Mutagenetix > Incidental Mutation

Incidental Mutation 'R4522:Stxbp3-ps'

500663

Institutional Source

Beutler Lab

Gene Symbol

Stxbp3-ps

Ensembl Gene

ENSMUSG00000071640

Gene Name

syntaxin-binding protein 3, pseudogene

Synonyms

Stxbp3b, Munc18c(L)

MMRRC Submission

041765-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.355) question?

Stock #

R4522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9535156-9536547 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

A to T at 9536474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000090527

SMART Domains

Protein: ENSMUSP00000088014
Gene: ENSMUSG00000071640

Domain	Start	End	E-Value	Type
Pfam:Sec1	33	253	1.2e-48	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	A	G	10: 50,536,766 (GRCm39)	N700D	probably benign	Het
Babam2	G	A	5: 32,164,586 (GRCm39)	V287M	probably damaging	Het
Brip1	T	C	11: 86,080,627 (GRCm39)	I146M	possibly damaging	Het
Cacna1b	C	T	2: 24,544,442 (GRCm39)	R1248H	probably damaging	Het
Ccdc88c	G	T	12: 100,879,591 (GRCm39)	S1843R	possibly damaging	Het
Cfap47	A	T	X: 78,553,601 (GRCm39)	N291K	possibly damaging	Het
Chaf1b	G	A	16: 93,698,183 (GRCm39)	A485T	probably benign	Het
Dock7	T	C	4: 98,850,461 (GRCm39)	R1594G	probably damaging	Het
Fbxo41	A	G	6: 85,461,024 (GRCm39)	I228T	probably damaging	Het
Gm3739	T	A	14: 18,505,267 (GRCm39)	K86*	probably null	Het
Mark2	A	T	19: 7,263,313 (GRCm39)	D151E	probably damaging	Het
Nop2	G	T	6: 125,110,515 (GRCm39)	R47L	probably damaging	Het
Nwd1	A	T	8: 73,397,579 (GRCm39)	D606V	probably damaging	Het
Or8w1	T	A	2: 87,465,495 (GRCm39)	I199L	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pcbp1	T	C	6: 86,502,032 (GRCm39)	N289S	probably benign	Het
Plce1	T	C	19: 38,512,763 (GRCm39)	S21P	possibly damaging	Het
Ptpn18	T	C	1: 34,512,041 (GRCm39)	L55P	probably benign	Het
Rpl10l	T	C	12: 66,330,512 (GRCm39)	D207G	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sec23b	T	A	2: 144,420,286 (GRCm39)	I450N	possibly damaging	Het
Speg	A	G	1: 75,404,974 (GRCm39)	E2922G	probably damaging	Het
Spem1	C	A	11: 69,712,631 (GRCm39)		probably null	Het
Tmem38a	C	T	8: 73,326,005 (GRCm39)	P20S	possibly damaging	Het
Tmod2	T	C	9: 75,499,866 (GRCm39)	T129A	probably benign	Het
Ttc28	A	G	5: 111,428,038 (GRCm39)	T1845A	probably benign	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Ush2a	C	T	1: 188,596,822 (GRCm39)	T3854M	probably damaging	Het
Vmn2r72	T	A	7: 85,401,134 (GRCm39)	H95L	probably benign	Het
Xdh	C	A	17: 74,205,339 (GRCm39)	G1042V	probably damaging	Het
Zfp105	T	A	9: 122,759,121 (GRCm39)	V264E	possibly damaging	Het

Other mutations in Stxbp3-ps

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00569:Stxbp3-ps	APN	19	9,535,186 (GRCm39)	exon	noncoding transcript
IGL01296:Stxbp3-ps	APN	19	9,535,256 (GRCm39)	exon	noncoding transcript
IGL01455:Stxbp3-ps	APN	19	9,535,371 (GRCm39)	exon	noncoding transcript
IGL02698:Stxbp3-ps	APN	19	9,535,688 (GRCm39)	exon	noncoding transcript
IGL02756:Stxbp3-ps	APN	19	9,535,193 (GRCm39)	exon	noncoding transcript
IGL03324:Stxbp3-ps	APN	19	9,535,714 (GRCm39)	exon	noncoding transcript
R0217:Stxbp3-ps	UTSW	19	9,536,496 (GRCm39)	exon	noncoding transcript
R5030:Stxbp3-ps	UTSW	19	9,535,714 (GRCm39)	exon	noncoding transcript
R5541:Stxbp3-ps	UTSW	19	9,535,334 (GRCm39)	exon	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- TTCTGCTGACATGTAATCTTTCTG -3'
(R):5'- AGCTGCAGTCAGTAAAACACT -3'

Sequencing Primer
(F):5'- TCTGTTAATGAATCAAACCCGTGCC -3'
(R):5'- TATTAGAAACATCATTACCAGGGGGC -3'

Posted On

2017-12-01