Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00466:Stxbp5'

4771

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stxbp5

Ensembl Gene

ENSMUSG00000019790

Gene Name

syntaxin binding protein 5 (tomosyn)

Synonyms

LGL3, tomosyn 1, 0710001E20Rik, 4930565N16Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00466

Quality Score

Status

Chromosome

Chromosomal Location

9631291-9776823 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9675694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 642 (Y642H)

Ref Sequence

ENSEMBL: ENSMUSP00000121507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038213] [ENSMUST00000125200] [ENSMUST00000136324] [ENSMUST00000141722]

AlphaFold

Q8K400

Predicted Effect

probably damaging
Transcript: ENSMUST00000038213
AA Change: Y642H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000044535
Gene: ENSMUSG00000019790
AA Change: Y642H

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
WD40	46	86	2.21e1	SMART
WD40	88	127	5.94e0	SMART
WD40	132	171	1.97e2	SMART
WD40	185	225	1.99e0	SMART
WD40	228	266	5.69e-4	SMART
Pfam:LLGL	276	385	2e-36	PFAM
WD40	386	465	2.88e-1	SMART
WD40	491	530	3.68e1	SMART
low complexity region	572	591	N/A	INTRINSIC
low complexity region	713	724	N/A	INTRINSIC
Pfam:Lgl_C	771	1050	2.7e-8	PFAM
PDB:1URQ\|A	1086	1145	2e-33	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000125200
AA Change: Y642H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121507
Gene: ENSMUSG00000019790
AA Change: Y642H

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
WD40	46	86	2.21e1	SMART
WD40	88	127	5.94e0	SMART
WD40	132	171	1.97e2	SMART
WD40	185	225	1.99e0	SMART
WD40	228	266	5.69e-4	SMART
Pfam:LLGL	273	385	1.6e-46	PFAM
WD40	386	465	2.88e-1	SMART
WD40	491	530	3.68e1	SMART
low complexity region	572	591	N/A	INTRINSIC
low complexity region	722	730	N/A	INTRINSIC
Pfam:Lgl_C	839	994	1.9e-8	PFAM
PDB:1URQ\|A	1033	1092	2e-33	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000136324

SMART Domains

Protein: ENSMUSP00000123355
Gene: ENSMUSG00000019790

Domain	Start	End	E-Value	Type
low complexity region	98	106	N/A	INTRINSIC
low complexity region	209	230	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139779

Predicted Effect

probably damaging
Transcript: ENSMUST00000141722
AA Change: Y642H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123253
Gene: ENSMUSG00000019790
AA Change: Y642H

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
WD40	46	86	2.21e1	SMART
WD40	88	127	5.94e0	SMART
WD40	132	171	1.97e2	SMART
WD40	185	225	1.99e0	SMART
WD40	228	266	5.69e-4	SMART
Pfam:LLGL	273	385	1.7e-46	PFAM
WD40	386	465	2.88e-1	SMART
WD40	491	530	3.68e1	SMART
low complexity region	572	591	N/A	INTRINSIC
low complexity region	739	747	N/A	INTRINSIC
Pfam:Lgl_C	856	1011	2e-8	PFAM
PDB:1URQ\|A	1050	1109	2e-33	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151435

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar protein dissociates syntaxin 1 from the Munc18/n-Sec1/rbSec1 complex to form a 10S complex, an intermediate which can be converted to the 7S SNARE complex. Thus this protein is thought to be involved in neurotransmitter release by stimulating SNARE complex formation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit some background sensitive prenatal lethality and increased synaptic transmission. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	T	19: 57,056,618 (GRCm39)	A359T	probably damaging	Het
Atm	A	G	9: 53,410,412 (GRCm39)		probably benign	Het
Ccdc59	G	A	10: 105,683,035 (GRCm39)	S240N	probably benign	Het
Ccdc59	A	T	10: 105,683,034 (GRCm39)	S240C	probably benign	Het
Chrm1	A	T	19: 8,655,438 (GRCm39)	I48F	probably benign	Het
Col28a1	T	C	6: 8,022,081 (GRCm39)		probably benign	Het
Gys2	G	A	6: 142,409,016 (GRCm39)	Q80*	probably null	Het
Hck	A	T	2: 152,978,653 (GRCm39)	T289S	probably benign	Het
Il1rapl2	A	G	X: 137,735,292 (GRCm39)	D403G	probably damaging	Het
Kif16b	A	T	2: 142,689,955 (GRCm39)	L319*	probably null	Het
Kit	T	C	5: 75,771,479 (GRCm39)	I212T	probably benign	Het
Mroh5	G	A	15: 73,664,638 (GRCm39)		probably benign	Het
Muc6	T	C	7: 141,232,169 (GRCm39)	Y986C	possibly damaging	Het
Nln	A	C	13: 104,172,153 (GRCm39)	V641G	probably damaging	Het
Nyap2	C	A	1: 81,169,695 (GRCm39)	L151I	probably damaging	Het
Plce1	A	G	19: 38,709,473 (GRCm39)	Y1109C	probably damaging	Het
Slc10a4	T	C	5: 73,169,263 (GRCm39)	I296T	probably damaging	Het
Slc35c1	T	A	2: 92,284,703 (GRCm39)	I304F	probably benign	Het
Stxbp2	C	T	8: 3,684,065 (GRCm39)	A124V	probably benign	Het
Tecta	T	C	9: 42,243,844 (GRCm39)	T2003A	probably damaging	Het
Zfp804a	C	A	2: 81,884,219 (GRCm39)	L29I	probably benign	Het

Other mutations in Stxbp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Stxbp5	APN	10	9,684,346 (GRCm39)	splice site	probably benign
IGL01725:Stxbp5	APN	10	9,693,155 (GRCm39)	missense	probably damaging	1.00
IGL02150:Stxbp5	APN	10	9,638,565 (GRCm39)	missense	probably damaging	1.00
IGL02339:Stxbp5	APN	10	9,692,041 (GRCm39)	missense	possibly damaging	0.89
IGL02697:Stxbp5	APN	10	9,638,700 (GRCm39)	nonsense	probably null
IGL02720:Stxbp5	APN	10	9,665,105 (GRCm39)	critical splice donor site	probably null
IGL03155:Stxbp5	APN	10	9,692,034 (GRCm39)	missense	probably null	1.00
IGL03288:Stxbp5	APN	10	9,742,447 (GRCm39)	splice site	probably null
Fatty_fish	UTSW	10	9,646,295 (GRCm39)	missense	probably damaging	1.00
reindeer	UTSW	10	9,713,836 (GRCm39)	missense	probably damaging	1.00
H8562:Stxbp5	UTSW	10	9,645,187 (GRCm39)	missense	probably benign	0.36
PIT4544001:Stxbp5	UTSW	10	9,693,048 (GRCm39)	critical splice donor site	probably null
R0025:Stxbp5	UTSW	10	9,638,492 (GRCm39)	missense	probably damaging	1.00
R0025:Stxbp5	UTSW	10	9,638,492 (GRCm39)	missense	probably damaging	1.00
R0219:Stxbp5	UTSW	10	9,646,272 (GRCm39)	missense	probably benign	0.36
R0226:Stxbp5	UTSW	10	9,742,442 (GRCm39)	splice site	probably benign
R0631:Stxbp5	UTSW	10	9,660,102 (GRCm39)	missense	probably benign
R0723:Stxbp5	UTSW	10	9,644,617 (GRCm39)	missense	probably damaging	1.00
R0833:Stxbp5	UTSW	10	9,740,843 (GRCm39)	missense	probably damaging	1.00
R0836:Stxbp5	UTSW	10	9,740,843 (GRCm39)	missense	probably damaging	1.00
R0863:Stxbp5	UTSW	10	9,684,784 (GRCm39)	missense	possibly damaging	0.86
R1225:Stxbp5	UTSW	10	9,688,135 (GRCm39)	missense	possibly damaging	0.94
R1271:Stxbp5	UTSW	10	9,692,013 (GRCm39)	missense	probably damaging	1.00
R1536:Stxbp5	UTSW	10	9,713,836 (GRCm39)	missense	probably damaging	1.00
R1852:Stxbp5	UTSW	10	9,688,042 (GRCm39)	missense	possibly damaging	0.94
R1884:Stxbp5	UTSW	10	9,688,042 (GRCm39)	missense	possibly damaging	0.94
R1902:Stxbp5	UTSW	10	9,688,042 (GRCm39)	missense	possibly damaging	0.94
R1917:Stxbp5	UTSW	10	9,688,042 (GRCm39)	missense	possibly damaging	0.94
R1918:Stxbp5	UTSW	10	9,688,042 (GRCm39)	missense	possibly damaging	0.94
R2174:Stxbp5	UTSW	10	9,711,590 (GRCm39)	missense	possibly damaging	0.69
R3773:Stxbp5	UTSW	10	9,644,671 (GRCm39)	missense	probably damaging	1.00
R3901:Stxbp5	UTSW	10	9,645,163 (GRCm39)	missense	probably damaging	1.00
R3981:Stxbp5	UTSW	10	9,665,060 (GRCm39)	intron	probably benign
R4572:Stxbp5	UTSW	10	9,713,888 (GRCm39)	missense	probably damaging	0.99
R4764:Stxbp5	UTSW	10	9,646,367 (GRCm39)	missense	probably damaging	1.00
R4841:Stxbp5	UTSW	10	9,638,635 (GRCm39)	missense	probably benign	0.06
R4842:Stxbp5	UTSW	10	9,638,635 (GRCm39)	missense	probably benign	0.06
R4884:Stxbp5	UTSW	10	9,688,085 (GRCm39)	nonsense	probably null
R4887:Stxbp5	UTSW	10	9,684,844 (GRCm39)	missense	probably benign
R4930:Stxbp5	UTSW	10	9,636,610 (GRCm39)	utr 3 prime	probably benign
R5065:Stxbp5	UTSW	10	9,646,295 (GRCm39)	missense	probably damaging	1.00
R5285:Stxbp5	UTSW	10	9,674,019 (GRCm39)	critical splice acceptor site	probably null
R5306:Stxbp5	UTSW	10	9,675,735 (GRCm39)	missense	probably damaging	1.00
R5455:Stxbp5	UTSW	10	9,684,252 (GRCm39)	missense	probably benign
R5531:Stxbp5	UTSW	10	9,638,668 (GRCm39)	nonsense	probably null
R5605:Stxbp5	UTSW	10	9,645,490 (GRCm39)	intron	probably benign
R5614:Stxbp5	UTSW	10	9,636,638 (GRCm39)	utr 3 prime	probably benign
R5805:Stxbp5	UTSW	10	9,776,330 (GRCm39)	missense	probably benign
R5990:Stxbp5	UTSW	10	9,711,677 (GRCm39)	missense	probably damaging	1.00
R6025:Stxbp5	UTSW	10	9,675,772 (GRCm39)	missense	probably benign	0.00
R6056:Stxbp5	UTSW	10	9,646,430 (GRCm39)	missense	probably benign	0.00
R6147:Stxbp5	UTSW	10	9,684,216 (GRCm39)	missense	possibly damaging	0.93
R6194:Stxbp5	UTSW	10	9,693,083 (GRCm39)	missense	probably damaging	0.99
R6284:Stxbp5	UTSW	10	9,642,931 (GRCm39)	missense	probably damaging	1.00
R6284:Stxbp5	UTSW	10	9,642,923 (GRCm39)	missense	probably benign	0.32
R6394:Stxbp5	UTSW	10	9,774,975 (GRCm39)	nonsense	probably null
R6427:Stxbp5	UTSW	10	9,774,998 (GRCm39)	missense	probably damaging	1.00
R6894:Stxbp5	UTSW	10	9,660,105 (GRCm39)	missense	probably benign	0.00
R7229:Stxbp5	UTSW	10	9,673,931 (GRCm39)	missense	probably damaging	1.00
R7337:Stxbp5	UTSW	10	9,684,874 (GRCm39)	missense	possibly damaging	0.93
R7686:Stxbp5	UTSW	10	9,645,154 (GRCm39)	missense	probably damaging	0.99
R7811:Stxbp5	UTSW	10	9,684,248 (GRCm39)	missense	probably benign
R7974:Stxbp5	UTSW	10	9,646,439 (GRCm39)	splice site	probably null
R8009:Stxbp5	UTSW	10	9,692,046 (GRCm39)	missense	probably damaging	1.00
R8287:Stxbp5	UTSW	10	9,660,129 (GRCm39)	missense	probably benign
R8353:Stxbp5	UTSW	10	9,684,792 (GRCm39)	missense	probably benign	0.30
R8360:Stxbp5	UTSW	10	9,688,003 (GRCm39)	critical splice donor site	probably null
R8453:Stxbp5	UTSW	10	9,684,792 (GRCm39)	missense	probably benign	0.30
R8487:Stxbp5	UTSW	10	9,688,033 (GRCm39)	missense	possibly damaging	0.80
R8548:Stxbp5	UTSW	10	9,693,050 (GRCm39)	missense	probably null	0.98
R8805:Stxbp5	UTSW	10	9,713,859 (GRCm39)	nonsense	probably null
R9172:Stxbp5	UTSW	10	9,645,152 (GRCm39)	missense	possibly damaging	0.94
R9472:Stxbp5	UTSW	10	9,719,101 (GRCm39)	missense	probably damaging	1.00
R9513:Stxbp5	UTSW	10	9,687,754 (GRCm39)	missense	probably benign	0.17
R9649:Stxbp5	UTSW	10	9,774,938 (GRCm39)	missense	probably damaging	0.96
X0020:Stxbp5	UTSW	10	9,638,634 (GRCm39)	missense	possibly damaging	0.47
Z1176:Stxbp5	UTSW	10	9,776,289 (GRCm39)	missense	possibly damaging	0.88

Posted On

2012-04-20