Mutagenetix > Incidental Mutation

Incidental Mutation 'R4573:Syt7'

342307

Institutional Source

Beutler Lab

Gene Symbol

Syt7

Ensembl Gene

ENSMUSG00000024743

Gene Name

synaptotagmin VII

Synonyms

B230112P13Rik

MMRRC Submission

041598-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4573 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10366454-10430544 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 10416576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 253 (R253*)

Ref Sequence

ENSEMBL: ENSMUSP00000153132 (fasta)

Gene Model

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

AlphaFold

Q9R0N7

Predicted Effect

probably null
Transcript: ENSMUST00000073899
AA Change: R138*

SMART Domains

Protein: ENSMUSP00000073560
Gene: ENSMUSG00000024743
AA Change: R138*

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 null
Transcript: ENSMUST00000076968
AA Change: R346*

SMART Domains

Protein: ENSMUSP00000076234
Gene: ENSMUSG00000024743
AA Change: R346*

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 null
Transcript: ENSMUST00000169121
AA Change: R302*

SMART Domains

Protein: ENSMUSP00000127973
Gene: ENSMUSG00000024743
AA Change: R302*

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 null
Transcript: ENSMUST00000223586
AA Change: R182*

Predicted Effect

probably null
Transcript: ENSMUST00000224135
AA Change: R253*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225861

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	T	C	3: 89,253,293 (GRCm39)	E212G	probably damaging	Het
Adam1b	A	C	5: 121,638,856 (GRCm39)	S730A	probably benign	Het
Akr1b10	T	C	6: 34,369,064 (GRCm39)	V153A	probably damaging	Het
Ap1m2	T	C	9: 21,217,054 (GRCm39)	Y94C	probably damaging	Het
Arhgef33	T	C	17: 80,672,711 (GRCm39)	S320P	probably damaging	Het
Arsg	T	C	11: 109,408,108 (GRCm39)	S87P	probably damaging	Het
Asic3	A	G	5: 24,622,190 (GRCm39)	Y458C	probably damaging	Het
Aspm	G	T	1: 139,407,245 (GRCm39)	W2044L	probably damaging	Het
Atad2b	T	C	12: 5,004,663 (GRCm39)		probably null	Het
Atp1a2	T	C	1: 172,106,204 (GRCm39)	I869M	possibly damaging	Het
Bpifb2	C	T	2: 153,731,412 (GRCm39)	L263F	probably damaging	Het
C1s2	T	C	6: 124,605,202 (GRCm39)		probably null	Het
Carf	G	T	1: 60,187,271 (GRCm39)	A590S	probably benign	Het
Cbarp	G	T	10: 79,967,245 (GRCm39)	D658E	probably damaging	Het
Cd1d2	A	G	3: 86,894,861 (GRCm39)	I78V	probably benign	Het
Cdc42bpb	A	T	12: 111,289,575 (GRCm39)	M418K	probably benign	Het
Cdhr3	A	T	12: 33,118,152 (GRCm39)		probably null	Het
Cep290	A	G	10: 100,354,712 (GRCm39)	K932R	probably benign	Het
Ces1d	A	C	8: 93,908,162 (GRCm39)	N310K	probably benign	Het
Chka	A	G	19: 3,935,960 (GRCm39)	K240R	probably damaging	Het
Cltb	C	T	13: 54,746,574 (GRCm39)	R64H	probably damaging	Het
Cyp4f37	A	G	17: 32,848,061 (GRCm39)	E193G	probably benign	Het
Dhrs9	C	A	2: 69,227,985 (GRCm39)	H200N	probably benign	Het
Dnah6	T	A	6: 73,063,164 (GRCm39)	N2698I	probably damaging	Het
Dnah8	T	C	17: 30,919,380 (GRCm39)	S1118P	probably benign	Het
Dyrk1a	A	G	16: 94,492,882 (GRCm39)	Y705C	possibly damaging	Het
Elmod1	T	C	9: 53,833,256 (GRCm39)	N183S	probably damaging	Het
Fer1l6	G	A	15: 58,498,129 (GRCm39)		probably null	Het
Fsip2	A	T	2: 82,816,510 (GRCm39)	Y4081F	possibly damaging	Het
Gsr	A	G	8: 34,183,881 (GRCm39)	D381G	probably benign	Het
Gucy1a1	A	G	3: 82,016,229 (GRCm39)	L253S	possibly damaging	Het
Herc3	C	A	6: 58,871,098 (GRCm39)	T69K	possibly damaging	Het
Hoxb13	A	G	11: 96,085,777 (GRCm39)	Y170C	probably damaging	Het
Hsd3b5	T	C	3: 98,526,964 (GRCm39)	M161V	probably benign	Het
Lrp6	G	A	6: 134,447,693 (GRCm39)	R985*	probably null	Het
Marchf5	T	A	19: 37,197,793 (GRCm39)	I154K	probably damaging	Het
Mcemp1	A	G	8: 3,715,835 (GRCm39)		probably null	Het
Mrpl2	G	T	17: 46,959,967 (GRCm39)	C212F	possibly damaging	Het
Mterf1a	G	A	5: 3,941,119 (GRCm39)	R250W	possibly damaging	Het
Mthfd1	A	G	12: 76,340,912 (GRCm39)		probably null	Het
Mul1	T	C	4: 138,163,660 (GRCm39)	F19L	probably benign	Het
Mycbp2	G	T	14: 103,583,733 (GRCm39)	A74E	probably benign	Het
Myo5a	A	T	9: 75,108,579 (GRCm39)		probably null	Het
Ncor2	A	T	5: 125,132,889 (GRCm39)	S33T	probably damaging	Het
Niban1	T	C	1: 151,579,517 (GRCm39)	V412A	possibly damaging	Het
Ninj1	A	G	13: 49,348,463 (GRCm39)	N191S	probably damaging	Het
Nrap	T	C	19: 56,330,770 (GRCm39)		probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or1j21	T	A	2: 36,683,491 (GRCm39)	M81K	probably damaging	Het
Or1n1b	T	C	2: 36,780,202 (GRCm39)	I219M	probably damaging	Het
Osbpl5	C	A	7: 143,248,053 (GRCm39)	V671L	probably benign	Het
Paics	T	C	5: 77,104,450 (GRCm39)	L25S	probably benign	Het
Pcmtd1	A	G	1: 7,190,591 (GRCm39)	E20G	probably damaging	Het
Pgbd5	G	A	8: 125,102,966 (GRCm39)	Q228*	probably null	Het
Pnpla7	T	C	2: 24,940,885 (GRCm39)	V1079A	probably damaging	Het
Pou2f1	G	A	1: 165,740,830 (GRCm39)	T113I	probably benign	Het
Ppp1r14c	A	G	10: 3,413,416 (GRCm39)	I150V	possibly damaging	Het
Ppp1r2	A	G	16: 31,079,455 (GRCm39)	Y115H	possibly damaging	Het
Ptchd4	T	C	17: 42,813,668 (GRCm39)	V523A	probably benign	Het
Rabep1	G	C	11: 70,808,577 (GRCm39)	S468T	probably damaging	Het
Rgs6	T	A	12: 83,112,789 (GRCm39)	W200R	probably damaging	Het
Ryr3	C	T	2: 112,585,519 (GRCm39)		probably null	Het
Scamp2	A	T	9: 57,484,477 (GRCm39)	D20V	probably damaging	Het
Sec24d	G	A	3: 123,152,519 (GRCm39)	V844M	probably damaging	Het
Septin10	T	A	10: 59,028,151 (GRCm39)	N57Y	probably damaging	Het
Sis	T	C	3: 72,835,570 (GRCm39)	K931E	possibly damaging	Het
Slamf7	T	C	1: 171,463,934 (GRCm39)	T258A	probably benign	Het
Slc15a1	A	G	14: 121,724,441 (GRCm39)	S144P	probably damaging	Het
Slc6a7	A	T	18: 61,135,253 (GRCm39)	V425E	probably benign	Het
Tm4sf1	A	T	3: 57,202,206 (GRCm39)	C2S	possibly damaging	Het
Trio	CCTTCTTCTTCT	CCTTCTTCT	15: 27,773,084 (GRCm39)		probably benign	Het
Trpm3	C	T	19: 22,879,506 (GRCm39)	H594Y	probably damaging	Het
Tshz1	A	T	18: 84,033,207 (GRCm39)	N400K	probably damaging	Het
Vat1	A	T	11: 101,351,441 (GRCm39)	M300K	probably benign	Het
Vmn1r70	C	A	7: 10,367,556 (GRCm39)		probably null	Het
Vmn2r5	C	T	3: 64,411,339 (GRCm39)	D410N	probably damaging	Het
Yap1	T	C	9: 7,934,682 (GRCm39)	D428G	probably damaging	Het
Zbed6	A	G	1: 133,587,127 (GRCm39)	I70T	probably benign	Het
Zfp157	A	G	5: 138,455,191 (GRCm39)	Y463C	probably damaging	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
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
R5069:Syt7	UTSW	19	10,416,601 (GRCm39)	missense	probably benign	0.00
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'- GGCCATGAATGTGATAGGACAC -3'
(R):5'- GCGGGTTTAGATTCTTCCGC -3'

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

Posted On

2015-09-24