Mutagenetix > Incidental Mutation

Incidental Mutation 'R1793:Syt7'

202001

Institutional Source

Beutler Lab

Gene Symbol

Syt7

Ensembl Gene

ENSMUSG00000024743

Gene Name

synaptotagmin VII

Synonyms

MMRRC Submission

039823-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1793 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10389090-10453181 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 10443990 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 420 (Y420D)

Ref Sequence

ENSEMBL: ENSMUSP00000153132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073899] [ENSMUST00000076968] [ENSMUST00000169121] [ENSMUST00000223586] [ENSMUST00000224135]

AlphaFold

Q9R0N7

Predicted Effect

probably damaging
Transcript: ENSMUST00000073899
AA Change: Y305D

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

SMART Domains

Protein: ENSMUSP00000073560
Gene: ENSMUSG00000024743
AA Change: Y305D

Domain	Start	End	E-Value	Type
transmembrane domain	18	40	N/A	INTRINSIC
C2	151	254	3.29e-25	SMART
low complexity region	261	274	N/A	INTRINSIC
C2	282	396	4.98e-25	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000076968
AA Change: Y513D

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

SMART Domains

Protein: ENSMUSP00000076234
Gene: ENSMUSG00000024743
AA Change: Y513D

Domain	Start	End	E-Value	Type
transmembrane domain	18	40	N/A	INTRINSIC
C2	195	298	3.29e-25	SMART
low complexity region	305	318	N/A	INTRINSIC
C2	326	440	4.98e-25	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000169121
AA Change: Y469D

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

SMART Domains

Protein: ENSMUSP00000127973
Gene: ENSMUSG00000024743
AA Change: Y469D

Domain	Start	End	E-Value	Type
transmembrane domain	17	39	N/A	INTRINSIC
low complexity region	104	121	N/A	INTRINSIC
C2	315	418	3.29e-25	SMART
low complexity region	425	438	N/A	INTRINSIC
C2	446	560	4.98e-25	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000223586
AA Change: Y349D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000224135
AA Change: Y420D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225861

Meta Mutation Damage Score

0.9748

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

Validation Efficiency

100% (122/122)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. A similar protein in rodents mediates hormone secretion and lysosome exocytosis. In humans, expression of this gene has been associated with prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene have no gross abnormalities or obvious neurological defects. They do develop fibrosis in the skin and skeletal muscle over time. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,736,278	H571Q	probably damaging	Het
Abcf2	T	A	5: 24,568,776	M372L	probably benign	Het
Acaca	A	C	11: 84,315,969	T1552P	probably damaging	Het
Acaca	A	G	11: 84,338,393	D1682G	probably damaging	Het
Acvr1b	T	C	15: 101,194,025	V62A	probably benign	Het
Aimp1	C	T	3: 132,674,064	V97M	probably benign	Het
Aldh1l1	C	T	6: 90,577,831	T557I	possibly damaging	Het
Alpk1	T	C	3: 127,677,798	T1012A	probably damaging	Het
Amot	G	A	X: 145,450,589		probably benign	Het
Arap1	T	A	7: 101,388,622	H477Q	probably benign	Het
Arhgap18	T	A	10: 26,860,736		probably benign	Het
Arhgef10l	C	T	4: 140,515,373	V862M	probably damaging	Het
Arl4d	A	G	11: 101,666,728	I27V	probably benign	Het
Asb18	G	A	1: 90,014,555	P8L	probably damaging	Het
Ash1l	A	G	3: 89,070,309	H2682R	probably damaging	Het
Aspm	T	A	1: 139,457,341	V241E	probably benign	Het
Atf7ip	G	T	6: 136,609,219		probably benign	Het
AY358078	T	G	14: 51,804,594	M142R	unknown	Het
C3	T	A	17: 57,219,592	K796N	possibly damaging	Het
Cd3eap	T	C	7: 19,357,979	T68A	possibly damaging	Het
Ceacam16	T	C	7: 19,856,116	T301A	probably damaging	Het
Ceacam5	T	G	7: 17,747,395	Y356D	probably benign	Het
Cep192	C	T	18: 67,851,767	A1616V	possibly damaging	Het
Cherp	A	T	8: 72,463,150	H645Q	probably benign	Het
CK137956	T	C	4: 127,951,449	D167G	probably benign	Het
Clcn1	T	A	6: 42,298,926		probably null	Het
Cntn1	C	T	15: 92,291,671	T625I	possibly damaging	Het
Cpn2	T	A	16: 30,259,324	N520Y	probably damaging	Het
Crocc	G	A	4: 141,019,309	R1762W	probably damaging	Het
Cts3	C	A	13: 61,568,153	V100F	probably benign	Het
Ddx56	A	T	11: 6,266,934	V87D	probably damaging	Het
Dnah9	C	T	11: 66,119,594		probably null	Het
Dock1	T	A	7: 135,098,727		probably null	Het
Dst	T	A	1: 34,152,471	Y291*	probably null	Het
Eif4g3	T	C	4: 138,171,131	I1071T	probably damaging	Het
Fblim1	T	C	4: 141,595,238	Q78R	probably damaging	Het
Fcamr	C	T	1: 130,811,547	P195S	probably benign	Het
Fcho1	G	A	8: 71,709,022	Q835*	probably null	Het
Frem3	A	G	8: 80,613,112	N678S	probably benign	Het
Frk	G	A	10: 34,607,882	R413H	probably benign	Het
Gm10619	C	A	7: 73,810,010		noncoding transcript	Het
Gm12185	G	A	11: 48,915,756	R203*	probably null	Het
Gm12886	A	G	4: 121,422,977	V34A	probably benign	Het
Gna12	A	T	5: 140,760,952	I246N	probably damaging	Het
Gpm6a	T	C	8: 55,054,832	M201T	probably benign	Het
Gpsm2	T	G	3: 108,700,909	D220A	probably benign	Het
Grip2	C	G	6: 91,783,642	V325L	probably benign	Het
Grk5	C	A	19: 61,076,762	A288D	probably damaging	Het
Herpud2	G	A	9: 25,110,657	A231V	possibly damaging	Het
Hmcn1	T	C	1: 150,749,083	S1024G	probably benign	Het
Hp1bp3	A	G	4: 138,230,509	D295G	probably damaging	Het
Igsf21	T	C	4: 140,034,392	H325R	probably damaging	Het
Ing2	T	A	8: 47,669,329	L61F	probably damaging	Het
Jak3	T	C	8: 71,685,946		probably benign	Het
Kcnn3	T	A	3: 89,609,405	C374S	probably benign	Het
Klk1b22	A	G	7: 44,116,351		probably benign	Het
Larp1	T	C	11: 58,049,938	M630T	possibly damaging	Het
Lhx5	T	A	5: 120,434,660	C115S	probably damaging	Het
Lmcd1	C	A	6: 112,328,751	T271K	probably benign	Het
Lpar1	G	A	4: 58,486,798	R158*	probably null	Het
Lyst	T	A	13: 13,647,083	C1347*	probably null	Het
Maats1	T	A	16: 38,321,419	N384Y	possibly damaging	Het
Map3k8	G	A	18: 4,332,389	Q441*	probably null	Het
Mboat1	T	C	13: 30,219,650	V144A	probably damaging	Het
Mcur1	C	T	13: 43,560,015	G38S	unknown	Het
Med13	T	A	11: 86,329,351	M276L	probably benign	Het
Mefv	A	G	16: 3,708,664	S699P	possibly damaging	Het
Mfsd4a	C	A	1: 132,059,339	A62S	probably damaging	Het
Mmp27	A	G	9: 7,571,458	M1V	probably null	Het
Myo1c	C	T	11: 75,657,589	T58I	probably damaging	Het
Myom3	A	T	4: 135,810,755	D1316V	probably benign	Het
Naa25	T	A	5: 121,417,415	C235S	possibly damaging	Het
Naa25	C	A	5: 121,420,593	R333S	probably damaging	Het
Nav3	G	A	10: 109,703,372	T2056I	probably benign	Het
Nol4	A	G	18: 22,769,821	Y378H	probably damaging	Het
Npat	G	A	9: 53,552,289	R124Q	probably damaging	Het
Npr3	T	A	15: 11,848,579	E434V	probably benign	Het
Nptx2	A	G	5: 144,548,320	T208A	probably benign	Het
Obscn	C	T	11: 59,077,780	V2798M	probably damaging	Het
Olfr1406	A	T	1: 173,184,409	H8Q	probably benign	Het
Olfr1484	C	T	19: 13,585,415	T37I	probably benign	Het
Olfr569	A	G	7: 102,888,043	Y37H	probably benign	Het
Padi1	G	A	4: 140,814,656	P652S	probably damaging	Het
Pcdh1	G	T	18: 38,198,885	P355Q	probably damaging	Het
Pck2	G	A	14: 55,543,965	R189H	possibly damaging	Het
Pcsk5	T	A	19: 17,454,750	K1500N	possibly damaging	Het
Phc3	A	T	3: 30,948,716	S218T	probably damaging	Het
Piezo2	T	A	18: 63,106,284	M510L	possibly damaging	Het
Ppp1r3a	A	T	6: 14,754,718	Y177N	probably damaging	Het
Psme2b	A	T	11: 48,945,534	D195E	probably damaging	Het
Ptprr	T	C	10: 116,252,922	V463A	probably damaging	Het
Pwwp2b	G	A	7: 139,256,365	R574Q	probably damaging	Het
Rap1gds1	T	A	3: 139,050,553	T14S	possibly damaging	Het
Rbm11	A	T	16: 75,600,797	K205M	probably damaging	Het
Rfx1	T	A	8: 84,066,421		probably benign	Het
Rnasel	C	A	1: 153,754,423	H228Q	probably damaging	Het
Sap130	T	A	18: 31,698,587	I710K	probably benign	Het
Slc27a4	C	A	2: 29,805,721	D89E	probably benign	Het
Spata31d1b	T	C	13: 59,715,965	V309A	probably benign	Het
Tanc2	A	G	11: 105,625,033		probably null	Het
Tbc1d10b	A	G	7: 127,203,758	S333P	possibly damaging	Het
Tenm2	G	A	11: 36,023,382	P2442S	probably damaging	Het
Tenm3	C	T	8: 48,674,544	C33Y	probably damaging	Het
Timmdc1	A	G	16: 38,499,057	L245P	possibly damaging	Het
Tlr5	T	C	1: 182,972,447	F5L	probably benign	Het
Ttc25	C	A	11: 100,569,853		probably null	Het
Ttll4	T	A	1: 74,687,840	F784L	possibly damaging	Het
Tulp4	A	G	17: 6,139,112	T70A	possibly damaging	Het
Txndc17	T	A	11: 72,208,745	N81K	probably benign	Het
Ubr3	C	T	2: 70,000,551		probably benign	Het
Uri1	A	C	7: 37,981,691	V96G	probably damaging	Het
Uspl1	T	A	5: 149,213,436	I482N	probably damaging	Het
Vmn1r229	A	G	17: 20,814,712	N73S	possibly damaging	Het
Vwa7	G	T	17: 35,024,412	G689*	probably null	Het
Zfp114	T	A	7: 24,177,739		probably null	Het
Zfp618	A	G	4: 63,133,237	S659G	probably damaging	Het
Zfp872	A	G	9: 22,200,053	K275R	probably damaging	Het
Zzef1	C	T	11: 72,886,709	P1789S	probably damaging	Het

Other mutations in Syt7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01956:Syt7	APN	19	10443391	missense	probably benign	0.03
R0412:Syt7	UTSW	19	10444080	nonsense	probably null
R1068:Syt7	UTSW	19	10444011	missense	probably benign	0.01
R1955:Syt7	UTSW	19	10418038	missense	probably damaging	1.00
R2049:Syt7	UTSW	19	10439213	missense	probably benign	0.28
R2170:Syt7	UTSW	19	10439380	missense	probably damaging	1.00
R2911:Syt7	UTSW	19	10443435	missense	probably benign	0.00
R3694:Syt7	UTSW	19	10435636	missense	possibly damaging	0.69
R4330:Syt7	UTSW	19	10421798	missense	probably damaging	1.00
R4573:Syt7	UTSW	19	10439212	nonsense	probably null
R4691:Syt7	UTSW	19	10426481	missense	probably damaging	0.98
R4732:Syt7	UTSW	19	10442924	missense	probably damaging	1.00
R4733:Syt7	UTSW	19	10442924	missense	probably damaging	1.00
R4811:Syt7	UTSW	19	10435567	missense	probably damaging	0.98
R5067:Syt7	UTSW	19	10442858	missense	possibly damaging	0.58
R5069:Syt7	UTSW	19	10439237	missense	probably benign	0.00
R5071:Syt7	UTSW	19	10443428	missense	possibly damaging	0.92
R5372:Syt7	UTSW	19	10426621	missense	probably damaging	1.00
R5830:Syt7	UTSW	19	10421787	missense	probably damaging	1.00
R5979:Syt7	UTSW	19	10443479	missense	probably damaging	1.00
R6737:Syt7	UTSW	19	10444044	missense	probably damaging	1.00
R6833:Syt7	UTSW	19	10444144	missense	probably damaging	1.00
R6843:Syt7	UTSW	19	10421771	missense	probably damaging	1.00
R7010:Syt7	UTSW	19	10417990	missense	probably benign	0.16
R7078:Syt7	UTSW	19	10435599	missense	probably benign	0.14
R7206:Syt7	UTSW	19	10417973	missense	probably damaging	1.00
R9116:Syt7	UTSW	19	10444009	missense	probably damaging	1.00
R9451:Syt7	UTSW	19	10444168	missense	probably damaging	1.00
R9582:Syt7	UTSW	19	10439416	missense	probably damaging	1.00
R9610:Syt7	UTSW	19	10444095	missense	probably benign	0.06
Z1176:Syt7	UTSW	19	10443410	missense	probably damaging	1.00
Z1177:Syt7	UTSW	19	10426493	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CAGCATGAGAACACTGAAGC -3'
(R):5'- GAGCTTGTCTTTGTCCATGAC -3'

Sequencing Primer
(F):5'- GCCAGGGTCTTTTTAGGTTCTACC -3'
(R):5'- TCCATGACAGTGATGATGATCG -3'

Posted On

2014-06-23