Mutagenetix > Incidental Mutation

Incidental Mutation 'R7345:Stx1a'

570138

Institutional Source

Beutler Lab

Gene Symbol

Stx1a

Ensembl Gene

ENSMUSG00000007207

Gene Name

syntaxin 1A (brain)

Synonyms

HPC-1

MMRRC Submission

045379-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135052336-135079954 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135066042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 31 (D31E)

Ref Sequence

ENSEMBL: ENSMUSP00000005509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005509] [ENSMUST00000150838] [ENSMUST00000201008]

AlphaFold

O35526

Predicted Effect

probably benign
Transcript: ENSMUST00000005509
AA Change: D31E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000005509
Gene: ENSMUSG00000007207
AA Change: D31E

Domain	Start	End	E-Value	Type
SynN	25	146	4.44e-42	SMART
t_SNARE	187	254	3.28e-24	SMART
transmembrane domain	266	287	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150838
AA Change: D31E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000117144
Gene: ENSMUSG00000007207
AA Change: D31E

Domain	Start	End	E-Value	Type
SynN	25	146	4.44e-42	SMART
Pfam:SNARE	197	231	6.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201008
AA Change: D31E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000144082
Gene: ENSMUSG00000007207
AA Change: D31E

Domain	Start	End	E-Value	Type
SynN	25	121	1.3e-23	SMART

Coding Region Coverage

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

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins possess a single C-terminal transmembrane domain, a SNARE [Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment protein REceptor] domain (known as H3), and an N-terminal regulatory domain (Habc). Syntaxins bind synaptotagmin in a calcium-dependent fashion and interact with voltage dependent calcium and potassium channels via the C-terminal H3 domain. This gene product is a key molecule in ion channel regulation and synaptic exocytosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous mice for one targeted mutation display impairments in LTP, cued fear memory consolidation and cued fear memory extinction while mice with another targeted mutation show no behavioral abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks3	A	G	16: 4,773,774 (GRCm39)	M174T	possibly damaging	Het
Arhgap23	G	A	11: 97,357,304 (GRCm39)	R934Q	possibly damaging	Het
Atad5	T	C	11: 79,986,832 (GRCm39)	S640P	probably damaging	Het
B3galnt2	C	T	13: 14,155,065 (GRCm39)		probably null	Het
B430305J03Rik	T	C	3: 61,271,539 (GRCm39)	S69G	unknown	Het
Cd163	A	T	6: 124,295,897 (GRCm39)	N747I	possibly damaging	Het
Cep126	A	G	9: 8,099,817 (GRCm39)	S906P	probably damaging	Het
Cimip2b	T	C	4: 43,428,022 (GRCm39)	D145G	possibly damaging	Het
Cyp4f39	G	A	17: 32,705,753 (GRCm39)	G318R	probably damaging	Het
D630003M21Rik	C	T	2: 158,059,129 (GRCm39)	G257D	probably damaging	Het
Dcaf10	T	C	4: 45,342,583 (GRCm39)	L139P	probably damaging	Het
Dcc	A	G	18: 71,511,895 (GRCm39)	V840A	probably benign	Het
Dnhd1	A	T	7: 105,353,174 (GRCm39)	I2776L	probably benign	Het
Fbxo24	G	T	5: 137,619,523 (GRCm39)	F234L	probably damaging	Het
Gm21190	T	C	5: 15,732,902 (GRCm39)		probably null	Het
Grhl3	C	T	4: 135,273,557 (GRCm39)	R565Q	probably damaging	Het
Gtf3c1	A	T	7: 125,244,842 (GRCm39)	Y1731N	probably damaging	Het
Il1a	C	A	2: 129,146,693 (GRCm39)	R133S	probably benign	Het
Ipo4	C	T	14: 55,872,988 (GRCm39)	R23Q	probably benign	Het
Klc3	G	A	7: 19,128,814 (GRCm39)	T481M	probably benign	Het
Map2k6	A	T	11: 110,383,734 (GRCm39)	I127F		Het
Mapk8	A	T	14: 33,130,068 (GRCm39)	N63K	probably damaging	Het
Med13l	T	C	5: 118,880,825 (GRCm39)	W1306R	probably damaging	Het
Megf6	C	A	4: 154,351,772 (GRCm39)	Q1162K	probably benign	Het
Myo5b	A	G	18: 74,841,095 (GRCm39)	E992G	possibly damaging	Het
Ndst4	C	T	3: 125,508,308 (GRCm39)	T291M	probably benign	Het
Nek10	T	A	14: 14,955,503 (GRCm38)	F838L	probably benign	Het
Nrm	A	G	17: 36,175,476 (GRCm39)	H194R	probably damaging	Het
Nup188	T	C	2: 30,230,613 (GRCm39)	S1384P	probably benign	Het
Olfml2a	C	A	2: 38,850,139 (GRCm39)	D618E	probably damaging	Het
Or5p78	C	T	7: 108,212,270 (GRCm39)	T252I	probably benign	Het
Or8g23	A	G	9: 38,971,875 (GRCm39)	L29P	probably damaging	Het
Or8g24	G	A	9: 38,989,630 (GRCm39)	S137F	probably damaging	Het
Or9s18	A	C	13: 65,300,557 (GRCm39)	N173T	possibly damaging	Het
P2ry1	T	C	3: 60,911,095 (GRCm39)	F78S	possibly damaging	Het
Pcdhb18	T	C	18: 37,624,976 (GRCm39)	F769L	probably benign	Het
Poc5	A	G	13: 96,533,304 (GRCm39)	E144G	probably damaging	Het
Pole	T	A	5: 110,451,769 (GRCm39)	N870K	possibly damaging	Het
Polr2b	T	C	5: 77,496,966 (GRCm39)	F1159L	possibly damaging	Het
Pramel32	T	C	4: 88,546,416 (GRCm39)	K309E	possibly damaging	Het
Rubcnl	A	G	14: 75,279,793 (GRCm39)	Y392C	probably benign	Het
Sec31a	T	C	5: 100,533,129 (GRCm39)	T539A	probably damaging	Het
Serpinh1	A	C	7: 98,995,563 (GRCm39)	S340A	probably damaging	Het
Slc1a5	T	A	7: 16,530,085 (GRCm39)		probably null	Het
Soat2	A	G	15: 102,071,013 (GRCm39)	D469G	probably benign	Het
Speg	T	C	1: 75,361,479 (GRCm39)	L70P	probably damaging	Het
Spred2	T	C	11: 19,874,958 (GRCm39)		probably null	Het
Stac2	A	C	11: 97,933,439 (GRCm39)	S168A	probably damaging	Het
Timeless	C	T	10: 128,085,623 (GRCm39)	T885M	probably damaging	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tsen34	T	C	7: 3,698,614 (GRCm39)	Y253H	probably damaging	Het
Unc13b	T	C	4: 43,173,966 (GRCm39)	V1598A	unknown	Het
Zfat	A	T	15: 67,976,892 (GRCm39)	Y1086N	probably damaging	Het
Zfp551	G	A	7: 12,150,522 (GRCm39)	H296Y	probably benign	Het

Other mutations in Stx1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01337:Stx1a	APN	5	135,074,518 (GRCm39)	missense	probably damaging	0.99
IGL01956:Stx1a	APN	5	135,066,323 (GRCm39)	splice site	probably benign
IGL02448:Stx1a	APN	5	135,052,473 (GRCm39)	splice site	probably benign
R0140:Stx1a	UTSW	5	135,074,439 (GRCm39)	splice site	probably benign
R0840:Stx1a	UTSW	5	135,070,088 (GRCm39)	intron	probably benign
R5810:Stx1a	UTSW	5	135,077,932 (GRCm39)	missense	probably damaging	0.99
R7536:Stx1a	UTSW	5	135,078,694 (GRCm39)	missense	probably damaging	1.00
R8085:Stx1a	UTSW	5	135,066,431 (GRCm39)	critical splice donor site	probably null
R9295:Stx1a	UTSW	5	135,066,370 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- ACTACTGGTAGGGGACATGG -3'
(R):5'- TCAAACTGGCTCACACTGG -3'

Sequencing Primer
(F):5'- CAGGTTGTCTGTCTCTGGGACTC -3'
(R):5'- ACTGGCTCACACTGGAGCAC -3'

Posted On

2019-09-13