Mutagenetix > Incidental Mutation

Incidental Mutation 'R6431:Esyt1'

518550

Institutional Source

Beutler Lab

Gene Symbol

Esyt1

Ensembl Gene

ENSMUSG00000025366

Gene Name

extended synaptotagmin-like protein 1

Synonyms

Mbc2, Fam62a, vp115

MMRRC Submission

044569-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R6431 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128346117-128361728 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 128352543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026427 (fasta)

Gene Model

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

AlphaFold

Q3U7R1

Predicted Effect

probably null
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: ENSMUST00000184514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217948

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218092

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220045

Predicted Effect

probably benign
Transcript: ENSMUST00000220429

Meta Mutation Damage Score

0.9599

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 93.9%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	A	G	16: 35,099,607 (GRCm39)	E719G	probably damaging	Het
Ankdd1a	A	G	9: 65,424,220 (GRCm39)	M31T	possibly damaging	Het
Atp13a5	T	C	16: 29,070,154 (GRCm39)	K911E	possibly damaging	Het
Bpifb3	G	T	2: 153,766,728 (GRCm39)	L210F	probably damaging	Het
Cacna1c	T	C	6: 118,728,334 (GRCm39)	Y211C	probably damaging	Het
Carm1	C	A	9: 21,494,373 (GRCm39)	P297T	probably damaging	Het
Cdh19	A	T	1: 110,852,787 (GRCm39)	Y383N	probably benign	Het
Cfap221	T	C	1: 119,860,583 (GRCm39)	H681R	probably damaging	Het
Cmya5	A	C	13: 93,210,972 (GRCm39)	S3274A	possibly damaging	Het
Cndp2	T	A	18: 84,693,203 (GRCm39)	K186*	probably null	Het
Ctdp1	G	T	18: 80,494,470 (GRCm39)	F310L	probably damaging	Het
Cyp2c55	A	T	19: 39,019,853 (GRCm39)	I264F	probably damaging	Het
Dhx40	A	T	11: 86,664,649 (GRCm39)	F628I	probably damaging	Het
Disc1	T	A	8: 125,862,128 (GRCm39)	M500K	possibly damaging	Het
Dnah5	A	C	15: 28,349,970 (GRCm39)	D2551A	possibly damaging	Het
Fam78a	T	C	2: 31,972,843 (GRCm39)	S26G	probably damaging	Het
Fn1	G	A	1: 71,687,003 (GRCm39)		probably null	Het
Gbx1	T	C	5: 24,709,916 (GRCm39)	T310A	probably benign	Het
Ggh	T	A	4: 20,042,219 (GRCm39)	C16S	unknown	Het
Gm11595	T	A	11: 99,663,600 (GRCm39)	T27S	unknown	Het
Gm17334	T	A	11: 53,663,564 (GRCm39)		probably benign	Het
Gsk3b	A	G	16: 38,014,311 (GRCm39)	I256M	probably damaging	Het
Hmcn1	A	T	1: 150,620,711 (GRCm39)	S1166R	probably benign	Het
Hyou1	T	C	9: 44,293,322 (GRCm39)		probably null	Het
Jup	G	T	11: 100,265,167 (GRCm39)	R637S	probably benign	Het
Lama2	T	A	10: 26,929,027 (GRCm39)	I2087F	possibly damaging	Het
Lamc1	T	G	1: 153,097,417 (GRCm39)	K1542N	probably benign	Het
Lgals4	G	T	7: 28,540,117 (GRCm39)			Het
Lrrc8d	A	G	5: 105,959,626 (GRCm39)	D12G	probably damaging	Het
Lrwd1	C	T	5: 136,161,888 (GRCm39)	V207M	possibly damaging	Het
Mbd1	T	A	18: 74,406,762 (GRCm39)		probably null	Het
Msi1	T	A	5: 115,588,984 (GRCm39)	I333N	probably damaging	Het
Neo1	C	T	9: 58,814,354 (GRCm39)	V871I	probably benign	Het
Nr2c1	T	C	10: 94,024,078 (GRCm39)	C428R	probably damaging	Het
Ntm	A	G	9: 29,322,978 (GRCm39)	L14P	probably damaging	Het
Nxpe4	A	T	9: 48,304,145 (GRCm39)	K77N	probably damaging	Het
Or1p1c	A	C	11: 74,160,235 (GRCm39)	T7P	possibly damaging	Het
Or4c119	T	A	2: 88,987,505 (GRCm39)	S5C	probably damaging	Het
Or4f17-ps1	T	A	2: 111,358,001 (GRCm39)	M132K	probably damaging	Het
Or8g30	T	C	9: 39,230,074 (GRCm39)	T279A	possibly damaging	Het
Or8k18	G	A	2: 86,085,702 (GRCm39)	L112F	probably benign	Het
Pappa	T	A	4: 65,074,701 (GRCm39)	D418E	probably damaging	Het
Pde4d	G	A	13: 109,738,320 (GRCm39)		probably null	Het
Pip	A	G	6: 41,828,391 (GRCm39)	N75S	possibly damaging	Het
Plcl1	G	C	1: 55,736,411 (GRCm39)	R584P	probably benign	Het
Pnp	A	T	14: 51,188,471 (GRCm39)	D237V	probably damaging	Het
Ppp1r12a	T	C	10: 108,098,281 (GRCm39)	W857R	probably damaging	Het
Pramel13	T	C	4: 144,119,653 (GRCm39)	T305A	possibly damaging	Het
Ptchd3	A	T	11: 121,727,229 (GRCm39)	M368L	probably benign	Het
Pum1	T	A	4: 130,501,816 (GRCm39)	S868R	probably damaging	Het
R3hdml	A	T	2: 163,344,324 (GRCm39)	S238C	probably damaging	Het
Robo2	G	A	16: 73,843,697 (GRCm39)	R173*	probably null	Het
Sall3	A	G	18: 81,016,402 (GRCm39)	S509P	possibly damaging	Het
Sap130	T	G	18: 31,799,418 (GRCm39)	H298Q	possibly damaging	Het
Selenov	C	A	7: 27,987,458 (GRCm39)	G307C	probably damaging	Het
Setd2	T	A	9: 110,379,453 (GRCm39)	H1089Q	possibly damaging	Het
Setdb2	T	C	14: 59,656,505 (GRCm39)	N287D	probably damaging	Het
Sis	C	T	3: 72,865,507 (GRCm39)	V182I	probably benign	Het
Slc32a1	A	C	2: 158,453,457 (GRCm39)	D99A	probably benign	Het
Slk	A	G	19: 47,609,327 (GRCm39)	D760G	probably damaging	Het
Smg5	T	A	3: 88,258,527 (GRCm39)	D499E	probably benign	Het
Spata31e2	T	A	1: 26,723,111 (GRCm39)	N690Y	probably benign	Het
Stat3	T	C	11: 100,780,400 (GRCm39)	T720A	possibly damaging	Het
Trdn	T	G	10: 33,015,110 (GRCm39)	N21K	probably damaging	Het
Trpm4	A	T	7: 44,975,992 (GRCm39)	V118E	possibly damaging	Het
Vgll3	A	G	16: 65,612,640 (GRCm39)	Q41R	probably damaging	Het
Vmn1r189	A	G	13: 22,286,525 (GRCm39)	V104A	probably damaging	Het
Vmn1r46	A	T	6: 89,953,389 (GRCm39)	R79S	probably benign	Het
Zscan4c	T	C	7: 10,740,856 (GRCm39)	M125T	probably benign	Het

Other mutations in Esyt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Esyt1	APN	10	128,353,504 (GRCm39)	missense	possibly damaging	0.94
IGL00518:Esyt1	APN	10	128,357,743 (GRCm39)	missense	probably benign	0.00
IGL00534:Esyt1	APN	10	128,351,553 (GRCm39)	critical splice donor site	probably null
IGL00578:Esyt1	APN	10	128,347,612 (GRCm39)	missense	probably damaging	1.00
IGL00899:Esyt1	APN	10	128,352,932 (GRCm39)	missense	probably damaging	1.00
IGL01308:Esyt1	APN	10	128,355,660 (GRCm39)	missense	possibly damaging	0.62
IGL01373:Esyt1	APN	10	128,354,810 (GRCm39)	missense	possibly damaging	0.91
IGL01476:Esyt1	APN	10	128,347,363 (GRCm39)	missense	probably damaging	0.99
IGL01655:Esyt1	APN	10	128,358,181 (GRCm39)	missense	possibly damaging	0.72
IGL02302:Esyt1	APN	10	128,348,236 (GRCm39)	missense	probably damaging	1.00
IGL02441:Esyt1	APN	10	128,348,293 (GRCm39)	missense	possibly damaging	0.89
IGL02550:Esyt1	APN	10	128,357,962 (GRCm39)	missense	probably damaging	1.00
IGL02653:Esyt1	APN	10	128,346,877 (GRCm39)	missense	probably benign
IGL02948:Esyt1	APN	10	128,355,040 (GRCm39)	missense	probably damaging	0.96
IGL02986:Esyt1	APN	10	128,352,626 (GRCm39)	missense	probably damaging	0.96
IGL03033:Esyt1	APN	10	128,352,252 (GRCm39)	missense	probably benign	0.00
R0039:Esyt1	UTSW	10	128,356,831 (GRCm39)	missense	probably damaging	0.99
R0285:Esyt1	UTSW	10	128,348,087 (GRCm39)	missense	possibly damaging	0.50
R0453:Esyt1	UTSW	10	128,348,078 (GRCm39)	missense	probably benign	0.00
R1123:Esyt1	UTSW	10	128,352,427 (GRCm39)	missense	probably benign	0.35
R1496:Esyt1	UTSW	10	128,348,297 (GRCm39)	missense	possibly damaging	0.63
R1569:Esyt1	UTSW	10	128,354,863 (GRCm39)	missense	possibly damaging	0.88
R1691:Esyt1	UTSW	10	128,361,403 (GRCm39)	missense	probably benign	0.01
R1813:Esyt1	UTSW	10	128,355,487 (GRCm39)	missense	probably benign
R1827:Esyt1	UTSW	10	128,352,238 (GRCm39)	missense	probably benign	0.01
R2038:Esyt1	UTSW	10	128,347,820 (GRCm39)	missense	probably benign	0.00
R2039:Esyt1	UTSW	10	128,347,820 (GRCm39)	missense	probably benign	0.00
R2115:Esyt1	UTSW	10	128,357,973 (GRCm39)	missense	probably damaging	0.99
R2696:Esyt1	UTSW	10	128,352,914 (GRCm39)	missense	probably damaging	1.00
R3919:Esyt1	UTSW	10	128,356,905 (GRCm39)	unclassified	probably benign
R3980:Esyt1	UTSW	10	128,347,393 (GRCm39)	missense	probably damaging	0.99
R4223:Esyt1	UTSW	10	128,356,517 (GRCm39)	missense	probably damaging	1.00
R4225:Esyt1	UTSW	10	128,356,517 (GRCm39)	missense	probably damaging	1.00
R5249:Esyt1	UTSW	10	128,352,443 (GRCm39)	missense	probably benign	0.00
R5534:Esyt1	UTSW	10	128,355,329 (GRCm39)	missense	probably benign	0.07
R5704:Esyt1	UTSW	10	128,347,379 (GRCm39)	missense	probably damaging	1.00
R6252:Esyt1	UTSW	10	128,347,771 (GRCm39)	missense	probably benign	0.01
R7013:Esyt1	UTSW	10	128,361,520 (GRCm39)	missense	probably damaging	1.00
R7102:Esyt1	UTSW	10	128,352,105 (GRCm39)	missense	probably damaging	0.98
R7152:Esyt1	UTSW	10	128,351,629 (GRCm39)	missense	possibly damaging	0.79
R7570:Esyt1	UTSW	10	128,354,801 (GRCm39)	missense	possibly damaging	0.52
R7700:Esyt1	UTSW	10	128,351,723 (GRCm39)	splice site	probably benign
R7732:Esyt1	UTSW	10	128,357,694 (GRCm39)	critical splice donor site	probably null
R8009:Esyt1	UTSW	10	128,347,354 (GRCm39)	missense	probably benign	0.01
R8049:Esyt1	UTSW	10	128,347,955 (GRCm39)	missense	probably benign
R8222:Esyt1	UTSW	10	128,347,647 (GRCm39)	missense	possibly damaging	0.77
R8365:Esyt1	UTSW	10	128,352,422 (GRCm39)	missense	possibly damaging	0.89
R8366:Esyt1	UTSW	10	128,352,422 (GRCm39)	missense	possibly damaging	0.89
R8407:Esyt1	UTSW	10	128,347,796 (GRCm39)	missense	probably damaging	1.00
R8962:Esyt1	UTSW	10	128,356,566 (GRCm39)	missense	possibly damaging	0.50
R9209:Esyt1	UTSW	10	128,361,356 (GRCm39)	missense	probably benign	0.00
R9305:Esyt1	UTSW	10	128,355,388 (GRCm39)	missense	possibly damaging	0.82
R9702:Esyt1	UTSW	10	128,356,607 (GRCm39)	missense	probably damaging	1.00
R9703:Esyt1	UTSW	10	128,354,796 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCAAGATCAGGGGACACTGG -3'
(R):5'- TCATGGGGATGTGGTCAACC -3'

Sequencing Primer
(F):5'- TGGCTCTCAGTGCATGC -3'
(R):5'- ATGTGGTCAACCGATGGGG -3'

Posted On

2018-05-24