Mutagenetix > Incidental Mutation

Incidental Mutation 'R0039:Esyt1'

64642

Institutional Source

Beutler Lab

Gene Symbol

Esyt1

Ensembl Gene

ENSMUSG00000025366

Gene Name

extended synaptotagmin-like protein 1

Synonyms

Mbc2, Fam62a, vp115

MMRRC Submission

038333-MU

Accession Numbers

Essential gene?

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

Stock #

R0039 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

128346117-128361728 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128356831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 300 (V300A)

Ref Sequence

ENSEMBL: ENSMUSP00000026427 (fasta)

Gene Model

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

AlphaFold

Q3U7R1

Predicted Effect

probably damaging
Transcript: ENSMUST00000026427
AA Change: V300A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026427
Gene: ENSMUSG00000025366
AA Change: V300A

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: 98.8%
10x: 97.6%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atic	A	T	1: 71,617,009 (GRCm39)	E523V	possibly damaging	Het
Col18a1	T	G	10: 76,913,002 (GRCm39)	K744N	probably damaging	Het
Degs2	A	T	12: 108,656,848 (GRCm39)	Y283N	probably damaging	Het
Eif3m	A	T	2: 104,836,217 (GRCm39)	V209E	probably damaging	Het
Gnaz	A	G	10: 74,850,866 (GRCm39)	Y297C	probably damaging	Het
Lmtk2	G	T	5: 144,103,205 (GRCm39)	L321F	probably damaging	Het
Map3k10	A	G	7: 27,357,523 (GRCm39)	S752P	possibly damaging	Het
Mcoln2	C	T	3: 145,889,316 (GRCm39)	T374M	probably damaging	Het
Mroh8	T	C	2: 157,071,849 (GRCm39)	H552R	possibly damaging	Het
Rhbdl2	T	A	4: 123,703,822 (GRCm39)	N32K	probably benign	Het
Rreb1	C	T	13: 38,083,613 (GRCm39)	T92M	probably damaging	Het
Specc1	A	T	11: 61,920,195 (GRCm39)	M32L	probably damaging	Het
Stk31	T	C	6: 49,419,192 (GRCm39)	W700R	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
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

Predicted Primers

PCR Primer
(F):5'- ACTTGTCCTTGGAACTCAGACCTCG -3'
(R):5'- TCTGGACTTCCCAAAGTGCCAAC -3'

Sequencing Primer
(F):5'- AACTCAGACCTCGGGCTG -3'
(R):5'- gtgggaggttggagtttagtg -3'

Posted On

2013-08-06