Mutagenetix > Incidental Mutation

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

Essential gene?

Possibly non essential (E-score: 0.285) question?

Stock #

R5161 (G1)

Quality Score

156

Status

Validated

Chromosome

Chromosomal Location

44033526-44049611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 44045439 bp (GRCm39)

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: 64,055,344 (GRCm39)	E27*	probably null	Het
4930407I10Rik	G	T	15: 81,947,542 (GRCm39)	E480*	probably null	Het
Acad11	T	C	9: 104,001,227 (GRCm39)	I591T	probably benign	Het
Acsbg3	A	T	17: 57,189,888 (GRCm39)	I305F	possibly damaging	Het
Adamts13	G	A	2: 26,883,020 (GRCm39)	E857K	probably benign	Het
Atf2	A	C	2: 73,660,134 (GRCm39)		probably null	Het
Cass4	C	A	2: 172,274,244 (GRCm39)	A675E	probably damaging	Het
Coa8	C	A	12: 111,689,208 (GRCm39)	Q97K	possibly damaging	Het
Ctsd	A	T	7: 141,930,881 (GRCm39)	L283Q	probably damaging	Het
Ddrgk1	A	T	2: 130,505,296 (GRCm39)	M1K	probably null	Het
Dipk1b	C	T	2: 26,526,260 (GRCm39)	T398M	possibly damaging	Het
Dock1	G	A	7: 134,335,791 (GRCm39)	A62T	possibly damaging	Het
Ehmt1	T	C	2: 24,748,207 (GRCm39)	D407G	possibly damaging	Het
Eif1ad17	T	A	12: 87,978,887 (GRCm39)	D90E	possibly damaging	Het
Eml6	A	G	11: 29,974,467 (GRCm39)	V37A	probably damaging	Het
Fam20a	C	T	11: 109,564,196 (GRCm39)	R519Q	probably benign	Het
Fat1	A	G	8: 45,405,549 (GRCm39)	T767A	probably benign	Het
Fbxl8	A	T	8: 105,995,538 (GRCm39)	H350L	possibly damaging	Het
Gm10226	A	C	17: 21,910,834 (GRCm39)	Q23P	possibly damaging	Het
Gm38706	A	T	6: 130,459,868 (GRCm39)		noncoding transcript	Het
Gpatch2l	G	T	12: 86,313,950 (GRCm39)	R362L	probably benign	Het
Hyal5	A	T	6: 24,891,602 (GRCm39)	D472V	probably benign	Het
Ighv5-9-1	T	C	12: 113,699,777 (GRCm39)	S102G	possibly damaging	Het
Itpripl1	A	C	2: 126,983,777 (GRCm39)	L115R	probably damaging	Het
Itsn1	G	A	16: 91,705,726 (GRCm39)	C169Y	possibly damaging	Het
Krt88	T	A	15: 101,348,349 (GRCm39)	C12S	probably benign	Het
Macroh2a1	T	C	13: 56,237,594 (GRCm39)	D222G	probably benign	Het
Muc4	G	A	16: 32,582,895 (GRCm39)	V2557M	probably damaging	Het
Myh7b	G	C	2: 155,474,293 (GRCm39)	R1669S	possibly damaging	Het
Nbeal2	G	T	9: 110,458,936 (GRCm39)	Q1996K	probably benign	Het
Obscn	T	C	11: 58,919,430 (GRCm39)	E6205G	probably damaging	Het
Obscn	A	G	11: 58,955,136 (GRCm39)	Y3926H	possibly damaging	Het
Or14a259	T	C	7: 86,013,546 (GRCm39)		probably null	Het
Or5an10	A	T	19: 12,276,153 (GRCm39)	S114R	probably damaging	Het
P2ry2	A	T	7: 100,648,136 (GRCm39)	Y56*	probably null	Het
Pate10	T	A	9: 35,652,884 (GRCm39)	L42*	probably null	Het
Pde1a	T	C	2: 79,708,488 (GRCm39)	N242S	probably null	Het
Pik3cg	C	T	12: 32,254,977 (GRCm39)	E337K	possibly damaging	Het
Plxna2	A	G	1: 194,433,712 (GRCm39)	N587S	probably benign	Het
Pmpca	T	C	2: 26,285,183 (GRCm39)		probably null	Het
Ptpn4	C	T	1: 119,635,593 (GRCm39)	W370*	probably null	Het
Qki	A	T	17: 10,434,419 (GRCm39)		probably null	Het
Rapgef3	A	G	15: 97,655,606 (GRCm39)	V427A	probably damaging	Het
Rbbp8	T	G	18: 11,855,171 (GRCm39)	D465E	probably damaging	Het
Scn2a	A	G	2: 65,594,935 (GRCm39)	K1928R	probably benign	Het
Slc5a5	A	C	8: 71,341,492 (GRCm39)	C346G	probably damaging	Het
Spata2l	A	G	8: 123,962,288 (GRCm39)	L91P	probably damaging	Het
Timm23	G	A	14: 31,915,882 (GRCm39)	P63L	probably damaging	Het
Tmem191	T	C	16: 17,094,743 (GRCm39)	S108P	possibly damaging	Het
Ttc21b	A	G	2: 66,059,367 (GRCm39)	C545R	probably damaging	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Usp17ld	A	T	7: 102,899,579 (GRCm39)	L451*	probably null	Het
Vmn1r15	T	C	6: 57,235,497 (GRCm39)	Y122H	probably benign	Het
Vxn	G	T	1: 9,692,902 (GRCm39)	G145*	probably null	Het
Zfp1002	A	T	2: 150,097,135 (GRCm39)	I98K	probably damaging	Het

Other mutations in Syt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01487:Syt3	APN	7	44,040,423 (GRCm39)	missense	possibly damaging	0.95
IGL02738:Syt3	APN	7	44,035,447 (GRCm39)	missense	possibly damaging	0.53
IGL02751:Syt3	APN	7	44,035,486 (GRCm39)	missense	possibly damaging	0.60
R0129:Syt3	UTSW	7	44,042,782 (GRCm39)	missense	probably damaging	1.00
R0749:Syt3	UTSW	7	44,048,571 (GRCm39)	missense	probably benign	0.41
R1022:Syt3	UTSW	7	44,040,106 (GRCm39)	missense	probably damaging	0.99
R1024:Syt3	UTSW	7	44,040,106 (GRCm39)	missense	probably damaging	0.99
R1204:Syt3	UTSW	7	44,042,091 (GRCm39)	missense	probably damaging	1.00
R1462:Syt3	UTSW	7	44,045,434 (GRCm39)	missense	probably damaging	1.00
R1462:Syt3	UTSW	7	44,045,434 (GRCm39)	missense	probably damaging	1.00
R1902:Syt3	UTSW	7	44,039,940 (GRCm39)	missense	possibly damaging	0.92
R2848:Syt3	UTSW	7	44,042,866 (GRCm39)	missense	probably benign	0.43
R2849:Syt3	UTSW	7	44,042,866 (GRCm39)	missense	probably benign	0.43
R2924:Syt3	UTSW	7	44,045,222 (GRCm39)	missense	probably damaging	1.00
R2925:Syt3	UTSW	7	44,045,222 (GRCm39)	missense	probably damaging	1.00
R4560:Syt3	UTSW	7	44,045,368 (GRCm39)	missense	probably benign	0.13
R5430:Syt3	UTSW	7	44,040,337 (GRCm39)	missense	possibly damaging	0.63
R5570:Syt3	UTSW	7	44,040,043 (GRCm39)	missense	possibly damaging	0.92
R5572:Syt3	UTSW	7	44,040,142 (GRCm39)	missense	probably benign	0.07
R5975:Syt3	UTSW	7	44,042,187 (GRCm39)	nonsense	probably null
R6370:Syt3	UTSW	7	44,045,107 (GRCm39)	missense	probably damaging	1.00
R7291:Syt3	UTSW	7	44,045,343 (GRCm39)	missense	probably damaging	1.00
R7319:Syt3	UTSW	7	44,041,953 (GRCm39)	nonsense	probably null
R7382:Syt3	UTSW	7	44,042,170 (GRCm39)	missense	probably damaging	1.00
R7579:Syt3	UTSW	7	44,040,272 (GRCm39)	nonsense	probably null
R7705:Syt3	UTSW	7	44,042,083 (GRCm39)	missense	possibly damaging	0.95
R7743:Syt3	UTSW	7	44,042,091 (GRCm39)	missense	probably damaging	1.00
R8122:Syt3	UTSW	7	44,045,153 (GRCm39)	missense	probably damaging	1.00
R9134:Syt3	UTSW	7	44,042,791 (GRCm39)	missense	possibly damaging	0.62
R9705:Syt3	UTSW	7	44,045,225 (GRCm39)	missense	probably damaging	1.00
Z1177:Syt3	UTSW	7	44,045,071 (GRCm39)	missense	probably damaging	0.99
Z1177:Syt3	UTSW	7	44,040,097 (GRCm39)	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