Mutagenetix > Incidental Mutation

Incidental Mutation 'R8397:Esyt3'

647664

Institutional Source

Beutler Lab

Gene Symbol

Esyt3

Ensembl Gene

ENSMUSG00000037681

Gene Name

extended synaptotagmin-like protein 3

Synonyms

D9Ertd280e, Fam62c

MMRRC Submission

067760-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8397 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99192016-99240610 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99209966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 305 (V305I)

Ref Sequence

ENSEMBL: ENSMUSP00000038757 (fasta)

Gene Model

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

AlphaFold

Q5DTI8

Predicted Effect

probably benign
Transcript: ENSMUST00000042158
AA Change: V305I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000038757
Gene: ENSMUSG00000037681
AA Change: V305I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	A	G	8: 95,767,141 (GRCm39)	T499A	probably benign	Het
Ahsa1	G	T	12: 87,320,451 (GRCm39)	E311*	probably null	Het
Apol9a	C	T	15: 77,288,813 (GRCm39)	V185I	probably benign	Het
Arhgap27	T	A	11: 103,224,073 (GRCm39)	D580V	probably damaging	Het
Arpp21	A	C	9: 111,978,440 (GRCm39)	S298A	possibly damaging	Het
B4galnt2	T	A	11: 95,756,989 (GRCm39)	T481S	probably benign	Het
Cct8	G	A	16: 87,290,651 (GRCm39)	R59C	possibly damaging	Het
Cdhr5	C	T	7: 140,851,801 (GRCm39)	G501E	possibly damaging	Het
Chka	G	A	19: 3,902,414 (GRCm39)		probably null	Het
Cit	C	A	5: 116,024,856 (GRCm39)	N366K	probably benign	Het
Dennd4a	A	T	9: 64,796,391 (GRCm39)	M806L	probably benign	Het
Dhx9	T	A	1: 153,344,657 (GRCm39)	H510L	probably damaging	Het
Fbxo40	A	T	16: 36,790,985 (GRCm39)	C42S	probably damaging	Het
Fbxw26	T	C	9: 109,561,715 (GRCm39)	M160V	probably damaging	Het
Frem2	A	G	3: 53,560,562 (GRCm39)	V1315A	probably benign	Het
Gbp9	T	A	5: 105,231,464 (GRCm39)	N374I	possibly damaging	Het
Gm11992	T	G	11: 9,011,305 (GRCm39)	S249A	probably damaging	Het
Gm14418	T	A	2: 177,079,086 (GRCm39)	Q303L	probably damaging	Het
Hectd4	C	A	5: 121,397,957 (GRCm39)	P295Q	probably damaging	Het
Kdm2b	T	C	5: 123,018,579 (GRCm39)	N954D	probably benign	Het
Klf15	C	T	6: 90,443,778 (GRCm39)	H118Y	probably damaging	Het
Lrit2	G	T	14: 36,791,034 (GRCm39)	A238S	probably damaging	Het
Man2c1	A	C	9: 57,042,783 (GRCm39)	M218L	probably benign	Het
Map3k1	T	A	13: 111,892,138 (GRCm39)	H1039L	probably damaging	Het
Map3k9	A	G	12: 81,769,136 (GRCm39)	S971P	probably benign	Het
Map4k3	C	T	17: 80,971,446 (GRCm39)	V74I	probably damaging	Het
Mars1	A	T	10: 127,136,368 (GRCm39)	S486T	possibly damaging	Het
Mettl13	A	T	1: 162,371,887 (GRCm39)	S327R	possibly damaging	Het
Mkks	G	A	2: 136,722,923 (GRCm39)	T78M	possibly damaging	Het
Mst1	C	T	9: 107,958,698 (GRCm39)		probably benign	Het
Myh1	G	T	11: 67,112,465 (GRCm39)	A1811S	probably damaging	Het
Myh13	A	G	11: 67,241,113 (GRCm39)	H830R	possibly damaging	Het
Nek4	A	G	14: 30,692,505 (GRCm39)	D443G	possibly damaging	Het
Nf1	T	C	11: 79,438,518 (GRCm39)	L137P	probably damaging	Het
Nipsnap3b	T	C	4: 53,012,049 (GRCm39)		probably null	Het
Nos1ap	G	T	1: 170,155,194 (GRCm39)	P220T	unknown	Het
Nrxn3	T	A	12: 90,298,583 (GRCm39)	I368N	probably benign	Het
Nup133	T	A	8: 124,649,156 (GRCm39)	Q562L	probably benign	Het
Nup214	T	A	2: 31,880,266 (GRCm39)	L342Q	probably damaging	Het
Nxn	A	G	11: 76,163,232 (GRCm39)	S264P	probably damaging	Het
Or11g24	G	T	14: 50,662,137 (GRCm39)	D54Y	probably damaging	Het
Otud4	T	C	8: 80,395,927 (GRCm39)	S567P	probably benign	Het
Patl2	A	C	2: 121,955,754 (GRCm39)	S261A	probably damaging	Het
Pcdh15	C	T	10: 74,126,865 (GRCm39)	P315S	probably damaging	Het
Pcm1	T	A	8: 41,736,616 (GRCm39)	H827Q	probably damaging	Het
Pirb	G	A	7: 3,719,045 (GRCm39)	L615F	probably damaging	Het
Ppp1r12c	T	A	7: 4,492,768 (GRCm39)	H236L	probably damaging	Het
Prkd1	C	T	12: 50,439,675 (GRCm39)	G384E	probably benign	Het
Rmnd1	C	A	10: 4,377,278 (GRCm39)	E134*	probably null	Het
Rusc2	T	A	4: 43,424,206 (GRCm39)	H1090Q	possibly damaging	Het
Sema5b	A	C	16: 35,471,691 (GRCm39)	Y428S	possibly damaging	Het
Slc2a8	T	A	2: 32,866,010 (GRCm39)	I301L	probably benign	Het
Slc38a11	C	T	2: 65,160,635 (GRCm39)	V320M	probably damaging	Het
Slc4a5	G	T	6: 83,266,308 (GRCm39)		probably null	Het
Slc7a6	T	C	8: 106,920,165 (GRCm39)	I320T	probably damaging	Het
Slc8a3	A	G	12: 81,246,542 (GRCm39)	I837T	probably benign	Het
Spag1	C	T	15: 36,197,895 (GRCm39)	R286*	probably null	Het
Tlr3	A	T	8: 45,851,896 (GRCm39)	F334I	possibly damaging	Het
Unc13b	A	G	4: 43,217,290 (GRCm39)	I530V	probably benign	Het
Vmn2r68	T	C	7: 84,886,722 (GRCm39)	D64G	possibly damaging	Het
Zfp157	T	A	5: 138,454,518 (GRCm39)	Y239N	probably damaging	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
IGL02836:Esyt3	APN	9	99,202,960 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GAGCAGATCCTTCCCAGATG -3'
(R):5'- TGTCAGCACTGAGGATGGGTAC -3'

Sequencing Primer
(F):5'- AGATCCTTCCCAGATGGTGAC -3'
(R):5'- CTGAGGATGGGTACAGGGGC -3'

Posted On

2020-09-02