Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01082:Stxbp5l'

52896

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stxbp5l

Ensembl Gene

ENSMUSG00000022829

Gene Name

syntaxin binding protein 5-like

Synonyms

t2md1, insulin level locus 1, tomosyn-2, T2dm1, A830015P08Rik, LLGL4

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01082

Quality Score

Status

Chromosome

Chromosomal Location

37114942-37384962 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37204578 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 553 (S553P)

Ref Sequence

ENSEMBL: ENSMUSP00000110435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023526] [ENSMUST00000114780] [ENSMUST00000114781] [ENSMUST00000114782] [ENSMUST00000114787]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000023526

SMART Domains

Protein: ENSMUSP00000023526
Gene: ENSMUSG00000022829

Domain	Start	End	E-Value	Type
low complexity region	16	40	N/A	INTRINSIC
WD40	58	97	1.1e2	SMART
WD40	99	138	6.66e-1	SMART
Blast:WD40	143	182	2e-20	BLAST
WD40	197	236	2.22e0	SMART
WD40	240	277	1.7e-2	SMART
Pfam:LLGL	284	396	7.6e-45	PFAM
WD40	397	476	7.7e-1	SMART
WD40	501	541	6.14e1	SMART
low complexity region	577	592	N/A	INTRINSIC
low complexity region	790	804	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114780
AA Change: S553P

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110428
Gene: ENSMUSG00000022829
AA Change: S553P

Domain	Start	End	E-Value	Type
low complexity region	16	40	N/A	INTRINSIC
WD40	58	97	1.1e2	SMART
WD40	99	138	6.66e-1	SMART
Blast:WD40	143	182	1e-20	BLAST
WD40	197	236	2.22e0	SMART
WD40	240	277	1.7e-2	SMART
Pfam:LLGL	284	396	8.6e-45	PFAM
WD40	397	476	7.7e-1	SMART
WD40	501	541	6.14e1	SMART
low complexity region	577	592	N/A	INTRINSIC
Pfam:Lgl_C	731	988	3e-9	PFAM
PDB:1URQ\|A	1038	1097	2e-25	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114781
AA Change: S553P

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110429
Gene: ENSMUSG00000022829
AA Change: S553P

Domain	Start	End	E-Value	Type
low complexity region	16	40	N/A	INTRINSIC
WD40	58	97	1.1e2	SMART
WD40	99	138	6.66e-1	SMART
Blast:WD40	143	182	1e-20	BLAST
WD40	197	236	2.22e0	SMART
WD40	240	277	1.7e-2	SMART
Pfam:LLGL	284	396	8.9e-45	PFAM
WD40	397	476	7.7e-1	SMART
WD40	501	541	6.14e1	SMART
low complexity region	577	592	N/A	INTRINSIC
Pfam:Lgl_C	755	1012	3.1e-9	PFAM
PDB:1URQ\|A	1062	1121	2e-25	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114782
AA Change: S553P

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110430
Gene: ENSMUSG00000022829
AA Change: S553P

Domain	Start	End	E-Value	Type
low complexity region	16	40	N/A	INTRINSIC
WD40	58	97	1.1e2	SMART
WD40	99	138	6.66e-1	SMART
Blast:WD40	143	182	1e-20	BLAST
WD40	197	236	2.22e0	SMART
WD40	240	277	1.7e-2	SMART
Pfam:LLGL	284	396	9.2e-45	PFAM
WD40	397	476	7.7e-1	SMART
WD40	501	541	6.14e1	SMART
low complexity region	577	592	N/A	INTRINSIC
Pfam:Lgl_C	785	1045	3.1e-9	PFAM
PDB:1URQ\|A	1095	1154	2e-25	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114787
AA Change: S553P

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110435
Gene: ENSMUSG00000022829
AA Change: S553P

Domain	Start	End	E-Value	Type
low complexity region	16	40	N/A	INTRINSIC
WD40	58	97	1.1e2	SMART
WD40	99	138	6.66e-1	SMART
Blast:WD40	143	182	1e-20	BLAST
WD40	197	236	2.22e0	SMART
WD40	240	277	1.7e-2	SMART
Pfam:LLGL	287	396	8.7e-35	PFAM
WD40	397	476	7.7e-1	SMART
WD40	501	541	6.14e1	SMART
low complexity region	577	592	N/A	INTRINSIC
Pfam:Lgl_C	811	1069	3.3e-9	PFAM
PDB:1URQ\|A	1119	1178	2e-25	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149984

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a QTL derived from BTBR exhibit increased fasting serum glucose and decreased fasting serum insulin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,314,114	S723F	probably damaging	Het
Cacng5	C	T	11: 107,881,705	V106I	probably benign	Het
Ccdc116	A	G	16: 17,141,992	S278P	probably damaging	Het
Cep152	A	T	2: 125,569,545		probably benign	Het
Cftr	T	C	6: 18,226,103	V350A	probably damaging	Het
Dsc2	A	T	18: 20,043,792	N399K	probably damaging	Het
Eif3d	T	C	15: 77,959,743	T468A	probably damaging	Het
Fam110b	C	T	4: 5,799,461	A293V	possibly damaging	Het
Flrt1	T	C	19: 7,095,974	T403A	probably benign	Het
Hist1h3e	A	G	13: 23,562,374		probably benign	Het
Ift140	T	A	17: 25,048,455	V609E	possibly damaging	Het
Klb	G	A	5: 65,375,940	V531I	possibly damaging	Het
Krt73	T	C	15: 101,798,937		probably null	Het
Mcm2	A	G	6: 88,887,877	V539A	probably benign	Het
Myb	A	G	10: 21,152,944	V85A	probably damaging	Het
Ndufs1	T	C	1: 63,164,817	E102G	probably damaging	Het
Nr5a2	C	A	1: 136,845,468	A499S	probably benign	Het
Olfr1201	T	C	2: 88,795,293	F304L	probably benign	Het
Olfr1256	A	T	2: 89,844,063		probably benign	Het
Olfr126	T	A	17: 37,850,623	S10R	probably benign	Het
Opa1	A	T	16: 29,618,115		probably benign	Het
Pcnx	G	A	12: 81,990,598	E1877K	possibly damaging	Het
Sel1l	A	G	12: 91,811,908	V711A	probably benign	Het
Slc22a16	A	G	10: 40,573,864	T120A	probably benign	Het
Slc26a1	G	T	5: 108,671,878	T485N	possibly damaging	Het
Sp100	T	C	1: 85,670,020	V201A	possibly damaging	Het
Spz1	T	G	13: 92,575,521	K149T	probably damaging	Het
Szt2	A	G	4: 118,397,624	S290P	probably damaging	Het
Tbc1d10c	A	G	19: 4,189,027	Y165H	probably damaging	Het
Tnxb	C	A	17: 34,714,610	Q2335K	probably damaging	Het
Trim33	T	C	3: 103,326,859	I471T	possibly damaging	Het
Vsig10	A	G	5: 117,334,905	I188V	probably benign	Het
Zfp109	A	T	7: 24,234,359	L45Q	probably damaging	Het

Other mutations in Stxbp5l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Stxbp5l	APN	16	37208100	missense	possibly damaging	0.82
IGL01448:Stxbp5l	APN	16	37215979	missense	probably damaging	0.99
IGL01475:Stxbp5l	APN	16	37345092	missense	possibly damaging	0.95
IGL01899:Stxbp5l	APN	16	37200592	missense	probably benign	0.19
IGL02232:Stxbp5l	APN	16	37329895	missense	probably damaging	1.00
IGL02389:Stxbp5l	APN	16	37208205	missense	probably benign	0.00
IGL02745:Stxbp5l	APN	16	37186654	nonsense	probably null
IGL03125:Stxbp5l	APN	16	37186721	missense	probably benign	0.02
R0058:Stxbp5l	UTSW	16	37142374	missense	possibly damaging	0.76
R0345:Stxbp5l	UTSW	16	37288308	missense	probably damaging	1.00
R0359:Stxbp5l	UTSW	16	37216078	splice site	probably benign
R0454:Stxbp5l	UTSW	16	37134284	missense	possibly damaging	0.94
R0525:Stxbp5l	UTSW	16	37129797	critical splice donor site	probably null
R0543:Stxbp5l	UTSW	16	37208096	missense	probably damaging	1.00
R0606:Stxbp5l	UTSW	16	37204521	missense	possibly damaging	0.46
R0607:Stxbp5l	UTSW	16	37142432	missense	probably benign	0.00
R1333:Stxbp5l	UTSW	16	37247869	critical splice donor site	probably null
R1593:Stxbp5l	UTSW	16	37116052	missense	probably damaging	0.96
R1605:Stxbp5l	UTSW	16	37208111	missense	probably benign	0.34
R1670:Stxbp5l	UTSW	16	37290927	critical splice donor site	probably null
R2077:Stxbp5l	UTSW	16	37236275	missense	possibly damaging	0.93
R2209:Stxbp5l	UTSW	16	37216036	missense	probably damaging	0.98
R2504:Stxbp5l	UTSW	16	37115667	missense	probably damaging	1.00
R2909:Stxbp5l	UTSW	16	37208186	missense	possibly damaging	0.89
R2917:Stxbp5l	UTSW	16	37200642	nonsense	probably null
R2918:Stxbp5l	UTSW	16	37200642	nonsense	probably null
R2935:Stxbp5l	UTSW	16	37134189	missense	possibly damaging	0.76
R3693:Stxbp5l	UTSW	16	37241346	nonsense	probably null
R3694:Stxbp5l	UTSW	16	37241346	nonsense	probably null
R3695:Stxbp5l	UTSW	16	37241346	nonsense	probably null
R4133:Stxbp5l	UTSW	16	37208119	missense	possibly damaging	0.80
R4180:Stxbp5l	UTSW	16	37247880	missense	probably benign	0.05
R4676:Stxbp5l	UTSW	16	37255884	missense	probably damaging	1.00
R4757:Stxbp5l	UTSW	16	37188634	missense	probably damaging	1.00
R4758:Stxbp5l	UTSW	16	37134230	missense	probably benign	0.18
R5105:Stxbp5l	UTSW	16	37142372	missense	probably benign	0.43
R5278:Stxbp5l	UTSW	16	37186654	missense	probably benign	0.19
R5358:Stxbp5l	UTSW	16	37174326	missense	probably damaging	0.99
R5411:Stxbp5l	UTSW	16	37129851	missense	probably damaging	1.00
R5773:Stxbp5l	UTSW	16	37208097	missense	probably damaging	1.00
R6539:Stxbp5l	UTSW	16	37129815	missense	probably damaging	1.00
R6869:Stxbp5l	UTSW	16	37204448	missense	possibly damaging	0.74
R6892:Stxbp5l	UTSW	16	37188629	missense	possibly damaging	0.94
R7369:Stxbp5l	UTSW	16	37134341	missense	probably benign	0.12
R7555:Stxbp5l	UTSW	16	37323603	missense	probably damaging	1.00
R7657:Stxbp5l	UTSW	16	37210172	missense	probably null	0.21
Z1088:Stxbp5l	UTSW	16	37204489	missense	probably benign

Posted On

2013-06-21