Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01373:Esyt1'

84098

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Esyt1

Ensembl Gene

ENSMUSG00000025366

Gene Name

extended synaptotagmin-like protein 1

Synonyms

vp115, Mbc2, Fam62a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

IGL01373

Quality Score

Status

Chromosome

Chromosomal Location

128509965-128525871 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128518941 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 530 (E530G)

Ref Sequence

ENSEMBL: ENSMUSP00000026427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026427]

AlphaFold

Q3U7R1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026427
AA Change: E530G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026427
Gene: ENSMUSG00000025366
AA Change: E530G

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC
transmembrane domain	52	74	N/A	INTRINSIC
Pfam:SMP_LBD	125	303	4.3e-80	PFAM
C2	320	422	1.27e-17	SMART
C2	469	563	4.62e-11	SMART
C2	635	737	4.05e-25	SMART
C2	786	879	3.05e-11	SMART
low complexity region	909	921	N/A	INTRINSIC
C2	975	1080	1.51e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217948

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218092

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220045

Predicted Effect

unknown
Transcript: ENSMUST00000220429
AA Change: E136G

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	C	T	7: 119,711,419	R510*	probably null	Het
Adamts12	A	T	15: 11,310,730	E1024D	probably benign	Het
Aff2	T	A	X: 69,867,729	D1239E	possibly damaging	Het
Agps	T	C	2: 75,852,784	V151A	probably benign	Het
Cables1	A	T	18: 11,888,764	R276S	probably damaging	Het
Cep72	A	G	13: 74,059,459	S64P	probably damaging	Het
Cmah	A	T	13: 24,430,549	D159V	probably damaging	Het
Cox6a1	C	A	5: 115,345,839		probably benign	Het
Cpxm1	T	C	2: 130,394,135	E369G	probably damaging	Het
Dnah6	A	G	6: 73,074,748	L3021P	probably benign	Het
Fancd2	A	G	6: 113,553,752	I449V	probably benign	Het
Fbxw24	C	T	9: 109,623,633	G98D	probably damaging	Het
Folh1	T	C	7: 86,746,142	I361V	probably benign	Het
Gm12666	A	G	4: 92,191,625	V42A	probably damaging	Het
Gpr19	T	A	6: 134,870,321	H41L	possibly damaging	Het
Kcnq4	A	G	4: 120,717,032	V143A	probably damaging	Het
Lmcd1	A	G	6: 112,310,625	I91V	probably benign	Het
Lpin3	G	T	2: 160,903,729	D651Y	probably damaging	Het
Ms4a6b	A	T	19: 11,529,507	H220L	possibly damaging	Het
Mxd4	G	A	5: 34,184,346		probably benign	Het
Nxnl2	T	C	13: 51,171,452	F44L	probably damaging	Het
Olfr698	T	C	7: 106,752,446		probably benign	Het
Olfr744	T	A	14: 50,618,612	I130N	probably damaging	Het
Pcdhb20	A	T	18: 37,506,568	R716W	probably benign	Het
Pcx	T	A	19: 4,620,235		probably null	Het
Plekhf1	T	C	7: 38,221,797	T116A	probably benign	Het
Psmb2	G	T	4: 126,687,092	R93L	probably damaging	Het
Pstpip2	T	A	18: 77,835,216	L42*	probably null	Het
Ptpn22	A	T	3: 103,886,204	D557V	probably damaging	Het
Rbbp5	G	A	1: 132,492,601	V191I	probably benign	Het
Rgs1	T	A	1: 144,245,378	D185V	probably damaging	Het
Selenoh	A	G	2: 84,670,594		probably benign	Het
Slc6a5	C	T	7: 49,917,733	P312S	probably benign	Het
Snapc1	T	A	12: 73,964,680	M40K	probably benign	Het
Sptbn2	T	G	19: 4,745,972	Y1726*	probably null	Het
Syne2	T	C	12: 75,987,107	I3710T	probably damaging	Het
Tdrd9	G	A	12: 112,040,434	V911M	probably damaging	Het
Tex9	A	T	9: 72,480,754	D134E	possibly damaging	Het
Ttc41	G	T	10: 86,775,957	C1063F	possibly damaging	Het
Usp38	C	A	8: 80,990,018	A496S	possibly damaging	Het
Vmn2r13	T	A	5: 109,156,702	Y621F	probably damaging	Het
Vmn2r67	T	A	7: 85,136,626	M724L	probably benign	Het

Other mutations in Esyt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Esyt1	APN	10	128517635	missense	possibly damaging	0.94
IGL00518:Esyt1	APN	10	128521874	missense	probably benign	0.00
IGL00534:Esyt1	APN	10	128515684	critical splice donor site	probably null
IGL00578:Esyt1	APN	10	128511743	missense	probably damaging	1.00
IGL00899:Esyt1	APN	10	128517063	missense	probably damaging	1.00
IGL01308:Esyt1	APN	10	128519791	missense	possibly damaging	0.62
IGL01476:Esyt1	APN	10	128511494	missense	probably damaging	0.99
IGL01655:Esyt1	APN	10	128522312	missense	possibly damaging	0.72
IGL02302:Esyt1	APN	10	128512367	missense	probably damaging	1.00
IGL02441:Esyt1	APN	10	128512424	missense	possibly damaging	0.89
IGL02550:Esyt1	APN	10	128522093	missense	probably damaging	1.00
IGL02653:Esyt1	APN	10	128511008	missense	probably benign
IGL02948:Esyt1	APN	10	128519171	missense	probably damaging	0.96
IGL02986:Esyt1	APN	10	128516757	missense	probably damaging	0.96
IGL03033:Esyt1	APN	10	128516383	missense	probably benign	0.00
R0039:Esyt1	UTSW	10	128520962	missense	probably damaging	0.99
R0285:Esyt1	UTSW	10	128512218	missense	possibly damaging	0.50
R0453:Esyt1	UTSW	10	128512209	missense	probably benign	0.00
R1123:Esyt1	UTSW	10	128516558	missense	probably benign	0.35
R1496:Esyt1	UTSW	10	128512428	missense	possibly damaging	0.63
R1569:Esyt1	UTSW	10	128518994	missense	possibly damaging	0.88
R1691:Esyt1	UTSW	10	128525534	missense	probably benign	0.01
R1813:Esyt1	UTSW	10	128519618	missense	probably benign
R1827:Esyt1	UTSW	10	128516369	missense	probably benign	0.01
R2038:Esyt1	UTSW	10	128511951	missense	probably benign	0.00
R2039:Esyt1	UTSW	10	128511951	missense	probably benign	0.00
R2115:Esyt1	UTSW	10	128522104	missense	probably damaging	0.99
R2696:Esyt1	UTSW	10	128517045	missense	probably damaging	1.00
R3919:Esyt1	UTSW	10	128521036	unclassified	probably benign
R3980:Esyt1	UTSW	10	128511524	missense	probably damaging	0.99
R4223:Esyt1	UTSW	10	128520648	missense	probably damaging	1.00
R4225:Esyt1	UTSW	10	128520648	missense	probably damaging	1.00
R5249:Esyt1	UTSW	10	128516574	missense	probably benign	0.00
R5534:Esyt1	UTSW	10	128519460	missense	probably benign	0.07
R5704:Esyt1	UTSW	10	128511510	missense	probably damaging	1.00
R6252:Esyt1	UTSW	10	128511902	missense	probably benign	0.01
R6431:Esyt1	UTSW	10	128516674	critical splice donor site	probably null
R7013:Esyt1	UTSW	10	128525651	missense	probably damaging	1.00
R7102:Esyt1	UTSW	10	128516236	missense	probably damaging	0.98
R7152:Esyt1	UTSW	10	128515760	missense	possibly damaging	0.79
R7570:Esyt1	UTSW	10	128518932	missense	possibly damaging	0.52
R7700:Esyt1	UTSW	10	128515854	splice site	probably benign
R7732:Esyt1	UTSW	10	128521825	critical splice donor site	probably null
R8009:Esyt1	UTSW	10	128511485	missense	probably benign	0.01
R8049:Esyt1	UTSW	10	128512086	missense	probably benign
R8222:Esyt1	UTSW	10	128511778	missense	possibly damaging	0.77
R8365:Esyt1	UTSW	10	128516553	missense	possibly damaging	0.89
R8366:Esyt1	UTSW	10	128516553	missense	possibly damaging	0.89
R8407:Esyt1	UTSW	10	128511927	missense	probably damaging	1.00
R8962:Esyt1	UTSW	10	128520697	missense	possibly damaging	0.50
R9209:Esyt1	UTSW	10	128525487	missense	probably benign	0.00
R9305:Esyt1	UTSW	10	128519519	missense	possibly damaging	0.82
R9702:Esyt1	UTSW	10	128520738	missense	probably damaging	1.00
R9703:Esyt1	UTSW	10	128518927	critical splice donor site	probably null

Posted On

2013-11-11