Mutagenetix > Incidental Mutation

Incidental Mutation 'R0453:Esyt1'

39789

Institutional Source

Beutler Lab

Gene Symbol

Esyt1

Ensembl Gene

ENSMUSG00000025366

Gene Name

extended synaptotagmin-like protein 1

Synonyms

Mbc2, Fam62a, vp115

MMRRC Submission

038653-MU

Accession Numbers

Essential gene?

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

Stock #

R0453 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128346117-128361728 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128348078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 901 (S901P)

Ref Sequence

ENSEMBL: ENSMUSP00000026427 (fasta)

Gene Model

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

AlphaFold

Q3U7R1

Predicted Effect

probably benign
Transcript: ENSMUST00000026427
AA Change: S901P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000026427
Gene: ENSMUSG00000025366
AA Change: S901P

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

0.1136

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.6%

Validation Efficiency

99% (97/98)

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,765,445 (GRCm39)	K843*	probably null	Het
Adam26b	T	C	8: 43,973,387 (GRCm39)	I538M	probably benign	Het
Adamtsl1	T	C	4: 86,150,852 (GRCm39)	Y337H	probably damaging	Het
Ak7	T	C	12: 105,682,307 (GRCm39)	M156T	probably damaging	Het
Aldh3a1	A	G	11: 61,106,338 (GRCm39)	M238V	probably benign	Het
Asic4	T	A	1: 75,450,155 (GRCm39)		probably benign	Het
AW551984	A	G	9: 39,511,937 (GRCm39)	S25P	probably damaging	Het
Bbs7	T	A	3: 36,661,818 (GRCm39)	Y127F	possibly damaging	Het
Bco1	G	A	8: 117,835,516 (GRCm39)	E156K	possibly damaging	Het
Becn1	T	C	11: 101,181,275 (GRCm39)	D342G	probably damaging	Het
Birc6	T	A	17: 74,956,749 (GRCm39)	I3575N	probably damaging	Het
Brd10	T	C	19: 29,731,068 (GRCm39)	Y715C	probably damaging	Het
Cc2d2a	A	T	5: 43,860,636 (GRCm39)	M522L	probably benign	Het
Cerkl	A	G	2: 79,172,795 (GRCm39)	F293L	probably benign	Het
Chil3	T	G	3: 106,056,221 (GRCm39)	N311T	probably benign	Het
Cpeb2	T	A	5: 43,443,056 (GRCm39)		probably benign	Het
Cpxm2	A	G	7: 131,730,134 (GRCm39)	S162P	probably damaging	Het
Cracr2b	A	C	7: 141,044,176 (GRCm39)	E136A	probably damaging	Het
Cyp2a4	T	A	7: 26,012,258 (GRCm39)	M347K	probably benign	Het
Dicer1	C	A	12: 104,668,889 (GRCm39)	R1264S	probably benign	Het
Dlgap1	T	A	17: 71,068,341 (GRCm39)	N609K	probably benign	Het
Dnhd1	A	G	7: 105,323,651 (GRCm39)	T641A	probably benign	Het
Egfl8	T	C	17: 34,833,856 (GRCm39)	Y74C	probably damaging	Het
Fam83e	A	T	7: 45,373,372 (GRCm39)	D246V	probably damaging	Het
Galnt2	T	C	8: 125,065,323 (GRCm39)		probably benign	Het
Hdc	A	G	2: 126,436,871 (GRCm39)		probably benign	Het
Herc1	A	C	9: 66,307,054 (GRCm39)	Q958P	probably benign	Het
Iqcg	T	A	16: 32,870,213 (GRCm39)		probably benign	Het
Iqub	A	T	6: 24,450,829 (GRCm39)	F590Y	probably damaging	Het
Jak2	T	C	19: 29,289,238 (GRCm39)	I1130T	probably benign	Het
Kbtbd11	G	A	8: 15,077,499 (GRCm39)	A33T	probably benign	Het
Kcnip4	A	G	5: 48,667,054 (GRCm39)	L37P	probably damaging	Het
Klk6	A	G	7: 43,477,963 (GRCm39)	N112D	probably damaging	Het
Kmt2c	G	A	5: 25,559,745 (GRCm39)	T1011I	probably damaging	Het
Knl1	A	T	2: 118,898,869 (GRCm39)	K190M	probably damaging	Het
Lama3	T	A	18: 12,598,535 (GRCm39)	S981T	possibly damaging	Het
Lrrc18	T	C	14: 32,730,608 (GRCm39)	L49P	probably damaging	Het
Lrrc31	T	C	3: 30,741,674 (GRCm39)	E245G	probably damaging	Het
Lypd10	T	A	7: 24,413,712 (GRCm39)	S243T	probably benign	Het
Macf1	T	C	4: 123,338,737 (GRCm39)	I2456M	probably benign	Het
Mcm6	T	A	1: 128,261,292 (GRCm39)	T771S	probably benign	Het
Met	A	C	6: 17,534,197 (GRCm39)	Y680S	possibly damaging	Het
Mixl1	T	A	1: 180,524,211 (GRCm39)	T123S	probably damaging	Het
Myh8	A	T	11: 67,183,731 (GRCm39)	I787F	probably benign	Het
Myocd	A	G	11: 65,087,051 (GRCm39)	F292S	probably damaging	Het
Neb	T	C	2: 52,203,902 (GRCm39)		probably null	Het
Nfe2l1	A	G	11: 96,718,194 (GRCm39)	S114P	probably damaging	Het
Nrxn2	T	C	19: 6,541,551 (GRCm39)	S986P	probably damaging	Het
Oprl1	T	C	2: 181,360,527 (GRCm39)		probably null	Het
Or11h6	T	C	14: 50,880,461 (GRCm39)	V241A	possibly damaging	Het
Or4a73	A	T	2: 89,421,095 (GRCm39)	Y121*	probably null	Het
Or5b101	T	G	19: 13,005,295 (GRCm39)	T133P	probably damaging	Het
Or6c8	A	G	10: 128,915,640 (GRCm39)	F64S	probably damaging	Het
Or8b53	G	A	9: 38,667,425 (GRCm39)	G147D	probably damaging	Het
Or8c9	A	T	9: 38,241,467 (GRCm39)	T195S	probably benign	Het
Panx2	T	A	15: 88,952,610 (GRCm39)	I359N	probably damaging	Het
Pik3c2b	T	A	1: 133,005,134 (GRCm39)	V545E	probably damaging	Het
Piwil4	T	C	9: 14,638,748 (GRCm39)	N259S	probably benign	Het
Plcxd2	A	T	16: 45,800,919 (GRCm39)	F102I	probably damaging	Het
Pld5	A	T	1: 175,917,522 (GRCm39)	M75K	possibly damaging	Het
Pmp22	T	A	11: 63,041,929 (GRCm39)		probably benign	Het
Polr2a	A	G	11: 69,631,845 (GRCm39)	S1074P	possibly damaging	Het
Pop1	T	A	15: 34,526,352 (GRCm39)	V649E	possibly damaging	Het
Prc1	A	G	7: 79,962,850 (GRCm39)	N548S	probably damaging	Het
Prss51	T	C	14: 64,334,588 (GRCm39)	L202P	probably damaging	Het
Rhpn1	T	C	15: 75,585,428 (GRCm39)	S576P	possibly damaging	Het
Rictor	A	G	15: 6,738,123 (GRCm39)	D20G	probably benign	Het
Rpl13a-ps1	A	T	19: 50,018,645 (GRCm39)	L177*	probably null	Het
Rpl23a-ps1	T	G	1: 46,021,087 (GRCm39)		noncoding transcript	Het
Saa2	A	G	7: 46,402,902 (GRCm39)	D51G	probably damaging	Het
Sec31a	A	T	5: 100,551,977 (GRCm39)		probably benign	Het
Secisbp2	G	A	13: 51,837,361 (GRCm39)	E841K	possibly damaging	Het
Serinc1	A	G	10: 57,393,306 (GRCm39)	Y437H	probably damaging	Het
Slc39a12	A	T	2: 14,440,492 (GRCm39)	H481L	probably benign	Het
Suz12	T	A	11: 79,920,859 (GRCm39)	N586K	probably damaging	Het
Synm	T	C	7: 67,386,630 (GRCm39)	Y344C	possibly damaging	Het
Tas2r104	A	G	6: 131,662,304 (GRCm39)	V135A	probably benign	Het
Tdrd9	T	C	12: 112,034,673 (GRCm39)	S1371P	probably benign	Het
Tg	T	A	15: 66,700,382 (GRCm39)	D893E	probably benign	Het
Thoc5	C	A	11: 4,868,217 (GRCm39)	D423E	possibly damaging	Het
Trim11	G	A	11: 58,881,361 (GRCm39)	R418H	probably damaging	Het
Trim52	T	G	14: 106,344,399 (GRCm39)	V19G	probably damaging	Het
Tuba4a	C	A	1: 75,192,502 (GRCm39)	V371L	probably damaging	Het
Ugt8a	A	G	3: 125,708,606 (GRCm39)	V168A	probably benign	Het
Ulk1	C	T	5: 110,938,951 (GRCm39)	G496R	probably damaging	Het
Usp40	A	G	1: 87,874,320 (GRCm39)	*1236Q	probably null	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r24	A	G	6: 123,757,350 (GRCm39)		probably null	Het
Vmn2r53	A	G	7: 12,316,338 (GRCm39)	Y494H	probably damaging	Het
Vmn2r65	T	A	7: 84,595,442 (GRCm39)	D414V	probably benign	Het
Wdr26	A	T	1: 181,010,444 (GRCm39)	L519*	probably null	Het
Wnk1	A	G	6: 119,940,112 (GRCm39)	V173A	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp318	T	C	17: 46,707,634 (GRCm39)	S231P	probably damaging	Het
Zfp398	T	C	6: 47,842,782 (GRCm39)	V146A	probably benign	Het
Zfp410	T	C	12: 84,378,486 (GRCm39)	M270T	probably damaging	Het
Zfp445	A	T	9: 122,682,578 (GRCm39)	H454Q	possibly 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
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'- TCTAAGAACCCCGTGACTCATCTCC -3'
(R):5'- ATCACTGCATTTGCCCCACAGG -3'

Sequencing Primer
(F):5'- ATCCTCCTGCCTGCACATTAC -3'
(R):5'- ATTTGCCCCACAGGTTCGG -3'

Posted On

2013-05-23