Mutagenetix > Incidental Mutation

Incidental Mutation 'R3919:Esyt1'

306905

Institutional Source

Beutler Lab

Gene Symbol

Esyt1

Ensembl Gene

ENSMUSG00000025366

Gene Name

extended synaptotagmin-like protein 1

Synonyms

vp115, Mbc2, Fam62a

MMRRC Submission

040817-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R3919 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128509965-128525871 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 128521036 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q3U7R1

Predicted Effect

probably benign
Transcript: ENSMUST00000026427

SMART Domains

Protein: ENSMUSP00000026427
Gene: ENSMUSG00000025366

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: ENSMUST00000185270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188089

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217948

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218092

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220045

Predicted Effect

probably benign
Transcript: ENSMUST00000220429

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	G	T	7: 44,230,428		probably benign	Het
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
Abcb5	A	G	12: 118,890,618	M854T	possibly damaging	Het
Akap9	T	A	5: 3,961,764	Y822*	probably null	Het
Apoe	T	C	7: 19,696,547	T257A	probably benign	Het
Atm	C	A	9: 53,492,278	A1365S	probably benign	Het
Bmp2k	T	C	5: 97,074,740	S674P	unknown	Het
Cd177	T	C	7: 24,744,433	S747G	probably benign	Het
Cdk5rap2	A	G	4: 70,380,223	F91L	possibly damaging	Het
Chil4	A	T	3: 106,202,532	N388K	probably benign	Het
Dnah3	G	A	7: 119,951,080	L3328F	probably damaging	Het
Dysf	G	A	6: 84,186,509		probably null	Het
Ercc5	C	A	1: 44,161,931	T217K	probably damaging	Het
Ifih1	C	A	2: 62,623,501		probably benign	Het
Ints12	A	T	3: 133,100,683	T124S	probably benign	Het
Kdm5d	T	C	Y: 939,914	L1022P	probably damaging	Het
Lama2	T	A	10: 27,118,505	N1803Y	probably damaging	Het
Lpcat2	C	T	8: 92,914,274	T449I	probably damaging	Het
Ly6c2	A	T	15: 75,108,764		probably null	Het
Mast3	T	C	8: 70,779,422	K1304E	probably benign	Het
Mdm4	T	C	1: 132,994,568	K279E	possibly damaging	Het
Mest	G	A	6: 30,742,750	S132N	probably benign	Het
Mras	T	A	9: 99,411,420	I56F	probably damaging	Het
Mrgprb1	T	C	7: 48,448,081	K28E	probably benign	Het
Myrip	G	A	9: 120,432,629	G436D	probably damaging	Het
Nr2e3	T	A	9: 59,943,440	T379S	probably damaging	Het
Olfr1065	A	G	2: 86,445,418	V188A	probably benign	Het
Plscr3	T	A	11: 69,847,410		probably benign	Het
Pola1	C	A	X: 93,461,472	R1313L	probably benign	Het
Ppt2	T	C	17: 34,622,923	N213S	probably damaging	Het
Prelid2	T	A	18: 41,937,675	D31V	possibly damaging	Het
Psmb9	C	T	17: 34,183,614		probably null	Het
Rec8	A	G	14: 55,621,259	T164A	probably benign	Het
Rnf103	G	A	6: 71,510,347	R654Q	probably benign	Het
Setdb2	T	A	14: 59,419,167	I250F	probably damaging	Het
Slurp1	A	T	15: 74,726,810	*111K	probably null	Het
Sphkap	T	G	1: 83,276,458	E903A	probably damaging	Het
Sst	T	C	16: 23,889,841	D80G	possibly damaging	Het
Stat4	C	T	1: 52,096,822	T430I	possibly damaging	Het
Tmprss4	C	T	9: 45,180,666	V174M	probably benign	Het
Trim6	A	T	7: 104,232,850	Y436F	probably damaging	Het
Ttc28	C	A	5: 111,285,379	A2093E	possibly damaging	Het
Vav3	A	G	3: 109,527,538	N462D	possibly damaging	Het
Whrn	G	T	4: 63,495,184	S17*	probably null	Het
Zfhx4	T	A	3: 5,399,115	S1469R	possibly damaging	Het
Zfp108	T	A	7: 24,260,832	C283S	probably damaging	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
IGL01373:Esyt1	APN	10	128518941	missense	possibly damaging	0.91
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
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

Predicted Primers

PCR Primer
(F):5'- GCCCTTGAGAGAAAGCTCAGTC -3'
(R):5'- AGAAAGGGTCTGGACTTCCC -3'

Sequencing Primer
(F):5'- CCTTGAGAGAAAGCTCAGTCTTCTG -3'
(R):5'- CACATCTATAATCCTGGGACGTGG -3'

Posted On

2015-04-17