Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03125:Stxbp5l'

410134

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stxbp5l

Ensembl Gene

ENSMUSG00000022829

Gene Name

syntaxin binding protein 5-like

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03125

Quality Score

Status

Chromosome

Chromosomal Location

36935304-37205324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37007083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 703 (D703E)

Ref Sequence

ENSEMBL: ENSMUSP00000110435 (fasta)

Gene Model

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

AlphaFold

Q5DQR4

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

probably benign
Transcript: ENSMUST00000114780

SMART Domains

Protein: ENSMUSP00000110428
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	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

probably benign
Transcript: ENSMUST00000114781
AA Change: D703E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000110429
Gene: ENSMUSG00000022829
AA Change: D703E

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

probably benign
Transcript: ENSMUST00000114782

SMART Domains

Protein: ENSMUSP00000110430
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	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

probably benign
Transcript: ENSMUST00000114787
AA Change: D703E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000110435
Gene: ENSMUSG00000022829
AA Change: D703E

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	C	5: 114,342,866 (GRCm39)	S911R	possibly damaging	Het
Acap1	G	A	11: 69,777,864 (GRCm39)	R125C	probably damaging	Het
Car7	A	T	8: 105,274,851 (GRCm39)	S131C	probably benign	Het
Erich6	G	T	3: 58,531,727 (GRCm39)	T423N	probably benign	Het
Insr	T	C	8: 3,234,972 (GRCm39)	H174R	possibly damaging	Het
Lrch3	A	G	16: 32,734,647 (GRCm39)	S46G	possibly damaging	Het
Meis3	G	T	7: 15,912,695 (GRCm39)	R144L	probably damaging	Het
Obscn	T	C	11: 58,952,474 (GRCm39)	E4162G	probably damaging	Het
Or10ak9	A	T	4: 118,726,118 (GRCm39)	I47F	possibly damaging	Het
Or4m1	T	C	14: 50,558,149 (GRCm39)	T48A	probably benign	Het
Per2	T	C	1: 91,378,333 (GRCm39)	H72R	probably benign	Het
Prdm11	C	T	2: 92,810,967 (GRCm39)	A211T	probably benign	Het
Pygl	A	G	12: 70,244,256 (GRCm39)	S471P	probably damaging	Het
Reln	A	T	5: 22,115,842 (GRCm39)	N3055K	probably damaging	Het
Spata31	A	C	13: 65,068,703 (GRCm39)	N284H	probably benign	Het
Stk36	A	T	1: 74,662,472 (GRCm39)	D530V	probably damaging	Het
Usp24	A	G	4: 106,249,599 (GRCm39)	I1439V	probably benign	Het

Other mutations in Stxbp5l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Stxbp5l	APN	16	37,028,462 (GRCm39)	missense	possibly damaging	0.82
IGL01082:Stxbp5l	APN	16	37,024,940 (GRCm39)	missense	possibly damaging	0.89
IGL01448:Stxbp5l	APN	16	37,036,341 (GRCm39)	missense	probably damaging	0.99
IGL01475:Stxbp5l	APN	16	37,165,454 (GRCm39)	missense	possibly damaging	0.95
IGL01899:Stxbp5l	APN	16	37,020,954 (GRCm39)	missense	probably benign	0.19
IGL02232:Stxbp5l	APN	16	37,150,257 (GRCm39)	missense	probably damaging	1.00
IGL02389:Stxbp5l	APN	16	37,028,567 (GRCm39)	missense	probably benign	0.00
IGL02745:Stxbp5l	APN	16	37,007,016 (GRCm39)	nonsense	probably null
R0058:Stxbp5l	UTSW	16	36,962,736 (GRCm39)	missense	possibly damaging	0.76
R0345:Stxbp5l	UTSW	16	37,108,670 (GRCm39)	missense	probably damaging	1.00
R0359:Stxbp5l	UTSW	16	37,036,440 (GRCm39)	splice site	probably benign
R0454:Stxbp5l	UTSW	16	36,954,646 (GRCm39)	missense	possibly damaging	0.94
R0525:Stxbp5l	UTSW	16	36,950,159 (GRCm39)	critical splice donor site	probably null
R0543:Stxbp5l	UTSW	16	37,028,458 (GRCm39)	missense	probably damaging	1.00
R0606:Stxbp5l	UTSW	16	37,024,883 (GRCm39)	missense	possibly damaging	0.46
R0607:Stxbp5l	UTSW	16	36,962,794 (GRCm39)	missense	probably benign	0.00
R1333:Stxbp5l	UTSW	16	37,068,231 (GRCm39)	critical splice donor site	probably null
R1593:Stxbp5l	UTSW	16	36,936,414 (GRCm39)	missense	probably damaging	0.96
R1605:Stxbp5l	UTSW	16	37,028,473 (GRCm39)	missense	probably benign	0.34
R1670:Stxbp5l	UTSW	16	37,111,289 (GRCm39)	critical splice donor site	probably null
R2077:Stxbp5l	UTSW	16	37,056,637 (GRCm39)	missense	possibly damaging	0.93
R2209:Stxbp5l	UTSW	16	37,036,398 (GRCm39)	missense	probably damaging	0.98
R2504:Stxbp5l	UTSW	16	36,936,029 (GRCm39)	missense	probably damaging	1.00
R2909:Stxbp5l	UTSW	16	37,028,548 (GRCm39)	missense	possibly damaging	0.89
R2917:Stxbp5l	UTSW	16	37,021,004 (GRCm39)	nonsense	probably null
R2918:Stxbp5l	UTSW	16	37,021,004 (GRCm39)	nonsense	probably null
R2935:Stxbp5l	UTSW	16	36,954,551 (GRCm39)	missense	possibly damaging	0.76
R3693:Stxbp5l	UTSW	16	37,061,708 (GRCm39)	nonsense	probably null
R3694:Stxbp5l	UTSW	16	37,061,708 (GRCm39)	nonsense	probably null
R3695:Stxbp5l	UTSW	16	37,061,708 (GRCm39)	nonsense	probably null
R4133:Stxbp5l	UTSW	16	37,028,481 (GRCm39)	missense	possibly damaging	0.80
R4180:Stxbp5l	UTSW	16	37,068,242 (GRCm39)	missense	probably benign	0.05
R4676:Stxbp5l	UTSW	16	37,076,246 (GRCm39)	missense	probably damaging	1.00
R4757:Stxbp5l	UTSW	16	37,008,996 (GRCm39)	missense	probably damaging	1.00
R4758:Stxbp5l	UTSW	16	36,954,592 (GRCm39)	missense	probably benign	0.18
R5105:Stxbp5l	UTSW	16	36,962,734 (GRCm39)	missense	probably benign	0.43
R5278:Stxbp5l	UTSW	16	37,007,016 (GRCm39)	missense	probably benign	0.19
R5358:Stxbp5l	UTSW	16	36,994,688 (GRCm39)	missense	probably damaging	0.99
R5411:Stxbp5l	UTSW	16	36,950,213 (GRCm39)	missense	probably damaging	1.00
R5773:Stxbp5l	UTSW	16	37,028,459 (GRCm39)	missense	probably damaging	1.00
R6539:Stxbp5l	UTSW	16	36,950,177 (GRCm39)	missense	probably damaging	1.00
R6869:Stxbp5l	UTSW	16	37,024,810 (GRCm39)	missense	possibly damaging	0.74
R6892:Stxbp5l	UTSW	16	37,008,991 (GRCm39)	missense	possibly damaging	0.94
R7369:Stxbp5l	UTSW	16	36,954,703 (GRCm39)	missense	probably benign	0.12
R7555:Stxbp5l	UTSW	16	37,143,965 (GRCm39)	missense	probably damaging	1.00
R7657:Stxbp5l	UTSW	16	37,030,534 (GRCm39)	missense	probably null	0.21
R8171:Stxbp5l	UTSW	16	37,028,416 (GRCm39)	missense	noncoding transcript
R8338:Stxbp5l	UTSW	16	36,994,718 (GRCm39)	missense	probably damaging	1.00
R8732:Stxbp5l	UTSW	16	37,061,809 (GRCm39)	missense	probably benign
R8833:Stxbp5l	UTSW	16	37,024,814 (GRCm39)	missense	probably benign	0.44
R8883:Stxbp5l	UTSW	16	37,036,414 (GRCm39)	frame shift	probably null
R8898:Stxbp5l	UTSW	16	37,036,414 (GRCm39)	frame shift	probably null
R8899:Stxbp5l	UTSW	16	37,036,414 (GRCm39)	frame shift	probably null
R8906:Stxbp5l	UTSW	16	37,028,526 (GRCm39)	missense	probably damaging	1.00
R8918:Stxbp5l	UTSW	16	36,954,892 (GRCm39)	missense
R8959:Stxbp5l	UTSW	16	37,036,414 (GRCm39)	frame shift	probably null
R8961:Stxbp5l	UTSW	16	37,036,414 (GRCm39)	frame shift	probably null
R8989:Stxbp5l	UTSW	16	37,036,414 (GRCm39)	frame shift	probably null
R9027:Stxbp5l	UTSW	16	37,165,473 (GRCm39)	missense	probably damaging	1.00
R9044:Stxbp5l	UTSW	16	37,024,930 (GRCm39)	missense	possibly damaging	0.77
R9226:Stxbp5l	UTSW	16	37,076,206 (GRCm39)	missense	probably damaging	0.96
R9284:Stxbp5l	UTSW	16	37,028,442 (GRCm39)	nonsense	probably null
R9351:Stxbp5l	UTSW	16	36,936,047 (GRCm39)	missense	probably damaging	1.00
R9425:Stxbp5l	UTSW	16	36,994,706 (GRCm39)	missense	possibly damaging	0.83
R9545:Stxbp5l	UTSW	16	37,028,625 (GRCm39)	critical splice acceptor site	probably null
R9567:Stxbp5l	UTSW	16	37,061,734 (GRCm39)	missense	probably benign	0.37
R9616:Stxbp5l	UTSW	16	37,036,314 (GRCm39)	missense	probably damaging	1.00
R9781:Stxbp5l	UTSW	16	37,165,485 (GRCm39)	missense	probably benign	0.38
Z1088:Stxbp5l	UTSW	16	37,024,851 (GRCm39)	missense	probably benign

Posted On

2016-08-02