Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02707:Stxbp4'

304412

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 #

IGL02707

Quality Score

Status

Chromosome

Chromosomal Location

90367318-90528910 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90428759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 449 (S449P)

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: S449P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000020858
Gene: ENSMUSG00000020546
AA Change: S449P

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

probably benign
Transcript: ENSMUST00000123260
AA Change: S82P

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

SMART Domains

Protein: ENSMUSP00000122365
Gene: ENSMUSG00000020546
AA Change: S82P

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: S449P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000116191
Gene: ENSMUSG00000020546
AA Change: S449P

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,165,928 (GRCm39)	T149A	probably benign	Het
4932414N04Rik	A	C	2: 68,561,474 (GRCm39)	Q267P	possibly damaging	Het
Actr5	T	C	2: 158,478,617 (GRCm39)	V489A	probably benign	Het
Adam26b	T	C	8: 43,972,895 (GRCm39)		probably benign	Het
Aff4	A	G	11: 53,290,567 (GRCm39)	N509S	probably benign	Het
Arhgap22	C	T	14: 33,085,229 (GRCm39)		probably benign	Het
Arhgap9	C	A	10: 127,165,476 (GRCm39)	H628Q	probably damaging	Het
Asap1	A	T	15: 64,001,123 (GRCm39)	I486N	probably damaging	Het
Asb15	A	T	6: 24,558,787 (GRCm39)		probably benign	Het
Avil	A	G	10: 126,842,431 (GRCm39)	D70G	probably damaging	Het
Cct6b	T	C	11: 82,645,780 (GRCm39)		probably benign	Het
Cep63	A	T	9: 102,464,180 (GRCm39)	I717K	probably damaging	Het
Chd4	G	T	6: 125,085,730 (GRCm39)	A875S	probably damaging	Het
Col4a4	A	T	1: 82,471,237 (GRCm39)	M706K	unknown	Het
Cr1l	T	C	1: 194,806,019 (GRCm39)	T155A	probably benign	Het
Ctnna3	A	G	10: 63,339,844 (GRCm39)	N10S	probably benign	Het
Cubn	A	G	2: 13,450,843 (GRCm39)	V854A	probably damaging	Het
Dgkh	T	C	14: 78,823,091 (GRCm39)	T845A	possibly damaging	Het
F10	G	A	8: 13,098,252 (GRCm39)	A152T	probably damaging	Het
Gabrg3	C	A	7: 56,632,439 (GRCm39)	E170*	probably null	Het
Heatr5a	A	G	12: 51,968,149 (GRCm39)	V829A	probably benign	Het
Htt	T	A	5: 34,987,225 (GRCm39)		probably null	Het
Icam4	T	C	9: 20,941,770 (GRCm39)	Y257H	possibly damaging	Het
Jph1	A	G	1: 17,074,675 (GRCm39)	S448P	probably benign	Het
Kansl1l	G	A	1: 66,812,604 (GRCm39)	L125F	probably damaging	Het
Kifc1	A	T	17: 34,100,467 (GRCm39)	C46*	probably null	Het
Lce3b	A	G	3: 92,841,193 (GRCm39)	D96G	unknown	Het
Mab21l1	A	T	3: 55,690,505 (GRCm39)	I31F	possibly damaging	Het
Mctp2	A	G	7: 71,909,089 (GRCm39)	Y75H	possibly damaging	Het
Mesp2	A	G	7: 79,461,274 (GRCm39)	I200V	probably benign	Het
Msr1	T	C	8: 40,085,870 (GRCm39)		probably benign	Het
Mtfr2	C	T	10: 20,224,084 (GRCm39)	T6I	probably benign	Het
Myo5b	T	C	18: 74,828,438 (GRCm39)		probably benign	Het
Myoc	T	A	1: 162,467,029 (GRCm39)	I66N	probably benign	Het
Or10d1b	T	C	9: 39,613,937 (GRCm39)	I43V	probably damaging	Het
Or4a70	A	T	2: 89,324,171 (GRCm39)	Y162N	probably damaging	Het
Or51k1	A	C	7: 103,661,609 (GRCm39)	L100W	probably damaging	Het
Or52n20	T	C	7: 104,320,136 (GRCm39)	C76R	probably damaging	Het
Or52n2b	A	G	7: 104,565,859 (GRCm39)	C215R	probably damaging	Het
Or7a39	T	C	10: 78,715,759 (GRCm39)	L251S	probably damaging	Het
Per2	T	C	1: 91,378,450 (GRCm39)	D33G	possibly damaging	Het
Pknox1	A	G	17: 31,821,793 (GRCm39)	I295V	possibly damaging	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Rhot2	A	G	17: 26,063,270 (GRCm39)	S19P	probably damaging	Het
Rps6kb1	C	A	11: 86,426,236 (GRCm39)		probably null	Het
Serpinb1b	C	T	13: 33,275,648 (GRCm39)	T194I	probably benign	Het
Smarcad1	T	A	6: 65,029,790 (GRCm39)		probably benign	Het
Thrb	A	C	14: 18,026,721 (GRCm38)	I275L	probably benign	Het
Tjp1	T	A	7: 64,979,431 (GRCm39)	K365*	probably null	Het
Tjp1	T	A	7: 64,979,430 (GRCm39)	K365I	possibly damaging	Het
Tm4sf4	C	A	3: 57,333,939 (GRCm39)	C75*	probably null	Het
Tmem131	T	C	1: 36,864,560 (GRCm39)	T558A	probably benign	Het
Txndc16	T	C	14: 45,399,730 (GRCm39)	T408A	probably benign	Het
Ube2j1	T	C	4: 33,038,206 (GRCm39)	L38P	possibly damaging	Het
Urb2	T	C	8: 124,757,425 (GRCm39)	I1044T	probably benign	Het

Other mutations in Stxbp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00988:Stxbp4	APN	11	90,426,338 (GRCm39)	missense	probably benign	0.00
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
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

2015-04-16