Mutagenetix > Incidental Mutation

Incidental Mutation 'R5979:Syt7'

481355

Institutional Source

Beutler Lab

Gene Symbol

Syt7

Ensembl Gene

ENSMUSG00000024743

Gene Name

synaptotagmin VII

Synonyms

B230112P13Rik

MMRRC Submission

044161-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5979 (G1)

Quality Score

185.009

Status

Validated

Chromosome

Chromosomal Location

10366454-10430544 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 10420843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 414 (G414W)

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: G299W

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

SMART Domains

Protein: ENSMUSP00000073560
Gene: ENSMUSG00000024743
AA Change: G299W

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: G507W

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

SMART Domains

Protein: ENSMUSP00000076234
Gene: ENSMUSG00000024743
AA Change: G507W

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: G463W

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

SMART Domains

Protein: ENSMUSP00000127973
Gene: ENSMUSG00000024743
AA Change: G463W

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: G343W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000224135
AA Change: G414W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225861

Meta Mutation Damage Score

0.3026

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

100% (87/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,364,029 (GRCm39)	I103V	possibly damaging	Het
Adam3	T	C	8: 25,167,383 (GRCm39)	N36S	probably benign	Het
Adamts3	A	G	5: 90,009,528 (GRCm39)	V45A	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Agtpbp1	A	T	13: 59,681,860 (GRCm39)	L69*	probably null	Het
Alkbh5	T	A	11: 60,429,517 (GRCm39)	I90N	probably damaging	Het
Alx1	T	C	10: 102,858,120 (GRCm39)	Y193C	probably damaging	Het
Ankrd11	T	G	8: 123,619,139 (GRCm39)	D1571A	probably damaging	Het
Brd4	T	C	17: 32,417,700 (GRCm39)	D124G	probably benign	Het
C2cd2	G	A	16: 97,676,418 (GRCm39)	T443I	probably benign	Het
Casp8	A	T	1: 58,868,071 (GRCm39)	M171L	probably benign	Het
Cd200r4	G	A	16: 44,653,295 (GRCm39)	V22I	probably benign	Het
Cdcp2	A	G	4: 106,962,478 (GRCm39)	Y217C	probably damaging	Het
Cfh	C	A	1: 140,046,409 (GRCm39)	V556F	possibly damaging	Het
Chka	T	G	19: 3,934,513 (GRCm39)	I182M	probably damaging	Het
Cope	T	C	8: 70,755,193 (GRCm39)		probably null	Het
Coq10b	T	C	1: 55,092,077 (GRCm39)	V15A	probably benign	Het
Cpne9	T	A	6: 113,270,710 (GRCm39)	S309T	probably benign	Het
Daam2	T	A	17: 49,766,232 (GRCm39)	H992L	possibly damaging	Het
Dctn3	T	C	4: 41,715,393 (GRCm39)		probably null	Het
Dhx35	G	T	2: 158,684,789 (GRCm39)	R536L	probably benign	Het
Dnah8	G	T	17: 31,034,638 (GRCm39)	E4186*	probably null	Het
Dnah9	A	G	11: 65,725,307 (GRCm39)	L4282P	probably damaging	Het
Dpp10	A	G	1: 123,312,012 (GRCm39)		probably null	Het
Dst	T	A	1: 34,199,453 (GRCm39)		probably benign	Het
Ehbp1	C	A	11: 22,101,887 (GRCm39)	V214L	probably benign	Het
Fam131b	T	C	6: 42,298,905 (GRCm39)	D25G	probably damaging	Het
Fbxl13	T	A	5: 21,787,089 (GRCm39)	I283F	probably damaging	Het
Gabrr3	T	G	16: 59,254,931 (GRCm39)	N205K	possibly damaging	Het
Got1l1	C	T	8: 27,687,951 (GRCm39)		probably null	Het
Gprin1	G	A	13: 54,887,791 (GRCm39)	A161V	probably benign	Het
Hepacam2	A	T	6: 3,476,149 (GRCm39)	F183I	probably damaging	Het
Hmx2	A	G	7: 131,156,279 (GRCm39)	T82A	probably benign	Het
Igsf10	C	T	3: 59,243,894 (GRCm39)	E147K	probably damaging	Het
Kndc1	G	A	7: 139,519,740 (GRCm39)	A1700T	probably benign	Het
Knl1	T	C	2: 118,899,841 (GRCm39)	V514A	possibly damaging	Het
Lama2	T	C	10: 27,111,728 (GRCm39)	D764G	probably damaging	Het
Lgi3	G	A	14: 70,773,900 (GRCm39)	R358H	probably damaging	Het
Limd1	G	T	9: 123,308,479 (GRCm39)	Q59H	possibly damaging	Het
Lrrk2	A	G	15: 91,657,148 (GRCm39)	Y1814C	possibly damaging	Het
Lysmd3	G	A	13: 81,813,393 (GRCm39)		probably null	Het
Mroh7	T	C	4: 106,578,123 (GRCm39)	N185S	probably benign	Het
Muc2	A	G	7: 141,283,493 (GRCm39)		probably null	Het
Muc2	G	A	7: 141,305,143 (GRCm39)	G149D	probably damaging	Het
Nlrp3	T	C	11: 59,439,797 (GRCm39)	F458S	probably benign	Het
Nop58	A	T	1: 59,741,990 (GRCm39)	D173V	probably damaging	Het
Nrxn1	C	T	17: 91,395,631 (GRCm39)	R175H	possibly damaging	Het
Nxpe4	A	G	9: 48,307,862 (GRCm39)	N322S	probably benign	Het
Ocstamp	A	G	2: 165,239,467 (GRCm39)	S240P	probably damaging	Het
Or10a5	G	A	7: 106,635,543 (GRCm39)	M60I	probably damaging	Het
Or2j3	T	C	17: 38,616,083 (GRCm39)	K90E	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or9e1	A	G	11: 58,732,666 (GRCm39)	H242R	probably damaging	Het
Ovch2	G	A	7: 107,393,595 (GRCm39)	T177I	possibly damaging	Het
Parn	A	C	16: 13,424,035 (GRCm39)	L454R	probably damaging	Het
Pcdhb12	T	A	18: 37,571,044 (GRCm39)	L730Q	possibly damaging	Het
Phf3	G	T	1: 30,844,827 (GRCm39)	F1377L	probably damaging	Het
Pign	G	T	1: 105,516,999 (GRCm39)	S542R	probably benign	Het
Prex2	G	T	1: 11,202,596 (GRCm39)	V502F	probably damaging	Het
Psmd1	A	T	1: 86,017,775 (GRCm39)	I529F	possibly damaging	Het
Ptafr	A	G	4: 132,306,616 (GRCm39)	E2G	probably benign	Het
R3hdm1	A	G	1: 128,138,960 (GRCm39)	N380S	probably benign	Het
Rbm12	A	C	2: 155,939,679 (GRCm39)		probably benign	Het
Rgl1	A	G	1: 152,433,244 (GRCm39)	Y174H	probably damaging	Het
Rps6kc1	A	G	1: 190,532,632 (GRCm39)	S457P	probably damaging	Het
Sall4	A	T	2: 168,592,263 (GRCm39)	S964T	probably benign	Het
Sart1	T	A	19: 5,431,251 (GRCm39)	I681F	probably damaging	Het
Serinc5	T	C	13: 92,797,644 (GRCm39)	L49P	probably benign	Het
Serpinb9e	T	C	13: 33,439,036 (GRCm39)	V154A	probably benign	Het
Skic2	A	T	17: 35,060,439 (GRCm39)	N851K	probably benign	Het
Smox	G	A	2: 131,358,334 (GRCm39)	V136I	probably damaging	Het
Sspo	C	T	6: 48,440,627 (GRCm39)	T1747I	probably benign	Het
Swt1	A	T	1: 151,283,339 (GRCm39)	D339E	possibly damaging	Het
Synpo2	A	G	3: 122,911,060 (GRCm39)	L195P	probably damaging	Het
Tmem186	G	A	16: 8,454,024 (GRCm39)	T79I	probably damaging	Het
Tmem39a	A	T	16: 38,396,106 (GRCm39)	N113I	probably damaging	Het
Trim14	C	T	4: 46,507,239 (GRCm39)	V326M	probably damaging	Het
Trim58	A	G	11: 58,536,909 (GRCm39)	E234G	probably damaging	Het
Ttr	T	C	18: 20,803,059 (GRCm39)	L75P	probably damaging	Het
Ubr1	C	T	2: 120,776,863 (GRCm39)	V293I	probably benign	Het
Vmn1r91	T	A	7: 19,835,990 (GRCm39)	V303E	probably benign	Het
Vmn2r30	A	C	7: 7,315,334 (GRCm39)	I833S	probably damaging	Het
Zfp131	G	T	13: 120,237,982 (GRCm39)	N125K	probably benign	Het
Zfp169	A	T	13: 48,644,516 (GRCm39)		probably benign	Het
Zfp213	C	A	17: 23,776,885 (GRCm39)	E386*	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
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
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'- CAACTAGGCTCTCTGACCAC -3'
(R):5'- CCCAGAATATGTCCAGAGAGC -3'

Sequencing Primer
(F):5'- ACACCTGTCATCCCTGCAGG -3'
(R):5'- AGAGCTCTGCTATCTCTAGTCAGAG -3'

Posted On

2017-06-26