Mutagenetix > Incidental Mutations

Incidental Mutation 'R7019:Esyt3'

545513

Institutional Source

Beutler Lab

Gene Symbol

Esyt3

Ensembl Gene

ENSMUSG00000037681

Gene Name

extended synaptotagmin-like protein 3

Synonyms

Fam62c, D9Ertd280e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7019 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99309963-99358557 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99315285 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 831 (F831L)

Ref Sequence

ENSEMBL: ENSMUSP00000038757 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042158] [ENSMUST00000187520]

Predicted Effect

probably benign
Transcript: ENSMUST00000042158
AA Change: F831L

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000038757
Gene: ENSMUSG00000037681
AA Change: F831L

Domain	Start	End	E-Value	Type
transmembrane domain	54	76	N/A	INTRINSIC
Pfam:SMP_LBD	118	295	3.7e-63	PFAM
C2	311	411	9.23e-20	SMART
low complexity region	422	432	N/A	INTRINSIC
C2	449	563	6.6e-7	SMART
low complexity region	658	673	N/A	INTRINSIC
low complexity region	729	739	N/A	INTRINSIC
C2	775	880	4.91e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000187520

SMART Domains

Protein: ENSMUSP00000140567
Gene: ENSMUSG00000037681

Domain	Start	End	E-Value	Type
C2	2	83	5.9e-12	SMART
low complexity region	94	104	N/A	INTRINSIC
C2	121	198	2.2e-1	SMART

Meta Mutation Damage Score

0.1875

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (61/61)

MGI Phenotype

PHENOTYPE: Mice are viable and fertile without overt morphological defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	A	T	16: 8,618,531	K414*	probably null	Het
Aco1	T	A	4: 40,186,376	I596N	probably damaging	Het
Adgre1	A	C	17: 57,410,945	D319A	probably damaging	Het
BC067074	C	T	13: 113,351,750	T102I	probably benign	Het
Birc6	T	C	17: 74,609,345	V445A	probably benign	Het
Btd	A	C	14: 31,667,105	Q261P	probably damaging	Het
Btd	G	T	14: 31,667,106	Q261H	possibly damaging	Het
C7	T	A	15: 5,045,682	Y176F	probably benign	Het
Ccdc102a	T	C	8: 94,909,803	S287G	probably benign	Het
Ccdc178	T	A	18: 22,150,438	T12S	probably benign	Het
Cnga4	G	T	7: 105,405,829	A104S	probably benign	Het
Col10a1	G	T	10: 34,394,951	L306F	probably damaging	Het
Cpne5	T	C	17: 29,226,222	D36G	probably damaging	Het
Csmd2	G	A	4: 128,369,063	D681N		Het
Cstl1	A	G	2: 148,755,303	M75V	probably benign	Het
Cyp26a1	T	C	19: 37,698,812	L149P	probably damaging	Het
D630045J12Rik	T	G	6: 38,194,635	E866A	probably benign	Het
Dlec1	C	T	9: 119,112,422	P292L	probably benign	Het
Dpp3	T	G	19: 4,916,789	E402A	possibly damaging	Het
Egf	T	C	3: 129,718,064		probably null	Het
Epha5	T	C	5: 84,416,462	Q15R	possibly damaging	Het
Fam50b	G	A	13: 34,747,101	E187K	possibly damaging	Het
Fut7	A	G	2: 25,425,780	D350G	probably benign	Het
Gab1	C	A	8: 80,784,817	E466D	probably damaging	Het
Glrp1	A	T	1: 88,503,168	M160K	unknown	Het
Gngt1	T	C	6: 3,994,088		probably null	Het
Gprc6a	A	T	10: 51,631,412	V7E	possibly damaging	Het
Idh3b	A	T	2: 130,280,966	V301D	probably damaging	Het
Ifi202b	A	C	1: 173,963,958	C385G	probably benign	Het
Ilvbl	T	A	10: 78,579,086	L261Q	probably damaging	Het
Irx6	T	A	8: 92,678,734	L410Q	probably damaging	Het
Ism2	T	C	12: 87,299,663	M15V	unknown	Het
Itih5	C	A	2: 10,190,327	R177S	probably damaging	Het
Klra3	C	T	6: 130,327,124	G202R	probably damaging	Het
Krt7	T	C	15: 101,413,970	V103A	probably damaging	Het
Lama3	T	C	18: 12,528,418	S2145P	probably damaging	Het
Mlph	A	G	1: 90,941,706	R477G	probably damaging	Het
Mybpc1	T	A	10: 88,543,719	L653F	probably damaging	Het
Myrfl	A	G	10: 116,781,947		probably null	Het
Myrip	T	G	9: 120,422,507	L232R	probably damaging	Het
Nrd1	A	T	4: 109,028,802	H126L	probably benign	Het
Olfr251	T	A	9: 38,378,802	L307Q	possibly damaging	Het
Olfr469	G	T	7: 107,823,158	L104I	probably benign	Het
Olfr722	A	T	14: 49,895,667	I45N	probably damaging	Het
Pcdhb10	T	A	18: 37,413,003	N377K	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Prkdc	A	C	16: 15,769,966	I2572L	probably benign	Het
Ptpro	C	A	6: 137,380,478	D322E	probably benign	Het
R3hcc1	A	G	14: 69,704,125	I332T	probably damaging	Het
Rab8a	T	C	8: 72,161,383	F9L	probably damaging	Het
Ranbp3l	A	T	15: 9,057,160	K165N	probably damaging	Het
Rock2	T	A	12: 16,977,740	C1353S	probably damaging	Het
Rsad2	T	A	12: 26,456,419	M1L	possibly damaging	Het
Tymp	A	T	15: 89,376,281		probably null	Het
Vmn1r104	A	G	7: 20,534,566	M244V	probably benign	Het
Vmn1r232	G	A	17: 20,913,285	T351M	possibly damaging	Het
Vmn2r50	A	G	7: 10,050,245	Y101H	probably benign	Het
Vmn2r57	A	G	7: 41,428,665	L123P	probably damaging	Het
Wdr17	T	C	8: 54,681,453	N331D	probably damaging	Het
Wdr47	C	T	3: 108,614,355	Q89*	probably null	Het
Zcchc4	A	T	5: 52,784,033	T57S	probably benign	Het

Other mutations in Esyt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02576:Esyt3	APN	9	99315225	missense	probably benign	0.07
IGL02596:Esyt3	APN	9	99328015	missense	probably benign	0.02
IGL02716:Esyt3	APN	9	99317224	missense	probably damaging	1.00
IGL02836:Esyt3	APN	9	99320907	splice site	probably benign
IGL03372:Esyt3	APN	9	99336056	splice site	probably benign
R0008:Esyt3	UTSW	9	99338807	missense	possibly damaging	0.89
R1217:Esyt3	UTSW	9	99318044	missense	possibly damaging	0.92
R1395:Esyt3	UTSW	9	99316782	unclassified	probably benign
R1478:Esyt3	UTSW	9	99318066	missense	probably benign	0.03
R1710:Esyt3	UTSW	9	99336191	missense	probably benign
R1792:Esyt3	UTSW	9	99358116	nonsense	probably null
R1913:Esyt3	UTSW	9	99320311	missense	probably benign	0.00
R3792:Esyt3	UTSW	9	99315281	missense	possibly damaging	0.93
R3793:Esyt3	UTSW	9	99315281	missense	possibly damaging	0.93
R3937:Esyt3	UTSW	9	99336192	missense	probably benign
R3964:Esyt3	UTSW	9	99320322	missense	probably damaging	1.00
R3965:Esyt3	UTSW	9	99320322	missense	probably damaging	1.00
R4061:Esyt3	UTSW	9	99320838	missense	probably damaging	1.00
R4088:Esyt3	UTSW	9	99324237	missense	probably benign
R4436:Esyt3	UTSW	9	99358025	intron	probably benign
R5274:Esyt3	UTSW	9	99318297	missense	probably benign
R5590:Esyt3	UTSW	9	99358413	utr 5 prime	probably benign
R5705:Esyt3	UTSW	9	99318207	missense	probably benign	0.00
R6543:Esyt3	UTSW	9	99338772	missense	possibly damaging	0.77
R6738:Esyt3	UTSW	9	99320293	missense	probably damaging	0.98
R7000:Esyt3	UTSW	9	99322153	missense	probably damaging	0.99
R7104:Esyt3	UTSW	9	99338787	missense	probably damaging	1.00
R7130:Esyt3	UTSW	9	99318170	missense	probably benign
R7141:Esyt3	UTSW	9	99321440	missense	probably benign	0.12
R7145:Esyt3	UTSW	9	99319574	missense	probably damaging	1.00
R7447:Esyt3	UTSW	9	99321562	missense	probably damaging	1.00
R7459:Esyt3	UTSW	9	99358064	missense	probably benign	0.00
R7767:Esyt3	UTSW	9	99324971	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTAGGTGCCACATACTTATGG -3'
(R):5'- CCTGTGACTAAGACGCACTG -3'

Sequencing Primer
(F):5'- GGTGCCACATACTTATGGAATATTG -3'
(R):5'- CTAAGACGCACTGAGAGCCTG -3'

Posted On

2019-05-13