Mutagenetix > Incidental Mutation

Incidental Mutation 'R8226:Svs3b'

636973

Institutional Source

Beutler Lab

Gene Symbol

Svs3b

Ensembl Gene

ENSMUSG00000050383

Gene Name

seminal vesicle secretory protein 3B

Synonyms

SVS III, 9530004A22Rik

MMRRC Submission

067643-MU

Accession Numbers

Essential gene?

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

Stock #

R8226 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

164096283-164098560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 164098140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 60 (E60D)

Ref Sequence

ENSEMBL: ENSMUSP00000062011 (fasta)

Gene Model

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

AlphaFold

Q8BZH8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063132
AA Change: E60D

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000062011
Gene: ENSMUSG00000050383
AA Change: E60D

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

1x: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.7%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,094,195 (GRCm39)	N27S	probably damaging	Het
Abcb1b	T	A	5: 8,871,390 (GRCm39)	Y315N	probably damaging	Het
Acy1	A	G	9: 106,314,857 (GRCm39)	I22T	probably damaging	Het
Akap11	G	A	14: 78,748,649 (GRCm39)	T1246M		Het
Akr1b1	G	C	6: 34,288,867 (GRCm39)	T114R	probably damaging	Het
Apob	G	A	12: 8,059,056 (GRCm39)	V2513I	probably benign	Het
Arhgap21	C	T	2: 20,876,556 (GRCm39)	D820N	probably damaging	Het
Arl2	A	T	19: 6,187,506 (GRCm39)		probably null	Het
Bmp5	C	T	9: 75,683,606 (GRCm39)	P78S	probably damaging	Het
Cic	T	C	7: 24,987,213 (GRCm39)	C1374R	probably damaging	Het
Dennd5b	T	C	6: 148,915,746 (GRCm39)		probably null	Het
Dhx36	A	G	3: 62,377,991 (GRCm39)	Y1000H	probably benign	Het
Dnah14	A	G	1: 181,623,110 (GRCm39)	E3996G	possibly damaging	Het
Efcab6	T	C	15: 83,788,456 (GRCm39)	Y946C	probably benign	Het
Egfem1	A	G	3: 29,711,404 (GRCm39)	K328E	probably damaging	Het
F5	T	C	1: 164,021,959 (GRCm39)	V1478A	probably benign	Het
Fchsd2	C	T	7: 100,931,679 (GRCm39)	P745L	probably damaging	Het
Grb10	G	T	11: 11,901,533 (GRCm39)	L214M	probably damaging	Het
H6pd	A	G	4: 150,080,446 (GRCm39)	V133A	probably benign	Het
Irak4	T	A	15: 94,456,244 (GRCm39)	L277Q	probably damaging	Het
Krt78	A	T	15: 101,855,480 (GRCm39)	M777K	possibly damaging	Het
Lrch4	A	G	5: 137,637,997 (GRCm39)	H93R		Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Mga	A	G	2: 119,790,866 (GRCm39)	I2251V	probably benign	Het
Mtx3	A	G	13: 92,984,215 (GRCm39)	E164G	possibly damaging	Het
Muc21	T	C	17: 35,930,599 (GRCm39)		probably benign	Het
Nbeal1	A	T	1: 60,316,336 (GRCm39)	K1846N	probably damaging	Het
Nedd1	T	A	10: 92,527,797 (GRCm39)	M466L	probably benign	Het
Nr4a3	A	T	4: 48,056,588 (GRCm39)	K380M	probably damaging	Het
Nup107	T	C	10: 117,593,836 (GRCm39)	K786E	probably benign	Het
Or51f23b	T	C	7: 102,402,950 (GRCm39)	Y62C	probably benign	Het
Or5ak25	T	A	2: 85,268,981 (GRCm39)	I174F	probably damaging	Het
Or5m12	T	C	2: 85,734,547 (GRCm39)	I284V	probably benign	Het
Or5v1	A	T	17: 37,809,560 (GRCm39)	Q6L	probably benign	Het
Pira13	A	C	7: 3,828,109 (GRCm39)	L66R		Het
Pkhd1l1	A	G	15: 44,437,803 (GRCm39)	N3533D	possibly damaging	Het
Plpp1	A	T	13: 113,003,465 (GRCm39)	T230S	probably benign	Het
Plxnc1	A	C	10: 94,669,230 (GRCm39)	D1063E	possibly damaging	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Prokr2	C	A	2: 132,215,961 (GRCm39)	A167S	probably damaging	Het
Qser1	C	T	2: 104,619,070 (GRCm39)	A491T	probably benign	Het
Rc3h2	T	A	2: 37,267,001 (GRCm39)	Y1040F	possibly damaging	Het
Rgl2	C	T	17: 34,151,501 (GRCm39)	L182F	possibly damaging	Het
Rnf130	T	C	11: 49,962,097 (GRCm39)	V181A	probably benign	Het
Scd4	A	G	19: 44,322,572 (GRCm39)	D55G	probably benign	Het
Scn7a	T	G	2: 66,531,204 (GRCm39)	I558L	possibly damaging	Het
Serpinb7	G	A	1: 107,375,980 (GRCm39)		probably null	Het
Shtn1	T	C	19: 58,992,328 (GRCm39)	I417V	possibly damaging	Het
Tex14	T	C	11: 87,375,585 (GRCm39)	I116T	probably damaging	Het
Trak1	C	T	9: 121,280,793 (GRCm39)	T394I	probably benign	Het
Trhde	C	T	10: 114,403,133 (GRCm39)	V497M	probably damaging	Het
Trpc2	A	G	7: 101,737,482 (GRCm39)	M425V	possibly damaging	Het
Trpm2	C	T	10: 77,783,807 (GRCm39)	R222Q	probably damaging	Het
Tuba1b	C	T	15: 98,829,591 (GRCm39)	G410S	probably benign	Het
Usp28	T	G	9: 48,926,697 (GRCm39)		probably null	Het
Vps13d	T	C	4: 144,875,860 (GRCm39)	Y1555C		Het
Wdr17	T	A	8: 55,146,155 (GRCm39)	N106Y	possibly damaging	Het

Other mutations in Svs3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Svs3b	APN	2	164,098,021 (GRCm39)	missense	probably damaging	0.98
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

Predicted Primers

PCR Primer
(F):5'- ACTTCAGTTGGGCTGCGTAG -3'
(R):5'- ATGGACGTTGTCTTCTCCAC -3'

Sequencing Primer
(F):5'- CAGTTGGGCTGCGTAGGATTTTAC -3'
(R):5'- ATCCACATGCCTGGGTACAG -3'

Posted On

2020-07-13