Mutagenetix > Incidental Mutation

Incidental Mutation 'R5572:Syt3'

435731

Institutional Source

Beutler Lab

Gene Symbol

Syt3

Ensembl Gene

ENSMUSG00000030731

Gene Name

synaptotagmin III

Synonyms

MMRRC Submission

043266-MU

Accession Numbers

Essential gene?

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

Stock #

R5572 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44033526-44049611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44040142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 125 (H125R)

Ref Sequence

ENSEMBL: ENSMUSP00000112968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118831] [ENSMUST00000118962] [ENSMUST00000120262] [ENSMUST00000130707] [ENSMUST00000130844]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000118831
AA Change: H125R

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112432
Gene: ENSMUSG00000030731
AA Change: H125R

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

probably benign
Transcript: ENSMUST00000118962
AA Change: H125R

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000114070
Gene: ENSMUSG00000030731
AA Change: H125R

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

probably benign
Transcript: ENSMUST00000120262
AA Change: H125R

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112968
Gene: ENSMUSG00000030731
AA Change: H125R

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

probably benign
Transcript: ENSMUST00000130707

Predicted Effect

probably benign
Transcript: ENSMUST00000130844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206723

Meta Mutation Damage Score

0.1356

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	C	T	5: 8,765,108 (GRCm39)		probably null	Het
Abcd4	T	C	12: 84,653,050 (GRCm39)	D380G	probably benign	Het
Actr3b	T	A	5: 26,014,886 (GRCm39)	D68E	probably benign	Het
Apol10a	T	C	15: 77,372,834 (GRCm39)	S157P	probably damaging	Het
Arap3	A	T	18: 38,124,119 (GRCm39)	I327N	probably damaging	Het
Arnt	G	T	3: 95,382,015 (GRCm39)	V198L	possibly damaging	Het
Baiap3	T	A	17: 25,470,449 (GRCm39)	D86V	possibly damaging	Het
Bcl9l	G	T	9: 44,412,095 (GRCm39)	R27L	possibly damaging	Het
Bltp2	A	T	11: 78,155,393 (GRCm39)	D167V	probably damaging	Het
C1qc	T	C	4: 136,619,773 (GRCm39)	Y34C	probably benign	Het
C1rb	T	C	6: 124,557,758 (GRCm39)	S632P	probably benign	Het
C3	A	G	17: 57,531,673 (GRCm39)	S284P	probably damaging	Het
Cfap44	T	G	16: 44,301,668 (GRCm39)	V1802G	possibly damaging	Het
Cfhr1	A	G	1: 139,484,165 (GRCm39)	V117A	possibly damaging	Het
Clca3b	T	C	3: 144,533,070 (GRCm39)	D654G	probably damaging	Het
Col17a1	A	T	19: 47,639,168 (GRCm39)	S1126T	probably benign	Het
Cts3	T	A	13: 61,712,782 (GRCm39)	I313F	probably damaging	Het
Egfl7	T	C	2: 26,481,703 (GRCm39)	V6A	possibly damaging	Het
Eif2s3y	G	A	Y: 1,016,631 (GRCm39)	D272N	probably damaging	Het
Foxp4	A	G	17: 48,191,804 (GRCm39)	V111A	unknown	Het
Hmcn2	A	T	2: 31,304,537 (GRCm39)		probably null	Het
Hmcn2	G	A	2: 31,304,538 (GRCm39)		probably null	Het
Igsf11	C	T	16: 38,845,294 (GRCm39)	R283C	probably damaging	Het
Il1a	A	G	2: 129,149,838 (GRCm39)	Y21H	possibly damaging	Het
Il6ra	A	T	3: 89,778,589 (GRCm39)	V420D	probably damaging	Het
Kdm5a	T	C	6: 120,389,336 (GRCm39)	V921A	possibly damaging	Het
Kirrel3	G	A	9: 34,912,244 (GRCm39)	A196T	probably damaging	Het
Klra1	T	A	6: 130,349,802 (GRCm39)	D212V	possibly damaging	Het
N4bp2l2	G	A	5: 150,585,755 (GRCm39)	T75I	probably benign	Het
Niban1	T	C	1: 151,584,941 (GRCm39)	S513P	probably benign	Het
Nnmt	A	G	9: 48,503,447 (GRCm39)	L193P	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Ntm	A	G	9: 28,925,512 (GRCm39)	I191T	probably damaging	Het
Or2ak5	A	G	11: 58,611,055 (GRCm39)	V273A	probably benign	Het
Or52d13	A	C	7: 103,109,905 (GRCm39)	L170R	probably benign	Het
Or52h7	A	T	7: 104,214,201 (GRCm39)	T258S	probably benign	Het
Pam	A	C	1: 97,782,469 (GRCm39)		probably benign	Het
Pomk	T	A	8: 26,473,218 (GRCm39)	H245L	possibly damaging	Het
Rapgef4	G	A	2: 71,864,464 (GRCm39)		probably null	Het
Rasip1	G	T	7: 45,286,153 (GRCm39)	R792L	probably benign	Het
Ret	T	C	6: 118,132,392 (GRCm39)	Y1016C	probably damaging	Het
Rhbdd1	A	T	1: 82,318,531 (GRCm39)	N138I	possibly damaging	Het
Snx13	T	G	12: 35,153,119 (GRCm39)	V383G	probably damaging	Het
Tlr6	A	T	5: 65,112,361 (GRCm39)	L182Q	probably damaging	Het
Tlr9	T	C	9: 106,102,836 (GRCm39)	V709A	possibly damaging	Het
Tmprss6	T	C	15: 78,326,622 (GRCm39)	Y655C	probably damaging	Het
Ttn	A	T	2: 76,683,972 (GRCm39)		probably benign	Het
Ube3a	T	C	7: 58,938,525 (GRCm39)	I761T	probably damaging	Het
Ube3b	G	A	5: 114,544,240 (GRCm39)	D546N	probably damaging	Het
Ugt2b36	A	G	5: 87,237,341 (GRCm39)	V188A	possibly damaging	Het
Usp29	A	G	7: 6,965,191 (GRCm39)	I345V	probably benign	Het
Vmn2r78	A	G	7: 86,564,720 (GRCm39)	K55R	probably benign	Het
Wdsub1	A	G	2: 59,693,051 (GRCm39)	F288L	possibly damaging	Het
Zan	C	T	5: 137,392,693 (GRCm39)	V4601M	unknown	Het
Zbtb8b	T	C	4: 129,322,334 (GRCm39)	K376E	probably damaging	Het
Zfp619	A	T	7: 39,184,663 (GRCm39)	Y231F	probably benign	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
R5161:Syt3	UTSW	7	44,045,439 (GRCm39)	missense	possibly damaging	0.95
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
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'- GATATTTCCGTGAGCCTGCTG -3'
(R):5'- TTGGTTTGACTCCAGCAGCTAC -3'

Sequencing Primer
(F):5'- GTGAGCCTGCTGTCAGTCATC -3'
(R):5'- TTTGACTCCAGCAGCTACCACAG -3'

Posted On

2016-10-24