Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02836:Esyt3'

361683

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Esyt3

Ensembl Gene

ENSMUSG00000037681

Gene Name

extended synaptotagmin-like protein 3

Synonyms

D9Ertd280e, Fam62c

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02836

Quality Score

Status

Chromosome

Chromosomal Location

99192016-99240610 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 99202960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140567 (fasta)

Gene Model

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

AlphaFold

Q5DTI8

Predicted Effect

probably benign
Transcript: ENSMUST00000042158

SMART Domains

Protein: ENSMUSP00000038757
Gene: ENSMUSG00000037681

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

noncoding transcript
Transcript: ENSMUST00000186626

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191694

Coding Region Coverage

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	A	4: 144,349,782 (GRCm39)	N346K	possibly damaging	Het
Abca15	A	G	7: 119,987,439 (GRCm39)	M1242V	probably benign	Het
Abca6	T	A	11: 110,139,374 (GRCm39)	E33D	probably damaging	Het
Abca8a	T	C	11: 109,961,177 (GRCm39)	K582E	possibly damaging	Het
Abcb6	A	G	1: 75,154,646 (GRCm39)	L263P	probably damaging	Het
Adamts2	A	C	11: 50,678,106 (GRCm39)	E795A	probably damaging	Het
Avil	T	A	10: 126,844,864 (GRCm39)	I292N	probably damaging	Het
Cd300ld2	T	C	11: 114,904,576 (GRCm39)	D97G	probably benign	Het
Cfh	A	C	1: 140,030,137 (GRCm39)	I912R	probably damaging	Het
Cyp26c1	A	T	19: 37,675,604 (GRCm39)	Q156L	probably benign	Het
Dhx57	T	C	17: 80,574,978 (GRCm39)	I614V	probably damaging	Het
Dip2c	T	A	13: 9,660,826 (GRCm39)	S896T	probably damaging	Het
Dmtn	G	T	14: 70,853,518 (GRCm39)	P97Q	probably damaging	Het
Dock6	A	T	9: 21,713,160 (GRCm39)	V1931E	probably damaging	Het
Dpep2	C	A	8: 106,717,227 (GRCm39)		probably null	Het
Dsg1c	T	A	18: 20,400,986 (GRCm39)	L163Q	probably benign	Het
Fcgbp	T	A	7: 27,816,783 (GRCm39)	I2415N	possibly damaging	Het
Fpr-rs6	T	C	17: 20,403,307 (GRCm39)	D18G	probably benign	Het
Fras1	T	C	5: 96,682,725 (GRCm39)	V74A	possibly damaging	Het
Frem3	T	C	8: 81,341,010 (GRCm39)	V1101A	probably benign	Het
Fut8	T	A	12: 77,496,987 (GRCm39)	V399E	probably benign	Het
Galntl5	G	T	5: 25,391,237 (GRCm39)	K45N	probably benign	Het
Gbe1	A	G	16: 70,357,983 (GRCm39)	Y669C	possibly damaging	Het
Gcnt1	T	C	19: 17,307,493 (GRCm39)	I77M	probably benign	Het
Itprid1	T	A	6: 55,875,075 (GRCm39)	W342R	probably damaging	Het
Mark2	A	G	19: 7,255,405 (GRCm39)		probably null	Het
Muc2	A	T	7: 141,300,450 (GRCm39)		probably benign	Het
Nacc2	C	T	2: 25,980,329 (GRCm39)	V36I	probably damaging	Het
Nphp1	T	C	2: 127,611,543 (GRCm39)	I268V	probably benign	Het
Oosp3	A	G	19: 11,678,332 (GRCm39)	I5V	probably benign	Het
Or9m1	T	G	2: 87,733,724 (GRCm39)	T99P	possibly damaging	Het
Pex7	A	G	10: 19,769,990 (GRCm39)		probably benign	Het
Prr14l	T	C	5: 32,988,440 (GRCm39)	K352E	probably benign	Het
Rheb	T	A	5: 25,008,709 (GRCm39)	I170F	probably benign	Het
Rpgrip1	A	G	14: 52,382,714 (GRCm39)		probably null	Het
Rps2	T	A	17: 24,939,650 (GRCm39)	L107Q	probably damaging	Het
Rrp1	A	T	10: 78,240,874 (GRCm39)		probably benign	Het
Rtcb	A	T	10: 85,779,806 (GRCm39)	V288D	possibly damaging	Het
Sec14l3	T	C	11: 4,020,084 (GRCm39)	F174L	probably benign	Het
Slc28a1	G	A	7: 80,775,909 (GRCm39)	V202M	probably damaging	Het
Slc44a3	A	T	3: 121,325,366 (GRCm39)	C32S	probably damaging	Het
Syne1	G	A	10: 5,359,875 (GRCm39)		probably benign	Het
Synrg	C	A	11: 83,892,804 (GRCm39)		probably benign	Het
Tmem219	A	T	7: 126,488,121 (GRCm39)	F265I	probably benign	Het
Tmem94	T	C	11: 115,683,765 (GRCm39)	I726T	probably damaging	Het
Trim37	T	C	11: 87,087,785 (GRCm39)	M632T	probably benign	Het
Trpm6	A	T	19: 18,790,846 (GRCm39)	Q627L	probably damaging	Het
Uvrag	A	G	7: 98,628,984 (GRCm39)	V361A	possibly damaging	Het
Yipf3	C	A	17: 46,562,520 (GRCm39)	N308K	possibly damaging	Het
Zfp438	A	G	18: 5,245,427 (GRCm39)		probably benign	Het
Zmiz1	T	A	14: 25,657,166 (GRCm39)		probably benign	Het
Zranb3	A	G	1: 127,888,562 (GRCm39)	V841A	probably benign	Het

Other mutations in Esyt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02576:Esyt3	APN	9	99,197,278 (GRCm39)	missense	probably benign	0.07
IGL02596:Esyt3	APN	9	99,210,068 (GRCm39)	missense	probably benign	0.02
IGL02716:Esyt3	APN	9	99,199,277 (GRCm39)	missense	probably damaging	1.00
IGL03372:Esyt3	APN	9	99,218,109 (GRCm39)	splice site	probably benign
R0008:Esyt3	UTSW	9	99,220,860 (GRCm39)	missense	possibly damaging	0.89
R1217:Esyt3	UTSW	9	99,200,097 (GRCm39)	missense	possibly damaging	0.92
R1395:Esyt3	UTSW	9	99,198,835 (GRCm39)	unclassified	probably benign
R1478:Esyt3	UTSW	9	99,200,119 (GRCm39)	missense	probably benign	0.03
R1710:Esyt3	UTSW	9	99,218,244 (GRCm39)	missense	probably benign
R1792:Esyt3	UTSW	9	99,240,169 (GRCm39)	nonsense	probably null
R1913:Esyt3	UTSW	9	99,202,364 (GRCm39)	missense	probably benign	0.00
R3792:Esyt3	UTSW	9	99,197,334 (GRCm39)	missense	possibly damaging	0.93
R3793:Esyt3	UTSW	9	99,197,334 (GRCm39)	missense	possibly damaging	0.93
R3937:Esyt3	UTSW	9	99,218,245 (GRCm39)	missense	probably benign
R3964:Esyt3	UTSW	9	99,202,375 (GRCm39)	missense	probably damaging	1.00
R3965:Esyt3	UTSW	9	99,202,375 (GRCm39)	missense	probably damaging	1.00
R4061:Esyt3	UTSW	9	99,202,891 (GRCm39)	missense	probably damaging	1.00
R4088:Esyt3	UTSW	9	99,206,290 (GRCm39)	missense	probably benign
R4436:Esyt3	UTSW	9	99,240,078 (GRCm39)	intron	probably benign
R5274:Esyt3	UTSW	9	99,200,350 (GRCm39)	missense	probably benign
R5590:Esyt3	UTSW	9	99,240,466 (GRCm39)	utr 5 prime	probably benign
R5705:Esyt3	UTSW	9	99,200,260 (GRCm39)	missense	probably benign	0.00
R6543:Esyt3	UTSW	9	99,220,825 (GRCm39)	missense	possibly damaging	0.77
R6738:Esyt3	UTSW	9	99,202,346 (GRCm39)	missense	probably damaging	0.98
R7000:Esyt3	UTSW	9	99,204,206 (GRCm39)	missense	probably damaging	0.99
R7019:Esyt3	UTSW	9	99,197,338 (GRCm39)	missense	probably benign	0.11
R7104:Esyt3	UTSW	9	99,220,840 (GRCm39)	missense	probably damaging	1.00
R7130:Esyt3	UTSW	9	99,200,223 (GRCm39)	missense	probably benign
R7141:Esyt3	UTSW	9	99,203,493 (GRCm39)	missense	probably benign	0.12
R7145:Esyt3	UTSW	9	99,201,627 (GRCm39)	missense	probably damaging	1.00
R7447:Esyt3	UTSW	9	99,203,615 (GRCm39)	missense	probably damaging	1.00
R7459:Esyt3	UTSW	9	99,240,117 (GRCm39)	missense	probably benign	0.00
R7767:Esyt3	UTSW	9	99,207,024 (GRCm39)	missense	probably benign	0.00
R8397:Esyt3	UTSW	9	99,209,966 (GRCm39)	missense	probably benign	0.01
R8560:Esyt3	UTSW	9	99,202,375 (GRCm39)	missense	probably damaging	1.00
R8882:Esyt3	UTSW	9	99,202,909 (GRCm39)	missense	probably damaging	0.99
R9320:Esyt3	UTSW	9	99,194,044 (GRCm39)	missense	probably damaging	1.00
R9537:Esyt3	UTSW	9	99,199,292 (GRCm39)	missense	probably damaging	0.98
R9786:Esyt3	UTSW	9	99,194,038 (GRCm39)	missense	possibly damaging	0.64

Posted On

2015-12-18