Mutagenetix > Incidental Mutation

Incidental Mutation 'R7447:Esyt3'

577361

Institutional Source

Beutler Lab

Gene Symbol

Esyt3

Ensembl Gene

ENSMUSG00000037681

Gene Name

extended synaptotagmin-like protein 3

Synonyms

D9Ertd280e, Fam62c

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7447 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99192016-99240610 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99203615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 450 (L450F)

Ref Sequence

ENSEMBL: ENSMUSP00000038757 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042158] [ENSMUST00000187520]

AlphaFold

Q5DTI8

Predicted Effect

probably damaging
Transcript: ENSMUST00000042158
AA Change: L450F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038757
Gene: ENSMUSG00000037681
AA Change: L450F

Domain	Start	End	E-Value	Type
transmembrane domain	54	76	N/A	INTRINSIC
Pfam:SMP_LBD	118	295	3.7e-63	PFAM
C2	311	411	9.23e-20	SMART
low complexity region	422	432	N/A	INTRINSIC
C2	449	563	6.6e-7	SMART
low complexity region	658	673	N/A	INTRINSIC
low complexity region	729	739	N/A	INTRINSIC
C2	775	880	4.91e-15	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000187520
AA Change: L122F

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

SMART Domains

Protein: ENSMUSP00000140567
Gene: ENSMUSG00000037681
AA Change: L122F

Domain	Start	End	E-Value	Type
C2	2	83	5.9e-12	SMART
low complexity region	94	104	N/A	INTRINSIC
C2	121	198	2.2e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice are viable and fertile without overt morphological defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	A	T	15: 76,479,396 (GRCm39)	I484F	possibly damaging	Het
Ago2	A	T	15: 73,009,881 (GRCm39)	N100K	probably benign	Het
Appl1	T	A	14: 26,681,409 (GRCm39)	K130*	probably null	Het
Arhgap39	G	A	15: 76,649,797 (GRCm39)		probably benign	Het
Axdnd1	A	G	1: 156,245,802 (GRCm39)		probably null	Het
Camta1	A	T	4: 151,168,327 (GRCm39)	V1332E	probably benign	Het
Cd3g	A	G	9: 44,884,857 (GRCm39)	L129P	probably damaging	Het
Cd80	T	G	16: 38,294,251 (GRCm39)	S45A	probably benign	Het
Cdk12	A	T	11: 98,136,106 (GRCm39)	Q1120L	unknown	Het
Clip1	G	A	5: 123,791,696 (GRCm39)	S158F	probably benign	Het
Cntn3	C	A	6: 102,255,416 (GRCm39)	E161*	probably null	Het
Cyp3a59	A	C	5: 146,024,215 (GRCm39)	K67T	probably benign	Het
Dmxl1	T	C	18: 49,997,681 (GRCm39)	L623P	probably damaging	Het
Drd3	T	A	16: 43,637,426 (GRCm39)	Y208*	probably null	Het
Dusp10	A	T	1: 183,801,153 (GRCm39)	M307L	probably benign	Het
Dync2li1	A	T	17: 84,955,141 (GRCm39)	I267L	possibly damaging	Het
Dynlt2b	T	A	16: 32,244,089 (GRCm39)	V95E	probably damaging	Het
Edn3	C	A	2: 174,603,544 (GRCm39)	C97*	probably null	Het
Ehbp1l1	T	A	19: 5,769,456 (GRCm39)	T616S	possibly damaging	Het
Eif2a	C	T	3: 58,452,963 (GRCm39)	T246I	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Errfi1	A	G	4: 150,951,108 (GRCm39)	T179A	probably damaging	Het
Evx2	A	G	2: 74,489,448 (GRCm39)	S106P	probably benign	Het
Fam83a	T	G	15: 57,873,086 (GRCm39)	V305G	probably benign	Het
Fem1al	T	C	11: 29,774,122 (GRCm39)	D445G	probably benign	Het
Gpr171	T	A	3: 59,005,860 (GRCm39)		probably null	Het
Grip1	A	G	10: 119,922,871 (GRCm39)	T1106A	probably benign	Het
Hecw1	A	G	13: 14,531,789 (GRCm39)	Y162H	probably damaging	Het
Hephl1	C	T	9: 15,009,178 (GRCm39)		probably null	Het
Hsp90aa1	A	G	12: 110,658,562 (GRCm39)	I693T	possibly damaging	Het
Ifit1bl2	T	A	19: 34,596,974 (GRCm39)	D214V	probably damaging	Het
Igsf10	T	C	3: 59,239,222 (GRCm39)	M320V	probably benign	Het
Kcnq2	A	G	2: 180,754,887 (GRCm39)	L220P	probably damaging	Het
Kpna1	C	A	16: 35,850,009 (GRCm39)	Q372K	probably damaging	Het
Lilrb4a	T	G	10: 51,367,149 (GRCm39)		probably null	Het
Ly75	C	A	2: 60,164,818 (GRCm39)	E787*	probably null	Het
Magi1	T	G	6: 93,722,562 (GRCm39)	S666R	possibly damaging	Het
Mif	C	A	10: 75,695,687 (GRCm39)	A39S	possibly damaging	Het
Mob4	G	A	1: 55,170,625 (GRCm39)		probably benign	Het
Mtmr4	G	T	11: 87,502,727 (GRCm39)	C927F	probably damaging	Het
Myh1	A	G	11: 67,110,006 (GRCm39)	K1398R	probably benign	Het
Myo3a	T	C	2: 22,436,464 (GRCm39)	V873A	probably benign	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Nckap5l	G	A	15: 99,325,357 (GRCm39)	P382L	probably damaging	Het
Ngly1	T	C	14: 16,290,844 (GRCm38)	I442T	probably damaging	Het
Nhsl3	C	A	4: 129,115,835 (GRCm39)	R988L	possibly damaging	Het
Nlrp1a	T	C	11: 70,983,237 (GRCm39)	Y1243C	probably damaging	Het
Or8k53	T	A	2: 86,177,150 (GRCm39)	H320L	possibly damaging	Het
Pcsk5	C	T	19: 17,487,600 (GRCm39)	G1027D	probably benign	Het
Pla2g2c	T	A	4: 138,458,927 (GRCm39)	I11N	probably benign	Het
Polr3d	A	G	14: 70,677,240 (GRCm39)	I331T	probably damaging	Het
Ppp4r4	A	G	12: 103,551,985 (GRCm39)	I293M	possibly damaging	Het
Prkce	G	T	17: 86,866,687 (GRCm39)	V516F	probably damaging	Het
Prss27	T	A	17: 24,264,683 (GRCm39)	L282Q	probably damaging	Het
Pxdn	A	G	12: 30,034,926 (GRCm39)	Y261C	probably damaging	Het
R3hcc1l	T	C	19: 42,551,101 (GRCm39)	S33P	probably benign	Het
Rab11fip3	G	C	17: 26,287,848 (GRCm39)	R102G	possibly damaging	Het
Rabggta	A	T	14: 55,956,773 (GRCm39)	N310K	probably null	Het
Rbbp8	T	A	18: 11,793,934 (GRCm39)	D15E	probably benign	Het
Rbm5	T	C	9: 107,623,378 (GRCm39)	Y486C	probably damaging	Het
Rptor	T	A	11: 119,775,805 (GRCm39)	F992Y	probably benign	Het
Slc29a2	T	G	19: 5,076,445 (GRCm39)	L111R	probably damaging	Het
Slc39a11	T	A	11: 113,452,849 (GRCm39)	I31L	probably benign	Het
Slc6a20a	T	A	9: 123,485,289 (GRCm39)	N311I	possibly damaging	Het
Slc8a1	A	G	17: 81,956,435 (GRCm39)	F201S	probably damaging	Het
Smtn	C	A	11: 3,480,196 (GRCm39)	V342L	probably benign	Het
Syne2	A	G	12: 76,074,853 (GRCm39)	T4598A	probably benign	Het
Tchp	A	G	5: 114,853,716 (GRCm39)	T267A	probably benign	Het
Tes3-ps	A	G	13: 49,647,508 (GRCm39)	E128G	possibly damaging	Het
Tigar	C	T	6: 127,065,129 (GRCm39)	G173E	probably benign	Het
Tmem171	T	C	13: 98,824,862 (GRCm39)	N256S	probably benign	Het
Tmem204	A	G	17: 25,277,270 (GRCm39)	I205T	probably damaging	Het
Tmem63a	A	G	1: 180,785,588 (GRCm39)	K240R	probably benign	Het
Tns2	C	T	15: 102,019,351 (GRCm39)	T446M	probably damaging	Het
Tnxb	A	T	17: 34,937,444 (GRCm39)	N2931I	probably damaging	Het
Trrap	G	T	5: 144,776,284 (GRCm39)	R2941L	probably damaging	Het
Ttc8	A	T	12: 98,910,131 (GRCm39)	R179S	probably damaging	Het
Ttll12	G	T	15: 83,471,176 (GRCm39)	T234N	probably damaging	Het
Ttn	G	T	2: 76,577,576 (GRCm39)	T24439K	probably damaging	Het
Ube2z	A	T	11: 95,946,736 (GRCm39)	I246N	possibly damaging	Het
Usp15	A	G	10: 123,011,786 (GRCm39)	Y104H	probably damaging	Het
Usp29	A	C	7: 6,964,219 (GRCm39)	T21P	possibly damaging	Het
Usp5	G	A	6: 124,798,077 (GRCm39)	A436V	probably damaging	Het
Utp20	A	G	10: 88,608,354 (GRCm39)	L1561S	probably damaging	Het
Xrn1	A	G	9: 95,927,547 (GRCm39)	M1444V	probably benign	Het
Zfp236	G	T	18: 82,651,815 (GRCm39)	Q885K	probably damaging	Het
Zfp831	C	A	2: 174,487,896 (GRCm39)	P857Q	possibly damaging	Het

Other mutations in Esyt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02576:Esyt3	APN	9	99,197,278 (GRCm39)	missense	probably benign	0.07
IGL02596:Esyt3	APN	9	99,210,068 (GRCm39)	missense	probably benign	0.02
IGL02716:Esyt3	APN	9	99,199,277 (GRCm39)	missense	probably damaging	1.00
IGL02836:Esyt3	APN	9	99,202,960 (GRCm39)	splice site	probably benign
IGL03372:Esyt3	APN	9	99,218,109 (GRCm39)	splice site	probably benign
R0008:Esyt3	UTSW	9	99,220,860 (GRCm39)	missense	possibly damaging	0.89
R1217:Esyt3	UTSW	9	99,200,097 (GRCm39)	missense	possibly damaging	0.92
R1395:Esyt3	UTSW	9	99,198,835 (GRCm39)	unclassified	probably benign
R1478:Esyt3	UTSW	9	99,200,119 (GRCm39)	missense	probably benign	0.03
R1710:Esyt3	UTSW	9	99,218,244 (GRCm39)	missense	probably benign
R1792:Esyt3	UTSW	9	99,240,169 (GRCm39)	nonsense	probably null
R1913:Esyt3	UTSW	9	99,202,364 (GRCm39)	missense	probably benign	0.00
R3792:Esyt3	UTSW	9	99,197,334 (GRCm39)	missense	possibly damaging	0.93
R3793:Esyt3	UTSW	9	99,197,334 (GRCm39)	missense	possibly damaging	0.93
R3937:Esyt3	UTSW	9	99,218,245 (GRCm39)	missense	probably benign
R3964:Esyt3	UTSW	9	99,202,375 (GRCm39)	missense	probably damaging	1.00
R3965:Esyt3	UTSW	9	99,202,375 (GRCm39)	missense	probably damaging	1.00
R4061:Esyt3	UTSW	9	99,202,891 (GRCm39)	missense	probably damaging	1.00
R4088:Esyt3	UTSW	9	99,206,290 (GRCm39)	missense	probably benign
R4436:Esyt3	UTSW	9	99,240,078 (GRCm39)	intron	probably benign
R5274:Esyt3	UTSW	9	99,200,350 (GRCm39)	missense	probably benign
R5590:Esyt3	UTSW	9	99,240,466 (GRCm39)	utr 5 prime	probably benign
R5705:Esyt3	UTSW	9	99,200,260 (GRCm39)	missense	probably benign	0.00
R6543:Esyt3	UTSW	9	99,220,825 (GRCm39)	missense	possibly damaging	0.77
R6738:Esyt3	UTSW	9	99,202,346 (GRCm39)	missense	probably damaging	0.98
R7000:Esyt3	UTSW	9	99,204,206 (GRCm39)	missense	probably damaging	0.99
R7019:Esyt3	UTSW	9	99,197,338 (GRCm39)	missense	probably benign	0.11
R7104:Esyt3	UTSW	9	99,220,840 (GRCm39)	missense	probably damaging	1.00
R7130:Esyt3	UTSW	9	99,200,223 (GRCm39)	missense	probably benign
R7141:Esyt3	UTSW	9	99,203,493 (GRCm39)	missense	probably benign	0.12
R7145:Esyt3	UTSW	9	99,201,627 (GRCm39)	missense	probably damaging	1.00
R7459:Esyt3	UTSW	9	99,240,117 (GRCm39)	missense	probably benign	0.00
R7767:Esyt3	UTSW	9	99,207,024 (GRCm39)	missense	probably benign	0.00
R8397:Esyt3	UTSW	9	99,209,966 (GRCm39)	missense	probably benign	0.01
R8560:Esyt3	UTSW	9	99,202,375 (GRCm39)	missense	probably damaging	1.00
R8882:Esyt3	UTSW	9	99,202,909 (GRCm39)	missense	probably damaging	0.99
R9320:Esyt3	UTSW	9	99,194,044 (GRCm39)	missense	probably damaging	1.00
R9537:Esyt3	UTSW	9	99,199,292 (GRCm39)	missense	probably damaging	0.98
R9786:Esyt3	UTSW	9	99,194,038 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- AGGCTACAGTCACTTCAGAGAAAG -3'
(R):5'- GAACCTATCCTGCTGCAGATGTG -3'

Sequencing Primer
(F):5'- CACTTACTTTGACAAACCTGGAGAG -3'
(R):5'- GTGTTCTCGGACAATATAAAGCTGG -3'

Posted On

2019-10-07