Mutagenetix > Incidental Mutation

Incidental Mutation 'R7130:Esyt3'

552591

Institutional Source

Beutler Lab

Gene Symbol

Esyt3

Ensembl Gene

ENSMUSG00000037681

Gene Name

extended synaptotagmin-like protein 3

Synonyms

D9Ertd280e, Fam62c

MMRRC Submission

045215-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7130 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99192016-99240610 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99200223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 657 (D657V)

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: D657V

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

SMART Domains

Protein: ENSMUSP00000038757
Gene: ENSMUSG00000037681
AA Change: D657V

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (63/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,418,021 (GRCm39)	T735I	possibly damaging	Het
Abtb3	A	C	10: 85,223,419 (GRCm39)	D76A	unknown	Het
Adcy10	T	A	1: 165,331,616 (GRCm39)	V83E	probably damaging	Het
Adcy6	A	G	15: 98,495,110 (GRCm39)	Y701H	probably benign	Het
Apbb1	G	A	7: 105,214,538 (GRCm39)	H518Y	probably damaging	Het
Arhgap20	T	A	9: 51,761,047 (GRCm39)	V966E	probably damaging	Het
Bbx	T	A	16: 50,030,805 (GRCm39)		probably null	Het
Bpifb9b	T	A	2: 154,153,592 (GRCm39)	N219K	probably damaging	Het
Cdk19	A	G	10: 40,355,761 (GRCm39)	T490A	unknown	Het
Cyb5r1	T	G	1: 134,335,759 (GRCm39)		probably benign	Het
Dnah14	C	T	1: 181,573,523 (GRCm39)	Q2945*	probably null	Het
Eif5b	A	G	1: 38,080,857 (GRCm39)	T733A	probably damaging	Het
Fat4	T	A	3: 39,034,936 (GRCm39)	F2863I	probably damaging	Het
Fbxw14	T	A	9: 109,100,350 (GRCm39)	I435L	probably benign	Het
Fus	G	A	7: 127,573,585 (GRCm39)	G253S	unknown	Het
Gdi2	T	C	13: 3,598,891 (GRCm39)	V25A	probably benign	Het
Gm28729	T	G	9: 96,401,457 (GRCm39)	R110S	probably benign	Het
Gucd1	A	G	10: 75,347,951 (GRCm39)	L28P	possibly damaging	Het
Hmgxb3	C	T	18: 61,265,450 (GRCm39)	S1176N	probably benign	Het
Islr2	T	C	9: 58,105,575 (GRCm39)	T606A	probably damaging	Het
Kcnf1	T	C	12: 17,225,810 (GRCm39)	D137G	probably benign	Het
Klkb1	T	A	8: 45,728,575 (GRCm39)	T395S	probably benign	Het
Morc2b	T	A	17: 33,355,262 (GRCm39)	S837C	possibly damaging	Het
Mrpl9	A	G	3: 94,354,597 (GRCm39)	R204G	probably benign	Het
Naaladl1	A	G	19: 6,156,018 (GRCm39)	E64G	probably benign	Het
Nlrx1	T	C	9: 44,173,638 (GRCm39)	E521G	possibly damaging	Het
Npc2	A	G	12: 84,812,081 (GRCm39)	S54P	probably damaging	Het
Nxpe2	T	C	9: 48,250,837 (GRCm39)	M37V	probably benign	Het
Or2ag17	A	G	7: 106,389,389 (GRCm39)	L273P	probably benign	Het
Or2w1	T	G	13: 21,317,416 (GRCm39)	V157G	probably benign	Het
Or4b1b	T	C	2: 90,112,266 (GRCm39)	I218V	probably benign	Het
Or9s27	C	T	1: 92,516,634 (GRCm39)	A194V	probably benign	Het
Osbpl9	G	A	4: 108,940,296 (GRCm39)	R213C	probably benign	Het
Pard3	C	A	8: 128,142,164 (GRCm39)	R907S	probably damaging	Het
Pcdhb11	A	G	18: 37,556,559 (GRCm39)	S630G	probably benign	Het
Pcdhb17	G	A	18: 37,618,498 (GRCm39)	C96Y	probably damaging	Het
Pclo	C	T	5: 14,729,356 (GRCm39)	T2738I	unknown	Het
Pcnx2	G	A	8: 126,480,323 (GRCm39)	R1995*	probably null	Het
Ppm1a	T	A	12: 72,831,007 (GRCm39)	N177K	probably benign	Het
Rfx6	A	T	10: 51,554,476 (GRCm39)	K106*	probably null	Het
Rhoh	T	C	5: 66,050,207 (GRCm39)	V159A	probably damaging	Het
Rreb1	T	C	13: 38,083,724 (GRCm39)	V129A	probably damaging	Het
Sdccag8	C	A	1: 176,702,167 (GRCm39)	A424D	probably damaging	Het
Sdf2	T	C	11: 78,136,823 (GRCm39)	M1T	probably null	Het
Sftpb	T	A	6: 72,282,808 (GRCm39)	F94I	possibly damaging	Het
Slc38a2	G	T	15: 96,589,263 (GRCm39)	H410Q	probably damaging	Het
Slc40a1	A	T	1: 45,960,384 (GRCm39)	V68E	probably damaging	Het
Spopfm3	T	C	3: 94,105,834 (GRCm39)	W51R	probably damaging	Het
Srd5a3	T	C	5: 76,297,684 (GRCm39)	V162A	possibly damaging	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Tango6	A	G	8: 107,533,733 (GRCm39)	D953G	probably damaging	Het
Tdrd7	T	C	4: 46,029,693 (GRCm39)	S1009P	probably damaging	Het
Thap3	T	C	4: 152,073,373 (GRCm39)	Y14C	possibly damaging	Het
Tmem143	T	A	7: 45,558,901 (GRCm39)	M281K	possibly damaging	Het
Trio	TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC	TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC	15: 27,742,399 (GRCm39)		probably benign	Het
Tsga10	A	G	1: 37,822,965 (GRCm39)	I516T	probably damaging	Het
Ttn	T	C	2: 76,721,013 (GRCm39)	I6804V	unknown	Het
Ubtfl1	C	A	9: 18,321,143 (GRCm39)	P224T	probably damaging	Het
Umad1	G	T	6: 8,427,185 (GRCm39)	C120F	probably null	Het
Unc93a2	T	C	17: 7,637,824 (GRCm39)	T304A	probably benign	Het
Vinac1	A	T	2: 128,881,101 (GRCm39)	V275D		Het
Vmn2r79	T	C	7: 86,651,474 (GRCm39)	V291A	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
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

Predicted Primers

PCR Primer
(F):5'- AGTTGAGTGAGGACATGCTG -3'
(R):5'- GGACCCGACGCTCTAAAGAAAG -3'

Sequencing Primer
(F):5'- CGTGAGTGGCCATGCGAATG -3'
(R):5'- AGGTCCTCTGTTCATCAAGAAGG -3'

Posted On

2019-05-15