Mutagenetix > Incidental Mutation

Incidental Mutation 'R1639:Syt13'

173354

Institutional Source

Beutler Lab

Gene Symbol

Syt13

Ensembl Gene

ENSMUSG00000027220

Gene Name

synaptotagmin XIII

Synonyms

5730409J20Rik

MMRRC Submission

039675-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R1639 (G1)

Quality Score

124

Status

Validated

Chromosome

Chromosomal Location

92745446-92786403 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92776316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 201 (V201D)

Ref Sequence

ENSEMBL: ENSMUSP00000028648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028648]

AlphaFold

Q9EQT6

Predicted Effect

probably benign
Transcript: ENSMUST00000028648
AA Change: V201D

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000028648
Gene: ENSMUSG00000027220
AA Change: V201D

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	108	120	N/A	INTRINSIC
Pfam:C2	165	277	5e-8	PFAM
C2	303	419	7.86e-14	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

96% (66/69)

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 large synaptotagmin protein family. Family members have an extracellular N-terminal transmembrane domain and a cytoplasmic C terminus with two tandem C2 domains (C2A and C2B). Synaptotogmin family members can form homo- and heteromeric complexes with each other. They also have different biochemical properties and developmental profiles, and patterns of tissue distribution. Synaptotagmins function as membrane traffickers in multicellular organisms. Two alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	C	A	2: 155,398,828 (GRCm39)	T425N	probably benign	Het
Adam18	T	A	8: 25,142,168 (GRCm39)	I203L	probably benign	Het
Amigo2	A	G	15: 97,143,879 (GRCm39)	M181T	probably benign	Het
Anks1	T	A	17: 28,277,280 (GRCm39)	I1045N	probably damaging	Het
Ap3d1	C	T	10: 80,565,844 (GRCm39)	V108I	probably damaging	Het
Arl8a	C	T	1: 135,080,561 (GRCm39)	R57*	probably null	Het
Atp12a	A	T	14: 56,621,525 (GRCm39)	D720V	possibly damaging	Het
Brpf3	T	C	17: 29,043,042 (GRCm39)		probably null	Het
C2	T	C	17: 35,091,379 (GRCm39)	K95E	probably benign	Het
Cdk19	T	C	10: 40,352,965 (GRCm39)		probably null	Het
Cebpz	T	A	17: 79,242,035 (GRCm39)	I540L	possibly damaging	Het
Cep128	A	G	12: 91,333,142 (GRCm39)	V41A	probably damaging	Het
Cog7	T	C	7: 121,580,642 (GRCm39)	E56G	probably damaging	Het
Cylc2	T	C	4: 51,228,310 (GRCm39)	V127A	probably benign	Het
Cyp2b23	A	G	7: 26,385,842 (GRCm39)	V5A	possibly damaging	Het
Cyp8b1	A	G	9: 121,743,956 (GRCm39)	Y459H	probably benign	Het
Dbpht2	A	G	12: 74,345,932 (GRCm39)		noncoding transcript	Het
Ddx24	T	C	12: 103,377,578 (GRCm39)		probably null	Het
Dgki	C	T	6: 36,914,299 (GRCm39)	C757Y	probably damaging	Het
Eef2k	T	A	7: 120,485,051 (GRCm39)	L306H	probably damaging	Het
Ephb2	T	C	4: 136,421,216 (GRCm39)	N378S	probably benign	Het
Espl1	C	T	15: 102,229,149 (GRCm39)	T1767I	probably damaging	Het
Fbn2	C	A	18: 58,191,534 (GRCm39)	A1530S	probably benign	Het
Fndc11	A	G	2: 180,863,374 (GRCm39)	S60G	possibly damaging	Het
Glb1l	G	T	1: 75,176,245 (GRCm39)	Q612K	probably benign	Het
Gpsm1	A	G	2: 26,235,199 (GRCm39)	E371G	probably damaging	Het
Gtpbp2	G	A	17: 46,476,697 (GRCm39)		probably null	Het
Itch	A	G	2: 155,020,945 (GRCm39)		probably null	Het
Itga2	T	C	13: 114,993,832 (GRCm39)	T774A	probably benign	Het
Kit	A	G	5: 75,813,467 (GRCm39)	I881V	probably damaging	Het
Lpar5	T	C	6: 125,058,564 (GRCm39)	L95P	probably damaging	Het
Lrp6	T	C	6: 134,430,529 (GRCm39)	T1511A	possibly damaging	Het
Mgat4c	T	C	10: 102,214,142 (GRCm39)	Y42H	probably damaging	Het
Mpp3	G	T	11: 101,914,268 (GRCm39)	T109K	probably damaging	Het
Msantd4	A	G	9: 4,385,199 (GRCm39)	E308G	probably damaging	Het
Mug1	T	C	6: 121,857,530 (GRCm39)	S1085P	probably damaging	Het
Myo5b	A	G	18: 74,840,987 (GRCm39)	H956R	probably benign	Het
Ncoa7	A	C	10: 30,577,988 (GRCm39)	L132R	probably damaging	Het
Ndufc1	T	C	3: 51,315,664 (GRCm39)	T25A	probably benign	Het
Or4a81	T	C	2: 89,619,589 (GRCm39)	T36A	probably damaging	Het
Pkhd1l1	G	A	15: 44,404,351 (GRCm39)	V2327M	probably damaging	Het
Ppp1r9b	T	C	11: 94,887,436 (GRCm39)	Y59H	probably damaging	Het
Sema4c	A	T	1: 36,592,615 (GRCm39)	F152I	probably benign	Het
Slit2	A	T	5: 48,416,996 (GRCm39)	Y1016F	probably damaging	Het
Spata31d1c	T	A	13: 65,183,853 (GRCm39)	V465D	probably benign	Het
Ssc5d	T	C	7: 4,931,416 (GRCm39)	C208R	probably damaging	Het
Stambpl1	T	G	19: 34,213,707 (GRCm39)	V312G	probably benign	Het
Stim1	T	A	7: 102,003,748 (GRCm39)	D60E	probably benign	Het
Tcaim	G	A	9: 122,647,838 (GRCm39)		probably null	Het
Tex15	T	C	8: 34,060,845 (GRCm39)	S366P	possibly damaging	Het
Tex56	T	C	13: 35,128,233 (GRCm39)	I150T	possibly damaging	Het
Tpte	G	A	8: 22,810,913 (GRCm39)	R190H	probably benign	Het
Vmn1r4	T	C	6: 56,934,060 (GRCm39)	V188A	probably damaging	Het
Vmn2r88	A	G	14: 51,654,244 (GRCm39)	D542G	probably damaging	Het
Vps33b	T	A	7: 79,934,101 (GRCm39)	I257N	probably damaging	Het
Wwox	G	T	8: 115,172,118 (GRCm39)	G71*	probably null	Het
Zc3h11a	G	T	1: 133,552,446 (GRCm39)	Q554K	probably benign	Het
Zfp947	T	C	17: 22,365,074 (GRCm39)	K200R	probably benign	Het
Zscan12	T	A	13: 21,553,156 (GRCm39)	C327S	probably damaging	Het

Other mutations in Syt13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02236:Syt13	APN	2	92,771,210 (GRCm39)	missense	probably damaging	0.96
IGL02332:Syt13	APN	2	92,771,149 (GRCm39)	missense	probably benign	0.02
IGL03015:Syt13	APN	2	92,781,725 (GRCm39)	missense	possibly damaging	0.94
R0345:Syt13	UTSW	2	92,776,412 (GRCm39)	missense	possibly damaging	0.66
R0367:Syt13	UTSW	2	92,745,596 (GRCm39)	missense	probably benign	0.01
R1160:Syt13	UTSW	2	92,773,387 (GRCm39)	splice site	probably null
R1635:Syt13	UTSW	2	92,783,760 (GRCm39)	missense	probably damaging	1.00
R1844:Syt13	UTSW	2	92,771,165 (GRCm39)	missense	probably damaging	1.00
R1869:Syt13	UTSW	2	92,776,448 (GRCm39)	missense	possibly damaging	0.90
R2032:Syt13	UTSW	2	92,783,746 (GRCm39)	missense	probably damaging	1.00
R2306:Syt13	UTSW	2	92,771,312 (GRCm39)	missense	probably benign	0.04
R2375:Syt13	UTSW	2	92,776,496 (GRCm39)	missense	probably benign	0.02
R4958:Syt13	UTSW	2	92,783,794 (GRCm39)	missense	probably damaging	1.00
R5341:Syt13	UTSW	2	92,783,897 (GRCm39)	missense	probably benign	0.00
R7605:Syt13	UTSW	2	92,773,478 (GRCm39)	missense	probably benign	0.27
R7921:Syt13	UTSW	2	92,783,991 (GRCm39)	missense	probably damaging	0.99
R8198:Syt13	UTSW	2	92,783,899 (GRCm39)	missense	probably damaging	1.00
R9498:Syt13	UTSW	2	92,781,749 (GRCm39)	missense	possibly damaging	0.58
R9621:Syt13	UTSW	2	92,745,575 (GRCm39)	missense	possibly damaging	0.93
X0024:Syt13	UTSW	2	92,773,420 (GRCm39)	missense	probably benign	0.00
Z1176:Syt13	UTSW	2	92,771,111 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGAACCTGGAAAGTGCCTCCTC -3'
(R):5'- GTCTGAAAGCTCCCTACCTTTGCTG -3'

Sequencing Primer
(F):5'- TTCCCCACAAGACTGTTACATAGTG -3'
(R):5'- GGTACAGATGCTCCATCCAG -3'

Posted On

2014-04-24