Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01396:Svep1'

79426

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01396

Quality Score

Status

Chromosome

Chromosomal Location

58042442-58206859 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58068552 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 3078 (E3078G)

Ref Sequence

ENSEMBL: ENSMUSP00000045856 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042850
AA Change: E3078G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045856
Gene: ENSMUSG00000028369
AA Change: E3078G

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

Coding Region Coverage

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 87,972,790	Y469N	probably benign	Het
Actl11	T	C	9: 107,928,765	S96P	possibly damaging	Het
Ankrd13b	T	A	11: 77,472,372		probably null	Het
Apobec4	T	A	1: 152,756,266	I15K	probably damaging	Het
Arhgef28	G	T	13: 97,953,893	D1039E	probably damaging	Het
Atp1a1	C	T	3: 101,591,453	G175R	probably damaging	Het
AU040320	T	A	4: 126,869,378		probably benign	Het
Bcl9l	G	A	9: 44,506,824	R653H	probably damaging	Het
Ccdc141	T	A	2: 77,128,325	I144L	possibly damaging	Het
Cdh20	C	T	1: 104,947,429	T312I	possibly damaging	Het
Cdh23	C	T	10: 60,385,069	V1297I	possibly damaging	Het
Cfap57	T	C	4: 118,610,595	Y315C	probably damaging	Het
Chd8	A	G	14: 52,204,587		probably benign	Het
Cog5	A	G	12: 31,894,096	D660G	probably benign	Het
Cps1	T	C	1: 67,157,786	I332T	probably damaging	Het
Csgalnact2	T	C	6: 118,126,327	T225A	probably damaging	Het
Dchs1	A	G	7: 105,772,283	L310P	probably damaging	Het
Dgki	T	C	6: 37,000,090	N695S	probably damaging	Het
Gas7	T	A	11: 67,652,914		probably null	Het
Gm21286	T	C	4: 60,838,324		noncoding transcript	Het
Gm4799	C	T	10: 82,954,684		noncoding transcript	Het
Hdac4	T	C	1: 91,959,474		probably benign	Het
Hif1a	T	A	12: 73,940,533	S467T	probably benign	Het
Ier5	A	G	1: 155,098,550	V294A	probably damaging	Het
Ifna11	T	C	4: 88,820,077	V40A	probably benign	Het
Itga9	T	C	9: 118,607,123		probably benign	Het
Lbx1	G	T	19: 45,234,231	Q118K	probably benign	Het
Lta	A	T	17: 35,204,085		probably null	Het
Matr3	A	G	18: 35,588,389	Y471C	probably damaging	Het
Nrg2	A	T	18: 36,045,852		probably benign	Het
Olfr1156	G	T	2: 87,949,863	F123L	probably damaging	Het
Olfr1195	C	T	2: 88,683,231	C167Y	probably damaging	Het
Olfr1301	T	A	2: 111,754,603	M118K	probably damaging	Het
Olfr1301	T	C	2: 111,754,503	F85L	probably benign	Het
Patl1	A	G	19: 11,923,883	K299R	probably damaging	Het
Pdgfrb	A	G	18: 61,072,664	E574G	probably damaging	Het
Phf3	G	A	1: 30,804,305	Q1858*	probably null	Het
Prkca	T	C	11: 108,014,322	K197E	possibly damaging	Het
Psmc6	C	A	14: 45,343,667	Q307K	probably benign	Het
Rasa1	T	C	13: 85,258,442	I181V	probably benign	Het
Scel	A	G	14: 103,608,094		probably benign	Het
Scn5a	A	T	9: 119,534,704	S457T	probably damaging	Het
Sesn3	A	G	9: 14,321,078	T216A	probably benign	Het
Slc25a21	A	G	12: 57,159,189	V19A	probably benign	Het
Slc34a1	A	G	13: 55,402,733	T81A	probably damaging	Het
Slc35a5	A	G	16: 45,151,503	Y117H	probably damaging	Het
Sptbn4	A	G	7: 27,414,771	V569A	probably benign	Het
Sqle	A	G	15: 59,323,874	Y333C	probably damaging	Het
Tacc2	T	A	7: 130,759,189	I2737N	probably damaging	Het
Tet3	A	T	6: 83,369,638	Y1272*	probably null	Het
Tnr	G	T	1: 159,897,024	R1095L	possibly damaging	Het
Vmn1r184	T	C	7: 26,267,437	S203P	probably damaging	Het
Vmn2r94	A	G	17: 18,257,039	L370P	probably damaging	Het
Xrcc5	A	G	1: 72,354,245	H559R	probably benign	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
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
R4753:Svep1	UTSW	4	58053212	missense	probably benign	0.06
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
X0063:Svep1	UTSW	4	58070468	nonsense	probably null

Posted On

2013-11-05