Mutagenetix > Incidental Mutations

Incidental Mutation 'R5161:Syt3'

396992

Institutional Source

Beutler Lab

Gene Symbol

Syt3

Ensembl Gene

ENSMUSG00000030731

Gene Name

synaptotagmin III

Synonyms

MMRRC Submission

042743-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R5161 (G1)

Quality Score

156

Status

Validated

Chromosome

Chromosomal Location

44384102-44400187 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 44396015 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 560 (H560N)

Ref Sequence

ENSEMBL: ENSMUSP00000112968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118831] [ENSMUST00000118962] [ENSMUST00000120262]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118831
AA Change: H560N

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112432
Gene: ENSMUSG00000030731
AA Change: H560N

Domain	Start	End	E-Value	Type
transmembrane domain	52	74	N/A	INTRINSIC
low complexity region	101	142	N/A	INTRINSIC
low complexity region	145	161	N/A	INTRINSIC
low complexity region	171	181	N/A	INTRINSIC
low complexity region	187	212	N/A	INTRINSIC
low complexity region	229	244	N/A	INTRINSIC
low complexity region	252	260	N/A	INTRINSIC
low complexity region	279	298	N/A	INTRINSIC
C2	312	415	1.89e-25	SMART
C2	444	559	3.42e-23	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118962
AA Change: H560N

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114070
Gene: ENSMUSG00000030731
AA Change: H560N

Domain	Start	End	E-Value	Type
transmembrane domain	52	74	N/A	INTRINSIC
low complexity region	101	142	N/A	INTRINSIC
low complexity region	145	161	N/A	INTRINSIC
low complexity region	171	181	N/A	INTRINSIC
low complexity region	187	212	N/A	INTRINSIC
low complexity region	229	244	N/A	INTRINSIC
low complexity region	252	260	N/A	INTRINSIC
low complexity region	279	298	N/A	INTRINSIC
C2	312	415	1.89e-25	SMART
C2	444	559	3.42e-23	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120262
AA Change: H560N

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112968
Gene: ENSMUSG00000030731
AA Change: H560N

Domain	Start	End	E-Value	Type
transmembrane domain	52	74	N/A	INTRINSIC
low complexity region	101	142	N/A	INTRINSIC
low complexity region	145	161	N/A	INTRINSIC
low complexity region	171	181	N/A	INTRINSIC
low complexity region	187	212	N/A	INTRINSIC
low complexity region	229	244	N/A	INTRINSIC
low complexity region	252	260	N/A	INTRINSIC
low complexity region	279	298	N/A	INTRINSIC
C2	312	415	1.89e-25	SMART
C2	444	559	3.42e-23	SMART

Meta Mutation Damage Score

0.1064

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,001	E27*	probably null	Het
1700061G19Rik	A	T	17: 56,882,888	I305F	possibly damaging	Het
3110035E14Rik	G	T	1: 9,622,677	G145*	probably null	Het
4930407I10Rik	G	T	15: 82,063,341	E480*	probably null	Het
Acad11	T	C	9: 104,124,028	I591T	probably benign	Het
Adamts13	G	A	2: 26,993,008	E857K	probably benign	Het
Apopt1	C	A	12: 111,722,774	Q97K	possibly damaging	Het
Atf2	A	C	2: 73,829,790		probably null	Het
Cass4	C	A	2: 172,432,324	A675E	probably damaging	Het
Ctsd	A	T	7: 142,377,144	L283Q	probably damaging	Het
Ddrgk1	A	T	2: 130,663,376	M1K	probably null	Het
Dock1	G	A	7: 134,734,062	A62T	possibly damaging	Het
Ehmt1	T	C	2: 24,858,195	D407G	possibly damaging	Het
Eml6	A	G	11: 30,024,467	V37A	probably damaging	Het
Fam20a	C	T	11: 109,673,370	R519Q	probably benign	Het
Fam69b	C	T	2: 26,636,248	T398M	possibly damaging	Het
Fat1	A	G	8: 44,952,512	T767A	probably benign	Het
Fbxl8	A	T	8: 105,268,906	H350L	possibly damaging	Het
Gm10226	A	C	17: 21,691,927	Q23P	possibly damaging	Het
Gm17677	T	A	9: 35,741,588	L42*	probably null	Het
Gm2075	T	A	12: 88,012,117	D90E	possibly damaging	Het
Gm21994	A	T	2: 150,255,215	I98K	probably damaging	Het
Gm38706	A	T	6: 130,482,905		noncoding transcript	Het
Gpatch2l	G	T	12: 86,267,176	R362L	probably benign	Het
H2afy	T	C	13: 56,089,781	D222G	probably benign	Het
Hyal5	A	T	6: 24,891,603	D472V	probably benign	Het
Ighv5-9-1	T	C	12: 113,736,157	S102G	possibly damaging	Het
Itpripl1	A	C	2: 127,141,857	L115R	probably damaging	Het
Itsn1	G	A	16: 91,908,838	C169Y	possibly damaging	Het
Krt88	T	A	15: 101,450,468	C12S	probably benign	Het
Muc4	G	A	16: 32,762,521	V2557M	probably damaging	Het
Myh7b	G	C	2: 155,632,373	R1669S	possibly damaging	Het
Nbeal2	G	T	9: 110,629,868	Q1996K	probably benign	Het
Obscn	T	C	11: 59,028,604	E6205G	probably damaging	Het
Obscn	A	G	11: 59,064,310	Y3926H	possibly damaging	Het
Olfr1436	A	T	19: 12,298,789	S114R	probably damaging	Het
Olfr305	T	C	7: 86,364,338		probably null	Het
P2ry2	A	T	7: 100,998,929	Y56*	probably null	Het
Pde1a	T	C	2: 79,878,144	N242S	probably null	Het
Pik3cg	C	T	12: 32,204,978	E337K	possibly damaging	Het
Plxna2	A	G	1: 194,751,404	N587S	probably benign	Het
Pmpca	T	C	2: 26,395,171		probably null	Het
Ptpn4	C	T	1: 119,707,863	W370*	probably null	Het
Qk	A	T	17: 10,215,490		probably null	Het
Rapgef3	A	G	15: 97,757,725	V427A	probably damaging	Het
Rbbp8	T	G	18: 11,722,114	D465E	probably damaging	Het
Scn2a	A	G	2: 65,764,591	K1928R	probably benign	Het
Slc5a5	A	C	8: 70,888,848	C346G	probably damaging	Het
Spata2l	A	G	8: 123,235,549	L91P	probably damaging	Het
Timm23	G	A	14: 32,193,925	P63L	probably damaging	Het
Tmem191c	T	C	16: 17,276,879	S108P	possibly damaging	Het
Ttc21b	A	G	2: 66,229,023	C545R	probably damaging	Het
Ttc23l	G	T	15: 10,551,550	T30K	possibly damaging	Het
Usp17ld	A	T	7: 103,250,372	L451*	probably null	Het
Vmn1r15	T	C	6: 57,258,512	Y122H	probably benign	Het

Other mutations in Syt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01487:Syt3	APN	7	44390999	missense	possibly damaging	0.95
IGL02738:Syt3	APN	7	44386023	missense	possibly damaging	0.53
IGL02751:Syt3	APN	7	44386062	missense	possibly damaging	0.60
R0129:Syt3	UTSW	7	44393358	missense	probably damaging	1.00
R0749:Syt3	UTSW	7	44399147	missense	probably benign	0.41
R1022:Syt3	UTSW	7	44390682	missense	probably damaging	0.99
R1024:Syt3	UTSW	7	44390682	missense	probably damaging	0.99
R1204:Syt3	UTSW	7	44392667	missense	probably damaging	1.00
R1462:Syt3	UTSW	7	44396010	missense	probably damaging	1.00
R1462:Syt3	UTSW	7	44396010	missense	probably damaging	1.00
R1902:Syt3	UTSW	7	44390516	missense	possibly damaging	0.92
R2848:Syt3	UTSW	7	44393442	missense	probably benign	0.43
R2849:Syt3	UTSW	7	44393442	missense	probably benign	0.43
R2924:Syt3	UTSW	7	44395798	missense	probably damaging	1.00
R2925:Syt3	UTSW	7	44395798	missense	probably damaging	1.00
R4560:Syt3	UTSW	7	44395944	missense	probably benign	0.13
R5430:Syt3	UTSW	7	44390913	missense	possibly damaging	0.63
R5570:Syt3	UTSW	7	44390619	missense	possibly damaging	0.92
R5572:Syt3	UTSW	7	44390718	missense	probably benign	0.07
R5975:Syt3	UTSW	7	44392763	nonsense	probably null
R6370:Syt3	UTSW	7	44395683	missense	probably damaging	1.00
R7291:Syt3	UTSW	7	44395919	missense	probably damaging	1.00
R7319:Syt3	UTSW	7	44392529	nonsense	probably null
R7382:Syt3	UTSW	7	44392746	missense	probably damaging	1.00
R7579:Syt3	UTSW	7	44390848	nonsense	probably null
R7705:Syt3	UTSW	7	44392659	missense	possibly damaging	0.95
R7743:Syt3	UTSW	7	44392667	missense	probably damaging	1.00
R8122:Syt3	UTSW	7	44395729	missense	probably damaging	1.00
R9134:Syt3	UTSW	7	44393367	missense	possibly damaging	0.62
Z1177:Syt3	UTSW	7	44390673	missense	probably damaging	0.99
Z1177:Syt3	UTSW	7	44395647	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCAGCATCGCAGTGGTAGAC -3'
(R):5'- ATGGCTGCTAGTCACAGGATG -3'

Sequencing Primer
(F):5'- CATCGCAGTGGTAGACTATGACTG -3'
(R):5'- CTGCTAGTCACAGGATGAAGAACC -3'

Posted On

2016-06-21