Mutagenetix > Incidental Mutations

Incidental Mutation 'R4753:Svep1'

357722

Institutional Source

Beutler Lab

Gene Symbol

Svep1

Ensembl Gene

ENSMUSG00000028369

Gene Name

sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1

Synonyms

D430029O09Rik, 4833413O10Rik, Polydom, 1110021D17Rik

MMRRC Submission

041971-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4753 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58042442-58206859 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58053212 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 3378 (I3378V)

Ref Sequence

ENSEMBL: ENSMUSP00000045856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042850]

Predicted Effect

probably benign
Transcript: ENSMUST00000042850
AA Change: I3378V

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000045856
Gene: ENSMUSG00000028369
AA Change: I3378V

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	51	60	N/A	INTRINSIC
VWA	82	261	2.18e-32	SMART
Pfam:GCC2_GCC3	311	361	3.4e-14	PFAM
CCP	379	434	3.62e-8	SMART
CCP	439	494	1.78e-16	SMART
CCP	499	559	2.13e-5	SMART
Pfam:HYR	560	642	1.7e-20	PFAM
Pfam:HYR	643	722	4.6e-15	PFAM
CCP	727	787	3.59e-1	SMART
low complexity region	862	873	N/A	INTRINSIC
Pfam:GCC2_GCC3	1004	1051	3.2e-16	PFAM
Pfam:GCC2_GCC3	1058	1105	5.4e-19	PFAM
Pfam:GCC2_GCC3	1112	1159	7.7e-19	PFAM
EGF	1195	1228	3.12e-7	SMART
EGF_CA	1230	1266	3.93e-13	SMART
EGF_CA	1268	1304	8.3e-12	SMART
EGF_CA	1306	1342	4.59e-14	SMART
EGF_CA	1344	1380	8.69e-15	SMART
EGF_CA	1382	1418	3.42e-13	SMART
Pfam:Pentaxin	1429	1622	1.8e-28	PFAM
Pfam:Laminin_G_3	1432	1589	1.1e-20	PFAM
CCP	1630	1684	1.71e-9	SMART
CCP	1689	1742	2.31e-15	SMART
EGF_CA	1744	1783	5.23e-9	SMART
CCP	1788	1841	4.62e-15	SMART
CCP	1846	1899	8.29e-17	SMART
CCP	1904	1957	1.1e-12	SMART
CCP	1962	2015	5.6e-14	SMART
CCP	2020	2077	4.15e-8	SMART
CCP	2082	2140	8.11e-11	SMART
CCP	2145	2198	4.38e-16	SMART
CCP	2203	2258	1.69e-8	SMART
CCP	2263	2317	1.42e-15	SMART
CCP	2322	2375	3.1e-7	SMART
CCP	2380	2434	4.55e-14	SMART
CCP	2439	2492	6.95e-10	SMART
CCP	2497	2550	8.88e-17	SMART
CCP	2555	2607	1.7e-13	SMART
CCP	2651	2709	1.02e-7	SMART
CCP	2714	2767	9.6e-13	SMART
CCP	2772	2825	3.64e-13	SMART
CCP	2830	2883	6.63e-16	SMART
CCP	2888	2941	2.76e-13	SMART
CCP	2946	2999	4.41e-12	SMART
CCP	3004	3055	4.25e-5	SMART
CCP	3060	3113	5.15e-13	SMART
CCP	3118	3172	2.11e-9	SMART
CCP	3177	3232	1.02e-7	SMART
CCP	3237	3290	6.19e-16	SMART
CCP	3295	3348	5.35e-11	SMART
CCP	3353	3407	8.43e-9	SMART
CCP	3412	3464	2.44e-14	SMART
EGF	3467	3496	1.28e-3	SMART
EGF	3499	3528	1.15e-5	SMART
EGF	3531	3560	2.85e-1	SMART

Meta Mutation Damage Score

0.0702

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (57/58)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete preweaning lethality, edema, abnormal skin coloration, thick epidermis, acanthosis, and tail/limb abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd55	T	A	13: 112,363,475	D257E	probably benign	Het
Arhgef18	T	C	8: 3,444,938	V399A	probably damaging	Het
Atp8b5	C	T	4: 43,372,710	P1117S	probably damaging	Het
Cd48	A	G	1: 171,699,588	Q194R	probably damaging	Het
Cdk13	G	A	13: 17,763,248	R737C	probably damaging	Het
Clasrp	A	T	7: 19,594,940	I89N	probably damaging	Het
Clrn1	G	T	3: 58,884,897	N48K	probably damaging	Het
Cntrl	T	A	2: 35,153,439	V1313E	possibly damaging	Het
Cyld	T	A	8: 88,744,816		probably null	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dtl	T	C	1: 191,569,703	T81A	probably damaging	Het
Dus1l	C	T	11: 120,792,075	E299K	probably benign	Het
E130114P18Rik	A	T	4: 97,574,892	D14E	possibly damaging	Het
Fam83g	C	A	11: 61,695,269	H228N	probably damaging	Het
Fhod3	A	T	18: 25,090,325	K909N	possibly damaging	Het
Fign	T	A	2: 63,979,019	I636L	probably benign	Het
Foxm1	A	G	6: 128,372,556	E346G	probably null	Het
Gcc2	T	C	10: 58,290,382	Y1271H	probably benign	Het
Gcn1l1	T	C	5: 115,616,478	V2379A	probably benign	Het
Grin2d	G	T	7: 45,833,906	P949Q	probably damaging	Het
Ighv1-43	C	A	12: 114,946,142	M53I	probably benign	Het
Itgad	A	G	7: 128,223,703	*97W	probably null	Het
Jade1	C	T	3: 41,596,671	R2*	probably null	Het
Lama3	G	T	18: 12,482,084	C1355F	probably damaging	Het
Map3k13	T	C	16: 21,892,002	S12P	probably benign	Het
Masp2	A	G	4: 148,612,151	T402A	probably benign	Het
Mill1	A	C	7: 18,262,547	K96T	probably benign	Het
Muc19	T	G	15: 91,877,761		noncoding transcript	Het
Muc5b	C	A	7: 141,856,853	T1321N	unknown	Het
Nfkb2	G	T	19: 46,307,567	E170D	probably benign	Het
Olfr1377	T	C	11: 50,985,151	V150A	probably benign	Het
Olfr395	T	A	11: 73,906,851	I214F	probably damaging	Het
Pdgfra	C	T	5: 75,181,524	P669S	probably damaging	Het
Procr	A	G	2: 155,753,464	N63D	probably damaging	Het
Prrc2c	A	G	1: 162,691,230	S2136P	probably damaging	Het
Rab11fip1	T	C	8: 27,152,741	M677V	probably benign	Het
Rad52	T	A	6: 119,912,985		probably benign	Het
Rasa1	A	G	13: 85,288,390		probably null	Het
Rogdi	T	C	16: 5,010,499	T189A	probably damaging	Het
Rph3al	G	A	11: 75,909,019	T38M	probably damaging	Het
Rps6ka2	T	A	17: 7,299,308	V655E	possibly damaging	Het
Sik3	T	C	9: 46,198,214	F499L	probably damaging	Het
Skint4	A	G	4: 112,146,531	N387S	probably benign	Het
Slc6a12	C	T	6: 121,356,903		probably benign	Het
Stk36	A	G	1: 74,626,096	T667A	probably benign	Het
Thnsl1	C	T	2: 21,213,364	T122I	probably damaging	Het
Timeless	G	A	10: 128,240,020		probably benign	Het
Tnxb	G	A	17: 34,695,935	V1966I	possibly damaging	Het
Tril	A	G	6: 53,819,713	F175L	probably damaging	Het
Vav1	A	G	17: 57,306,140	Y604C	probably damaging	Het
Zfp423	T	A	8: 87,781,446	M736L	probably benign	Het
Zscan10	A	C	17: 23,607,234	E123D	probably damaging	Het

Other mutations in Svep1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Svep1	APN	4	58176077	missense	probably damaging	0.98
IGL00489:Svep1	APN	4	58068988	missense	possibly damaging	0.71
IGL00496:Svep1	APN	4	58069001	missense	possibly damaging	0.95
IGL00864:Svep1	APN	4	58068533	nonsense	probably null
IGL00904:Svep1	APN	4	58097398	missense	probably benign	0.00
IGL00935:Svep1	APN	4	58090664	missense	possibly damaging	0.71
IGL00963:Svep1	APN	4	58072791	nonsense	probably null
IGL01077:Svep1	APN	4	58068760	missense	possibly damaging	0.71
IGL01084:Svep1	APN	4	58111419	missense	possibly damaging	0.71
IGL01150:Svep1	APN	4	58070302	missense	probably benign	0.04
IGL01161:Svep1	APN	4	58146569	missense	probably damaging	0.96
IGL01360:Svep1	APN	4	58116554	missense	possibly damaging	0.73
IGL01365:Svep1	APN	4	58100878	critical splice acceptor site	probably null
IGL01396:Svep1	APN	4	58068552	missense	possibly damaging	0.85
IGL01601:Svep1	APN	4	58084872	missense	probably damaging	1.00
IGL01636:Svep1	APN	4	58116622	missense	possibly damaging	0.96
IGL01838:Svep1	APN	4	58121910	missense	possibly damaging	0.72
IGL01949:Svep1	APN	4	58176006	missense	probably damaging	1.00
IGL01984:Svep1	APN	4	58068877	missense	possibly damaging	0.93
IGL02005:Svep1	APN	4	58069056	missense	possibly damaging	0.93
IGL02036:Svep1	APN	4	58088245	missense	possibly damaging	0.85
IGL02039:Svep1	APN	4	58123980	critical splice donor site	probably null
IGL02043:Svep1	APN	4	58068556	missense	probably benign	0.19
IGL02073:Svep1	APN	4	58070104	missense	probably benign	0.06
IGL02188:Svep1	APN	4	58068382	missense	possibly damaging	0.71
IGL02256:Svep1	APN	4	58070311	missense	possibly damaging	0.71
IGL02284:Svep1	APN	4	58072819	missense	probably benign	0.32
IGL02323:Svep1	APN	4	58070236	nonsense	probably null
IGL02440:Svep1	APN	4	58145293	missense	probably benign	0.06
IGL02449:Svep1	APN	4	58070296	missense	possibly damaging	0.71
IGL02501:Svep1	APN	4	58145341	splice site	probably benign
IGL02568:Svep1	APN	4	58135441	missense	probably benign	0.42
IGL02625:Svep1	APN	4	58115807	missense	possibly damaging	0.53
IGL02795:Svep1	APN	4	58123223	missense	probably damaging	1.00
IGL02818:Svep1	APN	4	58069804	missense	possibly damaging	0.71
IGL02871:Svep1	APN	4	58100871	missense	probably benign
IGL02875:Svep1	APN	4	58082821	splice site	probably benign
IGL02887:Svep1	APN	4	58145301	missense	probably damaging	1.00
IGL03240:Svep1	APN	4	58048188	missense	possibly damaging	0.73
IGL03243:Svep1	APN	4	58133387	missense	probably benign	0.06
IGL03264:Svep1	APN	4	58066422	splice site	probably benign
IGL03288:Svep1	APN	4	58116532	missense	probably benign	0.01
IGL03340:Svep1	APN	4	58111451	missense	possibly damaging	0.96
IGL03341:Svep1	APN	4	58070308	nonsense	probably null
IGL03348:Svep1	APN	4	58113635	missense	probably damaging	1.00
R0001:Svep1	UTSW	4	58066460	missense	possibly damaging	0.93
R0042:Svep1	UTSW	4	58123192	missense	possibly damaging	0.92
R0042:Svep1	UTSW	4	58123192	missense	possibly damaging	0.92
R0125:Svep1	UTSW	4	58099937	splice site	probably benign
R0142:Svep1	UTSW	4	58118232	missense	probably benign	0.33
R0147:Svep1	UTSW	4	58116608	missense	possibly damaging	0.85
R0148:Svep1	UTSW	4	58116608	missense	possibly damaging	0.85
R0157:Svep1	UTSW	4	58069830	missense	possibly damaging	0.72
R0195:Svep1	UTSW	4	58089514	missense	possibly damaging	0.82
R0197:Svep1	UTSW	4	58070851	missense	possibly damaging	0.71
R0257:Svep1	UTSW	4	58179610	missense	possibly damaging	0.71
R0314:Svep1	UTSW	4	58096331	missense	possibly damaging	0.71
R0316:Svep1	UTSW	4	58072737	missense	probably damaging	0.98
R0322:Svep1	UTSW	4	58057996	splice site	probably benign
R0426:Svep1	UTSW	4	58073333	missense	possibly damaging	0.87
R0446:Svep1	UTSW	4	58088280	missense	probably damaging	1.00
R0457:Svep1	UTSW	4	58118136	missense	probably damaging	1.00
R0471:Svep1	UTSW	4	58054700	missense	possibly damaging	0.85
R0555:Svep1	UTSW	4	58128858	missense	possibly damaging	0.71
R0634:Svep1	UTSW	4	58070661	missense	possibly damaging	0.86
R0636:Svep1	UTSW	4	58073121	nonsense	probably null
R0827:Svep1	UTSW	4	58053113	splice site	probably benign
R1025:Svep1	UTSW	4	58087817	missense	possibly damaging	0.86
R1027:Svep1	UTSW	4	58094084	missense	possibly damaging	0.86
R1069:Svep1	UTSW	4	58070239	missense	probably damaging	1.00
R1161:Svep1	UTSW	4	58069416	missense	possibly damaging	0.71
R1245:Svep1	UTSW	4	58066427	critical splice donor site	probably null
R1282:Svep1	UTSW	4	58100032	missense	possibly damaging	0.93
R1310:Svep1	UTSW	4	58069416	missense	possibly damaging	0.71
R1444:Svep1	UTSW	4	58115754	missense	possibly damaging	0.53
R1460:Svep1	UTSW	4	58068740	missense	possibly damaging	0.85
R1500:Svep1	UTSW	4	58070239	missense	probably damaging	1.00
R1628:Svep1	UTSW	4	58107561	missense	probably benign	0.00
R1712:Svep1	UTSW	4	58070629	missense	probably benign	0.06
R1774:Svep1	UTSW	4	58146562	missense	possibly damaging	0.92
R1783:Svep1	UTSW	4	58073333	missense	probably benign
R1829:Svep1	UTSW	4	58096310	missense	possibly damaging	0.93
R1978:Svep1	UTSW	4	58097292	missense	possibly damaging	0.73
R1993:Svep1	UTSW	4	58064170	critical splice donor site	probably null
R2017:Svep1	UTSW	4	58070568	missense	probably benign	0.08
R2058:Svep1	UTSW	4	58084554	missense	possibly damaging	0.92
R2109:Svep1	UTSW	4	58206030	missense	possibly damaging	0.51
R2215:Svep1	UTSW	4	58138602	splice site	probably benign
R2281:Svep1	UTSW	4	58082677	missense	possibly damaging	0.85
R2504:Svep1	UTSW	4	58135628	splice site	probably null
R2763:Svep1	UTSW	4	58084061	missense	possibly damaging	0.86
R3122:Svep1	UTSW	4	58087845	missense	possibly damaging	0.51
R3605:Svep1	UTSW	4	58066542	missense	probably benign	0.32
R3763:Svep1	UTSW	4	58084833	missense	possibly damaging	0.89
R3827:Svep1	UTSW	4	58096177	missense	probably damaging	0.98
R3829:Svep1	UTSW	4	58096177	missense	probably damaging	0.98
R3830:Svep1	UTSW	4	58096177	missense	probably damaging	0.98
R3910:Svep1	UTSW	4	58145156	critical splice donor site	probably null
R3943:Svep1	UTSW	4	58084807	splice site	probably null
R3944:Svep1	UTSW	4	58084807	splice site	probably null
R4153:Svep1	UTSW	4	58089426	missense	possibly damaging	0.52
R4154:Svep1	UTSW	4	58069068	missense	possibly damaging	0.71
R4191:Svep1	UTSW	4	58046601	missense	possibly damaging	0.86
R4355:Svep1	UTSW	4	58138695	missense	possibly damaging	0.71
R4388:Svep1	UTSW	4	58069249	missense	possibly damaging	0.93
R4532:Svep1	UTSW	4	58068886	missense	possibly damaging	0.52
R4584:Svep1	UTSW	4	58068526	nonsense	probably null
R4592:Svep1	UTSW	4	58084028	missense	possibly damaging	0.93
R4593:Svep1	UTSW	4	58091944	missense	possibly damaging	0.71
R4625:Svep1	UTSW	4	58072698	missense	probably damaging	0.98
R4639:Svep1	UTSW	4	58082724	missense	probably benign
R4700:Svep1	UTSW	4	58097323	missense	possibly damaging	0.71
R4720:Svep1	UTSW	4	58205869	missense	possibly damaging	0.71
R4724:Svep1	UTSW	4	58070752	missense	possibly damaging	0.71
R4781:Svep1	UTSW	4	58070340	missense	probably damaging	0.98
R4820:Svep1	UTSW	4	58082664	missense	probably benign	0.27
R4896:Svep1	UTSW	4	58087751	missense	probably benign	0.08
R4905:Svep1	UTSW	4	58069308	missense	probably benign	0.00
R4910:Svep1	UTSW	4	58096276	missense	possibly damaging	0.71
R4972:Svep1	UTSW	4	58087778	missense	possibly damaging	0.71
R5004:Svep1	UTSW	4	58087751	missense	probably benign	0.08
R5088:Svep1	UTSW	4	58120648	missense	possibly damaging	0.73
R5112:Svep1	UTSW	4	58068610	nonsense	probably null
R5185:Svep1	UTSW	4	58084534	missense	probably damaging	0.99
R5302:Svep1	UTSW	4	58096183	missense	possibly damaging	0.71
R5307:Svep1	UTSW	4	58072677	missense	possibly damaging	0.71
R5339:Svep1	UTSW	4	58121892	missense	possibly damaging	0.96
R5379:Svep1	UTSW	4	58072991	missense	possibly damaging	0.51
R5384:Svep1	UTSW	4	58104545	missense	possibly damaging	0.71
R5414:Svep1	UTSW	4	58206322	missense	possibly damaging	0.53
R5514:Svep1	UTSW	4	58044054	missense	possibly damaging	0.53
R5538:Svep1	UTSW	4	58049282	critical splice acceptor site	probably null
R5549:Svep1	UTSW	4	58057954	missense	probably benign	0.32
R5618:Svep1	UTSW	4	58070537	missense	probably benign
R5623:Svep1	UTSW	4	58091964	missense	possibly damaging	0.92
R5686:Svep1	UTSW	4	58072826	missense	possibly damaging	0.71
R5743:Svep1	UTSW	4	58096223	missense	possibly damaging	0.71
R5773:Svep1	UTSW	4	58099985	missense	possibly damaging	0.86
R5809:Svep1	UTSW	4	58116524	missense	possibly damaging	0.73
R5896:Svep1	UTSW	4	58084906	missense	possibly damaging	0.71
R5918:Svep1	UTSW	4	58069345	missense	possibly damaging	0.71
R5969:Svep1	UTSW	4	58070977	nonsense	probably null
R6010:Svep1	UTSW	4	58115832	missense	possibly damaging	0.95
R6187:Svep1	UTSW	4	58072872	missense	probably damaging	1.00
R6192:Svep1	UTSW	4	58104536	missense	possibly damaging	0.92
R6209:Svep1	UTSW	4	58128869	missense	probably benign	0.32
R6234:Svep1	UTSW	4	58113458	intron	probably null
R6326:Svep1	UTSW	4	58073045	missense	possibly damaging	0.51
R6400:Svep1	UTSW	4	58049169	missense	probably damaging	1.00
R6418:Svep1	UTSW	4	58053126	missense	probably benign	0.01
R6440:Svep1	UTSW	4	58116555	missense	possibly damaging	0.53
R6489:Svep1	UTSW	4	58100066	missense	probably damaging	1.00
R6515:Svep1	UTSW	4	58088280	missense	probably damaging	1.00
R6738:Svep1	UTSW	4	58123180	missense	possibly damaging	0.71
R6773:Svep1	UTSW	4	58049146	missense	possibly damaging	0.71
R6796:Svep1	UTSW	4	58064275	missense	probably benign	0.01
R7055:Svep1	UTSW	4	58064275	missense	probably benign	0.19
R7055:Svep1	UTSW	4	58120642	missense	probably benign	0.33
R7111:Svep1	UTSW	4	58118207	missense	possibly damaging	0.70
R7161:Svep1	UTSW	4	58128859	missense	possibly damaging	0.93
R7162:Svep1	UTSW	4	58070262	missense	possibly damaging	0.71
R7182:Svep1	UTSW	4	58043991	missense	probably benign	0.18
R7292:Svep1	UTSW	4	58111395	missense	possibly damaging	0.71
R7299:Svep1	UTSW	4	58046587	nonsense	probably null
R7301:Svep1	UTSW	4	58046587	nonsense	probably null
R7316:Svep1	UTSW	4	58068763	missense	possibly damaging	0.71
R7337:Svep1	UTSW	4	58108323	missense	probably damaging	0.98
R7391:Svep1	UTSW	4	58145185	missense	probably damaging	0.98
R7402:Svep1	UTSW	4	58069699	missense	possibly damaging	0.71
R7445:Svep1	UTSW	4	58094122	missense	possibly damaging	0.85
R7450:Svep1	UTSW	4	58064248	missense	possibly damaging	0.71
R7492:Svep1	UTSW	4	58066468	missense	possibly damaging	0.51
R7505:Svep1	UTSW	4	58115862	missense	possibly damaging	0.53
R7509:Svep1	UTSW	4	58090683	missense	probably benign	0.40
R7538:Svep1	UTSW	4	58053260	missense	possibly damaging	0.71
R7555:Svep1	UTSW	4	58069422	missense	probably damaging	0.98
R7660:Svep1	UTSW	4	58087782	missense	probably benign	0.32
R7670:Svep1	UTSW	4	58097424	missense	probably damaging	1.00
R7719:Svep1	UTSW	4	58068523	missense	probably damaging	0.97
R7733:Svep1	UTSW	4	58049239	missense	probably benign	0.03
R7781:Svep1	UTSW	4	58069251	missense	possibly damaging	0.71
R7821:Svep1	UTSW	4	58179601	missense	probably damaging	0.99
X0063:Svep1	UTSW	4	58070468	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGAATCCTAATCTCCTAGTCAGGG -3'
(R):5'- TGCAGGCCTCTAGTTTGTC -3'

Sequencing Primer
(F):5'- GAGATGGCTCAGAAGTTTTGAACATC -3'
(R):5'- CAGGCCTCTAGTTTGTCTGTAAAGAG -3'

Posted On

2015-11-11