Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00848:Svs3b'

14313

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Svs3b

Ensembl Gene

ENSMUSG00000050383

Gene Name

seminal vesicle secretory protein 3B

Synonyms

SVS III, 9530004A22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL00848

Quality Score

Status

Chromosome

Chromosomal Location

164096283-164098560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 164098021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 100 (E100G)

Ref Sequence

ENSEMBL: ENSMUSP00000062011 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063132]

AlphaFold

Q8BZH8

Predicted Effect

probably damaging
Transcript: ENSMUST00000063132
AA Change: E100G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062011
Gene: ENSMUSG00000050383
AA Change: E100G

Domain	Start	End	E-Value	Type
Pfam:Semenogelin	1	146	7.4e-10	PFAM
low complexity region	210	225	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,370,237 (GRCm39)	F508L	probably damaging	Het
Adgra3	C	T	5: 50,159,291 (GRCm39)	G320R	probably damaging	Het
Arhgef40	G	A	14: 52,224,884 (GRCm39)	V10M	probably damaging	Het
Birc6	C	T	17: 75,003,388 (GRCm39)	Q4739*	probably null	Het
Cdcp3	A	G	7: 130,848,453 (GRCm39)	E869G	probably damaging	Het
Cdh20	C	T	1: 104,861,981 (GRCm39)	H54Y	probably benign	Het
Cep112	A	G	11: 108,362,886 (GRCm39)	D202G	probably damaging	Het
Cfhr2	T	A	1: 139,758,970 (GRCm39)	T27S	probably benign	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Copa	T	A	1: 171,938,255 (GRCm39)	C523S	possibly damaging	Het
Copz1	T	A	15: 103,207,176 (GRCm39)		probably benign	Het
Crybg1	A	C	10: 43,843,814 (GRCm39)		probably null	Het
Cyp3a11	A	T	5: 145,799,275 (GRCm39)	I304N	probably damaging	Het
Eif2d	C	T	1: 131,092,173 (GRCm39)	Q315*	probably null	Het
Fgfr4	A	G	13: 55,306,983 (GRCm39)	E224G	probably damaging	Het
Fndc3b	A	T	3: 27,505,658 (GRCm39)	L870Q	probably damaging	Het
Glt8d2	C	T	10: 82,497,999 (GRCm39)		probably null	Het
Gpat3	A	T	5: 101,041,010 (GRCm39)	M357L	probably benign	Het
Hrnr	A	T	3: 93,230,204 (GRCm39)	K147N	unknown	Het
Kbtbd3	T	A	9: 4,331,184 (GRCm39)	S519R	probably damaging	Het
Kcnv1	A	G	15: 44,976,624 (GRCm39)	I221T	probably benign	Het
Khdrbs2	C	T	1: 32,511,833 (GRCm39)	A266V	probably benign	Het
Lmtk2	A	G	5: 144,113,216 (GRCm39)	E1312G	probably benign	Het
Mos	T	C	4: 3,871,459 (GRCm39)	N119S	probably damaging	Het
Mtpap	C	T	18: 4,380,717 (GRCm39)	H132Y	probably benign	Het
Myo18b	G	A	5: 113,019,351 (GRCm39)	T642I	probably damaging	Het
Myo5c	A	G	9: 75,196,463 (GRCm39)	E1303G	probably benign	Het
Napepld	A	T	5: 21,888,191 (GRCm39)	M86K	probably benign	Het
Nvl	T	A	1: 180,932,690 (GRCm39)	D709V	probably damaging	Het
Pak1ip1	A	T	13: 41,166,099 (GRCm39)	E341D	probably benign	Het
Pgghg	G	A	7: 140,522,317 (GRCm39)	G32D	probably damaging	Het
Phlpp1	G	A	1: 106,303,985 (GRCm39)	R1096H	probably damaging	Het
Phlpp1	C	T	1: 106,267,178 (GRCm39)	T697M	probably damaging	Het
Piwil4	T	G	9: 14,638,707 (GRCm39)	T273P	probably damaging	Het
Pkd2l1	A	T	19: 44,180,718 (GRCm39)		probably benign	Het
Polr3b	A	G	10: 84,516,241 (GRCm39)	D623G	probably damaging	Het
Pop1	A	G	15: 34,508,875 (GRCm39)	T317A	probably benign	Het
Prune2	A	T	19: 17,096,482 (GRCm39)	K662I	probably damaging	Het
Ptger4	T	C	15: 5,264,589 (GRCm39)	I356V	probably benign	Het
Rhbdd1	T	C	1: 82,318,165 (GRCm39)	L16P	possibly damaging	Het
Rps11	C	T	7: 44,772,925 (GRCm39)	R22Q	probably benign	Het
Sfxn2	A	T	19: 46,578,596 (GRCm39)	I204F	probably damaging	Het
Slc26a9	C	T	1: 131,685,266 (GRCm39)	S365F	probably damaging	Het
Slc47a2	C	T	11: 61,193,059 (GRCm39)	V565M	probably benign	Het
Spns1	T	C	7: 125,970,414 (GRCm39)		probably null	Het
Stk3	T	A	15: 35,114,768 (GRCm39)	E48V	possibly damaging	Het
Tjp1	T	C	7: 64,952,942 (GRCm39)	Q1464R	probably benign	Het
Tspan10	T	C	11: 120,335,096 (GRCm39)	S69P	probably benign	Het
Usp32	T	C	11: 84,942,007 (GRCm39)		probably benign	Het
Vps45	G	T	3: 95,964,285 (GRCm39)		probably benign	Het
Zfp106	A	T	2: 120,343,208 (GRCm39)	N1790K	probably damaging	Het
Zfp704	A	T	3: 9,630,299 (GRCm39)	S21T	possibly damaging	Het

Other mutations in Svs3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01584:Svs3b	APN	2	164,097,943 (GRCm39)	missense	probably benign	0.35
IGL01978:Svs3b	APN	2	164,098,541 (GRCm39)	start codon destroyed	probably benign	0.16
IGL02279:Svs3b	APN	2	164,098,124 (GRCm39)	missense	possibly damaging	0.71
IGL03205:Svs3b	APN	2	164,098,181 (GRCm39)	missense	probably damaging	0.97
R0078:Svs3b	UTSW	2	164,097,881 (GRCm39)	missense	probably benign	0.14
R0097:Svs3b	UTSW	2	164,098,159 (GRCm39)	missense	probably damaging	0.98
R1920:Svs3b	UTSW	2	164,097,848 (GRCm39)	missense	probably benign	0.00
R1921:Svs3b	UTSW	2	164,097,848 (GRCm39)	missense	probably benign	0.00
R7938:Svs3b	UTSW	2	164,097,567 (GRCm39)	nonsense	probably null
R8118:Svs3b	UTSW	2	164,097,926 (GRCm39)	missense	probably damaging	0.97
R8209:Svs3b	UTSW	2	164,098,140 (GRCm39)	missense	possibly damaging	0.88
R8226:Svs3b	UTSW	2	164,098,140 (GRCm39)	missense	possibly damaging	0.88

Posted On

2012-12-06