Mutagenetix > Incidental Mutation

Incidental Mutation 'R0147:Svep1'

60821

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

1110021D17Rik, Polydom, D430029O09Rik, 4833413O10Rik

MMRRC Submission

038431-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0147 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58042796-58206596 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58116608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 881 (D881N)

Ref Sequence

ENSEMBL: ENSMUSP00000045856 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042850
AA Change: D881N

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045856
Gene: ENSMUSG00000028369
AA Change: D881N

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

0.1235

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 94.5%
20x: 86.1%

Validation Efficiency

67% (88/131)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,639,405 (GRCm39)		probably null	Het
Abtb2	A	G	2: 103,397,480 (GRCm39)	I137V	probably benign	Het
Ank1	T	A	8: 23,613,993 (GRCm39)	N1545K	probably damaging	Het
Arl6	T	C	16: 59,439,153 (GRCm39)		probably benign	Het
Avl9	T	A	6: 56,713,487 (GRCm39)	D248E	probably benign	Het
Becn1	T	C	11: 101,192,562 (GRCm39)	E40G	probably damaging	Het
Bod1l	G	T	5: 41,976,040 (GRCm39)	A1758E	possibly damaging	Het
Btbd16	C	T	7: 130,381,324 (GRCm39)	T19I	probably damaging	Het
Casc3	T	A	11: 98,713,325 (GRCm39)	N246K	possibly damaging	Het
Celf1	G	T	2: 90,835,035 (GRCm39)		probably benign	Het
Chrm3	G	T	13: 9,928,780 (GRCm39)	N85K	probably damaging	Het
Cluh	T	A	11: 74,556,764 (GRCm39)	Y935N	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,802,993 (GRCm39)	D1324G	unknown	Het
Ctcfl	T	C	2: 172,960,340 (GRCm39)	D81G	possibly damaging	Het
D630003M21Rik	C	T	2: 158,044,987 (GRCm39)		probably benign	Het
Ddx39a	C	T	8: 84,449,105 (GRCm39)	R298C	possibly damaging	Het
Dnmt3b	T	G	2: 153,503,377 (GRCm39)	N9K	possibly damaging	Het
Dock8	T	C	19: 25,096,823 (GRCm39)	L577P	probably benign	Het
Drc1	A	T	5: 30,486,487 (GRCm39)	N13I	possibly damaging	Het
Eml4	T	A	17: 83,729,081 (GRCm39)	N85K	probably damaging	Het
Epb41l4a	T	C	18: 33,931,853 (GRCm39)	T581A	probably damaging	Het
Epha3	T	C	16: 63,433,307 (GRCm39)	D446G	possibly damaging	Het
Fam209	G	T	2: 172,315,900 (GRCm39)	G92C	probably damaging	Het
Fam98c	T	A	7: 28,852,146 (GRCm39)	R340*	probably null	Het
Fbxw10	T	G	11: 62,738,307 (GRCm39)		probably null	Het
Galr1	A	G	18: 82,423,695 (GRCm39)	L194P	probably benign	Het
Gar1	T	C	3: 129,623,122 (GRCm39)	H89R	probably damaging	Het
Gbp4	T	A	5: 105,267,362 (GRCm39)	Y519F	probably benign	Het
Gm28042	T	A	2: 119,866,944 (GRCm39)	S196T	probably benign	Het
Grid2	T	C	6: 64,510,571 (GRCm39)	Y734H	probably benign	Het
Grm6	T	A	11: 50,750,144 (GRCm39)	I466N	possibly damaging	Het
Hectd3	T	C	4: 116,854,237 (GRCm39)		probably benign	Het
Hpse2	A	C	19: 42,920,099 (GRCm39)		probably null	Het
Hspb7	T	C	4: 141,151,302 (GRCm39)	I148T	probably damaging	Het
Htr1d	C	A	4: 136,170,788 (GRCm39)	T339K	probably damaging	Het
Ip6k1	T	A	9: 107,923,093 (GRCm39)	D408E	probably damaging	Het
Irs2	A	T	8: 11,057,568 (GRCm39)	M288K	probably damaging	Het
Kansl3	A	T	1: 36,392,897 (GRCm39)	C225S	probably damaging	Het
Knop1	C	A	7: 118,445,061 (GRCm39)	R301L	probably benign	Het
Lama5	T	C	2: 179,832,199 (GRCm39)	H1714R	probably benign	Het
Mettl14	G	A	3: 123,165,043 (GRCm39)	T316I	probably damaging	Het
Mmp15	A	T	8: 96,098,945 (GRCm39)	N591Y	probably benign	Het
Mprip	T	A	11: 59,627,899 (GRCm39)	D93E	possibly damaging	Het
Mtmr14	T	A	6: 113,237,627 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,364,776 (GRCm39)	S1917P	probably benign	Het
Muc6	C	T	7: 141,238,255 (GRCm39)	C75Y	probably damaging	Het
Naip1	A	T	13: 100,563,418 (GRCm39)	H582Q	possibly damaging	Het
Nbeal2	G	A	9: 110,471,211 (GRCm39)	R264*	probably null	Het
Neb	T	C	2: 52,139,388 (GRCm39)	K140E	probably damaging	Het
Nfya	A	G	17: 48,706,026 (GRCm39)	V48A	possibly damaging	Het
Ngf	G	T	3: 102,417,119 (GRCm39)		probably benign	Het
Nsmce2	T	G	15: 59,250,806 (GRCm39)	S26A	probably damaging	Het
Or52s19	T	C	7: 103,007,613 (GRCm39)	T263A	possibly damaging	Het
Or5m13b	T	A	2: 85,754,362 (GRCm39)	I250N	possibly damaging	Het
Or7e177	T	G	9: 20,212,387 (GRCm39)	M297R	probably damaging	Het
Pax1	A	G	2: 147,215,654 (GRCm39)	S424G	probably benign	Het
Pcdhb19	A	T	18: 37,630,235 (GRCm39)	Q10L	probably benign	Het
Pdcl	T	C	2: 37,242,142 (GRCm39)	I203V	probably benign	Het
Pknox1	T	A	17: 31,823,764 (GRCm39)	N379K	probably benign	Het
Plxna1	C	T	6: 89,297,692 (GRCm39)	A1831T	possibly damaging	Het
Prodh	T	G	16: 17,895,677 (GRCm39)	Q360P	probably damaging	Het
Pygo2	T	C	3: 89,340,610 (GRCm39)	V299A	probably damaging	Het
Raf1	C	T	6: 115,609,934 (GRCm39)	G202S	probably benign	Het
Rgs11	T	A	17: 26,426,433 (GRCm39)		probably null	Het
Rmc1	C	T	18: 12,322,328 (GRCm39)	R594C	probably damaging	Het
Rnf13	A	G	3: 57,709,889 (GRCm39)	D144G	probably damaging	Het
Rtel1	T	C	2: 180,962,839 (GRCm39)	C31R	probably damaging	Het
Rubcnl	T	A	14: 75,279,898 (GRCm39)	I427K	probably damaging	Het
Sec23ip	C	T	7: 128,380,775 (GRCm39)		probably benign	Het
Slc25a26	T	A	6: 94,569,507 (GRCm39)		probably null	Het
Slc6a7	A	G	18: 61,135,183 (GRCm39)		probably benign	Het
Slco6b1	A	T	1: 96,915,562 (GRCm39)		noncoding transcript	Het
Spata17	A	G	1: 186,844,798 (GRCm39)	V111A	probably damaging	Het
Spata22	T	A	11: 73,221,979 (GRCm39)	M1K	probably null	Het
Sypl2	T	A	3: 108,126,411 (GRCm39)	N67I	possibly damaging	Het
Tasor	A	G	14: 27,193,725 (GRCm39)	D975G	probably benign	Het
Tenm3	T	C	8: 48,689,755 (GRCm39)	Y1944C	probably damaging	Het
Tm9sf4	G	T	2: 153,037,233 (GRCm39)	V365L	probably benign	Het
Tmc3	T	C	7: 83,256,950 (GRCm39)	V401A	probably damaging	Het
Trpm2	C	T	10: 77,761,659 (GRCm39)	G997D	probably damaging	Het
Unc5b	A	T	10: 60,608,076 (GRCm39)	S675T	probably damaging	Het
Vmn1r217	A	G	13: 23,298,107 (GRCm39)	M265T	probably benign	Het
Vps54	T	A	11: 21,250,259 (GRCm39)	D548E	probably benign	Het
Wdfy3	A	G	5: 102,065,277 (GRCm39)	V1297A	probably benign	Het
Wdr46	T	A	17: 34,159,997 (GRCm39)	F70I	probably benign	Het
Zdbf2	C	T	1: 63,343,165 (GRCm39)	Q515*	probably null	Het
Zfp710	T	A	7: 79,731,721 (GRCm39)	C299*	probably null	Het

Other mutations in Svep1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Svep1	APN	4	58,176,077 (GRCm39)	missense	probably damaging	0.98
IGL00489:Svep1	APN	4	58,068,988 (GRCm39)	missense	possibly damaging	0.71
IGL00496:Svep1	APN	4	58,069,001 (GRCm39)	missense	possibly damaging	0.95
IGL00864:Svep1	APN	4	58,068,533 (GRCm39)	nonsense	probably null
IGL00904:Svep1	APN	4	58,097,398 (GRCm39)	missense	probably benign	0.00
IGL00935:Svep1	APN	4	58,090,664 (GRCm39)	missense	possibly damaging	0.71
IGL00963:Svep1	APN	4	58,072,791 (GRCm39)	nonsense	probably null
IGL01077:Svep1	APN	4	58,068,760 (GRCm39)	missense	possibly damaging	0.71
IGL01084:Svep1	APN	4	58,111,419 (GRCm39)	missense	possibly damaging	0.71
IGL01150:Svep1	APN	4	58,070,302 (GRCm39)	missense	probably benign	0.04
IGL01161:Svep1	APN	4	58,146,569 (GRCm39)	missense	probably damaging	0.96
IGL01360:Svep1	APN	4	58,116,554 (GRCm39)	missense	possibly damaging	0.73
IGL01365:Svep1	APN	4	58,100,878 (GRCm39)	critical splice acceptor site	probably null
IGL01396:Svep1	APN	4	58,068,552 (GRCm39)	missense	possibly damaging	0.85
IGL01601:Svep1	APN	4	58,084,872 (GRCm39)	missense	probably damaging	1.00
IGL01636:Svep1	APN	4	58,116,622 (GRCm39)	missense	possibly damaging	0.96
IGL01838:Svep1	APN	4	58,121,910 (GRCm39)	missense	possibly damaging	0.72
IGL01949:Svep1	APN	4	58,176,006 (GRCm39)	missense	probably damaging	1.00
IGL01984:Svep1	APN	4	58,068,877 (GRCm39)	missense	possibly damaging	0.93
IGL02005:Svep1	APN	4	58,069,056 (GRCm39)	missense	possibly damaging	0.93
IGL02036:Svep1	APN	4	58,088,245 (GRCm39)	missense	possibly damaging	0.85
IGL02039:Svep1	APN	4	58,123,980 (GRCm39)	critical splice donor site	probably null
IGL02043:Svep1	APN	4	58,068,556 (GRCm39)	missense	probably benign	0.19
IGL02073:Svep1	APN	4	58,070,104 (GRCm39)	missense	probably benign	0.06
IGL02188:Svep1	APN	4	58,068,382 (GRCm39)	missense	possibly damaging	0.71
IGL02256:Svep1	APN	4	58,070,311 (GRCm39)	missense	possibly damaging	0.71
IGL02284:Svep1	APN	4	58,072,819 (GRCm39)	missense	probably benign	0.32
IGL02323:Svep1	APN	4	58,070,236 (GRCm39)	nonsense	probably null
IGL02440:Svep1	APN	4	58,145,293 (GRCm39)	missense	probably benign	0.06
IGL02449:Svep1	APN	4	58,070,296 (GRCm39)	missense	possibly damaging	0.71
IGL02501:Svep1	APN	4	58,145,341 (GRCm39)	splice site	probably benign
IGL02568:Svep1	APN	4	58,135,441 (GRCm39)	missense	probably benign	0.42
IGL02625:Svep1	APN	4	58,115,807 (GRCm39)	missense	possibly damaging	0.53
IGL02795:Svep1	APN	4	58,123,223 (GRCm39)	missense	probably damaging	1.00
IGL02818:Svep1	APN	4	58,069,804 (GRCm39)	missense	possibly damaging	0.71
IGL02871:Svep1	APN	4	58,100,871 (GRCm39)	missense	probably benign
IGL02875:Svep1	APN	4	58,082,821 (GRCm39)	splice site	probably benign
IGL02887:Svep1	APN	4	58,145,301 (GRCm39)	missense	probably damaging	1.00
IGL03240:Svep1	APN	4	58,048,188 (GRCm39)	missense	possibly damaging	0.73
IGL03243:Svep1	APN	4	58,133,387 (GRCm39)	missense	probably benign	0.06
IGL03264:Svep1	APN	4	58,066,422 (GRCm39)	splice site	probably benign
IGL03288:Svep1	APN	4	58,116,532 (GRCm39)	missense	probably benign	0.01
IGL03340:Svep1	APN	4	58,111,451 (GRCm39)	missense	possibly damaging	0.96
IGL03341:Svep1	APN	4	58,070,308 (GRCm39)	nonsense	probably null
IGL03348:Svep1	APN	4	58,113,635 (GRCm39)	missense	probably damaging	1.00
R0001:Svep1	UTSW	4	58,066,460 (GRCm39)	missense	possibly damaging	0.93
R0042:Svep1	UTSW	4	58,123,192 (GRCm39)	missense	possibly damaging	0.92
R0042:Svep1	UTSW	4	58,123,192 (GRCm39)	missense	possibly damaging	0.92
R0125:Svep1	UTSW	4	58,099,937 (GRCm39)	splice site	probably benign
R0142:Svep1	UTSW	4	58,118,232 (GRCm39)	missense	probably benign	0.33
R0148:Svep1	UTSW	4	58,116,608 (GRCm39)	missense	possibly damaging	0.85
R0157:Svep1	UTSW	4	58,069,830 (GRCm39)	missense	possibly damaging	0.72
R0195:Svep1	UTSW	4	58,089,514 (GRCm39)	missense	possibly damaging	0.82
R0197:Svep1	UTSW	4	58,070,851 (GRCm39)	missense	possibly damaging	0.71
R0257:Svep1	UTSW	4	58,179,610 (GRCm39)	missense	possibly damaging	0.71
R0314:Svep1	UTSW	4	58,096,331 (GRCm39)	missense	possibly damaging	0.71
R0316:Svep1	UTSW	4	58,072,737 (GRCm39)	missense	probably damaging	0.98
R0322:Svep1	UTSW	4	58,057,996 (GRCm39)	splice site	probably benign
R0426:Svep1	UTSW	4	58,073,333 (GRCm39)	missense	possibly damaging	0.87
R0446:Svep1	UTSW	4	58,088,280 (GRCm39)	missense	probably damaging	1.00
R0457:Svep1	UTSW	4	58,118,136 (GRCm39)	missense	probably damaging	1.00
R0471:Svep1	UTSW	4	58,054,700 (GRCm39)	missense	possibly damaging	0.85
R0555:Svep1	UTSW	4	58,128,858 (GRCm39)	missense	possibly damaging	0.71
R0634:Svep1	UTSW	4	58,070,661 (GRCm39)	missense	possibly damaging	0.86
R0636:Svep1	UTSW	4	58,073,121 (GRCm39)	nonsense	probably null
R0827:Svep1	UTSW	4	58,053,113 (GRCm39)	splice site	probably benign
R1025:Svep1	UTSW	4	58,087,817 (GRCm39)	missense	possibly damaging	0.86
R1027:Svep1	UTSW	4	58,094,084 (GRCm39)	missense	possibly damaging	0.86
R1069:Svep1	UTSW	4	58,070,239 (GRCm39)	missense	probably damaging	1.00
R1161:Svep1	UTSW	4	58,069,416 (GRCm39)	missense	possibly damaging	0.71
R1245:Svep1	UTSW	4	58,066,427 (GRCm39)	critical splice donor site	probably null
R1282:Svep1	UTSW	4	58,100,032 (GRCm39)	missense	possibly damaging	0.93
R1310:Svep1	UTSW	4	58,069,416 (GRCm39)	missense	possibly damaging	0.71
R1444:Svep1	UTSW	4	58,115,754 (GRCm39)	missense	possibly damaging	0.53
R1460:Svep1	UTSW	4	58,068,740 (GRCm39)	missense	possibly damaging	0.85
R1500:Svep1	UTSW	4	58,070,239 (GRCm39)	missense	probably damaging	1.00
R1628:Svep1	UTSW	4	58,107,561 (GRCm39)	missense	probably benign	0.00
R1712:Svep1	UTSW	4	58,070,629 (GRCm39)	missense	probably benign	0.06
R1774:Svep1	UTSW	4	58,146,562 (GRCm39)	missense	possibly damaging	0.92
R1783:Svep1	UTSW	4	58,073,333 (GRCm39)	missense	probably benign
R1829:Svep1	UTSW	4	58,096,310 (GRCm39)	missense	possibly damaging	0.93
R1978:Svep1	UTSW	4	58,097,292 (GRCm39)	missense	possibly damaging	0.73
R1993:Svep1	UTSW	4	58,064,170 (GRCm39)	critical splice donor site	probably null
R2017:Svep1	UTSW	4	58,070,568 (GRCm39)	missense	probably benign	0.08
R2058:Svep1	UTSW	4	58,084,554 (GRCm39)	missense	possibly damaging	0.92
R2109:Svep1	UTSW	4	58,206,030 (GRCm39)	missense	possibly damaging	0.51
R2215:Svep1	UTSW	4	58,138,602 (GRCm39)	splice site	probably benign
R2281:Svep1	UTSW	4	58,082,677 (GRCm39)	missense	possibly damaging	0.85
R2504:Svep1	UTSW	4	58,135,628 (GRCm39)	splice site	probably null
R2763:Svep1	UTSW	4	58,084,061 (GRCm39)	missense	possibly damaging	0.86
R3122:Svep1	UTSW	4	58,087,845 (GRCm39)	missense	possibly damaging	0.51
R3605:Svep1	UTSW	4	58,066,542 (GRCm39)	missense	probably benign	0.32
R3763:Svep1	UTSW	4	58,084,833 (GRCm39)	missense	possibly damaging	0.89
R3827:Svep1	UTSW	4	58,096,177 (GRCm39)	missense	probably damaging	0.98
R3829:Svep1	UTSW	4	58,096,177 (GRCm39)	missense	probably damaging	0.98
R3830:Svep1	UTSW	4	58,096,177 (GRCm39)	missense	probably damaging	0.98
R3910:Svep1	UTSW	4	58,145,156 (GRCm39)	critical splice donor site	probably null
R3943:Svep1	UTSW	4	58,084,807 (GRCm39)	splice site	probably null
R3944:Svep1	UTSW	4	58,084,807 (GRCm39)	splice site	probably null
R4153:Svep1	UTSW	4	58,089,426 (GRCm39)	missense	possibly damaging	0.52
R4154:Svep1	UTSW	4	58,069,068 (GRCm39)	missense	possibly damaging	0.71
R4191:Svep1	UTSW	4	58,046,601 (GRCm39)	missense	possibly damaging	0.86
R4355:Svep1	UTSW	4	58,138,695 (GRCm39)	missense	possibly damaging	0.71
R4388:Svep1	UTSW	4	58,069,249 (GRCm39)	missense	possibly damaging	0.93
R4532:Svep1	UTSW	4	58,068,886 (GRCm39)	missense	possibly damaging	0.52
R4584:Svep1	UTSW	4	58,068,526 (GRCm39)	nonsense	probably null
R4592:Svep1	UTSW	4	58,084,028 (GRCm39)	missense	possibly damaging	0.93
R4593:Svep1	UTSW	4	58,091,944 (GRCm39)	missense	possibly damaging	0.71
R4625:Svep1	UTSW	4	58,072,698 (GRCm39)	missense	probably damaging	0.98
R4639:Svep1	UTSW	4	58,082,724 (GRCm39)	missense	probably benign
R4700:Svep1	UTSW	4	58,097,323 (GRCm39)	missense	possibly damaging	0.71
R4720:Svep1	UTSW	4	58,205,869 (GRCm39)	missense	possibly damaging	0.71
R4724:Svep1	UTSW	4	58,070,752 (GRCm39)	missense	possibly damaging	0.71
R4753:Svep1	UTSW	4	58,053,212 (GRCm39)	missense	probably benign	0.06
R4781:Svep1	UTSW	4	58,070,340 (GRCm39)	missense	probably damaging	0.98
R4820:Svep1	UTSW	4	58,082,664 (GRCm39)	missense	probably benign	0.27
R4896:Svep1	UTSW	4	58,087,751 (GRCm39)	missense	probably benign	0.08
R4905:Svep1	UTSW	4	58,069,308 (GRCm39)	missense	probably benign	0.00
R4910:Svep1	UTSW	4	58,096,276 (GRCm39)	missense	possibly damaging	0.71
R4972:Svep1	UTSW	4	58,087,778 (GRCm39)	missense	possibly damaging	0.71
R5004:Svep1	UTSW	4	58,087,751 (GRCm39)	missense	probably benign	0.08
R5088:Svep1	UTSW	4	58,120,648 (GRCm39)	missense	possibly damaging	0.73
R5112:Svep1	UTSW	4	58,068,610 (GRCm39)	nonsense	probably null
R5185:Svep1	UTSW	4	58,084,534 (GRCm39)	missense	probably damaging	0.99
R5302:Svep1	UTSW	4	58,096,183 (GRCm39)	missense	possibly damaging	0.71
R5307:Svep1	UTSW	4	58,072,677 (GRCm39)	missense	possibly damaging	0.71
R5339:Svep1	UTSW	4	58,121,892 (GRCm39)	missense	possibly damaging	0.96
R5379:Svep1	UTSW	4	58,072,991 (GRCm39)	missense	possibly damaging	0.51
R5384:Svep1	UTSW	4	58,104,545 (GRCm39)	missense	possibly damaging	0.71
R5414:Svep1	UTSW	4	58,206,322 (GRCm39)	missense	possibly damaging	0.53
R5514:Svep1	UTSW	4	58,044,054 (GRCm39)	missense	possibly damaging	0.53
R5538:Svep1	UTSW	4	58,049,282 (GRCm39)	critical splice acceptor site	probably null
R5549:Svep1	UTSW	4	58,057,954 (GRCm39)	missense	probably benign	0.32
R5618:Svep1	UTSW	4	58,070,537 (GRCm39)	missense	probably benign
R5623:Svep1	UTSW	4	58,091,964 (GRCm39)	missense	possibly damaging	0.92
R5686:Svep1	UTSW	4	58,072,826 (GRCm39)	missense	possibly damaging	0.71
R5743:Svep1	UTSW	4	58,096,223 (GRCm39)	missense	possibly damaging	0.71
R5773:Svep1	UTSW	4	58,099,985 (GRCm39)	missense	possibly damaging	0.86
R5809:Svep1	UTSW	4	58,116,524 (GRCm39)	missense	possibly damaging	0.73
R5896:Svep1	UTSW	4	58,084,906 (GRCm39)	missense	possibly damaging	0.71
R5918:Svep1	UTSW	4	58,069,345 (GRCm39)	missense	possibly damaging	0.71
R5969:Svep1	UTSW	4	58,070,977 (GRCm39)	nonsense	probably null
R6010:Svep1	UTSW	4	58,115,832 (GRCm39)	missense	possibly damaging	0.95
R6187:Svep1	UTSW	4	58,072,872 (GRCm39)	missense	probably damaging	1.00
R6192:Svep1	UTSW	4	58,104,536 (GRCm39)	missense	possibly damaging	0.92
R6209:Svep1	UTSW	4	58,128,869 (GRCm39)	missense	probably benign	0.32
R6234:Svep1	UTSW	4	58,113,458 (GRCm39)	splice site	probably null
R6326:Svep1	UTSW	4	58,073,045 (GRCm39)	missense	possibly damaging	0.51
R6400:Svep1	UTSW	4	58,049,169 (GRCm39)	missense	probably damaging	1.00
R6418:Svep1	UTSW	4	58,053,126 (GRCm39)	missense	probably benign	0.01
R6440:Svep1	UTSW	4	58,116,555 (GRCm39)	missense	possibly damaging	0.53
R6489:Svep1	UTSW	4	58,100,066 (GRCm39)	missense	probably damaging	1.00
R6515:Svep1	UTSW	4	58,088,280 (GRCm39)	missense	probably damaging	1.00
R6738:Svep1	UTSW	4	58,123,180 (GRCm39)	missense	possibly damaging	0.71
R6773:Svep1	UTSW	4	58,049,146 (GRCm39)	missense	possibly damaging	0.71
R6796:Svep1	UTSW	4	58,064,275 (GRCm39)	missense	probably benign	0.01
R7055:Svep1	UTSW	4	58,120,642 (GRCm39)	missense	probably benign	0.33
R7055:Svep1	UTSW	4	58,064,275 (GRCm39)	missense	probably benign	0.19
R7111:Svep1	UTSW	4	58,118,207 (GRCm39)	missense	possibly damaging	0.70
R7161:Svep1	UTSW	4	58,128,859 (GRCm39)	missense	possibly damaging	0.93
R7162:Svep1	UTSW	4	58,070,262 (GRCm39)	missense	possibly damaging	0.71
R7182:Svep1	UTSW	4	58,043,991 (GRCm39)	missense	probably benign	0.18
R7292:Svep1	UTSW	4	58,111,395 (GRCm39)	missense	possibly damaging	0.71
R7299:Svep1	UTSW	4	58,046,587 (GRCm39)	nonsense	probably null
R7301:Svep1	UTSW	4	58,046,587 (GRCm39)	nonsense	probably null
R7316:Svep1	UTSW	4	58,068,763 (GRCm39)	missense	possibly damaging	0.71
R7337:Svep1	UTSW	4	58,108,323 (GRCm39)	missense	probably damaging	0.98
R7391:Svep1	UTSW	4	58,145,185 (GRCm39)	missense	probably damaging	0.98
R7402:Svep1	UTSW	4	58,069,699 (GRCm39)	missense	possibly damaging	0.71
R7445:Svep1	UTSW	4	58,094,122 (GRCm39)	missense	possibly damaging	0.85
R7450:Svep1	UTSW	4	58,064,248 (GRCm39)	missense	possibly damaging	0.71
R7492:Svep1	UTSW	4	58,066,468 (GRCm39)	missense	possibly damaging	0.51
R7505:Svep1	UTSW	4	58,115,862 (GRCm39)	missense	possibly damaging	0.53
R7509:Svep1	UTSW	4	58,090,683 (GRCm39)	missense	probably benign	0.40
R7538:Svep1	UTSW	4	58,053,260 (GRCm39)	missense	possibly damaging	0.71
R7555:Svep1	UTSW	4	58,069,422 (GRCm39)	missense	probably damaging	0.98
R7660:Svep1	UTSW	4	58,087,782 (GRCm39)	missense	probably benign	0.32
R7670:Svep1	UTSW	4	58,097,424 (GRCm39)	missense	probably damaging	1.00
R7719:Svep1	UTSW	4	58,068,523 (GRCm39)	missense	probably damaging	0.97
R7733:Svep1	UTSW	4	58,049,239 (GRCm39)	missense	probably benign	0.03
R7781:Svep1	UTSW	4	58,069,251 (GRCm39)	missense	possibly damaging	0.71
R7821:Svep1	UTSW	4	58,179,601 (GRCm39)	missense	probably damaging	0.99
R7832:Svep1	UTSW	4	58,054,539 (GRCm39)	missense	probably benign	0.44
R8017:Svep1	UTSW	4	58,146,637 (GRCm39)	missense	probably damaging	0.99
R8019:Svep1	UTSW	4	58,146,637 (GRCm39)	missense	probably damaging	0.99
R8066:Svep1	UTSW	4	58,113,650 (GRCm39)	missense	probably benign	0.33
R8159:Svep1	UTSW	4	58,087,815 (GRCm39)	missense	probably benign	0.01
R8159:Svep1	UTSW	4	58,069,396 (GRCm39)	missense	possibly damaging	0.71
R8170:Svep1	UTSW	4	58,069,378 (GRCm39)	missense	probably benign	0.00
R8246:Svep1	UTSW	4	58,091,889 (GRCm39)	missense	probably damaging	0.96
R8392:Svep1	UTSW	4	58,070,566 (GRCm39)	missense	possibly damaging	0.71
R8436:Svep1	UTSW	4	58,044,053 (GRCm39)	missense	possibly damaging	0.86
R8544:Svep1	UTSW	4	58,206,025 (GRCm39)	missense	probably benign	0.00
R8669:Svep1	UTSW	4	58,070,119 (GRCm39)	missense	possibly damaging	0.95
R8707:Svep1	UTSW	4	58,070,197 (GRCm39)	nonsense	probably null
R8790:Svep1	UTSW	4	58,118,145 (GRCm39)	missense	possibly damaging	0.53
R8804:Svep1	UTSW	4	58,206,043 (GRCm39)	missense	possibly damaging	0.86
R8868:Svep1	UTSW	4	58,135,578 (GRCm39)	missense	possibly damaging	0.77
R8880:Svep1	UTSW	4	58,064,204 (GRCm39)	missense	possibly damaging	0.51
R8949:Svep1	UTSW	4	58,054,604 (GRCm39)	missense	possibly damaging	0.85
R9007:Svep1	UTSW	4	58,091,915 (GRCm39)	missense	possibly damaging	0.86
R9028:Svep1	UTSW	4	58,145,199 (GRCm39)	missense	possibly damaging	0.92
R9131:Svep1	UTSW	4	58,087,778 (GRCm39)	missense	possibly damaging	0.71
R9285:Svep1	UTSW	4	58,084,809 (GRCm39)	critical splice donor site	probably null
R9302:Svep1	UTSW	4	58,120,565 (GRCm39)	missense	possibly damaging	0.53
R9314:Svep1	UTSW	4	58,070,347 (GRCm39)	missense	probably damaging	1.00
R9427:Svep1	UTSW	4	58,069,804 (GRCm39)	missense	possibly damaging	0.71
R9443:Svep1	UTSW	4	58,179,697 (GRCm39)	missense	possibly damaging	0.95
R9473:Svep1	UTSW	4	58,064,243 (GRCm39)	missense	probably benign	0.00
R9487:Svep1	UTSW	4	58,070,517 (GRCm39)	missense	probably benign
R9494:Svep1	UTSW	4	58,070,577 (GRCm39)	missense	possibly damaging	0.51
R9515:Svep1	UTSW	4	58,084,144 (GRCm39)	missense	possibly damaging	0.71
R9681:Svep1	UTSW	4	58,084,959 (GRCm39)	missense	probably damaging	0.98
X0063:Svep1	UTSW	4	58,070,468 (GRCm39)	nonsense	probably null
Z1176:Svep1	UTSW	4	58,133,415 (GRCm39)	missense	possibly damaging	0.51
Z1176:Svep1	UTSW	4	58,115,814 (GRCm39)	missense	possibly damaging	0.93
Z1176:Svep1	UTSW	4	58,111,386 (GRCm39)	missense	probably damaging	0.97
Z1177:Svep1	UTSW	4	58,206,300 (GRCm39)	missense	probably damaging	0.99
Z1177:Svep1	UTSW	4	58,115,841 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- AGCTTCCCAGCCCCAAATTTCG -3'
(R):5'- GCGTCAATCACAGTGGCATCAAGG -3'

Sequencing Primer
(F):5'- CGCCTCATATTGCTTTGTCAAATAG -3'
(R):5'- GCATCAAGGTCACTTTAGAAGTCAC -3'

Posted On

2013-07-24