Mutagenetix > Incidental Mutation

Incidental Mutation 'R1813:Esyt1'

202571

Institutional Source

Beutler Lab

Gene Symbol

Esyt1

Ensembl Gene

ENSMUSG00000025366

Gene Name

extended synaptotagmin-like protein 1

Synonyms

vp115, Mbc2, Fam62a

MMRRC Submission

039841-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R1813 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128509965-128525871 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128519618 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 444 (D444G)

Ref Sequence

ENSEMBL: ENSMUSP00000026427 (fasta)

Gene Model

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

AlphaFold

Q3U7R1

Predicted Effect

probably benign
Transcript: ENSMUST00000026427
AA Change: D444G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026427
Gene: ENSMUSG00000025366
AA Change: D444G

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

probably benign
Transcript: ENSMUST00000026427
AA Change: D444G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026427
Gene: ENSMUSG00000025366
AA Change: D444G

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: ENSMUST00000217948

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218092

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220045

Predicted Effect

unknown
Transcript: ENSMUST00000220429
AA Change: D50G

Meta Mutation Damage Score

0.1831

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.8%
20x: 90.3%

Validation Efficiency

96% (79/82)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,566,273	N595Y	probably benign	Het
Abca6	A	G	11: 110,233,845		probably benign	Het
Abo	C	A	2: 26,843,597	D199Y	probably damaging	Het
Acvr1c	A	C	2: 58,280,294	V277G	probably damaging	Het
Adam23	G	A	1: 63,545,572	A380T	probably benign	Het
Art2b	A	G	7: 101,580,029	V221A	probably benign	Het
Bcam	A	G	7: 19,766,715	S153P	probably damaging	Het
Brip1	T	C	11: 86,187,080	H174R	possibly damaging	Het
Ccdc186	T	C	19: 56,800,169	D536G	probably benign	Het
Cd109	A	G	9: 78,617,005	N67S	probably benign	Het
Cd8a	G	T	6: 71,373,963	M137I	possibly damaging	Het
Ces2g	T	C	8: 104,966,937	F417L	probably benign	Het
Clec2g	A	G	6: 128,948,697	N23S	unknown	Het
Cntnap2	T	C	6: 46,530,633	Y61C	probably damaging	Het
Cog3	T	A	14: 75,742,344	E182D	probably benign	Het
Dbpht2	A	G	12: 74,295,850		noncoding transcript	Het
Dock4	A	T	12: 40,636,228	N154I	probably damaging	Het
Dysf	T	G	6: 84,151,924	V1422G	possibly damaging	Het
E2f3	T	C	13: 29,920,176	D140G	probably damaging	Het
Epb41l2	T	A	10: 25,441,568		probably null	Het
Epha2	A	G	4: 141,308,546	K98E	possibly damaging	Het
Fam163a	T	C	1: 156,080,041	T2A	probably damaging	Het
Foxp2	A	T	6: 15,379,768		probably benign	Het
Gcm2	T	C	13: 41,105,891	H34R	probably benign	Het
Gipr	A	G	7: 19,164,071	S79P	probably benign	Het
Gli3	T	C	13: 15,648,691	S333P	probably damaging	Het
Gm10717	T	G	9: 3,026,317	F205C	probably damaging	Het
Gm11639	A	G	11: 104,720,688	K452R	probably benign	Het
Gzmk	A	G	13: 113,172,893	S208P	probably damaging	Het
Htra2	G	T	6: 83,051,602	A318D	probably damaging	Het
Itpkc	T	C	7: 27,208,380	D633G	probably damaging	Het
Lama1	G	A	17: 67,791,223	R1805H	probably benign	Het
Lama4	T	A	10: 39,033,125		probably benign	Het
Lama4	T	C	10: 39,060,186	V619A	probably damaging	Het
Notch3	T	C	17: 32,143,428	T1408A	probably benign	Het
Nwd2	A	G	5: 63,805,410	D779G	probably benign	Het
Nxpe4	A	G	9: 48,393,378	Y255C	possibly damaging	Het
Obox6	A	T	7: 15,834,845	H35Q	possibly damaging	Het
Olfr324	A	G	11: 58,598,307	I304V	probably damaging	Het
Olfr890	T	A	9: 38,143,729	I198N	possibly damaging	Het
Pkig	T	A	2: 163,721,227	I26N	possibly damaging	Het
Plekhm2	C	T	4: 141,642,439	V82M	possibly damaging	Het
Plppr2	G	A	9: 21,947,924	A446T	probably damaging	Het
Psme4	T	A	11: 30,804,353	F203L	probably benign	Het
Sh3bp1	A	G	15: 78,903,680	K137E	probably damaging	Het
Shisa5	T	A	9: 109,056,040	I126N	probably damaging	Het
Slc11a1	T	C	1: 74,375,772	L21P	probably benign	Het
Slc35f1	C	T	10: 52,933,195	P93S	probably damaging	Het
Slc4a4	A	G	5: 89,046,308	T172A	probably damaging	Het
Slc9c1	A	T	16: 45,573,347	Y551F	probably benign	Het
Spata31	T	C	13: 64,921,798	S587P	probably benign	Het
Syna	C	A	5: 134,559,152	M314I	probably benign	Het
Taf5l	A	G	8: 124,003,413	L144P	probably damaging	Het
Tbccd1	T	C	16: 22,822,521	T369A	probably benign	Het
Tnfrsf11b	A	T	15: 54,256,097	C160*	probably null	Het
Trim45	A	G	3: 100,922,967	N19S	probably benign	Het
Uba2	A	G	7: 34,151,030	F364S	probably damaging	Het
Unc50	T	A	1: 37,437,242	L161Q	probably damaging	Het
Uso1	A	T	5: 92,201,133		probably null	Het
Usp25	A	G	16: 77,114,950	I956V	probably benign	Het
Utf1	C	A	7: 139,944,300	L143I	probably damaging	Het
Vmn1r158	C	T	7: 22,790,718	C22Y	probably damaging	Het
Vmn1r36	T	A	6: 66,716,772	M40L	probably benign	Het
Vmn2r43	A	G	7: 8,255,056	V386A	possibly damaging	Het
Vps9d1	C	A	8: 123,247,039	R335L	probably damaging	Het
Wasf1	T	A	10: 40,926,589	V80D	probably damaging	Het
Wdr72	G	A	9: 74,276,016	V1077I	possibly damaging	Het
Wnt8a	A	G	18: 34,542,369	M1V	probably null	Het
Zbtb26	A	G	2: 37,436,335	S230P	possibly damaging	Het
Zfp335	A	G	2: 164,892,605	V1247A	probably damaging	Het
Zfp429	T	C	13: 67,390,386	N313S	possibly damaging	Het
Zfp74	A	T	7: 29,935,144	C380S	probably damaging	Het
Zfyve21	G	A	12: 111,824,894	E134K	probably damaging	Het
Zmynd11	T	C	13: 9,689,580	T474A	possibly 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
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
R3919:Esyt1	UTSW	10	128521036	unclassified	probably benign
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'- GCCAAACTCACAGGAAGGTC -3'
(R):5'- GAAGGTATTACAGGCTGGAGTCC -3'

Sequencing Primer
(F):5'- CTGGGCTCGGTCCAAGTAGAC -3'
(R):5'- ATTACAGGCTGGAGTCCTGGATAATG -3'

Posted On

2014-06-23