Mutagenetix > Incidental Mutation

Incidental Mutation 'R9127:Syt11'

693308

Institutional Source

Beutler Lab

Gene Symbol

Syt11

Ensembl Gene

ENSMUSG00000068923

Gene Name

synaptotagmin XI

Synonyms

6530420C11Rik

MMRRC Submission

068926-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.491) question?

Stock #

R9127 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88652006-88682466 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88669643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 83 (D83G)

Ref Sequence

ENSEMBL: ENSMUSP00000088464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090945] [ENSMUST00000107505]

AlphaFold

Q9R0N3

Predicted Effect

probably benign
Transcript: ENSMUST00000090945
AA Change: D83G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000088464
Gene: ENSMUSG00000068923
AA Change: D83G

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
C2	172	276	2.36e-17	SMART
C2	306	422	1.37e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107505
AA Change: D83G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103129
Gene: ENSMUSG00000068923
AA Change: D83G

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
C2	172	276	2.36e-17	SMART
C2	306	422	1.37e-22	SMART

Predicted Effect

Meta Mutation Damage Score

0.0649

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (82/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that are known calcium sensors and mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. The encoded protein is also a substrate for ubiquitin-E3-ligase parkin. The gene has previously been referred to as synaptotagmin XII but has been renamed synaptotagmin XI to be consistent with mouse and rat official nomenclature. [provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygous mutation of this gene results in no obvious abnormal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,242,080 (GRCm39)	D1314E	probably benign	Het
Abcb1a	A	T	5: 8,724,707 (GRCm39)	R47W	probably benign	Het
Abcc6	T	C	7: 45,629,184 (GRCm39)	N1354S	probably damaging	Het
Abracl	T	C	10: 17,887,444 (GRCm39)	Y61C	probably damaging	Het
Adamtsl1	A	G	4: 86,208,027 (GRCm39)	T633A	probably benign	Het
Agap3	G	A	5: 24,681,439 (GRCm39)		probably benign	Het
Ago4	A	T	4: 126,400,904 (GRCm39)	M647K	probably damaging	Het
Akap7	G	T	10: 25,155,676 (GRCm39)	S72R	unknown	Het
Arhgef12	A	G	9: 42,885,870 (GRCm39)	L1251S	possibly damaging	Het
Astn2	A	T	4: 66,322,164 (GRCm39)	V145E	unknown	Het
Atxn2l	A	T	7: 126,097,393 (GRCm39)	S304R	probably damaging	Het
Cd226	A	T	18: 89,287,155 (GRCm39)	I318F	probably damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cfap65	A	T	1: 74,958,510 (GRCm39)		probably benign	Het
Cfap96	T	G	8: 46,415,403 (GRCm39)	D201A	probably benign	Het
Chtf8	A	G	8: 107,613,640 (GRCm39)	V18A	probably benign	Het
Cit	G	T	5: 116,074,896 (GRCm39)	E683*	probably null	Het
Ckmt2	T	C	13: 92,007,337 (GRCm39)	R286G	probably damaging	Het
Clec4a2	T	A	6: 123,116,218 (GRCm39)	W128R	probably damaging	Het
Clec4n	T	G	6: 123,212,447 (GRCm39)	S88A	probably damaging	Het
Cndp2	G	A	18: 84,699,121 (GRCm39)	A48V	probably benign	Het
Csmd1	T	C	8: 16,273,286 (GRCm39)	T849A	probably benign	Het
Cts3	A	T	13: 61,715,235 (GRCm39)	Y199*	probably null	Het
Dag1	A	T	9: 108,085,734 (GRCm39)	L469*	probably null	Het
Dclre1c	T	C	2: 3,439,125 (GRCm39)	V225A		Het
Dedd	A	G	1: 171,166,409 (GRCm39)	D115G	probably damaging	Het
Efcab3	T	A	11: 104,741,407 (GRCm39)	V2166D	probably benign	Het
Eif2ak3	T	A	6: 70,860,704 (GRCm39)	W427R	probably damaging	Het
Fbln2	T	A	6: 91,210,473 (GRCm39)	V139D	probably damaging	Het
Fbn1	A	T	2: 125,223,985 (GRCm39)	M588K	possibly damaging	Het
Gm17019	A	T	5: 15,081,113 (GRCm39)	Y109*	probably null	Het
Gm32742	T	A	9: 51,056,015 (GRCm39)	N1255Y	probably damaging	Het
Gm5431	T	A	11: 48,779,600 (GRCm39)	K441*	probably null	Het
Golga2	A	G	2: 32,196,079 (GRCm39)	D898G		Het
Gramd4	G	A	15: 85,975,525 (GRCm39)	R39H	probably benign	Het
Gucy1a2	A	G	9: 3,634,553 (GRCm39)	N199S	probably damaging	Het
Heyl	G	A	4: 123,139,885 (GRCm39)	R148H	probably damaging	Het
Ifi208	A	T	1: 173,523,400 (GRCm39)	M557L	probably benign	Het
Igf2r	A	G	17: 12,958,238 (GRCm39)	V145A	probably damaging	Het
Ighv1-4	A	T	12: 114,450,879 (GRCm39)	Y76*	probably null	Het
Ikzf4	T	C	10: 128,468,487 (GRCm39)	D664G	unknown	Het
Il1a	T	A	2: 129,146,715 (GRCm39)	Y126F	possibly damaging	Het
Lmf2	C	A	15: 89,239,771 (GRCm39)		probably benign	Het
Lyst	T	C	13: 13,808,827 (GRCm39)	S166P	probably damaging	Het
Mgat5	A	C	1: 127,294,197 (GRCm39)	T180P	probably benign	Het
Mical2	A	C	7: 111,870,589 (GRCm39)	K26T	possibly damaging	Het
Mov10	G	T	3: 104,711,659 (GRCm39)	Y209*	probably null	Het
Nol8	T	C	13: 49,815,475 (GRCm39)	Y528H	probably benign	Het
Numa1	T	A	7: 101,641,869 (GRCm39)	S106T	possibly damaging	Het
Or1e1d-ps1	A	T	11: 73,819,167 (GRCm39)	E39V	probably damaging	Het
Or4c124	G	A	2: 89,156,474 (GRCm39)	Q17*	probably null	Het
Or5b107	A	G	19: 13,142,396 (GRCm39)	N6S	probably damaging	Het
Or7g27	A	G	9: 19,250,026 (GRCm39)	H90R	probably benign	Het
Pcdhb14	A	G	18: 37,582,091 (GRCm39)	N399S	probably damaging	Het
Plcl2	T	A	17: 50,918,032 (GRCm39)	S944T	probably benign	Het
Pml	A	T	9: 58,127,660 (GRCm39)	I695N	probably benign	Het
Ppard	G	T	17: 28,505,349 (GRCm39)	R12L	unknown	Het
Ppip5k1	C	T	2: 121,158,125 (GRCm39)		probably null	Het
Ppp1r3g	T	C	13: 36,152,621 (GRCm39)	S14P	probably benign	Het
Pramel55	A	G	5: 95,951,623 (GRCm39)	Y470C	probably damaging	Het
Prrc2b	C	A	2: 32,103,764 (GRCm39)	R1081S	probably damaging	Het
Rasgrp2	A	T	19: 6,454,438 (GRCm39)	E160D	possibly damaging	Het
Rb1cc1	G	A	1: 6,333,073 (GRCm39)	V1331I	probably damaging	Het
Rnd3	A	T	2: 51,022,413 (GRCm39)	S210T	probably benign	Het
Scaf11	T	C	15: 96,312,764 (GRCm39)	T1426A	probably benign	Het
Sin3b	C	T	8: 73,460,034 (GRCm39)	T207I	possibly damaging	Het
Slc26a7	A	T	4: 14,593,873 (GRCm39)	Y81N	probably damaging	Het
Slc28a3	C	T	13: 58,724,581 (GRCm39)	M224I	probably benign	Het
Slc30a1	T	C	1: 191,639,342 (GRCm39)	I75T	probably damaging	Het
Slc6a21	T	A	7: 44,929,674 (GRCm39)		probably benign	Het
Slco2a1	T	A	9: 102,945,243 (GRCm39)	L206Q	probably damaging	Het
Spata31d1e	A	G	13: 59,890,828 (GRCm39)	S331P	probably benign	Het
Sptbn1	A	G	11: 30,104,356 (GRCm39)	V116A	probably damaging	Het
Syngap1	G	A	17: 27,181,095 (GRCm39)	D1008N	probably damaging	Het
Syt14	G	A	1: 192,584,131 (GRCm39)	T428I	probably damaging	Het
Taf15	T	A	11: 83,395,085 (GRCm39)	Y338*	probably null	Het
Tfap4	A	T	16: 4,365,183 (GRCm39)	M253K	possibly damaging	Het
Tnr	T	C	1: 159,713,680 (GRCm39)	S703P	possibly damaging	Het
Trrap	G	A	5: 144,767,830 (GRCm39)	D2577N	probably benign	Het
Uqcc6	A	T	10: 82,458,588 (GRCm39)	M21K	probably benign	Het
Wdr20	C	T	12: 110,759,597 (GRCm39)	S161L	possibly damaging	Het
Zfp503	C	A	14: 22,037,418 (GRCm39)	V62L	probably benign	Het

Other mutations in Syt11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Syt11	APN	3	88,669,523 (GRCm39)	missense	probably benign	0.01
IGL01404:Syt11	APN	3	88,669,523 (GRCm39)	missense	probably benign	0.01
IGL03031:Syt11	APN	3	88,656,148 (GRCm39)	start codon destroyed	probably null	0.06
R0041:Syt11	UTSW	3	88,655,210 (GRCm39)	missense	probably damaging	1.00
R0326:Syt11	UTSW	3	88,669,855 (GRCm39)	missense	possibly damaging	0.71
R0569:Syt11	UTSW	3	88,655,230 (GRCm39)	missense	probably benign	0.02
R0613:Syt11	UTSW	3	88,669,776 (GRCm39)	missense	probably damaging	1.00
R1209:Syt11	UTSW	3	88,655,147 (GRCm39)	missense	probably damaging	1.00
R1417:Syt11	UTSW	3	88,669,289 (GRCm39)	missense	probably damaging	1.00
R1530:Syt11	UTSW	3	88,669,674 (GRCm39)	missense	probably damaging	1.00
R1544:Syt11	UTSW	3	88,656,110 (GRCm39)	missense	probably benign	0.00
R1727:Syt11	UTSW	3	88,669,259 (GRCm39)	missense	possibly damaging	0.92
R4952:Syt11	UTSW	3	88,669,590 (GRCm39)	missense	possibly damaging	0.85
R5097:Syt11	UTSW	3	88,655,231 (GRCm39)	missense	probably benign	0.01
R5162:Syt11	UTSW	3	88,655,149 (GRCm39)	missense	probably damaging	1.00
R6024:Syt11	UTSW	3	88,669,416 (GRCm39)	missense	probably benign
R6875:Syt11	UTSW	3	88,669,462 (GRCm39)	missense	possibly damaging	0.84
R7013:Syt11	UTSW	3	88,655,296 (GRCm39)	missense	possibly damaging	0.82
R7761:Syt11	UTSW	3	88,669,778 (GRCm39)	missense	possibly damaging	0.68
R8218:Syt11	UTSW	3	88,669,427 (GRCm39)	missense	probably benign	0.01
R8833:Syt11	UTSW	3	88,655,149 (GRCm39)	missense	probably damaging	1.00
R8898:Syt11	UTSW	3	88,669,335 (GRCm39)	missense	probably benign	0.02
R8933:Syt11	UTSW	3	88,655,011 (GRCm39)	missense	probably damaging	1.00
R8937:Syt11	UTSW	3	88,655,051 (GRCm39)	missense	probably damaging	1.00
R9605:Syt11	UTSW	3	88,669,325 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- AACATCACGTCTTCCTCTGG -3'
(R):5'- TCAGATGTGTCACCGGTAGC -3'

Sequencing Primer
(F):5'- TTTGCTCTCACCAGGGGTCAG -3'
(R):5'- TAGCGGCTGGCCTCATC -3'

Posted On

2022-01-20