Mutagenetix > Incidental Mutation

Incidental Mutation 'R5069:Syt7'

388593

Institutional Source

Beutler Lab

Gene Symbol

Syt7

Ensembl Gene

ENSMUSG00000024743

Gene Name

synaptotagmin VII

Synonyms

B230112P13Rik

MMRRC Submission

042659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5069 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10366454-10430544 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10416601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 261 (N261S)

Ref Sequence

ENSEMBL: ENSMUSP00000153132 (fasta)

Gene Model

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

AlphaFold

Q9R0N7

Predicted Effect

probably benign
Transcript: ENSMUST00000073899
AA Change: N146S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000073560
Gene: ENSMUSG00000024743
AA Change: N146S

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 benign
Transcript: ENSMUST00000076968
AA Change: N354S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000076234
Gene: ENSMUSG00000024743
AA Change: N354S

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 benign
Transcript: ENSMUST00000169121
AA Change: N310S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127973
Gene: ENSMUSG00000024743
AA Change: N310S

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 benign
Transcript: ENSMUST00000223586
AA Change: N190S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000224135
AA Change: N261S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225861

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
AAdacl4fm3	T	A	4: 144,430,437 (GRCm39)	D184V	probably damaging	Het
Actn2	A	G	13: 12,303,408 (GRCm39)	I464T	possibly damaging	Het
Adcy7	T	C	8: 89,054,325 (GRCm39)	L1060P	probably damaging	Het
Aff3	A	G	1: 38,220,694 (GRCm39)		probably null	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	Het
Ankrd27	A	T	7: 35,327,860 (GRCm39)	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,211,714 (GRCm39)	T90A	probably damaging	Het
Armc9	A	T	1: 86,184,959 (GRCm39)	H670L	probably benign	Het
Arvcf	A	G	16: 18,217,736 (GRCm39)	Y412C	probably damaging	Het
Ass1	C	T	2: 31,400,185 (GRCm39)	T301M	probably damaging	Het
Baiap3	A	T	17: 25,468,082 (GRCm39)	C283S	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,619,527 (GRCm39)	L354P	probably damaging	Het
Cdh3	A	G	8: 107,263,458 (GRCm39)	N126S	probably benign	Het
Cfap54	A	C	10: 92,773,636 (GRCm39)	F135L	probably benign	Het
Dlg1	G	T	16: 31,503,113 (GRCm39)		probably null	Het
Dnah3	T	C	7: 119,632,013 (GRCm39)	H1314R	probably benign	Het
Dsp	A	C	13: 38,381,099 (GRCm39)	T2615P	possibly damaging	Het
Elapor2	T	A	5: 9,490,897 (GRCm39)	C636S	probably damaging	Het
Enpp2	T	C	15: 54,727,450 (GRCm39)	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,292,020 (GRCm39)	V1128A	probably benign	Het
Firrm	T	C	1: 163,815,243 (GRCm39)	T93A	possibly damaging	Het
Gipc2	A	G	3: 151,799,885 (GRCm39)	F282L	probably benign	Het
Gm1043	T	G	5: 37,344,580 (GRCm39)	L231R	probably damaging	Het
Gpr153	T	A	4: 152,364,340 (GRCm39)	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,230,546 (GRCm39)	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,278,451 (GRCm39)		probably null	Het
Kat6a	G	A	8: 23,393,149 (GRCm39)	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,011,953 (GRCm39)	V178D	probably damaging	Het
Krt75	A	G	15: 101,474,673 (GRCm39)		probably null	Het
Letm2	G	A	8: 26,083,980 (GRCm39)	Q84*	probably null	Het
Mib1	A	G	18: 10,793,002 (GRCm39)	E646G	probably damaging	Het
Mmp14	T	A	14: 54,676,570 (GRCm39)	Y372N	probably damaging	Het
Muc6	A	G	7: 141,237,564 (GRCm39)	C218R	probably damaging	Het
Myof	A	T	19: 37,893,773 (GRCm39)	I1130N	possibly damaging	Het
Neil3	A	G	8: 54,054,076 (GRCm39)	S318P	possibly damaging	Het
Nhlh1	A	G	1: 171,881,467 (GRCm39)	V133A	probably benign	Het
Nup153	A	C	13: 46,863,268 (GRCm39)	S331A	probably benign	Het
Nup98	T	C	7: 101,794,862 (GRCm39)	T882A	probably benign	Het
Or11g2	T	A	14: 50,856,197 (GRCm39)	C173S	probably damaging	Het
Or11h4	C	A	14: 50,974,531 (GRCm39)	L29F	probably benign	Het
Or52ab4	A	T	7: 102,987,229 (GRCm39)		probably null	Het
Or9s23	T	A	1: 92,501,135 (GRCm39)	S81T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pald1	A	T	10: 61,177,025 (GRCm39)	M675K	possibly damaging	Het
Pex5	A	G	6: 124,390,555 (GRCm39)	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,161,140 (GRCm39)	A897V	probably benign	Het
Plxnd1	A	T	6: 115,942,862 (GRCm39)	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,627,561 (GRCm39)		probably null	Het
Ppfia1	G	A	7: 144,068,210 (GRCm39)	Q446*	probably null	Het
Psma2	G	A	13: 14,790,613 (GRCm39)	V20I	probably benign	Het
Pwwp4a	T	C	X: 72,171,577 (GRCm39)	I323T	probably damaging	Het
Rhbdl2	T	A	4: 123,711,710 (GRCm39)	L149*	probably null	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rtel1	G	A	2: 180,997,285 (GRCm39)	V1042M	probably benign	Het
Sidt2	A	T	9: 45,850,759 (GRCm39)		probably null	Het
Slc11a1	G	A	1: 74,424,343 (GRCm39)	A434T	probably damaging	Het
Slc28a2b	A	T	2: 122,324,854 (GRCm39)	N142I	possibly damaging	Het
Slc4a10	G	A	2: 62,097,915 (GRCm39)	R508H	probably benign	Het
Slc5a8	A	T	10: 88,722,460 (GRCm39)	I98F	possibly damaging	Het
Slf2	T	A	19: 44,923,692 (GRCm39)	S169T	possibly damaging	Het
Snx33	A	T	9: 56,833,475 (GRCm39)	I198N	probably damaging	Het
Spock3	A	G	8: 63,808,299 (GRCm39)	T396A	probably benign	Het
Sva	A	T	6: 42,015,351 (GRCm39)		probably benign	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Thoc2	C	T	X: 40,895,570 (GRCm39)	E1491K	probably damaging	Het
Tlr1	T	C	5: 65,083,743 (GRCm39)	Y278C	probably benign	Het
Tph2	T	A	10: 114,987,079 (GRCm39)	Y237F	probably benign	Het
Trim35	C	T	14: 66,546,421 (GRCm39)		probably benign	Het
Trpm4	T	G	7: 44,959,893 (GRCm39)	Y667S	probably damaging	Het
Ttc27	T	A	17: 75,106,337 (GRCm39)	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,851,387 (GRCm39)	H709R	probably damaging	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wars2	A	G	3: 99,094,849 (GRCm39)	H48R	probably damaging	Het
Xlr4c	T	A	X: 72,282,290 (GRCm39)	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,254,688 (GRCm39)	C1427*	probably null	Het

Other mutations in Syt7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01956:Syt7	APN	19	10,420,755 (GRCm39)	missense	probably benign	0.03
R0412:Syt7	UTSW	19	10,421,444 (GRCm39)	nonsense	probably null
R1068:Syt7	UTSW	19	10,421,375 (GRCm39)	missense	probably benign	0.01
R1793:Syt7	UTSW	19	10,421,354 (GRCm39)	missense	probably damaging	1.00
R1955:Syt7	UTSW	19	10,395,402 (GRCm39)	missense	probably damaging	1.00
R2049:Syt7	UTSW	19	10,416,577 (GRCm39)	missense	probably benign	0.28
R2170:Syt7	UTSW	19	10,416,744 (GRCm39)	missense	probably damaging	1.00
R2911:Syt7	UTSW	19	10,420,799 (GRCm39)	missense	probably benign	0.00
R3694:Syt7	UTSW	19	10,413,000 (GRCm39)	missense	possibly damaging	0.69
R4330:Syt7	UTSW	19	10,399,162 (GRCm39)	missense	probably damaging	1.00
R4573:Syt7	UTSW	19	10,416,576 (GRCm39)	nonsense	probably null
R4691:Syt7	UTSW	19	10,403,845 (GRCm39)	missense	probably damaging	0.98
R4732:Syt7	UTSW	19	10,420,288 (GRCm39)	missense	probably damaging	1.00
R4733:Syt7	UTSW	19	10,420,288 (GRCm39)	missense	probably damaging	1.00
R4811:Syt7	UTSW	19	10,412,931 (GRCm39)	missense	probably damaging	0.98
R5067:Syt7	UTSW	19	10,420,222 (GRCm39)	missense	possibly damaging	0.58
R5071:Syt7	UTSW	19	10,420,792 (GRCm39)	missense	possibly damaging	0.92
R5372:Syt7	UTSW	19	10,403,985 (GRCm39)	missense	probably damaging	1.00
R5830:Syt7	UTSW	19	10,399,151 (GRCm39)	missense	probably damaging	1.00
R5979:Syt7	UTSW	19	10,420,843 (GRCm39)	missense	probably damaging	1.00
R6737:Syt7	UTSW	19	10,421,408 (GRCm39)	missense	probably damaging	1.00
R6833:Syt7	UTSW	19	10,421,508 (GRCm39)	missense	probably damaging	1.00
R6843:Syt7	UTSW	19	10,399,135 (GRCm39)	missense	probably damaging	1.00
R7010:Syt7	UTSW	19	10,395,354 (GRCm39)	missense	probably benign	0.16
R7078:Syt7	UTSW	19	10,412,963 (GRCm39)	missense	probably benign	0.14
R7206:Syt7	UTSW	19	10,395,337 (GRCm39)	missense	probably damaging	1.00
R9116:Syt7	UTSW	19	10,421,373 (GRCm39)	missense	probably damaging	1.00
R9451:Syt7	UTSW	19	10,421,532 (GRCm39)	missense	probably damaging	1.00
R9582:Syt7	UTSW	19	10,416,780 (GRCm39)	missense	probably damaging	1.00
R9610:Syt7	UTSW	19	10,421,459 (GRCm39)	missense	probably benign	0.06
Z1176:Syt7	UTSW	19	10,420,774 (GRCm39)	missense	probably damaging	1.00
Z1177:Syt7	UTSW	19	10,403,857 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GAATGTGATAGGACACCACCC -3'
(R):5'- CTCATTCCAGTGCGGGTTTAG -3'

Sequencing Primer
(F):5'- CTGGCCACATGTTGCAATAAG -3'
(R):5'- CCAGTGCGGGTTTAGATTCTTCC -3'

Posted On

2016-06-06