Mutagenetix > Incidental Mutation

Incidental Mutation 'R6161:Syt1'

489880

Institutional Source

Beutler Lab

Gene Symbol

Syt1

Ensembl Gene

ENSMUSG00000035864

Gene Name

synaptotagmin I

Synonyms

MMRRC Submission

044308-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108497650-109010982 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108631807 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 210 (F210L)

Ref Sequence

ENSEMBL: ENSMUSP00000100912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064054] [ENSMUST00000105276]

AlphaFold

P46096

Predicted Effect

probably damaging
Transcript: ENSMUST00000064054
AA Change: F210L

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

SMART Domains

Protein: ENSMUSP00000063293
Gene: ENSMUSG00000035864
AA Change: F210L

Domain	Start	End	E-Value	Type
low complexity region	9	22	N/A	INTRINSIC
PDB:4ISQ\|F	32	52	1e-5	PDB
transmembrane domain	57	79	N/A	INTRINSIC
low complexity region	131	141	N/A	INTRINSIC
C2	157	259	3.2e-25	SMART
C2	288	402	5.8e-26	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105276
AA Change: F210L

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

SMART Domains

Protein: ENSMUSP00000100912
Gene: ENSMUSG00000035864
AA Change: F210L

Domain	Start	End	E-Value	Type
low complexity region	9	22	N/A	INTRINSIC
PDB:4ISQ\|F	32	52	1e-5	PDB
transmembrane domain	57	79	N/A	INTRINSIC
low complexity region	131	141	N/A	INTRINSIC
C2	157	259	3.2e-25	SMART
C2	288	402	5.9e-26	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156979

SMART Domains

Protein: ENSMUSP00000116981
Gene: ENSMUSG00000035864

Domain	Start	End	E-Value	Type
low complexity region	9	22	N/A	INTRINSIC
PDB:4ISQ\|F	32	52	7e-6	PDB
transmembrane domain	57	79	N/A	INTRINSIC
low complexity region	128	138	N/A	INTRINSIC
C2	154	236	2.83e-6	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.9%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM, Jul 2010]
PHENOTYPE: Homozygous null mice do not suckle, show impaired synaptic transmission and Ca2+-evoked neurotransmitter release, and die by 48 hrs of life. Knock-in mice bearing a missense mutation show enhanced synaptic depression while those carrying a point mutationshow reduced synaptic release probability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,540,711 (GRCm38)	K1533M	probably damaging	Het
Aldh1l2	C	T	10: 83,520,338 (GRCm38)	V63I	probably benign	Het
Atr	A	G	9: 95,865,319 (GRCm38)	H218R	probably benign	Het
Atxn7l1	T	A	12: 33,358,663 (GRCm38)	S275T	possibly damaging	Het
Cacna1c	T	C	6: 119,057,302 (GRCm38)	K88R	probably damaging	Het
Ccl7	T	C	11: 82,046,586 (GRCm38)	Y49H	probably damaging	Het
Cd3eap	G	A	7: 19,357,633 (GRCm38)	T183I	possibly damaging	Het
Cers5	A	G	15: 99,738,663 (GRCm38)		probably null	Het
Chuk	T	C	19: 44,082,637 (GRCm38)	E543G	probably damaging	Het
Dip2c	T	C	13: 9,647,007 (GRCm38)	V1318A	probably damaging	Het
Ercc5	A	G	1: 44,167,352 (GRCm38)	H475R	probably benign	Het
Fat3	A	G	9: 16,377,522 (GRCm38)	L235P	probably damaging	Het
Fbn1	A	T	2: 125,369,801 (GRCm38)	C892*	probably null	Het
Fbxw8	T	C	5: 118,092,675 (GRCm38)	T354A	possibly damaging	Het
Fsip2	A	C	2: 82,987,257 (GRCm38)	T4445P	possibly damaging	Het
Gpld1	A	T	13: 24,971,414 (GRCm38)	Q344L	probably benign	Het
Hao1	A	T	2: 134,505,625 (GRCm38)	D253E	probably benign	Het
Hmcn2	A	G	2: 31,356,254 (GRCm38)	D745G	probably benign	Het
Kcnt1	A	G	2: 25,903,385 (GRCm38)	T658A	probably benign	Het
Klhl35	A	G	7: 99,473,337 (GRCm38)		probably benign	Het
Lnx2	C	T	5: 147,042,026 (GRCm38)		probably null	Het
Map3k5	T	C	10: 20,000,575 (GRCm38)	V160A	probably damaging	Het
Masp2	A	T	4: 148,614,012 (GRCm38)	I517F	possibly damaging	Het
Mc4r	A	T	18: 66,859,180 (GRCm38)	Y287*	probably null	Het
Mthfr	A	G	4: 148,041,754 (GRCm38)	D94G	probably benign	Het
Muc16	A	G	9: 18,647,818 (GRCm38)	I2393T	unknown	Het
Mybbp1a	G	T	11: 72,446,012 (GRCm38)	V557L	probably damaging	Het
Mycbp2	A	T	14: 103,298,747 (GRCm38)	W256R	probably damaging	Het
Nacad	G	A	11: 6,600,902 (GRCm38)	S763L	probably benign	Het
Nebl	A	G	2: 17,730,830 (GRCm38)	V11A	probably benign	Het
Notch1	A	T	2: 26,468,731 (GRCm38)	C1363S	probably damaging	Het
Nphp3	A	G	9: 104,031,906 (GRCm38)	N772D	probably benign	Het
Nqo2	G	A	13: 33,979,651 (GRCm38)	V98M	probably damaging	Het
Pak4	A	G	7: 28,565,267 (GRCm38)	I70T	possibly damaging	Het
Pbx2	A	G	17: 34,593,600 (GRCm38)	K2E	probably damaging	Het
Pikfyve	A	G	1: 65,216,043 (GRCm38)	T352A	probably benign	Het
Pop1	T	C	15: 34,526,310 (GRCm38)	Y684H	probably damaging	Het
Rpa1	A	G	11: 75,314,895 (GRCm38)	V212A	probably damaging	Het
Rpap2	A	G	5: 107,620,670 (GRCm38)	E458G	probably damaging	Het
Sin3a	T	C	9: 57,095,424 (GRCm38)	V200A	possibly damaging	Het
Sla	T	C	15: 66,782,598 (GRCm38)	T280A	probably null	Het
Slc22a26	A	T	19: 7,786,447 (GRCm38)	I406K	possibly damaging	Het
Slc24a1	T	C	9: 64,937,263 (GRCm38)	N606S	unknown	Het
Slc39a10	G	A	1: 46,827,407 (GRCm38)	T443M	probably damaging	Het
Smg1	A	T	7: 118,163,330 (GRCm38)		probably benign	Het
Sra1	G	A	18: 36,670,283 (GRCm38)	A9V	probably damaging	Het
Stard4	A	G	18: 33,209,056 (GRCm38)	V47A	probably damaging	Het
Stat4	A	T	1: 52,074,677 (GRCm38)	D182V	possibly damaging	Het
Ube2q1	T	A	3: 89,781,360 (GRCm38)		probably null	Het
Vmn1r159	C	T	7: 22,843,187 (GRCm38)	C140Y	possibly damaging	Het
Wnt8a	T	C	18: 34,545,546 (GRCm38)	F138L	possibly damaging	Het
Zfp623	T	A	15: 75,948,621 (GRCm38)	D475E	probably benign	Het
Zfp646	C	T	7: 127,878,725 (GRCm38)	R25W	probably damaging	Het

Other mutations in Syt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01793:Syt1	APN	10	108,583,975 (GRCm38)	missense	possibly damaging	0.49
R1067:Syt1	UTSW	10	108,636,662 (GRCm38)	missense	probably benign
R1300:Syt1	UTSW	10	108,631,821 (GRCm38)	missense	possibly damaging	0.95
R1370:Syt1	UTSW	10	108,690,922 (GRCm38)	missense	probably damaging	0.98
R1575:Syt1	UTSW	10	108,504,500 (GRCm38)	missense	probably benign	0.04
R1656:Syt1	UTSW	10	108,583,915 (GRCm38)	missense	probably damaging	1.00
R2072:Syt1	UTSW	10	108,583,972 (GRCm38)	missense	probably damaging	1.00
R2212:Syt1	UTSW	10	108,504,414 (GRCm38)	missense	possibly damaging	0.89
R2429:Syt1	UTSW	10	108,690,920 (GRCm38)	missense	possibly damaging	0.86
R4928:Syt1	UTSW	10	108,504,512 (GRCm38)	missense	possibly damaging	0.95
R5216:Syt1	UTSW	10	108,642,257 (GRCm38)	missense	probably benign	0.00
R6193:Syt1	UTSW	10	108,500,736 (GRCm38)	missense	probably benign	0.38
R7033:Syt1	UTSW	10	108,690,936 (GRCm38)	missense	probably benign
R7535:Syt1	UTSW	10	108,627,422 (GRCm38)	critical splice acceptor site	probably null
R7574:Syt1	UTSW	10	108,504,401 (GRCm38)	missense	probably damaging	1.00
R7913:Syt1	UTSW	10	108,642,248 (GRCm38)	missense	probably benign	0.00
R8003:Syt1	UTSW	10	108,636,573 (GRCm38)	missense	probably damaging	1.00
R8829:Syt1	UTSW	10	108,642,332 (GRCm38)	missense	probably benign	0.07
R9114:Syt1	UTSW	10	108,504,515 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATTCTATGCTGAAATGGCAC -3'
(R):5'- GTGCTCACCCTGTGTGTTAC -3'

Sequencing Primer
(F):5'- TGCAACACAGAATCTTCACTAGACTG -3'
(R):5'- ACCCTGTGTGTTACTCGTTTG -3'

Posted On

2017-10-10