Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00988:Stxbp4'

28678

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stxbp4

Ensembl Gene

ENSMUSG00000020546

Gene Name

syntaxin binding protein 4

Synonyms

6030470M02Rik, Synip

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00988

Quality Score

Status

Chromosome

Chromosomal Location

90367318-90528910 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90426338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 490 (V490A)

Ref Sequence

ENSEMBL: ENSMUSP00000116191 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020858] [ENSMUST00000143203]

AlphaFold

Q9WV89

Predicted Effect

probably benign
Transcript: ENSMUST00000020858
AA Change: V490A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020858
Gene: ENSMUSG00000020546
AA Change: V490A

Domain	Start	End	E-Value	Type
PDZ	29	109	6.13e-10	SMART
low complexity region	131	154	N/A	INTRINSIC
coiled coil region	298	409	N/A	INTRINSIC
low complexity region	504	522	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119669

Predicted Effect

unknown
Transcript: ENSMUST00000123260
AA Change: V123A

SMART Domains

Protein: ENSMUSP00000122365
Gene: ENSMUSG00000020546
AA Change: V123A

Domain	Start	End	E-Value	Type
coiled coil region	3	42	N/A	INTRINSIC
SCOP:d1i5hw_	132	153	6e-7	SMART
Blast:WW	135	153	3e-7	BLAST
PDB:2YSG\|A	136	153	4e-7	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000143203
AA Change: V490A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116191
Gene: ENSMUSG00000020546
AA Change: V490A

Domain	Start	End	E-Value	Type
PDZ	29	109	6.13e-10	SMART
low complexity region	131	154	N/A	INTRINSIC
coiled coil region	298	409	N/A	INTRINSIC
WW	501	533	1.11e-10	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,215,937 (GRCm39)		probably null	Het
Acin1	G	A	14: 54,884,257 (GRCm39)	T67I	probably damaging	Het
Agmo	T	C	12: 37,407,716 (GRCm39)	I200T	probably damaging	Het
Cep95	A	G	11: 106,697,220 (GRCm39)	T248A	probably benign	Het
Cmya5	C	T	13: 93,234,441 (GRCm39)	V216M	possibly damaging	Het
Gas6	T	G	8: 13,526,171 (GRCm39)	T256P	probably damaging	Het
Gbf1	T	C	19: 46,272,559 (GRCm39)		probably null	Het
Klhl10	G	A	11: 100,347,110 (GRCm39)	V435I	possibly damaging	Het
Lama2	T	A	10: 27,245,011 (GRCm39)	K257*	probably null	Het
Lrriq1	A	T	10: 102,997,757 (GRCm39)	V1286E	probably damaging	Het
Mtbp	T	A	15: 55,421,894 (GRCm39)		probably benign	Het
Nedd1	A	G	10: 92,525,548 (GRCm39)	V587A	possibly damaging	Het
Srbd1	T	C	17: 86,437,698 (GRCm39)	E215G	probably damaging	Het
Vmn2r124	A	G	17: 18,282,932 (GRCm39)	M209V	probably benign	Het

Other mutations in Stxbp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01312:Stxbp4	APN	11	90,512,475 (GRCm39)	splice site	probably benign
IGL01313:Stxbp4	APN	11	90,512,475 (GRCm39)	splice site	probably benign
IGL01314:Stxbp4	APN	11	90,512,475 (GRCm39)	splice site	probably benign
IGL01316:Stxbp4	APN	11	90,512,475 (GRCm39)	splice site	probably benign
IGL01377:Stxbp4	APN	11	90,512,475 (GRCm39)	splice site	probably benign
IGL01380:Stxbp4	APN	11	90,512,475 (GRCm39)	splice site	probably benign
IGL01385:Stxbp4	APN	11	90,431,074 (GRCm39)	missense	possibly damaging	0.95
IGL01408:Stxbp4	APN	11	90,512,475 (GRCm39)	splice site	probably benign
IGL02573:Stxbp4	APN	11	90,431,095 (GRCm39)	missense	probably damaging	0.99
IGL02707:Stxbp4	APN	11	90,428,759 (GRCm39)	missense	probably benign	0.00
IGL02809:Stxbp4	APN	11	90,491,010 (GRCm39)	critical splice donor site	probably null
IGL02900:Stxbp4	APN	11	90,497,861 (GRCm39)	missense	probably benign	0.03
IGL03177:Stxbp4	APN	11	90,462,579 (GRCm39)	missense	probably benign	0.01
IGL03397:Stxbp4	APN	11	90,431,060 (GRCm39)	missense	probably damaging	1.00
IGL02799:Stxbp4	UTSW	11	90,385,426 (GRCm39)	critical splice donor site	probably null
IGL03134:Stxbp4	UTSW	11	90,498,010 (GRCm39)	missense	probably damaging	0.98
R0005:Stxbp4	UTSW	11	90,439,743 (GRCm39)	missense	possibly damaging	0.78
R0487:Stxbp4	UTSW	11	90,483,186 (GRCm39)	missense	probably benign	0.00
R0930:Stxbp4	UTSW	11	90,512,526 (GRCm39)	start codon destroyed	probably null	0.99
R1633:Stxbp4	UTSW	11	90,430,986 (GRCm39)	splice site	probably benign
R3785:Stxbp4	UTSW	11	90,426,441 (GRCm39)	critical splice acceptor site	probably null
R4359:Stxbp4	UTSW	11	90,385,470 (GRCm39)	nonsense	probably null
R4591:Stxbp4	UTSW	11	90,485,606 (GRCm39)	missense	probably benign	0.33
R4756:Stxbp4	UTSW	11	90,498,197 (GRCm39)	missense	probably damaging	1.00
R5095:Stxbp4	UTSW	11	90,439,801 (GRCm39)	missense	probably benign	0.00
R5870:Stxbp4	UTSW	11	90,428,782 (GRCm39)	missense	possibly damaging	0.89
R6268:Stxbp4	UTSW	11	90,431,027 (GRCm39)	nonsense	probably null
R6460:Stxbp4	UTSW	11	90,497,811 (GRCm39)	missense	probably benign	0.35
R6479:Stxbp4	UTSW	11	90,510,013 (GRCm39)	missense	probably damaging	0.99
R7139:Stxbp4	UTSW	11	90,497,835 (GRCm39)	nonsense	probably null
R7349:Stxbp4	UTSW	11	90,482,937 (GRCm39)	splice site	probably null
R7481:Stxbp4	UTSW	11	90,485,639 (GRCm39)	missense	possibly damaging	0.94
R7812:Stxbp4	UTSW	11	90,485,654 (GRCm39)	missense	probably damaging	1.00
R8903:Stxbp4	UTSW	11	90,426,267 (GRCm39)	missense	unknown
R9023:Stxbp4	UTSW	11	90,426,249 (GRCm39)	missense	unknown
R9100:Stxbp4	UTSW	11	90,426,320 (GRCm39)	missense	possibly damaging	0.77
V8831:Stxbp4	UTSW	11	90,371,497 (GRCm39)	missense	probably benign	0.34
Z1176:Stxbp4	UTSW	11	90,371,497 (GRCm39)	missense	probably benign	0.34
Z1177:Stxbp4	UTSW	11	90,490,972 (GRCm39)	missense	probably benign	0.01
Z1177:Stxbp4	UTSW	11	90,483,157 (GRCm39)	critical splice donor site	probably null
Z1177:Stxbp4	UTSW	11	90,371,497 (GRCm39)	missense	probably benign	0.34

Posted On

2013-04-17