Mutagenetix > Incidental Mutation

Incidental Mutation 'R6187:Svep1'

502224

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

044327-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6187 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58042796-58206596 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58072872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 2146 (G2146R)

Ref Sequence

ENSEMBL: ENSMUSP00000045856 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000042850
AA Change: G2146R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045856
Gene: ENSMUSG00000028369
AA Change: G2146R

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (79/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,259,085 (GRCm39)	L2937H	probably damaging	Het
Abca3	A	G	17: 24,627,141 (GRCm39)	I1281V	possibly damaging	Het
Adam2	A	T	14: 66,306,068 (GRCm39)	S138T	possibly damaging	Het
Adamts4	C	T	1: 171,078,562 (GRCm39)	P61S	probably damaging	Het
Adamts6	C	T	13: 104,433,933 (GRCm39)	P121S	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ak1	G	A	2: 32,523,489 (GRCm39)	V186M	probably damaging	Het
Alpk1	T	C	3: 127,466,991 (GRCm39)	Y1096C	probably damaging	Het
Ankrd29	A	C	18: 12,412,747 (GRCm39)	Y73*	probably null	Het
Asah2	A	T	19: 32,002,267 (GRCm39)	S292R	probably damaging	Het
Atp6v1b1	A	T	6: 83,729,377 (GRCm39)	T105S	probably damaging	Het
Axdnd1	T	A	1: 156,193,182 (GRCm39)		probably null	Het
Bub1b	T	G	2: 118,461,481 (GRCm39)	S678A	probably damaging	Het
Cdcp3	G	A	7: 130,872,328 (GRCm39)		probably benign	Het
Cenpq	T	A	17: 41,238,089 (GRCm39)	M142L	probably benign	Het
Ciz1	T	A	2: 32,260,063 (GRCm39)	V203E	possibly damaging	Het
Cmklr2	T	C	1: 63,222,434 (GRCm39)	E267G	probably damaging	Het
Col2a1	G	T	15: 97,886,671 (GRCm39)	T378N	unknown	Het
Cyp2c68	A	T	19: 39,729,452 (GRCm39)	S12T	probably benign	Het
Cyp4f18	C	A	8: 72,747,030 (GRCm39)	A322S	probably damaging	Het
Disp2	A	G	2: 118,622,624 (GRCm39)	S1119G	probably damaging	Het
Eif2ak4	C	T	2: 118,287,638 (GRCm39)	T1081M	probably damaging	Het
Faxc	A	G	4: 21,958,445 (GRCm39)	T201A	possibly damaging	Het
Fbxw14	A	G	9: 109,105,332 (GRCm39)	S278P	probably damaging	Het
Fpr1	G	T	17: 18,097,190 (GRCm39)	C266*	probably null	Het
Fsip2	T	C	2: 82,812,798 (GRCm39)	I3039T	probably benign	Het
Gas1	G	T	13: 60,324,186 (GRCm39)	S190R	possibly damaging	Het
Gemin2	A	G	12: 59,060,371 (GRCm39)	T37A	probably damaging	Het
Gm21370	T	C	13: 120,488,403 (GRCm39)	I49V	probably benign	Het
Gm8444	T	C	15: 81,727,807 (GRCm39)		probably benign	Het
Gria1	A	G	11: 57,128,936 (GRCm39)	D401G	possibly damaging	Het
Gstk1	G	A	6: 42,226,794 (GRCm39)	V187I	possibly damaging	Het
Hmcn1	T	C	1: 150,506,479 (GRCm39)	D3776G	probably damaging	Het
Itfg1	A	C	8: 86,563,094 (GRCm39)	V102G	probably damaging	Het
Kidins220	A	G	12: 25,101,307 (GRCm39)		probably null	Het
Kif13b	A	C	14: 64,973,664 (GRCm39)	D338A	probably damaging	Het
Mab21l2	T	C	3: 86,454,565 (GRCm39)	Y145C	probably damaging	Het
Magel2	A	G	7: 62,027,389 (GRCm39)	M98V	unknown	Het
Mdfic	T	C	6: 15,721,196 (GRCm39)		probably benign	Het
Minar1	A	G	9: 89,473,220 (GRCm39)	I897T	probably damaging	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mycbp2	A	G	14: 103,384,453 (GRCm39)	L3475P	probably damaging	Het
Myh14	G	A	7: 44,276,457 (GRCm39)	T1216I	probably damaging	Het
Nfatc2	T	A	2: 168,322,158 (GRCm39)	I914F	probably benign	Het
Nup58	T	C	14: 60,478,256 (GRCm39)		probably null	Het
Or10ag53	T	A	2: 87,083,042 (GRCm39)	S254T	probably damaging	Het
Or10al4	T	C	17: 38,037,032 (GRCm39)	L48P	probably damaging	Het
Or13a22	A	G	7: 140,072,529 (GRCm39)		probably benign	Het
Or2y13	G	T	11: 49,414,338 (GRCm39)		probably benign	Het
Or4l15	A	G	14: 50,198,526 (GRCm39)	M1T	probably null	Het
Or5p50	A	T	7: 107,421,781 (GRCm39)	N298K	probably benign	Het
Or7g20	A	C	9: 18,946,689 (GRCm39)	Q90P	probably benign	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Oxr1	A	G	15: 41,689,315 (GRCm39)	Q513R	probably damaging	Het
Padi1	C	T	4: 140,554,276 (GRCm39)	V310M	probably damaging	Het
Pard3	T	C	8: 127,800,023 (GRCm39)	L11S	probably benign	Het
Pcdhb14	A	T	18: 37,581,497 (GRCm39)	D201V	probably damaging	Het
Pcdhb7	A	G	18: 37,475,622 (GRCm39)	R253G	probably benign	Het
Plxnb2	C	T	15: 89,051,461 (GRCm39)	D253N	probably damaging	Het
Ppp2cb	T	C	8: 34,105,502 (GRCm39)	S171P	probably damaging	Het
Prr5	C	T	15: 84,577,973 (GRCm39)	T94M	probably damaging	Het
Rp1	A	G	1: 4,420,092 (GRCm39)	F340S	probably damaging	Het
Rpa1	C	G	11: 75,201,062 (GRCm39)	G433A	probably benign	Het
Smg1	A	T	7: 117,788,386 (GRCm39)		probably benign	Het
Sry	C	G	Y: 2,662,975 (GRCm39)	Q228H	unknown	Homo
Tas2r106	A	G	6: 131,655,173 (GRCm39)	M226T	probably damaging	Het
Tbk1	T	C	10: 121,420,148 (GRCm39)	I14V	probably benign	Het
Tekt4	G	C	17: 25,691,197 (GRCm39)	V168L	probably damaging	Het
Tnfaip1	T	A	11: 78,418,372 (GRCm39)	T232S	probably damaging	Het
Trio	C	T	15: 27,744,038 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,774,781 (GRCm39)	Y2133F	unknown	Het
Uap1l1	C	T	2: 25,252,741 (GRCm39)	R433H	probably damaging	Het
Ugt2b35	T	C	5: 87,155,181 (GRCm39)	F339L	probably damaging	Het
Unc5b	T	C	10: 60,608,003 (GRCm39)	Y699C	probably damaging	Het
Vcpip1	T	C	1: 9,795,005 (GRCm39)	H1122R	probably damaging	Het
Vmn2r91	T	C	17: 18,326,888 (GRCm39)	V391A	probably benign	Het
Vps13c	C	T	9: 67,822,939 (GRCm39)	R1327W	probably damaging	Het
Yes1	A	G	5: 32,802,385 (GRCm39)	Y100C	probably damaging	Het
Zfp407	A	T	18: 84,577,134 (GRCm39)	N1326K	possibly damaging	Het
Zfp518a	G	A	19: 40,903,890 (GRCm39)	C1273Y	probably benign	Het
Zfr	AGCAGCAGCAGCAGCTGCTGCTGCAGCAGCA	AGCAGCAGCA	15: 12,146,317 (GRCm39)		probably benign	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
R0147:Svep1	UTSW	4	58,116,608 (GRCm39)	missense	possibly damaging	0.85
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
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'- AACCTTAGGTGGCTCGTTAC -3'
(R):5'- GCTGCATAGCTCACTTCTGTG -3'

Sequencing Primer
(F):5'- CTTAGGTGGCTCGTTACAGGACAC -3'
(R):5'- TTCTGTGAAAAACCCCCATCTG -3'

Posted On

2018-02-27