Mutagenetix > Incidental Mutation

Incidental Mutation 'R1123:Esyt1'

95877

Institutional Source

Beutler Lab

Gene Symbol

Esyt1

Ensembl Gene

ENSMUSG00000025366

Gene Name

extended synaptotagmin-like protein 1

Synonyms

Mbc2, Fam62a, vp115

MMRRC Submission

039196-MU

Accession Numbers

Essential gene?

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

Stock #

R1123 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128346117-128361728 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128352427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 728 (V728E)

Ref Sequence

ENSEMBL: ENSMUSP00000026427 (fasta)

Gene Model

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

AlphaFold

Q3U7R1

Predicted Effect

probably benign
Transcript: ENSMUST00000026427
AA Change: V728E

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000026427
Gene: ENSMUSG00000025366
AA Change: V728E

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

unknown
Transcript: ENSMUST00000220429
AA Change: V334E

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,154,906 (GRCm39)	M987K	probably benign	Het
Akap3	A	G	6: 126,842,929 (GRCm39)	D516G	probably benign	Het
Arhgap12	A	C	18: 6,031,822 (GRCm39)	V573G	probably damaging	Het
Ccdc122	T	C	14: 77,305,351 (GRCm39)	S2P	probably damaging	Het
Cel	T	C	2: 28,446,752 (GRCm39)	Y473C	probably damaging	Het
Cfap157	C	T	2: 32,667,935 (GRCm39)	V469M	possibly damaging	Het
Cyp2c40	C	G	19: 39,801,121 (GRCm39)	V45L	probably benign	Het
Dtx3l	C	T	16: 35,753,638 (GRCm39)	A323T	probably damaging	Het
Erap1	A	G	13: 74,821,762 (GRCm39)	T706A	probably benign	Het
Etnk2	A	G	1: 133,301,010 (GRCm39)	D259G	probably benign	Het
Evi5	T	G	5: 107,968,444 (GRCm39)	I184L	probably benign	Het
Fem1a	G	C	17: 56,564,791 (GRCm39)	D295H	probably damaging	Het
Hectd4	T	C	5: 121,424,799 (GRCm39)	F83S	probably damaging	Het
Hephl1	T	C	9: 14,991,436 (GRCm39)	T601A	probably benign	Het
Isoc1	T	C	18: 58,804,695 (GRCm39)	V201A	probably benign	Het
Kcnt2	A	T	1: 140,501,346 (GRCm39)	D830V	probably damaging	Het
Lrfn1	G	T	7: 28,166,544 (GRCm39)	C646F	possibly damaging	Het
Nbeal1	T	C	1: 60,299,428 (GRCm39)	Y1255H	probably benign	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Or4c120	A	G	2: 89,001,212 (GRCm39)	S115P	possibly damaging	Het
Or5k16	A	T	16: 58,736,697 (GRCm39)	Y102*	probably null	Het
Or9m1	A	C	2: 87,733,248 (GRCm39)	I257M	probably damaging	Het
Pik3r4	G	A	9: 105,540,328 (GRCm39)	A739T	probably benign	Het
Prpf8	T	C	11: 75,386,111 (GRCm39)	V920A	probably damaging	Het
Slc16a7	A	C	10: 125,067,016 (GRCm39)	S208A	probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slc35g2	A	T	9: 100,435,047 (GRCm39)	I208N	probably damaging	Het
Suclg1	A	G	6: 73,233,210 (GRCm39)	I51V	probably benign	Het
Thoc2l	T	C	5: 104,666,336 (GRCm39)	L286P	probably damaging	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
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
R6431:Esyt1	UTSW	10	128,352,543 (GRCm39)	critical splice donor site	probably null
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'- TTTGGTGGACGCTGACAAGAGG -3'
(R):5'- TGCCCCAACAGTGACTGCTATTC -3'

Sequencing Primer
(F):5'- TCTAACTCAGCAGCAGTCGG -3'
(R):5'- GTGATTGTCACATCAATCCCTGG -3'

Posted On

2014-01-05