Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00578:Esyt1'

4642

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Esyt1

Ensembl Gene

ENSMUSG00000025366

Gene Name

extended synaptotagmin-like protein 1

Synonyms

Mbc2, Fam62a, vp115

Accession Numbers

Essential gene?

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

Stock #

IGL00578

Quality Score

Status

Chromosome

Chromosomal Location

128346117-128361728 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128347612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 999 (S999P)

Ref Sequence

ENSEMBL: ENSMUSP00000026427 (fasta)

Gene Model

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

AlphaFold

Q3U7R1

Predicted Effect

probably damaging
Transcript: ENSMUST00000026427
AA Change: S999P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026427
Gene: ENSMUSG00000025366
AA Change: S999P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	A	G	11: 5,821,787 (GRCm39)	T729A	possibly damaging	Het
Ank3	C	A	10: 69,838,224 (GRCm39)	S864Y	possibly damaging	Het
Ankrd44	G	A	1: 54,701,806 (GRCm39)		probably benign	Het
Atp11c	C	T	X: 59,286,177 (GRCm39)	G996R	probably damaging	Het
Col11a1	A	G	3: 113,987,755 (GRCm39)	T250A	possibly damaging	Het
Cox8a	T	A	19: 7,192,770 (GRCm39)	Y65F	probably damaging	Het
Ctnnd1	G	T	2: 84,439,969 (GRCm39)	N451K	probably damaging	Het
D630045J12Rik	T	C	6: 38,171,865 (GRCm39)	T768A	probably benign	Het
Fyco1	A	G	9: 123,667,962 (GRCm39)	I88T	probably damaging	Het
Kdm2b	A	G	5: 123,099,630 (GRCm39)	V103A	probably damaging	Het
Klk1b26	T	C	7: 43,666,309 (GRCm39)	S251P	probably benign	Het
Krtap16-1	A	G	11: 99,876,121 (GRCm39)	S428P	probably benign	Het
Lrp1b	C	T	2: 40,569,185 (GRCm39)	V210I	unknown	Het
Mapk8ip3	A	T	17: 25,119,793 (GRCm39)	D1018E	probably damaging	Het
Nxph2	T	A	2: 23,290,334 (GRCm39)	C229S	probably damaging	Het
Prickle1	A	G	15: 93,398,662 (GRCm39)	L722P	probably benign	Het
Rbm12	A	T	2: 155,937,961 (GRCm39)		probably benign	Het
Rimoc1	C	A	15: 4,018,118 (GRCm39)	G186C	probably damaging	Het
Sfpq	T	C	4: 126,919,700 (GRCm39)	Y482H	probably damaging	Het
Sycp2	T	C	2: 177,992,615 (GRCm39)		probably benign	Het
Unc5b	A	G	10: 60,602,834 (GRCm39)	I866T	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
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
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

Posted On

2012-04-20