Mutagenetix > Incidental Mutation

Incidental Mutation 'R5711:Thsd7b'

452197

Institutional Source

Beutler Lab

Gene Symbol

Thsd7b

Ensembl Gene

ENSMUSG00000042581

Gene Name

thrombospondin, type I, domain containing 7B

Synonyms

1700074E13Rik, D130067I03Rik

MMRRC Submission

043185-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R5711 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129201039-130147015 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129688139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 683 (N683K)

Ref Sequence

ENSEMBL: ENSMUSP00000073220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040311] [ENSMUST00000073527]

AlphaFold

Q6P4U0

Predicted Effect

probably damaging
Transcript: ENSMUST00000040311
AA Change: N683K

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

SMART Domains

Protein: ENSMUSP00000041716
Gene: ENSMUSG00000042581
AA Change: N683K

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
Blast:TSP1	43	98	3e-29	BLAST
Blast:TSP1	122	177	7e-24	BLAST
TSP1	182	233	2.47e-9	SMART
Blast:TSP1	290	338	1e-20	BLAST
TSP1	339	399	7e-9	SMART
Blast:TSP1	402	482	1e-27	BLAST
TSP1	487	543	2.12e-1	SMART
TSP1	604	661	3.9e-7	SMART
TSP1	664	735	2.73e-2	SMART
TSP1	740	796	1.01e-5	SMART
Blast:TSP1	799	869	4e-35	BLAST
TSP1	874	922	9.68e-3	SMART
TSP1	952	999	2.42e0	SMART
TSP1	1004	1051	1.15e-4	SMART
transmembrane domain	1070	1092	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000073527
AA Change: N683K

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

SMART Domains

Protein: ENSMUSP00000073220
Gene: ENSMUSG00000042581
AA Change: N683K

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
Blast:TSP1	43	98	5e-29	BLAST
Blast:TSP1	122	177	9e-24	BLAST
TSP1	182	233	2.47e-9	SMART
TSP1	339	399	7e-9	SMART
Blast:TSP1	402	482	2e-27	BLAST
TSP1	487	543	2.12e-1	SMART
TSP1	604	661	3.9e-7	SMART
TSP1	664	735	2.73e-2	SMART
TSP1	740	796	1.01e-5	SMART
Blast:TSP1	799	869	6e-35	BLAST
TSP1	874	922	9.68e-3	SMART
TSP1	952	999	2.42e0	SMART
TSP1	1004	1059	3.96e-8	SMART
TSP1	1062	1126	1.73e0	SMART
TSP1	1131	1182	6.05e-4	SMART
TSP1	1185	1246	9.52e-1	SMART
TSP1	1251	1303	3.21e-8	SMART
TSP1	1304	1369	5.52e-1	SMART
TSP1	1374	1432	3.92e-2	SMART
transmembrane domain	1558	1580	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak6	A	T	13: 100,790,722 (GRCm39)	T18S	probably damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arhgap19	A	G	19: 41,773,227 (GRCm39)	V275A	possibly damaging	Het
Cebpz	T	A	17: 79,242,040 (GRCm39)	Q538L	probably damaging	Het
Chgb	A	T	2: 132,634,618 (GRCm39)	I187F	probably benign	Het
Cldn1	C	A	16: 26,190,167 (GRCm39)	L70F	probably damaging	Het
Crybg2	A	T	4: 133,809,938 (GRCm39)	D1230V	probably damaging	Het
Csmd1	C	T	8: 16,003,703 (GRCm39)	C2617Y	probably damaging	Het
D7Ertd443e	T	A	7: 133,951,110 (GRCm39)	N188Y	probably benign	Het
Ddx51	A	G	5: 110,802,790 (GRCm39)	I214M	probably benign	Het
Dlg5	A	G	14: 24,200,716 (GRCm39)	V1328A	probably damaging	Het
Dnah2	C	T	11: 69,326,216 (GRCm39)	C3639Y	probably damaging	Het
Dync1i2	C	T	2: 71,081,326 (GRCm39)	T511I	probably benign	Het
Fam220a	A	T	5: 143,549,212 (GRCm39)	E208V	probably damaging	Het
Gm4846	T	C	1: 166,311,594 (GRCm39)	S422G	probably benign	Het
Grin2c	C	T	11: 115,141,115 (GRCm39)	R1001Q	probably benign	Het
H2-T3	T	C	17: 36,498,301 (GRCm39)	E248G	probably damaging	Het
Idi2	T	C	13: 9,008,518 (GRCm39)	V92A	probably benign	Het
Iqcd	C	T	5: 120,740,571 (GRCm39)	Q301*	probably null	Het
Klhl26	T	C	8: 70,904,974 (GRCm39)	D278G	probably damaging	Het
Mok	G	T	12: 110,774,503 (GRCm39)	T228K	probably damaging	Het
Or1e22	A	G	11: 73,377,008 (GRCm39)	I214T	probably damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pabpc1	T	C	15: 36,606,074 (GRCm39)	I101V	probably benign	Het
Ppargc1a	G	T	5: 51,631,562 (GRCm39)	Q356K	probably damaging	Het
Ptprt	T	A	2: 161,652,524 (GRCm39)	D608V	probably damaging	Het
Rxfp1	C	T	3: 79,586,054 (GRCm39)	C96Y	probably damaging	Het
Scn11a	A	C	9: 119,618,990 (GRCm39)	V784G	probably damaging	Het
Septin4	T	C	11: 87,458,723 (GRCm39)	S366P	probably benign	Het
Slc12a8	A	G	16: 33,410,679 (GRCm39)	Y226C	probably damaging	Het
Slc25a33	A	G	4: 149,846,914 (GRCm39)	V49A	possibly damaging	Het
Slc25a45	T	C	19: 5,934,451 (GRCm39)	S140P	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Spty2d1	G	T	7: 46,647,845 (GRCm39)	N361K	possibly damaging	Het
Stk4	G	A	2: 163,941,674 (GRCm39)	A297T	probably benign	Het
Tln2	T	C	9: 67,299,829 (GRCm39)	E141G	probably benign	Het
Tmem125	A	T	4: 118,399,216 (GRCm39)	C72S	probably damaging	Het
Ttn	G	T	2: 76,572,437 (GRCm39)	T26152K	probably damaging	Het
Uhrf1	G	A	17: 56,627,259 (GRCm39)	G643D	possibly damaging	Het
Vmn2r50	C	T	7: 9,774,299 (GRCm39)	M532I	possibly damaging	Het

Other mutations in Thsd7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Thsd7b	APN	1	129,523,571 (GRCm39)	missense	probably damaging	1.00
IGL00850:Thsd7b	APN	1	130,092,814 (GRCm39)	missense	probably benign	0.00
IGL00987:Thsd7b	APN	1	129,541,016 (GRCm39)	missense	probably damaging	1.00
IGL01068:Thsd7b	APN	1	129,523,883 (GRCm39)	missense	probably damaging	1.00
IGL01091:Thsd7b	APN	1	129,704,071 (GRCm39)	missense	probably benign	0.29
IGL01535:Thsd7b	APN	1	129,605,954 (GRCm39)	missense	possibly damaging	0.64
IGL01560:Thsd7b	APN	1	130,145,918 (GRCm39)	utr 3 prime	probably benign
IGL01701:Thsd7b	APN	1	129,358,665 (GRCm39)	missense	probably benign	0.07
IGL01775:Thsd7b	APN	1	129,556,676 (GRCm39)	missense	probably damaging	0.99
IGL02077:Thsd7b	APN	1	129,744,419 (GRCm39)	missense	probably damaging	1.00
IGL02338:Thsd7b	APN	1	129,523,508 (GRCm39)	missense	probably damaging	1.00
IGL02340:Thsd7b	APN	1	130,087,369 (GRCm39)	missense	probably benign	0.01
IGL02404:Thsd7b	APN	1	129,540,888 (GRCm39)	missense	probably damaging	1.00
IGL02519:Thsd7b	APN	1	129,540,932 (GRCm39)	missense	probably benign	0.22
IGL02543:Thsd7b	APN	1	130,092,840 (GRCm39)	missense	probably benign	0.03
IGL02740:Thsd7b	APN	1	129,540,864 (GRCm39)	missense	probably damaging	0.99
IGL02793:Thsd7b	APN	1	129,879,130 (GRCm39)	missense	probably damaging	1.00
IGL02875:Thsd7b	APN	1	129,879,130 (GRCm39)	missense	probably damaging	1.00
IGL02986:Thsd7b	APN	1	129,843,352 (GRCm39)	missense	probably benign	0.01
IGL03108:Thsd7b	APN	1	130,138,013 (GRCm39)	missense	probably damaging	1.00
IGL03114:Thsd7b	APN	1	130,116,288 (GRCm39)	missense	probably benign	0.00
IGL03195:Thsd7b	APN	1	129,556,646 (GRCm39)	missense	probably damaging	1.00
IGL03291:Thsd7b	APN	1	129,688,092 (GRCm39)	missense	possibly damaging	0.94
IGL03397:Thsd7b	APN	1	129,523,901 (GRCm39)	missense	probably benign	0.17
IGL03399:Thsd7b	APN	1	129,556,622 (GRCm39)	missense	probably damaging	1.00
R0184:Thsd7b	UTSW	1	129,358,701 (GRCm39)	missense	probably benign	0.00
R0277:Thsd7b	UTSW	1	130,123,000 (GRCm39)	missense	probably benign	0.00
R0526:Thsd7b	UTSW	1	129,879,129 (GRCm39)	missense	probably damaging	1.00
R0633:Thsd7b	UTSW	1	130,116,263 (GRCm39)	missense	possibly damaging	0.78
R0746:Thsd7b	UTSW	1	130,116,268 (GRCm39)	missense	probably benign	0.00
R0784:Thsd7b	UTSW	1	129,523,096 (GRCm39)	splice site	probably benign
R1158:Thsd7b	UTSW	1	130,117,672 (GRCm39)	splice site	probably null
R1267:Thsd7b	UTSW	1	129,556,577 (GRCm39)	splice site	probably null
R1375:Thsd7b	UTSW	1	130,087,423 (GRCm39)	missense	probably damaging	1.00
R1565:Thsd7b	UTSW	1	129,523,778 (GRCm39)	missense	possibly damaging	0.94
R1728:Thsd7b	UTSW	1	129,605,920 (GRCm39)	missense	probably benign
R1728:Thsd7b	UTSW	1	129,595,674 (GRCm39)	missense	probably benign	0.00
R1728:Thsd7b	UTSW	1	129,556,628 (GRCm39)	missense	probably damaging	1.00
R1728:Thsd7b	UTSW	1	130,044,368 (GRCm39)	missense	probably benign
R1729:Thsd7b	UTSW	1	129,605,920 (GRCm39)	missense	probably benign
R1729:Thsd7b	UTSW	1	129,595,674 (GRCm39)	missense	probably benign	0.00
R1729:Thsd7b	UTSW	1	129,556,628 (GRCm39)	missense	probably damaging	1.00
R1729:Thsd7b	UTSW	1	130,044,368 (GRCm39)	missense	probably benign
R1730:Thsd7b	UTSW	1	129,605,920 (GRCm39)	missense	probably benign
R1730:Thsd7b	UTSW	1	129,595,674 (GRCm39)	missense	probably benign	0.00
R1730:Thsd7b	UTSW	1	129,556,628 (GRCm39)	missense	probably damaging	1.00
R1730:Thsd7b	UTSW	1	130,044,368 (GRCm39)	missense	probably benign
R1739:Thsd7b	UTSW	1	129,595,674 (GRCm39)	missense	probably benign	0.00
R1739:Thsd7b	UTSW	1	129,556,628 (GRCm39)	missense	probably damaging	1.00
R1739:Thsd7b	UTSW	1	130,044,368 (GRCm39)	missense	probably benign
R1739:Thsd7b	UTSW	1	129,605,920 (GRCm39)	missense	probably benign
R1762:Thsd7b	UTSW	1	129,595,674 (GRCm39)	missense	probably benign	0.00
R1762:Thsd7b	UTSW	1	129,556,628 (GRCm39)	missense	probably damaging	1.00
R1762:Thsd7b	UTSW	1	130,044,368 (GRCm39)	missense	probably benign
R1762:Thsd7b	UTSW	1	130,030,813 (GRCm39)	missense	possibly damaging	0.92
R1762:Thsd7b	UTSW	1	129,605,920 (GRCm39)	missense	probably benign
R1783:Thsd7b	UTSW	1	129,605,920 (GRCm39)	missense	probably benign
R1783:Thsd7b	UTSW	1	129,595,674 (GRCm39)	missense	probably benign	0.00
R1783:Thsd7b	UTSW	1	129,556,628 (GRCm39)	missense	probably damaging	1.00
R1783:Thsd7b	UTSW	1	130,044,368 (GRCm39)	missense	probably benign
R1784:Thsd7b	UTSW	1	129,595,674 (GRCm39)	missense	probably benign	0.00
R1784:Thsd7b	UTSW	1	129,556,628 (GRCm39)	missense	probably damaging	1.00
R1784:Thsd7b	UTSW	1	130,044,368 (GRCm39)	missense	probably benign
R1784:Thsd7b	UTSW	1	129,605,920 (GRCm39)	missense	probably benign
R1785:Thsd7b	UTSW	1	129,605,920 (GRCm39)	missense	probably benign
R1785:Thsd7b	UTSW	1	129,595,674 (GRCm39)	missense	probably benign	0.00
R1785:Thsd7b	UTSW	1	129,556,628 (GRCm39)	missense	probably damaging	1.00
R1785:Thsd7b	UTSW	1	130,044,368 (GRCm39)	missense	probably benign
R1812:Thsd7b	UTSW	1	129,686,347 (GRCm39)	missense	probably damaging	1.00
R1846:Thsd7b	UTSW	1	129,540,993 (GRCm39)	missense	probably damaging	1.00
R1908:Thsd7b	UTSW	1	129,605,846 (GRCm39)	missense	probably damaging	0.99
R1996:Thsd7b	UTSW	1	129,686,188 (GRCm39)	nonsense	probably null
R2199:Thsd7b	UTSW	1	130,145,895 (GRCm39)	missense	probably benign	0.04
R2483:Thsd7b	UTSW	1	130,030,809 (GRCm39)	missense	probably damaging	1.00
R2919:Thsd7b	UTSW	1	130,117,587 (GRCm39)	splice site	probably benign
R2935:Thsd7b	UTSW	1	129,605,824 (GRCm39)	missense	possibly damaging	0.83
R3113:Thsd7b	UTSW	1	129,977,599 (GRCm39)	missense	probably benign	0.23
R3236:Thsd7b	UTSW	1	130,145,855 (GRCm39)	nonsense	probably null
R3745:Thsd7b	UTSW	1	129,605,978 (GRCm39)	missense	probably benign	0.04
R3877:Thsd7b	UTSW	1	130,117,919 (GRCm39)	missense	possibly damaging	0.92
R3880:Thsd7b	UTSW	1	129,523,107 (GRCm39)	missense	probably damaging	1.00
R4110:Thsd7b	UTSW	1	130,044,356 (GRCm39)	missense	probably benign	0.18
R4112:Thsd7b	UTSW	1	130,044,356 (GRCm39)	missense	probably benign	0.18
R4255:Thsd7b	UTSW	1	129,688,024 (GRCm39)	missense	possibly damaging	0.79
R4621:Thsd7b	UTSW	1	129,358,652 (GRCm39)	missense	possibly damaging	0.47
R4703:Thsd7b	UTSW	1	129,977,646 (GRCm39)	intron	probably benign
R4732:Thsd7b	UTSW	1	129,540,923 (GRCm39)	missense	probably damaging	1.00
R4733:Thsd7b	UTSW	1	129,540,923 (GRCm39)	missense	probably damaging	1.00
R4755:Thsd7b	UTSW	1	130,138,001 (GRCm39)	missense	probably benign	0.01
R4805:Thsd7b	UTSW	1	130,116,276 (GRCm39)	missense	probably benign	0.04
R4840:Thsd7b	UTSW	1	129,523,581 (GRCm39)	missense	probably benign	0.00
R4879:Thsd7b	UTSW	1	130,116,236 (GRCm39)	missense	possibly damaging	0.62
R4936:Thsd7b	UTSW	1	129,605,882 (GRCm39)	missense	probably benign	0.00
R4972:Thsd7b	UTSW	1	130,116,309 (GRCm39)	missense	probably damaging	0.97
R5304:Thsd7b	UTSW	1	129,605,980 (GRCm39)	nonsense	probably null
R5422:Thsd7b	UTSW	1	129,849,071 (GRCm39)	missense	probably benign	0.41
R5495:Thsd7b	UTSW	1	129,523,570 (GRCm39)	missense	probably damaging	1.00
R5598:Thsd7b	UTSW	1	129,523,578 (GRCm39)	missense	probably damaging	1.00
R5620:Thsd7b	UTSW	1	130,090,673 (GRCm39)	critical splice donor site	probably null
R5638:Thsd7b	UTSW	1	129,523,270 (GRCm39)	missense	probably benign	0.00
R5640:Thsd7b	UTSW	1	130,044,408 (GRCm39)	nonsense	probably null
R5655:Thsd7b	UTSW	1	129,556,671 (GRCm39)	splice site	probably null
R5823:Thsd7b	UTSW	1	129,605,821 (GRCm39)	missense	probably benign	0.00
R5888:Thsd7b	UTSW	1	130,138,057 (GRCm39)	nonsense	probably null
R5932:Thsd7b	UTSW	1	129,358,575 (GRCm39)	missense	probably benign
R6243:Thsd7b	UTSW	1	130,090,599 (GRCm39)	missense	probably benign	0.21
R6258:Thsd7b	UTSW	1	129,595,655 (GRCm39)	missense	probably benign
R6260:Thsd7b	UTSW	1	129,595,655 (GRCm39)	missense	probably benign
R6399:Thsd7b	UTSW	1	129,744,385 (GRCm39)	missense	probably benign	0.13
R6437:Thsd7b	UTSW	1	129,744,419 (GRCm39)	missense	probably damaging	1.00
R6719:Thsd7b	UTSW	1	130,087,451 (GRCm39)	splice site	probably null
R6785:Thsd7b	UTSW	1	129,358,644 (GRCm39)	missense	probably damaging	0.99
R7304:Thsd7b	UTSW	1	130,030,890 (GRCm39)	missense	probably benign	0.01
R7334:Thsd7b	UTSW	1	130,123,012 (GRCm39)	missense	probably benign	0.00
R7414:Thsd7b	UTSW	1	129,556,717 (GRCm39)	missense	probably damaging	0.99
R7673:Thsd7b	UTSW	1	129,843,487 (GRCm39)	splice site	probably null
R7683:Thsd7b	UTSW	1	129,523,683 (GRCm39)	missense	probably damaging	0.99
R7861:Thsd7b	UTSW	1	130,087,435 (GRCm39)	missense	probably benign	0.00
R8145:Thsd7b	UTSW	1	129,688,036 (GRCm39)	missense	probably damaging	1.00
R8241:Thsd7b	UTSW	1	130,117,688 (GRCm39)	missense	probably damaging	1.00
R8296:Thsd7b	UTSW	1	129,523,193 (GRCm39)	missense	probably benign	0.01
R8355:Thsd7b	UTSW	1	129,523,616 (GRCm39)	missense	probably damaging	1.00
R8507:Thsd7b	UTSW	1	129,605,790 (GRCm39)	missense	probably benign	0.21
R8520:Thsd7b	UTSW	1	129,849,157 (GRCm39)	missense	probably benign	0.07
R8555:Thsd7b	UTSW	1	129,523,191 (GRCm39)	missense	probably damaging	1.00
R8682:Thsd7b	UTSW	1	129,688,011 (GRCm39)	nonsense	probably null
R8981:Thsd7b	UTSW	1	129,523,187 (GRCm39)	missense	possibly damaging	0.88
R9029:Thsd7b	UTSW	1	130,087,426 (GRCm39)	missense	probably damaging	1.00
R9133:Thsd7b	UTSW	1	129,843,382 (GRCm39)	missense	probably benign	0.18
R9194:Thsd7b	UTSW	1	129,843,371 (GRCm39)	missense	possibly damaging	0.78
R9229:Thsd7b	UTSW	1	129,849,027 (GRCm39)	missense	probably damaging	1.00
R9239:Thsd7b	UTSW	1	130,087,453 (GRCm39)	critical splice donor site	probably null
R9460:Thsd7b	UTSW	1	130,090,674 (GRCm39)	critical splice donor site	probably null
R9466:Thsd7b	UTSW	1	130,122,866 (GRCm39)	missense	probably benign
R9588:Thsd7b	UTSW	1	130,108,223 (GRCm39)	missense	probably damaging	1.00
X0027:Thsd7b	UTSW	1	129,523,809 (GRCm39)	missense	probably benign	0.00
Z1176:Thsd7b	UTSW	1	129,556,648 (GRCm39)	missense	probably benign	0.17
Z1176:Thsd7b	UTSW	1	129,523,397 (GRCm39)	missense	probably benign	0.01
Z1176:Thsd7b	UTSW	1	129,523,253 (GRCm39)	missense	probably damaging	0.98
Z1176:Thsd7b	UTSW	1	130,108,161 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- GTTAGGTTCCAGGATGCAGAAG -3'
(R):5'- ATAAACCTATGCCTGCCTGTTG -3'

Sequencing Primer
(F):5'- TGATAGCATTGCGATTCATGTTC -3'
(R):5'- GGTCATTACTTGTCCCAC -3'

Posted On

2017-01-03