Mutagenetix > Incidental Mutation

Incidental Mutation 'R7338:Svs5'

569631

Institutional Source

Beutler Lab

Gene Symbol

Svs5

Ensembl Gene

ENSMUSG00000017004

Gene Name

seminal vesicle secretory protein 5

Synonyms

seminal vesicle protein F, Svp-1, Svp1, SVS V, Svp5

MMRRC Submission

045428-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R7338 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

164174685-164176314 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 164174728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 8 (L8P)

Ref Sequence

ENSEMBL: ENSMUSP00000017148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017148]

AlphaFold

P30933

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017148
AA Change: L8P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000017148
Gene: ENSMUSG00000017004
AA Change: L8P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	45	51	N/A	INTRINSIC
low complexity region	72	92	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149370

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,595,717 (GRCm39)	S357P	possibly damaging	Het
Arhgap28	T	C	17: 68,203,106 (GRCm39)	R166G	probably damaging	Het
Bcan	T	A	3: 87,901,550 (GRCm39)	E384V	probably damaging	Het
Bcl9l	A	G	9: 44,420,005 (GRCm39)	N1137S	probably benign	Het
Caprin1	A	G	2: 103,609,768 (GRCm39)	L170S	probably benign	Het
Card6	C	T	15: 5,129,354 (GRCm39)	E681K	probably benign	Het
Catsperb	G	A	12: 101,447,243 (GRCm39)	V248I	probably benign	Het
Ccnj	T	A	19: 40,825,477 (GRCm39)	H62Q	probably damaging	Het
Cd180	A	C	13: 102,842,936 (GRCm39)	I661L	probably benign	Het
Cdk11b	A	G	4: 155,732,008 (GRCm39)	R473G	unknown	Het
Cep126	T	C	9: 8,099,799 (GRCm39)	T912A	possibly damaging	Het
Chek2	T	A	5: 111,021,380 (GRCm39)	V530E	probably benign	Het
Chga	G	T	12: 102,529,100 (GRCm39)	S359I	probably damaging	Het
Cnrip1	T	C	11: 17,004,657 (GRCm39)	V69A	probably damaging	Het
Cyp2a5	A	T	7: 26,542,372 (GRCm39)	Q458L	probably damaging	Het
Cyp2j11	T	A	4: 96,195,524 (GRCm39)	T391S	possibly damaging	Het
Dhx16	T	C	17: 36,199,036 (GRCm39)	L794P	probably damaging	Het
Dscaml1	A	G	9: 45,585,802 (GRCm39)	T580A	probably benign	Het
Elmo1	A	T	13: 20,464,982 (GRCm39)	I184L	probably benign	Het
Gabra1	C	T	11: 42,073,121 (GRCm39)	G51S	unknown	Het
Gabrr3	C	A	16: 59,268,439 (GRCm39)	L351I	possibly damaging	Het
Gbp7	A	T	3: 142,243,786 (GRCm39)	N111I	probably damaging	Het
Gjd2	C	T	2: 113,841,583 (GRCm39)	R298H	probably damaging	Het
Gm5930	T	C	14: 44,573,914 (GRCm39)	Y141C	probably damaging	Het
Grin3a	G	T	4: 49,771,238 (GRCm39)	N511K	probably benign	Het
Hdac7	T	C	15: 97,707,903 (GRCm39)	D122G	probably benign	Het
Ifi204	G	A	1: 173,587,703 (GRCm39)	T152I	possibly damaging	Het
Lrrc9	C	T	12: 72,510,305 (GRCm39)		probably null	Het
Med21	T	A	6: 146,544,082 (GRCm39)		probably benign	Het
Mmp19	A	T	10: 128,634,952 (GRCm39)	T523S	probably benign	Het
Nav3	G	A	10: 109,605,073 (GRCm39)	T1000I	probably benign	Het
Nherf2	T	A	17: 24,869,182 (GRCm39)		probably benign	Het
Nin	T	C	12: 70,090,838 (GRCm39)	D859G		Het
Nip7	T	G	8: 107,783,916 (GRCm39)	L52R	possibly damaging	Het
Or10d1c	A	G	9: 38,893,816 (GRCm39)	Y175H	probably damaging	Het
Or5al5	A	T	2: 85,961,726 (GRCm39)	F94I	probably damaging	Het
Or6b13	A	T	7: 139,782,446 (GRCm39)	V79E	probably benign	Het
Otop1	T	A	5: 38,457,547 (GRCm39)	Y435*	probably null	Het
Pak4	A	G	7: 28,264,381 (GRCm39)	S174P	probably benign	Het
Pcsk7	G	A	9: 45,837,287 (GRCm39)	R537Q	probably benign	Het
Podxl	G	A	6: 31,505,941 (GRCm39)	S34F	unknown	Het
Prr36	G	A	8: 4,266,212 (GRCm39)	R113C	probably damaging	Het
Ptk7	T	C	17: 46,890,525 (GRCm39)	I436V	probably benign	Het
Slc13a5	C	T	11: 72,157,310 (GRCm39)	V28I	probably benign	Het
Slco6d1	A	T	1: 98,349,097 (GRCm39)	D56V	probably benign	Het
Spg11	G	A	2: 121,885,858 (GRCm39)	R2317W	probably damaging	Het
Stom	T	A	2: 35,213,760 (GRCm39)		probably null	Het
Tmem141	C	A	2: 25,511,626 (GRCm39)	V39F	probably damaging	Het
Tmprss6	A	G	15: 78,344,019 (GRCm39)	L181P	probably damaging	Het
Tnni3	A	G	7: 4,524,379 (GRCm39)	S40P	probably benign	Het
Tubgcp4	A	G	2: 121,024,465 (GRCm39)	I548V	probably benign	Het
Twf2	A	G	9: 106,081,138 (GRCm39)		probably benign	Het
Wnt5b	C	A	6: 119,425,092 (GRCm39)		probably null	Het
Wrap73	A	G	4: 154,237,043 (GRCm39)	D210G	probably benign	Het
Yipf4	T	G	17: 74,796,771 (GRCm39)	S21A	probably benign	Het
Zscan20	A	G	4: 128,481,943 (GRCm39)	M573T	probably benign	Het

Other mutations in Svs5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Svs5	APN	2	164,078,962 (GRCm39)	missense	possibly damaging	0.86
IGL01722:Svs5	APN	2	164,079,446 (GRCm39)	missense	possibly damaging	0.71
IGL03189:Svs5	APN	2	164,079,032 (GRCm39)	missense	possibly damaging	0.73
IGL03378:Svs5	APN	2	164,175,260 (GRCm39)	missense	probably benign	0.00
R0781:Svs5	UTSW	2	164,175,507 (GRCm39)	missense	probably benign	0.16
R1110:Svs5	UTSW	2	164,175,507 (GRCm39)	missense	probably benign	0.16
R1276:Svs5	UTSW	2	164,079,168 (GRCm39)	missense	possibly damaging	0.95
R1541:Svs5	UTSW	2	164,078,929 (GRCm39)	missense	possibly damaging	0.71
R1590:Svs5	UTSW	2	164,079,578 (GRCm39)	missense	possibly damaging	0.86
R3103:Svs5	UTSW	2	164,175,313 (GRCm39)	missense	probably benign	0.00
R3946:Svs5	UTSW	2	164,079,047 (GRCm39)	missense	probably benign	0.01
R3965:Svs5	UTSW	2	164,079,662 (GRCm39)	missense	possibly damaging	0.53
R4075:Svs5	UTSW	2	164,079,238 (GRCm39)	missense	probably benign	0.01
R4632:Svs5	UTSW	2	164,079,667 (GRCm39)	missense	probably benign	0.40
R4732:Svs5	UTSW	2	164,079,043 (GRCm39)	missense	possibly damaging	0.87
R4733:Svs5	UTSW	2	164,079,043 (GRCm39)	missense	possibly damaging	0.87
R4839:Svs5	UTSW	2	164,078,806 (GRCm39)	missense	probably benign	0.40
R5706:Svs5	UTSW	2	164,079,589 (GRCm39)	missense	possibly damaging	0.53
R6936:Svs5	UTSW	2	164,079,548 (GRCm39)	missense	possibly damaging	0.86
R7052:Svs5	UTSW	2	164,080,126 (GRCm39)	missense	unknown
R7836:Svs5	UTSW	2	164,079,500 (GRCm39)	missense	possibly damaging	0.86
R8017:Svs5	UTSW	2	164,175,341 (GRCm39)	missense	possibly damaging	0.86
R8019:Svs5	UTSW	2	164,175,341 (GRCm39)	missense	possibly damaging	0.86
R8035:Svs5	UTSW	2	164,079,053 (GRCm39)	missense	probably benign	0.18
R8100:Svs5	UTSW	2	164,079,712 (GRCm39)	missense	probably benign	0.08
R8187:Svs5	UTSW	2	164,079,692 (GRCm39)	missense	possibly damaging	0.88
R8310:Svs5	UTSW	2	164,080,091 (GRCm39)	missense	probably damaging	1.00
R8312:Svs5	UTSW	2	164,080,091 (GRCm39)	missense	probably damaging	1.00
R9089:Svs5	UTSW	2	164,079,341 (GRCm39)	missense	probably benign	0.27
R9156:Svs5	UTSW	2	164,079,509 (GRCm39)	missense	probably benign	0.32
R9545:Svs5	UTSW	2	164,079,313 (GRCm39)	missense	possibly damaging	0.52
R9790:Svs5	UTSW	2	164,078,918 (GRCm39)	nonsense	probably null
R9791:Svs5	UTSW	2	164,078,918 (GRCm39)	nonsense	probably null
Z1176:Svs5	UTSW	2	164,174,711 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- GTACCAAGACTCCTACTGAGC -3'
(R):5'- AGCCCTCAACGATTTGCTACC -3'

Sequencing Primer
(F):5'- ACTCCTACTGAGCAGGGAG -3'
(R):5'- CACAAGTATTCAAGGTAAGGTTCTGG -3'

Posted On

2019-09-13