Mutagenetix > Incidental Mutation

Incidental Mutation 'R2032:Syt13'

221326

Institutional Source

Beutler Lab

Gene Symbol

Syt13

Ensembl Gene

ENSMUSG00000027220

Gene Name

synaptotagmin XIII

Synonyms

5730409J20Rik

MMRRC Submission

040039-MU

Accession Numbers

Essential gene?

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

Stock #

R2032 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92745446-92786403 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92783746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 339 (K339E)

Ref Sequence

ENSEMBL: ENSMUSP00000028648 (fasta)

Gene Model

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

AlphaFold

Q9EQT6

Predicted Effect

probably damaging
Transcript: ENSMUST00000028648
AA Change: K339E

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

SMART Domains

Protein: ENSMUSP00000028648
Gene: ENSMUSG00000027220
AA Change: K339E

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

0.3099

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,585,056 (GRCm39)		probably benign	Het
Abca7	C	T	10: 79,844,071 (GRCm39)	T1359M	probably damaging	Het
Acox2	A	G	14: 8,246,400 (GRCm38)	S464P	probably benign	Het
Adgrf1	C	T	17: 43,622,166 (GRCm39)	T801I	probably damaging	Het
Akap11	T	A	14: 78,747,477 (GRCm39)	I1637L	possibly damaging	Het
Akap12	C	A	10: 4,306,673 (GRCm39)	A1161D	possibly damaging	Het
Ankrd36	T	A	11: 5,578,616 (GRCm39)	V635D	possibly damaging	Het
Ankrd44	C	T	1: 54,762,168 (GRCm39)		probably null	Het
Atl2	A	G	17: 80,203,373 (GRCm39)	V28A	probably benign	Het
Atxn3	A	T	12: 101,908,453 (GRCm39)	L133*	probably null	Het
Bmp2	T	C	2: 133,403,216 (GRCm39)	S256P	probably benign	Het
Ccdc121rt3	G	A	5: 112,502,978 (GRCm39)	T242I	possibly damaging	Het
Ccdc138	T	A	10: 58,348,984 (GRCm39)	Y177N	possibly damaging	Het
Ccdc168	C	A	1: 44,100,900 (GRCm39)	C66F	possibly damaging	Het
Cdcp3	G	A	7: 130,844,781 (GRCm39)	G674E	probably damaging	Het
Cep164	C	T	9: 45,682,898 (GRCm39)	V931M	probably damaging	Het
Cfhr4	T	A	1: 139,660,993 (GRCm39)		probably benign	Het
CK137956	T	C	4: 127,839,069 (GRCm39)	T450A	probably benign	Het
Col23a1	G	A	11: 51,450,835 (GRCm39)	G215D	unknown	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dennd6a	T	C	14: 26,325,904 (GRCm39)	M5T	probably benign	Het
Dnajc6	T	G	4: 101,471,435 (GRCm39)	I284S	probably benign	Het
Dolpp1	C	T	2: 30,282,453 (GRCm39)	A2V	probably damaging	Het
Eml2	C	T	7: 18,936,480 (GRCm39)	T711I	probably benign	Het
Evi5l	T	C	8: 4,260,622 (GRCm39)	D1065G	probably damaging	Het
Fam110b	G	T	4: 5,799,460 (GRCm39)	A293S	probably benign	Het
Fap	A	G	2: 62,372,581 (GRCm39)	V266A	probably benign	Het
Fgf10	A	T	13: 118,852,131 (GRCm39)	Y71F	probably damaging	Het
Gm3443	G	T	19: 21,533,164 (GRCm39)	G43C	probably damaging	Het
Gpr146	T	C	5: 139,364,902 (GRCm39)		probably benign	Het
Hif3a	A	T	7: 16,785,104 (GRCm39)	L172H	probably damaging	Het
Mas1	T	C	17: 13,061,457 (GRCm39)		probably benign	Het
Nlrp5	G	A	7: 23,120,937 (GRCm39)	R717Q	probably damaging	Het
Nop14	A	G	5: 34,817,283 (GRCm39)	V36A	possibly damaging	Het
Or10v5	C	T	19: 11,805,664 (GRCm39)	C242Y	probably damaging	Het
Or51a39	A	T	7: 102,363,083 (GRCm39)	I179N	probably benign	Het
Or7a41	T	A	10: 78,871,163 (GRCm39)	F178I	possibly damaging	Het
Parp4	T	A	14: 56,866,553 (GRCm39)	I1039K	possibly damaging	Het
Pate12	T	C	9: 36,344,195 (GRCm39)		probably null	Het
Pold2	A	T	11: 5,826,757 (GRCm39)	I59N	probably benign	Het
Prr36	T	C	8: 4,264,304 (GRCm39)		probably benign	Het
Pyroxd2	T	C	19: 42,716,088 (GRCm39)		probably benign	Het
Recql	C	T	6: 142,313,009 (GRCm39)	G403R	probably damaging	Het
Serpina3m	T	A	12: 104,355,928 (GRCm39)	D198E	probably benign	Het
Sik2	A	T	9: 50,906,947 (GRCm39)	Y93N	probably damaging	Het
Slc27a3	C	T	3: 90,294,704 (GRCm39)	R389H	probably damaging	Het
Slc29a1	A	T	17: 45,897,035 (GRCm39)	M417K	probably damaging	Het
Tmem237	A	T	1: 59,148,265 (GRCm39)	H163Q	probably benign	Het
Tram2	C	T	1: 21,074,180 (GRCm39)	G253R	probably null	Het
Trpv1	A	G	11: 73,129,211 (GRCm39)	T43A	probably benign	Het
Ugt2b34	A	G	5: 87,039,131 (GRCm39)	I510T	probably damaging	Het
Vmn1r224	C	A	17: 20,639,658 (GRCm39)	D78E	probably benign	Het
Vmn1r78	A	T	7: 11,887,210 (GRCm39)	I274L	probably benign	Het
Wdfy4	C	T	14: 32,868,946 (GRCm39)	V361I	probably benign	Het
Zpbp2	A	T	11: 98,445,534 (GRCm39)	K165N	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
R1639:Syt13	UTSW	2	92,776,316 (GRCm39)	missense	probably benign	0.04
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
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'- GCTATCTCTAGACCGGTTCCTGAC -3'
(R):5'- TTAGCATCTCCTCCCAGTGG -3'

Sequencing Primer
(F):5'- TAGACCGGTTCCTGACGTCTG -3'
(R):5'- AGTGGCTGCGCTCAGAG -3'

Posted On

2014-08-25