Mutagenetix > Incidental Mutation

Incidental Mutation 'R8548:Stxbp5'

659748

Institutional Source

Beutler Lab

Gene Symbol

Stxbp5

Ensembl Gene

ENSMUSG00000019790

Gene Name

syntaxin binding protein 5 (tomosyn)

Synonyms

LGL3, tomosyn 1, 0710001E20Rik, 4930565N16Rik

MMRRC Submission

068513-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8548 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

9631291-9776823 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 9693050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 359 (D359N)

Ref Sequence

ENSEMBL: ENSMUSP00000044535 (fasta)

Gene Model

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

AlphaFold

Q8K400

Predicted Effect

probably null
Transcript: ENSMUST00000038213
AA Change: D359N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044535
Gene: ENSMUSG00000019790
AA Change: D359N

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 null
Transcript: ENSMUST00000125200
AA Change: D359N

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121507
Gene: ENSMUSG00000019790
AA Change: D359N

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 null
Transcript: ENSMUST00000141722
AA Change: D359N

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123253
Gene: ENSMUSG00000019790
AA Change: D359N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	A	T	5: 121,658,165 (GRCm39)	L376Q	probably damaging	Het
Akirin1	A	G	4: 123,631,831 (GRCm39)	M179T	possibly damaging	Het
Ap5b1	G	T	19: 5,621,123 (GRCm39)	V848L	possibly damaging	Het
Apoa2	T	A	1: 171,053,798 (GRCm39)	M91K	probably benign	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Cdc20	A	C	4: 118,293,535 (GRCm39)	S160A	possibly damaging	Het
Cftr	G	T	6: 18,273,698 (GRCm39)	V839L	possibly damaging	Het
Ctf1	A	T	7: 127,316,564 (GRCm39)	H171L	probably benign	Het
Dmac2	T	A	7: 25,324,217 (GRCm39)	M225K	probably damaging	Het
Dmbx1	A	T	4: 115,777,512 (GRCm39)	V112E	probably damaging	Het
Eloa	T	C	4: 135,732,988 (GRCm39)	K754R	probably damaging	Het
Ern2	G	A	7: 121,777,062 (GRCm39)	T286I	probably damaging	Het
Fam135b	T	C	15: 71,334,659 (GRCm39)	D845G	probably damaging	Het
Fbxl6	T	A	15: 76,421,542 (GRCm39)	M232L	possibly damaging	Het
Gpr171	A	T	3: 59,005,400 (GRCm39)	I125K	probably damaging	Het
Hoxa2	G	A	6: 52,140,098 (GRCm39)	T296I	probably damaging	Het
Hspa8	A	G	9: 40,713,767 (GRCm39)	M87V	probably benign	Het
Ilkap	G	T	1: 91,318,882 (GRCm39)	D31E	possibly damaging	Het
Ints9	T	C	14: 65,269,770 (GRCm39)	S487P	probably benign	Het
Macc1	T	A	12: 119,414,091 (GRCm39)	S756T	probably benign	Het
Map2	A	G	1: 66,452,499 (GRCm39)	D545G	probably damaging	Het
Mapkbp1	A	G	2: 119,854,572 (GRCm39)	N1390D	probably benign	Het
Mgat5	G	A	1: 127,248,409 (GRCm39)	V104M	possibly damaging	Het
Myoz2	T	A	3: 122,827,916 (GRCm39)	M1L	possibly damaging	Het
Nmt1	A	G	11: 102,934,052 (GRCm39)	K64E	possibly damaging	Het
Nr6a1	C	A	2: 38,619,550 (GRCm39)	Q448H	probably damaging	Het
Nr6a1	T	G	2: 38,619,551 (GRCm39)	Q448P	probably damaging	Het
Odf2	T	C	2: 29,783,526 (GRCm39)		probably null	Het
Or8g37	T	A	9: 39,731,537 (GRCm39)	C201S	probably benign	Het
Osbpl6	A	G	2: 76,409,566 (GRCm39)	N476S	possibly damaging	Het
Pclo	A	G	5: 14,732,268 (GRCm39)		probably null	Het
Plxnd1	C	T	6: 115,934,558 (GRCm39)	D1792N	probably damaging	Het
Prdm11	C	T	2: 92,843,103 (GRCm39)	V119M	probably damaging	Het
Prss23	A	G	7: 89,159,416 (GRCm39)	F218L	probably benign	Het
Rflnb	A	G	11: 75,913,047 (GRCm39)	Y114H	probably damaging	Het
Skor2	T	A	18: 76,946,581 (GRCm39)	I101N	unknown	Het
Sp8	A	C	12: 118,812,910 (GRCm39)	Y255S	possibly damaging	Het
Srfbp1	G	A	18: 52,621,463 (GRCm39)	V175I	probably benign	Het
Thnsl1	A	G	2: 21,217,733 (GRCm39)	I496V	possibly damaging	Het
Usp32	G	A	11: 84,908,653 (GRCm39)	P1018S	possibly damaging	Het
Usp7	A	T	16: 8,529,939 (GRCm39)	V142E	possibly damaging	Het

Other mutations in Stxbp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00466:Stxbp5	APN	10	9,675,694 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GTCTCTATTGGACTCTCTGGAGAAATC -3'
(R):5'- CCTTTGTGTTTTATTTCCAGGGAAC -3'

Sequencing Primer
(F):5'- CTCAGTGTCTGTCTTTGAATGATAG -3'
(R):5'- ACCTTTTATTATTTTGTCAGGAGGC -3'

Posted On

2021-01-18