Mutagenetix > Incidental Mutation

Incidental Mutation 'R1522:Syt5'

167521

Institutional Source

Beutler Lab

Gene Symbol

Syt5

Ensembl Gene

ENSMUSG00000004961

Gene Name

synaptotagmin V

Synonyms

SytIX

MMRRC Submission

040871-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R1522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4542764-4550540 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4543245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 338 (E338G)

Ref Sequence

ENSEMBL: ENSMUSP00000070322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065957]

AlphaFold

Q9R0N5

Predicted Effect

probably damaging
Transcript: ENSMUST00000065957
AA Change: E338G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000070322
Gene: ENSMUSG00000004961
AA Change: E338G

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
C2	124	226	2.8e-19	SMART
C2	255	369	4.76e-22	SMART
low complexity region	375	386	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Synaptotagmins, such as SYT5, are a family of type III membrane proteins characterized by cytoplasmic repeats related to protein kinase C (see MIM 176960) regulatory (C2) domains, which are thought to bind calcium. Synaptotagmins may act both as negative regulators of vesicle fusion, allowing fusion in the presence of calcium, and as calcium receptors or sensor molecules (summary by Hudson and Birnbaum, 1995 [PubMed 7597049]).[supplied by OMIM, Feb 2011]
PHENOTYPE: About 50% of mice homozygous for a knock-out allele exhibit prenatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	C	6: 83,139,568 (GRCm39)	S498P	probably damaging	Het
3100002H09Rik	A	G	4: 124,504,487 (GRCm39)	W22R	probably damaging	Het
AA986860	A	G	1: 130,670,831 (GRCm39)	E351G	probably damaging	Het
Acsl5	T	C	19: 55,268,924 (GRCm39)	V195A	probably benign	Het
Actmap	A	G	7: 26,902,105 (GRCm39)	H244R	probably damaging	Het
Adamts10	A	G	17: 33,756,293 (GRCm39)	D312G	probably benign	Het
Adgrb1	A	G	15: 74,452,466 (GRCm39)	M211V	probably damaging	Het
Ankfy1	C	T	11: 72,646,693 (GRCm39)	R859*	probably null	Het
Atp8b1	T	A	18: 64,683,503 (GRCm39)	I742L	probably benign	Het
B3galnt2	T	A	13: 14,145,354 (GRCm39)	V89E	probably damaging	Het
Brinp3	A	C	1: 146,777,628 (GRCm39)	T692P	probably damaging	Het
C9	T	A	15: 6,516,243 (GRCm39)	F349I	probably damaging	Het
Cacna1a	T	A	8: 85,360,062 (GRCm39)	M1976K	probably benign	Het
Castor2	T	G	5: 134,154,726 (GRCm39)	S43R	probably damaging	Het
Ccdc180	T	C	4: 45,927,975 (GRCm39)	V1170A	possibly damaging	Het
Celsr1	A	G	15: 85,815,477 (GRCm39)	V1846A	probably benign	Het
Ces1f	A	T	8: 93,998,517 (GRCm39)	Y160N	possibly damaging	Het
Cfap45	A	G	1: 172,368,139 (GRCm39)	E377G	probably damaging	Het
Clca3a1	T	A	3: 144,460,932 (GRCm39)	M240L	probably benign	Het
Clnk	G	A	5: 38,952,309 (GRCm39)	T10M	probably damaging	Het
Cntrl	T	A	2: 35,045,291 (GRCm39)	I781K	possibly damaging	Het
Col11a2	G	A	17: 34,274,228 (GRCm39)	G375S	probably damaging	Het
Col6a5	T	A	9: 105,817,193 (GRCm39)	I373F	unknown	Het
Dmxl1	C	T	18: 49,985,434 (GRCm39)	A227V	probably benign	Het
Dok5	A	G	2: 170,574,052 (GRCm39)	N4D	probably benign	Het
Dpysl3	A	T	18: 43,496,622 (GRCm39)	V138D	probably damaging	Het
Efs	A	T	14: 55,157,172 (GRCm39)	Y380N	probably damaging	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Farp2	A	G	1: 93,546,275 (GRCm39)	Q855R	possibly damaging	Het
Fcrl2	A	C	3: 87,164,014 (GRCm39)	S372A	possibly damaging	Het
Gadl1	C	T	9: 115,773,297 (GRCm39)	A113V	probably damaging	Het
Gda	T	A	19: 21,389,903 (GRCm39)	E219D	probably benign	Het
Gli1	A	T	10: 127,168,446 (GRCm39)	M469K	probably damaging	Het
Gm4847	A	T	1: 166,469,219 (GRCm39)	S148R	probably damaging	Het
Golga2	T	C	2: 32,192,216 (GRCm39)	V325A	probably benign	Het
Hpf1	A	G	8: 61,349,783 (GRCm39)	D137G	probably damaging	Het
Htr2a	C	G	14: 74,943,293 (GRCm39)	S291*	probably null	Het
Itga5	G	A	15: 103,265,209 (GRCm39)	Q233*	probably null	Het
Jazf1	C	A	6: 52,789,168 (GRCm39)	R102L	probably damaging	Het
Kif6	T	G	17: 50,021,141 (GRCm39)	L322R	probably damaging	Het
Ktn1	A	C	14: 47,904,873 (GRCm39)	K217T	probably damaging	Het
Lig4	A	T	8: 10,023,012 (GRCm39)	V256E	possibly damaging	Het
Lrp1	G	T	10: 127,403,233 (GRCm39)	D2113E	probably damaging	Het
Lrp1	A	T	10: 127,411,155 (GRCm39)	D1399E	probably benign	Het
Mmel1	A	G	4: 154,979,443 (GRCm39)	E717G	probably damaging	Het
Mndal	G	T	1: 173,699,032 (GRCm39)	P155H	possibly damaging	Het
Mycbpap	A	G	11: 94,402,449 (GRCm39)		probably null	Het
Nedd1	T	C	10: 92,555,476 (GRCm39)	E3G	probably damaging	Het
Nlgn1	A	T	3: 25,490,073 (GRCm39)	N551K	probably damaging	Het
Nup210	G	A	6: 91,046,148 (GRCm39)	P595L	possibly damaging	Het
Or2ag15	A	G	7: 106,340,212 (GRCm39)	C310R	probably benign	Het
Or2g25	A	T	17: 37,970,661 (GRCm39)	C188S	probably damaging	Het
Or4k52	A	T	2: 111,610,693 (GRCm39)		probably null	Het
Or5ac17	T	G	16: 59,036,347 (GRCm39)	T210P	probably damaging	Het
Or5p56	A	G	7: 107,589,740 (GRCm39)	H56R	probably benign	Het
Pank3	G	A	11: 35,672,508 (GRCm39)	V304M	probably benign	Het
Phf3	G	A	1: 30,844,729 (GRCm39)	T1410I	probably benign	Het
Ppm1k	A	G	6: 57,502,142 (GRCm39)	I7T	possibly damaging	Het
Ppp1r12c	T	C	7: 4,500,424 (GRCm39)	D73G	probably damaging	Het
Prelid2	T	G	18: 42,014,332 (GRCm39)	M165L	probably benign	Het
Prkd3	A	C	17: 79,260,125 (GRCm39)	L826R	probably damaging	Het
Ptchd4	A	T	17: 42,814,433 (GRCm39)	N778I	probably damaging	Het
Ptprm	T	C	17: 67,000,866 (GRCm39)	D1063G	possibly damaging	Het
Rab27a	C	A	9: 72,982,764 (GRCm39)	T23N	probably damaging	Het
Rasgrf2	A	T	13: 92,044,205 (GRCm39)	F949L	probably benign	Het
Rbm33	A	G	5: 28,542,002 (GRCm39)	N68D	probably damaging	Het
Rgl1	A	T	1: 152,462,284 (GRCm39)	L109Q	probably damaging	Het
Rnf20	A	G	4: 49,638,197 (GRCm39)	N103S	possibly damaging	Het
Sbno1	G	A	5: 124,530,675 (GRCm39)	L875F	probably damaging	Het
Scube1	T	A	15: 83,512,277 (GRCm39)		probably null	Het
Selenbp1	G	A	3: 94,844,669 (GRCm39)	V109M	probably damaging	Het
Serpina3c	T	A	12: 104,117,805 (GRCm39)	I178F	probably damaging	Het
Shisa8	C	T	15: 82,092,702 (GRCm39)	G63D	probably damaging	Het
Snx14	T	C	9: 88,284,277 (GRCm39)	R464G	possibly damaging	Het
Snx25	A	T	8: 46,577,119 (GRCm39)	M1K	probably null	Het
Sorcs3	C	A	19: 48,694,448 (GRCm39)	T574K	possibly damaging	Het
Syne2	A	G	12: 76,150,557 (GRCm39)	E6528G	probably damaging	Het
Tbk1	T	C	10: 121,387,223 (GRCm39)	K691E	probably benign	Het
Tenm3	G	A	8: 48,848,611 (GRCm39)	T11I	probably damaging	Het
Thrb	A	G	14: 18,002,597 (GRCm38)	H87R	probably damaging	Het
Tlr4	T	A	4: 66,757,933 (GRCm39)	M242K	possibly damaging	Het
Tm4sf19	T	C	16: 32,224,820 (GRCm39)	M56T	possibly damaging	Het
Tmem212	T	A	3: 27,940,620 (GRCm39)	R66*	probably null	Het
Tmem39b	G	T	4: 129,578,275 (GRCm39)	D315E	probably benign	Het
Tnxb	T	C	17: 34,937,612 (GRCm39)	F3834L	probably damaging	Het
Trim36	A	T	18: 46,319,250 (GRCm39)	L225*	probably null	Het
Trim42	A	T	9: 97,247,732 (GRCm39)	H321Q	probably damaging	Het
Trio	G	T	15: 27,732,726 (GRCm39)	Q3052K	probably benign	Het
Trpm3	T	C	19: 22,955,698 (GRCm39)	I1091T	probably benign	Het
Tst	T	C	15: 78,284,143 (GRCm39)	E228G	possibly damaging	Het
Ttn	T	C	2: 76,702,060 (GRCm39)		probably benign	Het
Uap1	A	C	1: 169,978,510 (GRCm39)		probably null	Het
Ush2a	T	C	1: 188,530,011 (GRCm39)	S3267P	possibly damaging	Het
Usp5	T	C	6: 124,802,129 (GRCm39)	T38A	probably benign	Het
Uvssa	A	T	5: 33,545,152 (GRCm39)	Q84L	probably damaging	Het
Vmn1r159	T	G	7: 22,542,693 (GRCm39)	H113P	probably damaging	Het
Vps13d	A	T	4: 144,824,742 (GRCm39)		probably null	Het
Zfp182	T	A	X: 20,897,799 (GRCm39)	I166L	probably benign	Het
Zfp811	A	T	17: 33,016,622 (GRCm39)	Y472N	probably damaging	Het

Other mutations in Syt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01106:Syt5	APN	7	4,544,156 (GRCm39)	missense	probably damaging	1.00
IGL02730:Syt5	APN	7	4,545,356 (GRCm39)	missense	probably damaging	0.99
IGL03345:Syt5	APN	7	4,545,206 (GRCm39)	missense	probably benign
PIT4495001:Syt5	UTSW	7	4,544,077 (GRCm39)	critical splice donor site	probably null
R0352:Syt5	UTSW	7	4,544,170 (GRCm39)	missense	probably benign	0.29
R0479:Syt5	UTSW	7	4,546,108 (GRCm39)	missense	probably benign
R0512:Syt5	UTSW	7	4,545,813 (GRCm39)	missense	probably damaging	1.00
R0627:Syt5	UTSW	7	4,548,682 (GRCm39)	missense	possibly damaging	0.82
R1919:Syt5	UTSW	7	4,543,278 (GRCm39)	missense	probably damaging	1.00
R2191:Syt5	UTSW	7	4,546,088 (GRCm39)	nonsense	probably null
R5265:Syt5	UTSW	7	4,544,074 (GRCm39)	splice site	probably null
R5643:Syt5	UTSW	7	4,546,018 (GRCm39)	missense	probably benign	0.24
R7067:Syt5	UTSW	7	4,546,075 (GRCm39)	missense	probably benign
R7397:Syt5	UTSW	7	4,545,395 (GRCm39)	splice site	probably null
R8218:Syt5	UTSW	7	4,545,822 (GRCm39)	missense	probably damaging	1.00
R9776:Syt5	UTSW	7	4,544,831 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTGGCCCCAAGAGCAGCATAG -3'
(R):5'- GCAGCAGTGTCTCTACATAGCCTG -3'

Sequencing Primer
(F):5'- GCAGGGGATACCAGACTTTC -3'
(R):5'- TCTACATAGCCTGGTCACGG -3'

Posted On

2014-04-13