Mutagenetix > Incidental Mutations

Incidental Mutation 'R7746:Syt4'

596868

Institutional Source

Beutler Lab

Gene Symbol

Syt4

Ensembl Gene

ENSMUSG00000024261

Gene Name

synaptotagmin IV

Synonyms

MMRRC Submission

Accession Numbers

Genbank: NM_009308; MGI: 101759

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7746 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31437808-31447415 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31444265 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 12 (D12V)

Ref Sequence

ENSEMBL: ENSMUSP00000025110 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025110]

Predicted Effect

probably benign
Transcript: ENSMUST00000025110
AA Change: D12V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000025110
Gene: ENSMUSG00000024261
AA Change: D12V

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
low complexity region	68	79	N/A	INTRINSIC
low complexity region	137	150	N/A	INTRINSIC
C2	169	273	1.5e-19	SMART
C2	303	417	3.5e-20	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene belongs to the synaptotagmin family. Members of this family are multi-domained, integral membrane proteins of synaptic vesicles, and are thought to serve as Ca2+ sensors in the process of vesicular trafficking and exocytosis. This gene is primarily expressed in the nervous tissues. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impairments in motor coordination, contextual fear conditioning, and social transmission of food preference. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,728,995	Q184L	probably benign	Het
9030624G23Rik	T	G	12: 24,074,673	S68R	possibly damaging	Het
Acyp1	G	T	12: 85,279,058	R56S	unknown	Het
Angpt2	C	T	8: 18,692,064	R492Q	probably damaging	Het
Ankrd36	T	C	11: 5,687,451	L1340P	possibly damaging	Het
Arhgef33	G	C	17: 80,347,120		probably null	Het
Bach1	G	A	16: 87,729,633	S661N	probably benign	Het
Bik	T	C	15: 83,541,334	I12T	possibly damaging	Het
C3	C	T	17: 57,218,859	R841H	probably damaging	Het
Cacna1s	G	T	1: 136,069,018	R119L	probably damaging	Het
Cic	G	A	7: 25,288,782	V1632M	probably damaging	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,471,803		probably benign	Het
Dchs2	A	G	3: 83,128,057	H37R	possibly damaging	Het
Dvl1	A	G	4: 155,856,239	I439V	possibly damaging	Het
Fam19a1	T	C	6: 96,115,756		probably null	Het
Fat1	G	A	8: 44,951,633	D474N	probably damaging	Het
Foxs1	T	A	2: 152,933,108	E8D	probably benign	Het
Garnl3	T	C	2: 32,992,257	D822G	probably damaging	Het
Gm11397	A	T	13: 33,397,858	I133L	probably damaging	Het
Gm11756	C	T	4: 73,919,862	S29N	possibly damaging	Het
Gm44501	C	T	17: 40,578,829	A78V	possibly damaging	Het
Gpr19	C	A	6: 134,869,392	A443S	probably damaging	Het
Helb	T	C	10: 120,095,102	R729G	probably null	Het
Lnpep	G	T	17: 17,538,562	T840K	probably benign	Het
Mctp2	T	C	7: 72,185,796	N551S	probably benign	Het
Mgam	T	G	6: 40,668,193	F635V	probably damaging	Het
Mlc1	G	A	15: 88,964,170	A262V	probably damaging	Het
Muc5b	A	G	7: 141,862,239	Y2974C	probably benign	Het
Nprl3	A	T	11: 32,248,150	Y208*	probably null	Het
Olfr1090	A	T	2: 86,754,093	L215Q	probably damaging	Het
Olfr136	C	T	17: 38,335,394	P79L	probably benign	Het
Pkn2	A	G	3: 142,794,107	F915S	probably damaging	Het
Pkn3	G	A	2: 30,090,584	C829Y	probably benign	Het
Polr1a	C	T	6: 71,941,512	P685S	probably damaging	Het
Ppp4r3b	A	G	11: 29,173,352	D16G	probably benign	Het
Ppwd1	C	T	13: 104,217,206	R348H	probably damaging	Het
Pxdc1	T	C	13: 34,639,063	T98A	probably benign	Het
Rhbdl1	T	C	17: 25,836,193	I68V	probably benign	Het
Ror2	A	G	13: 53,117,225	C365R	probably damaging	Het
Samd4b	A	T	7: 28,403,903	H43Q	probably damaging	Het
Sbf2	A	T	7: 110,441,426	V398D	probably benign	Het
Sbno2	T	C	10: 80,058,874	I1012M	probably damaging	Het
Strn	T	C	17: 78,677,372	T281A	probably benign	Het
Tmem45a	A	G	16: 56,825,737	L40P	probably damaging	Het
Tnn	G	A	1: 160,114,685	P1081L	probably damaging	Het
Unc80	T	C	1: 66,677,385	V2888A	probably benign	Het

Other mutations in Syt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Syt4	APN	18	31447174	utr 5 prime	probably benign
IGL01476:Syt4	APN	18	31441643	missense	probably damaging	1.00
IGL02412:Syt4	APN	18	31443843	missense	probably benign	0.19
IGL02550:Syt4	APN	18	31444193	missense	probably damaging	1.00
IGL02996:Syt4	APN	18	31444146	missense	probably damaging	1.00
F6893:Syt4	UTSW	18	31444221	missense	possibly damaging	0.74
PIT4434001:Syt4	UTSW	18	31440331	missense	probably damaging	1.00
R0103:Syt4	UTSW	18	31447220	start gained	probably benign
R0526:Syt4	UTSW	18	31443746	missense	possibly damaging	0.95
R1122:Syt4	UTSW	18	31440202	missense	probably damaging	1.00
R1622:Syt4	UTSW	18	31444016	missense	probably damaging	1.00
R1786:Syt4	UTSW	18	31443443	splice site	probably benign
R1895:Syt4	UTSW	18	31444088	missense	probably damaging	1.00
R2114:Syt4	UTSW	18	31440467	missense	probably damaging	1.00
R2117:Syt4	UTSW	18	31440467	missense	probably damaging	1.00
R2655:Syt4	UTSW	18	31443544	missense	probably benign	0.01
R3079:Syt4	UTSW	18	31441685	missense	probably benign	0.08
R3730:Syt4	UTSW	18	31444136	missense	probably damaging	0.96
R4870:Syt4	UTSW	18	31447356	start gained	probably benign
R7638:Syt4	UTSW	18	31443822	missense	probably benign	0.20
R7646:Syt4	UTSW	18	31441605	missense	possibly damaging	0.95
R7799:Syt4	UTSW	18	31440192	nonsense	probably null
R8174:Syt4	UTSW	18	31444177	missense	probably benign	0.00
R8199:Syt4	UTSW	18	31444215	missense	probably benign	0.30
R8428:Syt4	UTSW	18	31444019	missense	probably damaging	1.00
R8436:Syt4	UTSW	18	31440419	missense	possibly damaging	0.93
R8487:Syt4	UTSW	18	31443737	missense	possibly damaging	0.65
Y5404:Syt4	UTSW	18	31443791	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTAGGTCAAGATGCAGGG -3'
(R):5'- GACCTCAGGTTAGTGGGAAAC -3'

Sequencing Primer
(F):5'- AGAGCGGCTTTACCCTTCAC -3'
(R):5'- GTGGGAAACATCACCATTACTCGTG -3'

Posted On

2019-11-26