Mutagenetix > Incidental Mutation

Incidental Mutation 'R1622:Syt4'

174738

Institutional Source

Beutler Lab

Gene Symbol

Syt4

Ensembl Gene

ENSMUSG00000024261

Gene Name

synaptotagmin IV

Synonyms

MMRRC Submission

039659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1622 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31570861-31580459 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31577069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 95 (D95G)

Ref Sequence

ENSEMBL: ENSMUSP00000025110 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025110]

AlphaFold

P40749

Predicted Effect

probably damaging
Transcript: ENSMUST00000025110
AA Change: D95G

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

SMART Domains

Protein: ENSMUSP00000025110
Gene: ENSMUSG00000024261
AA Change: D95G

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
low complexity region	68	79	N/A	INTRINSIC
low complexity region	137	150	N/A	INTRINSIC
C2	169	273	1.5e-19	SMART
C2	303	417	3.5e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181067

Meta Mutation Damage Score

0.3013

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.3%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: The protein encoded by this gene belongs to the synaptotagmin family. Members of this family are multi-domained, integral membrane proteins of synaptic vesicles, and are thought to serve as Ca2+ sensors in the process of vesicular trafficking and exocytosis. This gene is primarily expressed in the nervous tissues. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impairments in motor coordination, contextual fear conditioning, and social transmission of food preference. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldoart2	A	G	12: 55,612,696 (GRCm39)	E207G	probably benign	Het
Arhgap19	T	A	19: 41,790,412 (GRCm39)	S19C	probably benign	Het
Arhgef18	T	A	8: 3,491,272 (GRCm39)	D374E	possibly damaging	Het
Atf2	A	G	2: 73,684,133 (GRCm39)		probably null	Het
Cadm1	A	G	9: 47,725,139 (GRCm39)	N300S	probably benign	Het
Ccdc159	A	T	9: 21,840,666 (GRCm39)	I78F	possibly damaging	Het
Cdh4	T	C	2: 179,530,885 (GRCm39)	I589T	possibly damaging	Het
Clstn1	T	C	4: 149,713,864 (GRCm39)	I182T	probably damaging	Het
Cnga3	T	A	1: 37,283,909 (GRCm39)		probably benign	Het
Cntln	T	A	4: 84,981,418 (GRCm39)	S865R	probably damaging	Het
Col5a3	C	T	9: 20,683,516 (GRCm39)	G1552E	unknown	Het
Col6a4	A	C	9: 105,874,334 (GRCm39)	S2218A	probably benign	Het
Ephb1	T	C	9: 101,878,910 (GRCm39)	T527A	probably benign	Het
Fkbp15	T	A	4: 62,241,439 (GRCm39)	I569F	possibly damaging	Het
Gabra4	A	G	5: 71,729,329 (GRCm39)	S484P	possibly damaging	Het
Glce	T	C	9: 61,977,843 (GRCm39)	I14V	possibly damaging	Het
Gm4884	A	T	7: 40,692,265 (GRCm39)	Q78L	probably damaging	Het
Gpn1	A	G	5: 31,660,748 (GRCm39)	T180A	possibly damaging	Het
Gpr6	A	T	10: 40,947,288 (GRCm39)	I98N	probably damaging	Het
Hcrtr2	T	C	9: 76,230,722 (GRCm39)	N22S	probably benign	Het
Hfm1	C	T	5: 107,041,389 (GRCm39)	V665I	possibly damaging	Het
Il4ra	T	A	7: 125,169,225 (GRCm39)	I159N	possibly damaging	Het
Irf8	G	C	8: 121,466,561 (GRCm39)	C2S	possibly damaging	Het
Itih2	A	T	2: 10,106,890 (GRCm39)	N701K	probably benign	Het
Lrrc4b	GAGAAG	GAG	7: 44,111,654 (GRCm39)		probably benign	Het
Mmp10	T	A	9: 7,504,996 (GRCm39)	Y263*	probably null	Het
Morc3	T	A	16: 93,671,694 (GRCm39)	M835K	probably benign	Het
Msh3	A	G	13: 92,481,462 (GRCm39)		probably null	Het
Ncbp1	A	G	4: 46,171,963 (GRCm39)	H777R	possibly damaging	Het
Nfatc1	A	G	18: 80,710,182 (GRCm39)	M514T	probably damaging	Het
Nlrp3	T	A	11: 59,439,302 (GRCm39)	I293N	probably damaging	Het
Pank2	A	T	2: 131,115,889 (GRCm39)	E102D	probably damaging	Het
Pbrm1	A	G	14: 30,754,505 (GRCm39)	D175G	probably benign	Het
Pcdh9	T	C	14: 94,123,311 (GRCm39)	D953G	probably benign	Het
Pibf1	G	A	14: 99,423,917 (GRCm39)	V497I	probably benign	Het
Pkd1	G	A	17: 24,800,614 (GRCm39)	M3085I	probably benign	Het
Prss58	A	T	6: 40,874,248 (GRCm39)	C143S	possibly damaging	Het
Rassf8	A	G	6: 145,765,829 (GRCm39)		probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Spag7	T	A	11: 70,555,688 (GRCm39)	D73V	probably damaging	Het
Sult3a1	A	T	10: 33,746,246 (GRCm39)	M189L	probably benign	Het
Tbc1d8	A	C	1: 39,419,317 (GRCm39)	S766A	probably benign	Het
Tmco5	A	T	2: 116,710,796 (GRCm39)	M39L	probably benign	Het
Trcg1	A	G	9: 57,155,955 (GRCm39)	N797S	possibly damaging	Het
Trim34a	A	T	7: 103,910,545 (GRCm39)		probably null	Het
Ubr5	T	C	15: 38,009,357 (GRCm39)		probably benign	Het
Urb2	A	G	8: 124,756,363 (GRCm39)	N690S	probably benign	Het
Zfp445	A	G	9: 122,681,614 (GRCm39)	Y776H	possibly damaging	Het
Zfp52	G	A	17: 21,781,833 (GRCm39)	M560I	probably benign	Het
Zfp608	A	G	18: 55,121,366 (GRCm39)	S74P	probably benign	Het
Zfp629	A	G	7: 127,211,012 (GRCm39)	C266R	probably damaging	Het
Zscan2	A	G	7: 80,525,134 (GRCm39)	K285R	probably benign	Het

Other mutations in Syt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Syt4	APN	18	31,580,227 (GRCm39)	utr 5 prime	probably benign
IGL01476:Syt4	APN	18	31,574,696 (GRCm39)	missense	probably damaging	1.00
IGL02412:Syt4	APN	18	31,576,896 (GRCm39)	missense	probably benign	0.19
IGL02550:Syt4	APN	18	31,577,246 (GRCm39)	missense	probably damaging	1.00
IGL02996:Syt4	APN	18	31,577,199 (GRCm39)	missense	probably damaging	1.00
F6893:Syt4	UTSW	18	31,577,274 (GRCm39)	missense	possibly damaging	0.74
PIT4434001:Syt4	UTSW	18	31,573,384 (GRCm39)	missense	probably damaging	1.00
R0103:Syt4	UTSW	18	31,580,273 (GRCm39)	start gained	probably benign
R0526:Syt4	UTSW	18	31,576,799 (GRCm39)	missense	possibly damaging	0.95
R1122:Syt4	UTSW	18	31,573,255 (GRCm39)	missense	probably damaging	1.00
R1786:Syt4	UTSW	18	31,576,496 (GRCm39)	splice site	probably benign
R1895:Syt4	UTSW	18	31,577,141 (GRCm39)	missense	probably damaging	1.00
R2114:Syt4	UTSW	18	31,573,520 (GRCm39)	missense	probably damaging	1.00
R2117:Syt4	UTSW	18	31,573,520 (GRCm39)	missense	probably damaging	1.00
R2655:Syt4	UTSW	18	31,576,597 (GRCm39)	missense	probably benign	0.01
R3079:Syt4	UTSW	18	31,574,738 (GRCm39)	missense	probably benign	0.08
R3730:Syt4	UTSW	18	31,577,189 (GRCm39)	missense	probably damaging	0.96
R4870:Syt4	UTSW	18	31,580,409 (GRCm39)	start gained	probably benign
R7638:Syt4	UTSW	18	31,576,875 (GRCm39)	missense	probably benign	0.20
R7646:Syt4	UTSW	18	31,574,658 (GRCm39)	missense	possibly damaging	0.95
R7746:Syt4	UTSW	18	31,577,318 (GRCm39)	missense	probably benign	0.02
R7799:Syt4	UTSW	18	31,573,245 (GRCm39)	nonsense	probably null
R8174:Syt4	UTSW	18	31,577,230 (GRCm39)	missense	probably benign	0.00
R8199:Syt4	UTSW	18	31,577,268 (GRCm39)	missense	probably benign	0.30
R8428:Syt4	UTSW	18	31,577,072 (GRCm39)	missense	probably damaging	1.00
R8436:Syt4	UTSW	18	31,573,472 (GRCm39)	missense	possibly damaging	0.93
R8487:Syt4	UTSW	18	31,576,790 (GRCm39)	missense	possibly damaging	0.65
Y5404:Syt4	UTSW	18	31,576,844 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAGTGCTGGACTTCAAGCTCTC -3'
(R):5'- CACCATTACTCGTGCCAGGAACTC -3'

Sequencing Primer
(F):5'- ACTTCAAGCTCTCAGGGGAATTG -3'
(R):5'- CCTGGATCTGCTGTCAGAGAAG -3'

Posted On

2014-04-24