Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02573:Stxbp4'

299085

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stxbp4

Ensembl Gene

ENSMUSG00000020546

Gene Name

syntaxin binding protein 4

Synonyms

Synip, 6030470M02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02573

Quality Score

Status

Chromosome

Chromosomal Location

90476492-90638084 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90540269 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 405 (D405G)

Ref Sequence

ENSEMBL: ENSMUSP00000116191 (fasta)

Gene Model

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

AlphaFold

Q9WV89

Predicted Effect

probably damaging
Transcript: ENSMUST00000020858
AA Change: D405G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020858
Gene: ENSMUSG00000020546
AA Change: D405G

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: D38G

SMART Domains

Protein: ENSMUSP00000122365
Gene: ENSMUSG00000020546
AA Change: D38G

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 damaging
Transcript: ENSMUST00000143203
AA Change: D405G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116191
Gene: ENSMUSG00000020546
AA Change: D405G

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl3	T	A	4: 99,037,934	W434R	probably damaging	Het
Atp7b	T	C	8: 22,022,470	Q344R	probably benign	Het
B4galt5	C	T	2: 167,305,062	R284Q	probably benign	Het
Ccdc80	T	G	16: 45,095,589	V236G	probably damaging	Het
Chd8	T	C	14: 52,219,734	I926V	possibly damaging	Het
Dgkz	A	C	2: 91,934,197	S1030R	probably damaging	Het
Disp3	T	A	4: 148,271,449	D318V	probably damaging	Het
Ehd1	T	C	19: 6,294,300	S197P	probably damaging	Het
Emp1	A	G	6: 135,379,947	K42R	probably benign	Het
Fam71a	G	A	1: 191,163,870	T192I	probably damaging	Het
Gm4922	T	A	10: 18,783,675	D433V	probably benign	Het
Gsdma	T	C	11: 98,670,751		probably benign	Het
Hspbp1	G	T	7: 4,677,853	A208E	probably damaging	Het
Il5ra	A	T	6: 106,716,751	V342E	possibly damaging	Het
Kif13b	T	C	14: 64,803,431	F1660S	probably damaging	Het
Lvrn	A	G	18: 46,876,949	E388G	probably damaging	Het
Mettl17	G	A	14: 51,888,047		probably null	Het
Mgat5b	T	C	11: 116,977,714	Y488H	probably benign	Het
Mtr	A	T	13: 12,199,127	D886E	possibly damaging	Het
Naip6	A	T	13: 100,299,471	L848*	probably null	Het
Nav3	A	G	10: 109,866,974	S233P	probably benign	Het
Nme9	A	T	9: 99,470,855	D286V	probably benign	Het
Nod1	C	A	6: 54,943,945	A463S	probably benign	Het
Nthl1	A	G	17: 24,633,975	K51R	probably benign	Het
Olfr354	A	G	2: 36,907,554	I203V	probably damaging	Het
Olfr427	T	A	1: 174,100,130	V224D	possibly damaging	Het
Pcnx2	G	A	8: 125,855,273	A908V	probably benign	Het
Pdcd6	A	G	13: 74,303,979	Y181H	probably damaging	Het
Pde10a	A	C	17: 8,961,890	I719L	probably benign	Het
Pikfyve	T	A	1: 65,230,855		probably null	Het
Plekha5	G	T	6: 140,582,016	A396S	probably damaging	Het
Ppfia2	A	G	10: 106,828,928	T342A	probably damaging	Het
Rbck1	A	G	2: 152,322,167	I339T	possibly damaging	Het
Rbms2	A	T	10: 128,143,440	I140N	probably damaging	Het
Scn1b	A	T	7: 31,123,121	L78Q	possibly damaging	Het
Slc12a6	T	C	2: 112,358,641		probably null	Het
Slc25a30	A	T	14: 75,769,668		probably benign	Het
Slc30a7	C	T	3: 115,990,147		probably benign	Het
Slc5a10	C	A	11: 61,673,072	R546L	possibly damaging	Het
Tm4sf19	A	C	16: 32,407,860	T156P	possibly damaging	Het
Tmem37	A	T	1: 120,067,989	D119E	probably damaging	Het
Tor1aip1	T	A	1: 156,013,371	N113I	probably damaging	Het
Ubac2	T	A	14: 121,907,390	Y87N	possibly damaging	Het
Usp29	A	T	7: 6,962,618		probably null	Het
Wdr92	T	C	11: 17,212,136	L58P	possibly damaging	Het
Zfp276	A	G	8: 123,264,997	E428G	probably damaging	Het

Other mutations in Stxbp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00988:Stxbp4	APN	11	90535512	missense	probably benign	0.00
IGL01312:Stxbp4	APN	11	90621649	splice site	probably benign
IGL01313:Stxbp4	APN	11	90621649	splice site	probably benign
IGL01314:Stxbp4	APN	11	90621649	splice site	probably benign
IGL01316:Stxbp4	APN	11	90621649	splice site	probably benign
IGL01377:Stxbp4	APN	11	90621649	splice site	probably benign
IGL01380:Stxbp4	APN	11	90621649	splice site	probably benign
IGL01385:Stxbp4	APN	11	90540248	missense	possibly damaging	0.95
IGL01408:Stxbp4	APN	11	90621649	splice site	probably benign
IGL02707:Stxbp4	APN	11	90537933	missense	probably benign	0.00
IGL02809:Stxbp4	APN	11	90600184	critical splice donor site	probably null
IGL02900:Stxbp4	APN	11	90607035	missense	probably benign	0.03
IGL03177:Stxbp4	APN	11	90571753	missense	probably benign	0.01
IGL03397:Stxbp4	APN	11	90540234	missense	probably damaging	1.00
IGL02799:Stxbp4	UTSW	11	90494600	critical splice donor site	probably null
IGL03134:Stxbp4	UTSW	11	90607184	missense	probably damaging	0.98
R0005:Stxbp4	UTSW	11	90548917	missense	possibly damaging	0.78
R0487:Stxbp4	UTSW	11	90592360	missense	probably benign	0.00
R0930:Stxbp4	UTSW	11	90621700	start codon destroyed	probably null	0.99
R1633:Stxbp4	UTSW	11	90540160	splice site	probably benign
R3785:Stxbp4	UTSW	11	90535615	critical splice acceptor site	probably null
R4359:Stxbp4	UTSW	11	90494644	nonsense	probably null
R4591:Stxbp4	UTSW	11	90594780	missense	probably benign	0.33
R4756:Stxbp4	UTSW	11	90607371	missense	probably damaging	1.00
R5095:Stxbp4	UTSW	11	90548975	missense	probably benign	0.00
R5870:Stxbp4	UTSW	11	90537956	missense	possibly damaging	0.89
R6268:Stxbp4	UTSW	11	90540201	nonsense	probably null
R6460:Stxbp4	UTSW	11	90606985	missense	probably benign	0.35
R6479:Stxbp4	UTSW	11	90619187	missense	probably damaging	0.99
R7139:Stxbp4	UTSW	11	90607009	nonsense	probably null
R7349:Stxbp4	UTSW	11	90592111	splice site	probably null
R7481:Stxbp4	UTSW	11	90594813	missense	possibly damaging	0.94
R7812:Stxbp4	UTSW	11	90594828	missense	probably damaging	1.00
R8903:Stxbp4	UTSW	11	90535441	missense	unknown
R9023:Stxbp4	UTSW	11	90535423	missense	unknown
R9100:Stxbp4	UTSW	11	90535494	missense	possibly damaging	0.77
V8831:Stxbp4	UTSW	11	90480671	missense	probably benign	0.34
Z1176:Stxbp4	UTSW	11	90480671	missense	probably benign	0.34
Z1177:Stxbp4	UTSW	11	90480671	missense	probably benign	0.34
Z1177:Stxbp4	UTSW	11	90592331	critical splice donor site	probably null
Z1177:Stxbp4	UTSW	11	90600146	missense	probably benign	0.01

Posted On

2015-04-16