Mutagenetix > Incidental Mutation

Incidental Mutation 'R4369:Thsd7a'

325889

Institutional Source

Beutler Lab

Gene Symbol

Thsd7a

Ensembl Gene

ENSMUSG00000032625

Gene Name

thrombospondin, type I, domain containing 7A

Synonyms

LOC330267

MMRRC Submission

041116-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4369 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12311607-12749252 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12468907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 557 (C557Y)

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 damaging
Transcript: ENSMUST00000119581
AA Change: C557Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113681
Gene: ENSMUSG00000032625
AA Change: C557Y

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

probably damaging
Transcript: ENSMUST00000172356
AA Change: C557Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131662
Gene: ENSMUSG00000032625
AA Change: C557Y

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

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 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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	A	T	6: 52,156,042 (GRCm39)		probably benign	Het
A730018C14Rik	T	C	12: 112,382,048 (GRCm39)		noncoding transcript	Het
Abcc1	T	G	16: 14,278,857 (GRCm39)	S1056A	possibly damaging	Het
Akr1c19	A	T	13: 4,283,779 (GRCm39)	K4*	probably null	Het
Amph	T	A	13: 19,321,870 (GRCm39)	S516R	probably benign	Het
Apoh	T	C	11: 108,288,205 (GRCm39)	F108L	probably damaging	Het
Arg2	T	C	12: 79,196,746 (GRCm39)	S156P	probably damaging	Het
AU018091	A	T	7: 3,207,815 (GRCm39)	L582*	probably null	Het
Bckdk	C	T	7: 127,505,591 (GRCm39)	A238V	probably benign	Het
Bean1	T	A	8: 104,943,742 (GRCm39)	V275D	probably damaging	Het
Brpf3	C	T	17: 29,055,594 (GRCm39)	A1181V	probably damaging	Het
Cfb	T	C	17: 35,079,290 (GRCm39)	K287R	probably damaging	Het
Cpd	T	C	11: 76,688,537 (GRCm39)	N912D	possibly damaging	Het
Cyp4f14	T	C	17: 33,128,232 (GRCm39)	N261S	probably benign	Het
Dennd3	T	C	15: 73,412,658 (GRCm39)	I440T	probably damaging	Het
Dhx38	C	T	8: 110,279,763 (GRCm39)	V976I	probably damaging	Het
Dpep2	T	G	8: 106,711,707 (GRCm39)	L573F	probably benign	Het
Ebag9	T	C	15: 44,491,865 (GRCm39)	S86P	probably benign	Het
Epha1	T	C	6: 42,342,391 (GRCm39)	Y319C	probably damaging	Het
Eps8l3	T	C	3: 107,798,330 (GRCm39)	Y466H	possibly damaging	Het
Ercc6	A	G	14: 32,239,164 (GRCm39)	E84G	probably damaging	Het
Ffar1	A	G	7: 30,560,033 (GRCm39)	I288T	probably benign	Het
Flnb	C	T	14: 7,942,216 (GRCm38)	T2398I	probably benign	Het
Galnt15	T	C	14: 31,751,496 (GRCm39)	F16S	possibly damaging	Het
Golgb1	A	G	16: 36,737,269 (GRCm39)	E2172G	probably damaging	Het
Lhx4	T	A	1: 155,580,560 (GRCm39)	H161L	probably benign	Het
Lrp1	T	C	10: 127,386,155 (GRCm39)	N3457S	possibly damaging	Het
Map7d1	A	T	4: 126,128,866 (GRCm39)	S436T	probably damaging	Het
Nmral1	T	C	16: 4,532,394 (GRCm39)	Y139C	probably damaging	Het
Noc2l	A	G	4: 156,321,853 (GRCm39)	D84G	possibly damaging	Het
Or2a25	T	A	6: 42,889,211 (GRCm39)	Y251*	probably null	Het
Or5p79	C	T	7: 108,221,096 (GRCm39)	L26F	probably benign	Het
Osbpl11	T	C	16: 33,045,018 (GRCm39)	S386P	probably damaging	Het
Papss2	A	G	19: 32,618,791 (GRCm39)	H283R	probably damaging	Het
Pcdha11	T	C	18: 37,139,796 (GRCm39)	V475A	possibly damaging	Het
Pglyrp3	T	C	3: 91,935,386 (GRCm39)	I212T	probably damaging	Het
Pkhd1l1	C	T	15: 44,368,949 (GRCm39)	R865W	probably benign	Het
Prdm9	T	C	17: 15,764,708 (GRCm39)	T691A	probably benign	Het
Rnf121	T	C	7: 101,673,313 (GRCm39)	D206G	probably benign	Het
Rnf122	T	A	8: 31,602,177 (GRCm39)	M1K	probably null	Het
Shank2	T	C	7: 143,733,518 (GRCm39)	S22P	probably damaging	Het
Smg6	C	T	11: 74,823,269 (GRCm39)	R175*	probably null	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Tiam2	A	G	17: 3,464,242 (GRCm39)		probably benign	Het
Trgv4	T	C	13: 19,369,567 (GRCm39)	Y104H	probably benign	Het
Ttn	C	T	2: 76,594,345 (GRCm39)	W18788*	probably null	Het
Vmn2r82	A	T	10: 79,231,914 (GRCm39)	I638F	probably benign	Het
Zswim6	A	G	13: 107,863,229 (GRCm39)		noncoding transcript	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
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
R6314:Thsd7a	UTSW	6	12,554,996 (GRCm39)	missense	possibly damaging	0.87
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'- GCTGCTGAGGGATAAATGCAC -3'
(R):5'- CCTTCACTCTGGGGTTTAAATCATC -3'

Sequencing Primer
(F):5'- GGGATAAATGCACAGACCAAGTCC -3'
(R):5'- ACTCTGGGGTTTAAATCATCTTTCTG -3'

Posted On

2015-07-06