Mutagenetix > Incidental Mutation

Incidental Mutation 'R5372:Syt7'

428836

Institutional Source

Beutler Lab

Gene Symbol

Syt7

Ensembl Gene

ENSMUSG00000024743

Gene Name

synaptotagmin VII

Synonyms

B230112P13Rik

MMRRC Submission

042948-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5372 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10366454-10430544 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 10403985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 180 (V180L)

Ref Sequence

ENSEMBL: ENSMUSP00000127973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073899] [ENSMUST00000076968] [ENSMUST00000169121] [ENSMUST00000223586] [ENSMUST00000224135] [ENSMUST00000225452]

AlphaFold

Q9R0N7

Predicted Effect

probably benign
Transcript: ENSMUST00000073899

SMART Domains

Protein: ENSMUSP00000073560
Gene: ENSMUSG00000024743

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: V224L

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000076234
Gene: ENSMUSG00000024743
AA Change: V224L

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: V180L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127973
Gene: ENSMUSG00000024743
AA Change: V180L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000224135
AA Change: V131L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225019

Predicted Effect

probably benign
Transcript: ENSMUST00000225452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225861

Meta Mutation Damage Score

0.0885

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

96% (89/93)

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
Abca4	T	A	3: 121,848,988 (GRCm39)	D108E	probably damaging	Het
Abhd12b	A	G	12: 70,227,800 (GRCm39)	D194G	probably damaging	Het
Adck5	A	G	15: 76,478,707 (GRCm39)		probably benign	Het
Adgrb3	C	T	1: 25,167,940 (GRCm39)	V792I	probably benign	Het
Anxa8	G	A	14: 33,815,868 (GRCm39)	V174M	probably damaging	Het
Apol9b	A	T	15: 77,619,920 (GRCm39)	R239W	probably benign	Het
Arhgap26	A	G	18: 38,775,509 (GRCm39)		noncoding transcript	Het
Atrnl1	A	G	19: 57,743,968 (GRCm39)	Y1190C	probably benign	Het
Brinp3	T	G	1: 146,707,464 (GRCm39)	L376R	probably damaging	Het
Btbd2	A	T	10: 80,484,475 (GRCm39)	M132K	probably damaging	Het
C130073F10Rik	A	T	4: 101,747,684 (GRCm39)	I115K	probably damaging	Het
C1ra	T	A	6: 124,498,584 (GRCm39)	Y426N	probably damaging	Het
Cacna1b	A	T	2: 24,623,971 (GRCm39)	V203E	probably damaging	Het
Catsperg1	T	A	7: 28,910,137 (GRCm39)	D68V	probably benign	Het
Ccdc158	A	C	5: 92,780,419 (GRCm39)	S885A	possibly damaging	Het
Cdc42bpa	T	C	1: 179,892,544 (GRCm39)	V236A	probably damaging	Het
Cdca7	A	T	2: 72,312,793 (GRCm39)	E176D	probably damaging	Het
Cdk17	A	G	10: 93,061,901 (GRCm39)	D211G	probably benign	Het
Clca3a2	A	C	3: 144,503,286 (GRCm39)	M888R	probably benign	Het
Clcn7	T	A	17: 25,376,153 (GRCm39)	M568K	possibly damaging	Het
Clip1	G	T	5: 123,768,303 (GRCm39)	N811K	probably benign	Het
Col12a1	T	A	9: 79,585,648 (GRCm39)	Y1243F	probably damaging	Het
Dctn1	T	A	6: 83,167,192 (GRCm39)	D315E	probably damaging	Het
Dgcr2	T	C	16: 17,690,508 (GRCm39)	T41A	probably benign	Het
Dync2h1	G	A	9: 7,176,962 (GRCm39)		probably benign	Het
Ep300	A	G	15: 81,521,031 (GRCm39)	I1264V	unknown	Het
Fam167b	A	T	4: 129,472,092 (GRCm39)	L26Q	possibly damaging	Het
Fam178b	T	A	1: 36,603,929 (GRCm39)	I457F	possibly damaging	Het
Fgd4	A	T	16: 16,302,155 (GRCm39)	N133K	probably benign	Het
Fndc1	C	G	17: 7,984,042 (GRCm39)	V1295L	unknown	Het
Gad2	A	T	2: 22,580,255 (GRCm39)	D552V	possibly damaging	Het
Hars2	T	C	18: 36,923,534 (GRCm39)	Y361H	possibly damaging	Het
Heca	T	A	10: 17,790,887 (GRCm39)	S390C	probably damaging	Het
Hephl1	G	T	9: 15,009,195 (GRCm39)	Y132*	probably null	Het
Hormad1	T	A	3: 95,483,735 (GRCm39)	D182E	probably damaging	Het
Ifna15	G	A	4: 88,476,338 (GRCm39)	P49S	probably damaging	Het
Khsrp	T	C	17: 57,331,292 (GRCm39)	T429A	possibly damaging	Het
Magi2	A	G	5: 20,907,108 (GRCm39)	Q1094R	possibly damaging	Het
Map3k11	T	A	19: 5,740,990 (GRCm39)	I239K	probably damaging	Het
Mtus2	A	G	5: 148,250,222 (GRCm39)	T1319A	probably damaging	Het
Nup54	A	G	5: 92,565,716 (GRCm39)	I406T	probably damaging	Het
Nxpe2	T	C	9: 48,250,819 (GRCm39)	T43A	possibly damaging	Het
Nynrin	A	G	14: 56,105,948 (GRCm39)	E889G	probably benign	Het
Opa1	A	C	16: 29,404,937 (GRCm39)	H45P	probably benign	Het
Or14c44	T	A	7: 86,062,176 (GRCm39)	I202N	possibly damaging	Het
Or4f60	A	G	2: 111,902,454 (GRCm39)	I158T	probably benign	Het
Or56b2j	A	G	7: 104,353,002 (GRCm39)	D76G	probably benign	Het
Or8a1b	T	C	9: 37,623,234 (GRCm39)	M114V	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Papola	A	G	12: 105,793,309 (GRCm39)	K543R	probably benign	Het
Plcxd3	G	A	15: 4,604,270 (GRCm39)	V293I	probably benign	Het
Polr2g	T	C	19: 8,774,667 (GRCm39)	Y72C	probably damaging	Het
Ppp1r21	A	G	17: 88,858,103 (GRCm39)	K205E	probably benign	Het
Ptpre	A	G	7: 135,255,669 (GRCm39)	K53E	possibly damaging	Het
Rasal3	T	C	17: 32,610,318 (GRCm39)	K990E	probably benign	Het
Rgs3	A	T	4: 62,570,934 (GRCm39)		probably benign	Het
Rhd	A	G	4: 134,611,943 (GRCm39)	T254A	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scube3	G	T	17: 28,371,456 (GRCm39)	C57F	probably damaging	Het
Sh2d5	A	G	4: 137,982,010 (GRCm39)	D57G	possibly damaging	Het
Slc12a6	T	A	2: 112,177,705 (GRCm39)	L608*	probably null	Het
Slk	A	T	19: 47,613,832 (GRCm39)	N896I	probably damaging	Het
Smc6	A	G	12: 11,332,431 (GRCm39)	D211G	probably damaging	Het
Sox6	A	T	7: 115,149,386 (GRCm39)	Y371*	probably null	Het
Srcap	G	A	7: 127,156,785 (GRCm39)		probably null	Het
Stard5	T	A	7: 83,282,428 (GRCm39)	D80E	probably damaging	Het
Supv3l1	C	T	10: 62,268,136 (GRCm39)	V570M	probably damaging	Het
Tacc2	T	A	7: 130,224,990 (GRCm39)	H558Q	probably benign	Het
Tas2r120	T	A	6: 132,634,446 (GRCm39)	M176K	possibly damaging	Het
Tmem135	A	T	7: 88,814,382 (GRCm39)		probably null	Het
Trim35	T	C	14: 66,534,715 (GRCm39)	V66A	possibly damaging	Het
Tspan12	A	G	6: 21,772,698 (GRCm39)	S284P	probably benign	Het
Ttll3	A	T	6: 113,378,382 (GRCm39)	K257*	probably null	Het
Uggt1	C	A	1: 36,283,141 (GRCm39)		probably benign	Het
Vmn2r7	T	A	3: 64,623,745 (GRCm39)	I283F	probably damaging	Het
Wdfy2	T	G	14: 63,192,334 (GRCm39)	H363Q	probably damaging	Het
Wdr4	T	A	17: 31,729,554 (GRCm39)	K95N	probably damaging	Het
Zfp141	T	C	7: 42,126,620 (GRCm39)	N91S	possibly damaging	Het
Zfp383	C	T	7: 29,614,695 (GRCm39)	R317*	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
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'- ACCCTTGAGTCTATCCCCAG -3'
(R):5'- GGACCCTTAAACTTGCCAGAC -3'

Sequencing Primer
(F):5'- CTGAGCCAGAACCAGCAGG -3'
(R):5'- CACACTGTCAAGGACACAGAGG -3'

Posted On

2016-09-06