Mutagenetix > Incidental Mutation

Incidental Mutation 'R8187:Svs5'

634908

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

067610-MU

Accession Numbers

Essential gene?

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

Stock #

R8187 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

164174685-164176314 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 164079692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 72 (Y72H)

Ref Sequence

ENSEMBL: ENSMUSP00000042389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044953] [ENSMUST00000109374]

AlphaFold

P30933

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044953
AA Change: Y72H

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000042389
Gene: ENSMUSG00000040132
AA Change: Y72H

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:SVS_QK	110	121	1.2e-6	PFAM
Pfam:SVS_QK	122	137	3.9e-3	PFAM
Pfam:SVS_QK	139	149	1.3e-5	PFAM
Pfam:SVS_QK	151	166	8.4e-4	PFAM
Pfam:SVS_QK	168	179	5.3e-6	PFAM
Pfam:SVS_QK	180	195	3.9e-3	PFAM
Pfam:SVS_QK	197	207	1.3e-5	PFAM
Pfam:SVS_QK	210	221	8.8e-5	PFAM
Pfam:SVS_QK	225	236	7.7e-6	PFAM
Pfam:SVS_QK	238	249	6.1e-6	PFAM
Pfam:SVS_QK	249	260	5.2e-4	PFAM
Pfam:SVS_QK	262	272	3.1e-5	PFAM
Pfam:SVS_QK	323	334	6.7e-5	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109374
AA Change: Y72H

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104999
Gene: ENSMUSG00000040132
AA Change: Y72H

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:SVS_QK	110	121	1.2e-6	PFAM
Pfam:SVS_QK	122	137	3.9e-3	PFAM
Pfam:SVS_QK	139	149	1.3e-5	PFAM
Pfam:SVS_QK	151	166	8.4e-4	PFAM
Pfam:SVS_QK	168	179	5.3e-6	PFAM
Pfam:SVS_QK	180	195	3.9e-3	PFAM
Pfam:SVS_QK	197	207	1.3e-5	PFAM
Pfam:SVS_QK	210	221	8.8e-5	PFAM
Pfam:SVS_QK	225	236	7.7e-6	PFAM
Pfam:SVS_QK	238	249	6.1e-6	PFAM
Pfam:SVS_QK	249	260	5.2e-4	PFAM
Pfam:SVS_QK	262	272	3.1e-5	PFAM
Pfam:SVS_QK	323	334	6.7e-5	PFAM

Coding Region Coverage

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

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	T	1: 120,115,913 (GRCm39)	*122L	probably null	Het
4930438A08Rik	A	G	11: 58,180,548 (GRCm39)	S200G		Het
Adgre1	T	A	17: 57,727,349 (GRCm39)	S426R	probably benign	Het
Adgrg1	A	G	8: 95,732,446 (GRCm39)	E229G	probably benign	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Arhgef39	A	T	4: 43,498,999 (GRCm39)	L84Q	probably damaging	Het
Bpifb9a	A	G	2: 154,111,377 (GRCm39)	I544V	probably benign	Het
Brwd1	A	T	16: 95,803,934 (GRCm39)	L2079I	probably damaging	Het
Ccnh	T	A	13: 85,337,656 (GRCm39)	M1K	probably null	Het
Cdh16	T	C	8: 105,344,870 (GRCm39)	N415S	probably damaging	Het
Chuk	T	C	19: 44,079,551 (GRCm39)	N317D	probably benign	Het
Cnot10	A	T	9: 114,426,556 (GRCm39)	C665*	probably null	Het
Csmd1	G	T	8: 16,177,188 (GRCm39)	H1358Q	probably damaging	Het
Cyp4f37	T	C	17: 32,854,171 (GRCm39)	V540A	probably benign	Het
Daam1	A	G	12: 71,942,602 (GRCm39)	D22G	unknown	Het
Dhdds	A	G	4: 133,727,679 (GRCm39)		probably benign	Het
Dnah5	T	C	15: 28,384,355 (GRCm39)	V3033A	probably damaging	Het
Dync1i2	A	G	2: 71,044,865 (GRCm39)	K25R	probably benign	Het
Efhc1	T	A	1: 21,030,396 (GRCm39)	S110T	probably damaging	Het
Emilin3	T	C	2: 160,750,000 (GRCm39)	N583S	possibly damaging	Het
Eri2	A	G	7: 119,384,767 (GRCm39)	V578A	probably damaging	Het
F2rl2	A	T	13: 95,837,911 (GRCm39)	I319L	probably benign	Het
Gjd3	A	C	11: 102,691,381 (GRCm39)	Y207*	probably null	Het
Gm19965	T	A	1: 116,749,532 (GRCm39)	C404*	probably null	Het
Gm2832	A	T	14: 41,000,915 (GRCm39)	H51L		Het
Gpam	T	C	19: 55,066,269 (GRCm39)	T631A	probably benign	Het
Hdac2	T	C	10: 36,864,132 (GRCm39)	S114P	probably damaging	Het
Hsd3b1	T	A	3: 98,759,933 (GRCm39)	T353S	probably damaging	Het
Idh1	T	C	1: 65,198,700 (GRCm39)	D390G	probably damaging	Het
Il36g	T	G	2: 24,082,617 (GRCm39)	L131V	probably damaging	Het
Irs1	G	T	1: 82,266,021 (GRCm39)	P732T	probably damaging	Het
Kansl1l	T	A	1: 66,840,896 (GRCm39)	I135F	possibly damaging	Het
Mcc	A	G	18: 44,667,327 (GRCm39)	V208A	possibly damaging	Het
Mgrn1	A	G	16: 4,738,229 (GRCm39)	N261S	probably benign	Het
Mybpc2	T	A	7: 44,161,894 (GRCm39)	N519Y	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nr1h5	G	T	3: 102,861,986 (GRCm39)	H94Q	probably benign	Het
Nsmce4a	A	G	7: 130,144,519 (GRCm39)	V128A	probably benign	Het
Or5w14	T	G	2: 87,541,624 (GRCm39)	S209R	probably benign	Het
Or6y1	TTGTGTG	TTGTG	1: 174,276,838 (GRCm39)		probably null	Het
Osmr	T	A	15: 6,850,485 (GRCm39)	Y707F	probably damaging	Het
Pck1	G	T	2: 172,997,033 (GRCm39)	R225L	probably benign	Het
Prom1	A	T	5: 44,191,708 (GRCm39)	L354Q	probably damaging	Het
Rev3l	C	A	10: 39,682,693 (GRCm39)	Q300K	probably benign	Het
Rin3	T	A	12: 102,292,066 (GRCm39)	C88S	unknown	Het
Slc37a4	T	C	9: 44,311,291 (GRCm39)	V194A	possibly damaging	Het
Smpd4	T	A	16: 17,446,999 (GRCm39)	H242Q	probably damaging	Het
Spen	T	C	4: 141,200,216 (GRCm39)	I2804V	possibly damaging	Het
Srrm4	A	C	5: 116,587,680 (GRCm39)	F359L	unknown	Het
Tmem158	T	A	9: 123,088,875 (GRCm39)	T246S	unknown	Het
Ttn	A	G	2: 76,633,735 (GRCm39)	V14038A	probably benign	Het
Ttn	A	G	2: 76,559,790 (GRCm39)	I29537T	probably damaging	Het
Ttn	A	G	2: 76,626,069 (GRCm39)	S14997P	probably damaging	Het
Vmn1r231	A	T	17: 21,110,893 (GRCm39)	D7E	probably benign	Het
Vmn2r14	A	G	5: 109,368,420 (GRCm39)	S191P	probably benign	Het
Zfp599	G	T	9: 22,161,111 (GRCm39)	Y351*	probably null	Het
Zfp729a	T	A	13: 67,769,918 (GRCm39)	K104*	probably null	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
R7338:Svs5	UTSW	2	164,174,728 (GRCm39)	missense	possibly damaging	0.96
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
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'- TGGGACACACTGGACTTCAC -3'
(R):5'- TTGGAAGGACTGTGCAGATTACG -3'

Sequencing Primer
(F):5'- GACTTCACTTGTCCAAAGGCTG -3'
(R):5'- GACTGTGCAGATTACGTAACTTAAAC -3'

Posted On

2020-07-13