Mutagenetix > Incidental Mutation

Incidental Mutation 'R9537:Esyt3'

719749

Institutional Source

Beutler Lab

Gene Symbol

Esyt3

Ensembl Gene

ENSMUSG00000037681

Gene Name

extended synaptotagmin-like protein 3

Synonyms

Fam62c, D9Ertd280e

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9537 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99309963-99358557 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99317239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 773 (R773Q)

Ref Sequence

ENSEMBL: ENSMUSP00000038757 (fasta)

Gene Model

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

AlphaFold

Q5DTI8

Predicted Effect

probably damaging
Transcript: ENSMUST00000042158
AA Change: R773Q

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038757
Gene: ENSMUSG00000037681
AA Change: R773Q

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: 99.0%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	T	C	1: 93,153,162	K341E	possibly damaging	Het
Adgra3	A	G	5: 49,960,865	Y1114H	possibly damaging	Het
Atp5j	A	G	16: 84,828,470	Y82H	probably damaging	Het
Bcl2a1d	T	G	9: 88,731,473	I83L	probably benign	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Bglap3	T	C	3: 88,368,832	D71G	probably benign	Het
Bnip3l	G	A	14: 67,008,765	P7L	possibly damaging	Het
Chmp2b	T	C	16: 65,551,046	K15E	probably benign	Het
Chrm3	A	T	13: 9,877,426	W525R	probably damaging	Het
Col7a1	A	T	9: 108,955,352	K143*	probably null	Het
D6Ertd527e	G	C	6: 87,111,857	S334T	unknown	Het
Dnaic1	A	G	4: 41,629,790		probably null	Het
Dnhd1	G	A	7: 105,695,533	G2028D	probably damaging	Het
Ffar1	T	C	7: 30,860,600	T291A	probably benign	Het
Gm5767	G	T	16: 8,683,313	C11F		Het
Golga2	G	T	2: 32,288,301		probably benign	Het
Hapln2	T	A	3: 88,024,473		probably null	Het
Ing1	T	C	8: 11,561,889	L203P	probably benign	Het
Med1	T	C	11: 98,171,760	T171A	possibly damaging	Het
Mib2	A	T	4: 155,657,495	L387H	probably damaging	Het
Mier1	A	G	4: 103,162,561	N494S	probably benign	Het
Myof	A	G	19: 37,907,606	L1847P	probably damaging	Het
Ndst3	A	T	3: 123,671,513	V270D		Het
Nup160	T	C	2: 90,729,744	L1271S	possibly damaging	Het
Osgep	A	T	14: 50,924,662		probably null	Het
Ptgfr	G	T	3: 151,835,808	T21N	possibly damaging	Het
Ptgs1	T	C	2: 36,230,727	S23P	unknown	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,914		probably benign	Het
Smu1	A	G	4: 40,755,671	S65P	probably benign	Het
Spef2	T	C	15: 9,601,799	Y1459C	unknown	Het
Spen	A	G	4: 141,471,704	V3204A	probably benign	Het
Spen	TTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTG	4: 141,516,845		probably benign	Het
Timm44	G	A	8: 4,260,576	T392I	possibly damaging	Het
Tnc	A	T	4: 63,966,584	I1818N	probably damaging	Het
Trpm1	G	T	7: 64,153,868		probably benign	Het
Ttc14	A	G	3: 33,803,198	Y231C	probably damaging	Het
Ube3b	A	G	5: 114,387,184	R23G	probably damaging	Het
Usp40	T	C	1: 88,007,395	Y10C	probably benign	Het
Vmn2r107	C	A	17: 20,374,887	S567R	probably benign	Het
Zfp112	T	C	7: 24,127,087	Y831H	probably damaging	Het
Zfy2	T	A	Y: 2,108,596	T355S		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
R7019:Esyt3	UTSW	9	99315285	missense	probably benign	0.11
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
R8397:Esyt3	UTSW	9	99327913	missense	probably benign	0.01
R8560:Esyt3	UTSW	9	99320322	missense	probably damaging	1.00
R8882:Esyt3	UTSW	9	99320856	missense	probably damaging	0.99
R9320:Esyt3	UTSW	9	99311991	missense	probably damaging	1.00
R9786:Esyt3	UTSW	9	99311985	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- AAGCCCTTTTGACCCCATCAG -3'
(R):5'- CCTGGAGAGAATTATTGACTCGG -3'

Sequencing Primer
(F):5'- AGAAGGGCCACTCAGCACG -3'
(R):5'- CGGATGAGTCTGTGTTCCTCAC -3'

Posted On

2022-07-18