Mutagenetix > Incidental Mutation

Incidental Mutation 'R1765:Sytl3'

194323

Institutional Source

Beutler Lab

Gene Symbol

Sytl3

Ensembl Gene

ENSMUSG00000041831

Gene Name

synaptotagmin-like 3

Synonyms

Slp3-b, Slp3-a, Slp3

MMRRC Submission

039797-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.263) question?

Stock #

R1765 (G1)

Quality Score

153

Status

Validated

Chromosome

Chromosomal Location

6926492-7005443 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6967082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 142 (L142P)

Ref Sequence

ENSEMBL: ENSMUSP00000095041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097430] [ENSMUST00000115763] [ENSMUST00000159394] [ENSMUST00000159880] [ENSMUST00000162635]

AlphaFold

Q99N48

Predicted Effect

probably damaging
Transcript: ENSMUST00000097430
AA Change: L142P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095041
Gene: ENSMUSG00000041831
AA Change: L142P

Domain	Start	End	E-Value	Type
Pfam:FYVE_2	8	124	6e-25	PFAM
low complexity region	162	170	N/A	INTRINSIC
C2	321	426	9.17e-15	SMART
C2	478	601	1.92e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115763

SMART Domains

Protein: ENSMUSP00000111429
Gene: ENSMUSG00000041831

Domain	Start	End	E-Value	Type
Pfam:FYVE_2	8	124	4.3e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159394

SMART Domains

Protein: ENSMUSP00000124146
Gene: ENSMUSG00000041831

Domain	Start	End	E-Value	Type
Pfam:FYVE_2	8	124	3.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159880

SMART Domains

Protein: ENSMUSP00000125469
Gene: ENSMUSG00000041831

Domain	Start	End	E-Value	Type
C2	116	221	9.17e-15	SMART
C2	273	396	1.92e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162635
AA Change: L142P

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124496
Gene: ENSMUSG00000041831
AA Change: L142P

Domain	Start	End	E-Value	Type
Pfam:FYVE_2	8	124	4.3e-27	PFAM
low complexity region	158	176	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231743

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

99% (90/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of peripheral membrane proteins that play a role in vesicular trafficking. This protein binds phospholipids in the presence of calcium ions. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	G	T	15: 59,887,194 (GRCm39)	C415*	probably null	Het
Adamtsl2	A	C	2: 26,992,842 (GRCm39)	I652L	probably benign	Het
Adgrl4	T	C	3: 151,248,872 (GRCm39)	I720T	probably damaging	Het
Agrn	A	T	4: 156,261,284 (GRCm39)	C604*	probably null	Het
Amh	AGCGCCTTGG	AG	10: 80,641,419 (GRCm39)		probably null	Het
B3galt2	C	A	1: 143,522,207 (GRCm39)	N114K	probably benign	Het
Bud23	A	T	5: 135,084,897 (GRCm39)	M59K	probably benign	Het
C3	C	T	17: 57,531,401 (GRCm39)		probably null	Het
C9orf72	A	C	4: 35,197,098 (GRCm39)	H322Q	probably damaging	Het
Cc2d2a	A	T	5: 43,871,873 (GRCm39)	D903V	probably damaging	Het
Ccdc9b	G	A	2: 118,591,128 (GRCm39)	A135V	probably benign	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdan1	A	C	2: 120,551,230 (GRCm39)	L1097V	probably damaging	Het
Cdc26	T	A	4: 62,313,155 (GRCm39)	N62I	probably benign	Het
Cdc27	G	T	11: 104,425,607 (GRCm39)	Q70K	probably damaging	Het
Cenpq	A	T	17: 41,235,178 (GRCm39)		probably null	Het
Cep295	T	C	9: 15,239,200 (GRCm39)	S1858G	probably damaging	Het
Clasp1	T	C	1: 118,433,261 (GRCm39)	S247P	probably damaging	Het
Cyp2w1	C	T	5: 139,339,623 (GRCm39)	T71I	probably damaging	Het
Dcaf1	T	C	9: 106,741,793 (GRCm39)	F1336S	probably damaging	Het
Dennd6b	G	A	15: 89,074,506 (GRCm39)	Q104*	probably null	Het
Dglucy	T	A	12: 100,816,361 (GRCm39)		probably null	Het
Dnajc9	A	G	14: 20,438,158 (GRCm39)	V148A	possibly damaging	Het
Dnmbp	T	A	19: 43,890,579 (GRCm39)	D396V	possibly damaging	Het
Dock10	T	A	1: 80,583,540 (GRCm39)	I221F	probably damaging	Het
Dscam	T	C	16: 96,486,579 (GRCm39)	N1032S	probably benign	Het
Dsg4	A	C	18: 20,589,888 (GRCm39)	Y346S	probably benign	Het
Dync1i2	A	G	2: 71,079,759 (GRCm39)	H417R	probably benign	Het
Dysf	G	A	6: 84,167,884 (GRCm39)		probably null	Het
Elovl1	A	G	4: 118,287,707 (GRCm39)	M1V	probably null	Het
Eva1c	A	G	16: 90,701,135 (GRCm39)	S257G	probably benign	Het
Eya2	A	T	2: 165,566,723 (GRCm39)	D258V	probably damaging	Het
Fam193a	A	G	5: 34,593,841 (GRCm39)	T113A	probably damaging	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Fstl5	G	T	3: 76,500,783 (GRCm39)	R404L	possibly damaging	Het
Glud1	T	C	14: 34,047,541 (GRCm39)		probably benign	Het
Gm10770	A	C	2: 150,021,258 (GRCm39)	H86Q	probably damaging	Het
Gzme	C	T	14: 56,355,871 (GRCm39)	G147D	probably damaging	Het
Herc3	T	C	6: 58,865,645 (GRCm39)	V746A	probably damaging	Het
Hmga1	A	G	17: 27,778,592 (GRCm39)	E17G	probably damaging	Het
Kdelr2	A	T	5: 143,406,567 (GRCm39)	K206*	probably null	Het
Kng2	A	G	16: 22,806,993 (GRCm39)		probably null	Het
Lrrc41	G	A	4: 115,946,248 (GRCm39)	R321H	possibly damaging	Het
Mapkapk2	A	T	1: 130,986,498 (GRCm39)	M1K	probably null	Het
Me2	A	G	18: 73,924,929 (GRCm39)	F263L	probably damaging	Het
Mkks	A	G	2: 136,722,287 (GRCm39)	L290P	probably damaging	Het
Mmp12	T	A	9: 7,354,772 (GRCm39)	I255N	probably damaging	Het
Mogs	A	G	6: 83,093,784 (GRCm39)	D251G	probably benign	Het
Morf4l1	T	A	9: 89,984,401 (GRCm39)	Y65F	possibly damaging	Het
Neb	T	C	2: 52,094,676 (GRCm39)	D5169G	probably damaging	Het
Nin	A	G	12: 70,089,665 (GRCm39)	L1250P	probably damaging	Het
Nomo1	G	T	7: 45,715,717 (GRCm39)	G721V	possibly damaging	Het
Notch2	T	G	3: 98,029,242 (GRCm39)	C1002G	probably damaging	Het
Npat	T	C	9: 53,481,522 (GRCm39)	Y1077H	probably benign	Het
Or1e1c	T	A	11: 73,266,170 (GRCm39)	N198K	probably damaging	Het
Or4g17	G	A	2: 111,209,491 (GRCm39)	V49I	probably benign	Het
Or4p21	A	T	2: 88,276,367 (GRCm39)	F305Y	probably damaging	Het
Or5h25	A	G	16: 58,930,118 (GRCm39)	L285P	probably damaging	Het
Or8c16	T	C	9: 38,130,548 (GRCm39)	I143T	probably benign	Het
Otop2	A	T	11: 115,215,504 (GRCm39)	I142F	probably benign	Het
Pacsin3	A	G	2: 91,093,460 (GRCm39)	E279G	possibly damaging	Het
Pafah2	A	G	4: 134,140,758 (GRCm39)	T243A	probably benign	Het
Pcdhgc5	A	G	18: 37,954,913 (GRCm39)	H729R	probably benign	Het
Plcd1	T	C	9: 118,900,874 (GRCm39)	D756G	probably damaging	Het
Prune2	A	G	19: 17,102,962 (GRCm39)	E2707G	probably damaging	Het
Rit2	C	T	18: 31,449,951 (GRCm39)	G16S	probably damaging	Het
Sec24c	A	G	14: 20,738,922 (GRCm39)		probably benign	Het
Skint5	G	T	4: 113,434,858 (GRCm39)	T1037K	unknown	Het
Slc28a2	T	A	2: 122,290,876 (GRCm39)		probably null	Het
Slc41a2	G	A	10: 83,137,130 (GRCm39)	A259V	probably damaging	Het
Slc6a17	T	A	3: 107,380,895 (GRCm39)	I537F	possibly damaging	Het
Slco1a7	T	C	6: 141,700,084 (GRCm39)		probably benign	Het
Smchd1	A	T	17: 71,707,196 (GRCm39)		probably benign	Het
Smg1	T	C	7: 117,738,938 (GRCm39)	I3489V	probably benign	Het
Tektl1	A	T	10: 78,584,502 (GRCm39)	M340K	probably benign	Het
Tfr2	C	T	5: 137,581,707 (GRCm39)	T598I	probably damaging	Het
Tmc2	A	G	2: 130,102,145 (GRCm39)	Q770R	probably benign	Het
Tnc	C	T	4: 63,932,231 (GRCm39)	V728M	probably damaging	Het
Trim68	A	T	7: 102,329,597 (GRCm39)	M177K	possibly damaging	Het
Trmt11	T	C	10: 30,435,184 (GRCm39)	D325G	probably benign	Het
Ube3a	C	T	7: 58,935,862 (GRCm39)	T582I	probably damaging	Het
Usp13	G	A	3: 32,969,919 (GRCm39)	E682K	probably benign	Het
Usp9y	A	G	Y: 1,384,454 (GRCm39)	V688A	possibly damaging	Het
Uts2r	A	G	11: 121,052,095 (GRCm39)	T320A	possibly damaging	Het
Vmn1r34	A	T	6: 66,614,480 (GRCm39)	M86K	probably damaging	Het
Vsig10	A	G	5: 117,456,880 (GRCm39)		probably benign	Het
Zbtb41	T	A	1: 139,368,132 (GRCm39)	C607S	probably benign	Het

Other mutations in Sytl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01626:Sytl3	APN	17	7,002,839 (GRCm39)	missense	probably damaging	1.00
IGL02888:Sytl3	APN	17	7,000,483 (GRCm39)	missense	probably benign
IGL02893:Sytl3	APN	17	7,000,373 (GRCm39)	missense	probably damaging	1.00
R1462:Sytl3	UTSW	17	6,973,430 (GRCm39)	splice site	probably benign
R1469:Sytl3	UTSW	17	6,954,723 (GRCm39)	missense	probably benign	0.17
R1469:Sytl3	UTSW	17	6,954,723 (GRCm39)	missense	probably benign	0.17
R1735:Sytl3	UTSW	17	6,982,880 (GRCm39)	missense	probably benign	0.10
R1834:Sytl3	UTSW	17	6,995,726 (GRCm39)	missense	probably benign	0.05
R1933:Sytl3	UTSW	17	7,000,445 (GRCm39)	missense	probably damaging	1.00
R1952:Sytl3	UTSW	17	6,995,732 (GRCm39)	missense	probably damaging	1.00
R1992:Sytl3	UTSW	17	7,000,448 (GRCm39)	missense	possibly damaging	0.79
R2279:Sytl3	UTSW	17	6,976,273 (GRCm39)	intron	probably benign
R2411:Sytl3	UTSW	17	7,003,892 (GRCm39)	missense	probably damaging	1.00
R4019:Sytl3	UTSW	17	7,003,892 (GRCm39)	missense	probably damaging	1.00
R4853:Sytl3	UTSW	17	7,005,164 (GRCm39)	missense	probably damaging	0.97
R4857:Sytl3	UTSW	17	7,003,980 (GRCm39)	missense	probably damaging	1.00
R5169:Sytl3	UTSW	17	6,982,945 (GRCm39)	nonsense	probably null
R5485:Sytl3	UTSW	17	6,982,879 (GRCm39)	missense	probably benign	0.03
R6035:Sytl3	UTSW	17	6,995,664 (GRCm39)	missense	probably damaging	1.00
R6035:Sytl3	UTSW	17	6,995,664 (GRCm39)	missense	probably damaging	1.00
R7540:Sytl3	UTSW	17	6,949,346 (GRCm39)	intron	probably benign
R7792:Sytl3	UTSW	17	7,003,977 (GRCm39)	missense	probably benign	0.45
R7836:Sytl3	UTSW	17	6,982,774 (GRCm39)	splice site	probably null
R8508:Sytl3	UTSW	17	6,995,690 (GRCm39)	missense	probably damaging	0.99
R8836:Sytl3	UTSW	17	6,973,410 (GRCm39)	missense	possibly damaging	0.68
R9173:Sytl3	UTSW	17	7,000,471 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGCATGGGAAGTTACACAATAATCCCAC -3'
(R):5'- GCTCCTCTCAACCTTTTCCAGGAAC -3'

Sequencing Primer
(F):5'- gatttggggggggggtg -3'
(R):5'- tcaggaggcagaggcag -3'

Posted On

2014-05-23