damaging	0.93
R6243:Thsd7a	UTSW	6	12,327,601 (GRCm39)	missense	probably damaging	1.00
R6257:Thsd7a	UTSW	6	12,408,987 (GRCm39)	nonsense	probably null
R6273:Thsd7a	UTSW	6	12,408,835 (GRCm39)	missense	probably damaging	0.99
R6300:Thsd7a	UTSW	6	12,471,103 (GRCm39)	nonsense	probably null
R6392:Thsd7a	UTSW	6	12,468,928 (GRCm39)	missense	probably damaging	0.99
R6418:Thsd7a	UTSW	6	12,555,081 (GRCm39)	nonsense	probably null
R6515:Thsd7a	UTSW	6	12,501,085 (GRCm39)	missense	possibly damaging	0.47
R6725:Thsd7a	UTSW	6	12,555,630 (GRCm39)	missense	possibly damaging	0.87
R6742:Thsd7a	UTSW	6	12,408,815 (GRCm39)	missense	probably damaging	1.00
R6776:Thsd7a	UTSW	6	12,555,636 (GRCm39)	missense	possibly damaging	0.53
R6838:Thsd7a	UTSW	6	12,504,074 (GRCm39)	missense	probably damaging	0.99
R7104:Thsd7a	UTSW	6	12,379,429 (GRCm39)	missense
R7170:Thsd7a	UTSW	6	12,352,090 (GRCm39)	missense
R7349:Thsd7a	UTSW	6	12,352,067 (GRCm39)	missense
R7460:Thsd7a	UTSW	6	12,554,933 (GRCm39)	missense
R7467:Thsd7a	UTSW	6	12,331,584 (GRCm39)	missense
R7666:Thsd7a	UTSW	6	12,379,437 (GRCm39)	missense
R7869:Thsd7a	UTSW	6	12,471,123 (GRCm39)	nonsense	probably null
R8032:Thsd7a	UTSW	6	12,555,287 (GRCm39)	missense
R8165:Thsd7a	UTSW	6	12,468,962 (GRCm39)	missense
R8167:Thsd7a	UTSW	6	12,317,400 (GRCm39)	nonsense	probably null
R8245:Thsd7a	UTSW	6	12,379,592 (GRCm39)	missense
R8310:Thsd7a	UTSW	6	12,396,612 (GRCm39)	missense
R8312:Thsd7a	UTSW	6	12,471,181 (GRCm39)	missense
R8331:Thsd7a	UTSW	6	12,471,157 (GRCm39)	missense
R8755:Thsd7a	UTSW	6	12,408,851 (GRCm39)	nonsense	probably null
R8843:Thsd7a	UTSW	6	12,501,136 (GRCm39)	missense
R8867:Thsd7a	UTSW	6	12,338,686 (GRCm39)	missense
R8952:Thsd7a	UTSW	6	12,468,992 (GRCm39)	missense	probably damaging	0.98
R9036:Thsd7a	UTSW	6	12,418,249 (GRCm39)	missense
R9299:Thsd7a	UTSW	6	12,504,131 (GRCm39)	missense
R9366:Thsd7a	UTSW	6	12,555,480 (GRCm39)	missense
R9489:Thsd7a	UTSW	6	12,352,022 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- ATAAGCCTTGCACTAGGGAATATC -3'
(R):5'- TTCAGGTGTGCCAGTCCAAC -3'

Sequencing Primer
(F):5'- CTTTCACAAGGTTATACCAGGAGTC -3'
(R):5'- AACCCCTGCGAGGAGGATG -3'

Posted On

2018-04-02