Incidental Mutation 'R5067:Syt7'
| ID |
388395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt7
|
| Ensembl Gene |
ENSMUSG00000024743 |
| Gene Name |
synaptotagmin VII |
| Synonyms |
B230112P13Rik |
| MMRRC Submission |
042657-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5067 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
10366454-10430544 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10420222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 382
(V382A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073899]
[ENSMUST00000076968]
[ENSMUST00000169121]
[ENSMUST00000223586]
[ENSMUST00000224135]
|
| AlphaFold |
Q9R0N7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073899
AA Change: V218A
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000073560
Gene: ENSMUSG00000024743
AA Change: V218A
| 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: V426A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000076234
Gene: ENSMUSG00000024743
AA Change: V426A
| 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 |
possibly damaging
Transcript: ENSMUST00000169121
AA Change: V382A
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000127973
Gene: ENSMUSG00000024743
AA Change: V382A
| 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: V262A
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224135
AA Change: V333A
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225861
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
100% (54/54) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
T |
C |
12: 112,748,936 (GRCm39) |
N304D |
probably benign |
Het |
| Akr7a5 |
T |
C |
4: 139,038,333 (GRCm39) |
S90P |
probably damaging |
Het |
| Aplnr |
T |
A |
2: 84,967,128 (GRCm39) |
V51E |
probably damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,884,848 (GRCm39) |
H776Q |
probably damaging |
Het |
| Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
| Bsn |
T |
A |
9: 107,989,152 (GRCm39) |
Y2200F |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,925,043 (GRCm39) |
D268E |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,616,782 (GRCm39) |
N113D |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,902,628 (GRCm39) |
N175D |
probably benign |
Het |
| Cfap61 |
A |
G |
2: 145,943,956 (GRCm39) |
D134G |
probably damaging |
Het |
| Clybl |
A |
T |
14: 122,616,701 (GRCm39) |
I239L |
possibly damaging |
Het |
| Defb11 |
A |
T |
8: 22,396,352 (GRCm39) |
F15Y |
probably damaging |
Het |
| Dlc1 |
A |
G |
8: 37,051,647 (GRCm39) |
S695P |
probably benign |
Het |
| Fbxl5 |
T |
C |
5: 43,916,114 (GRCm39) |
K432E |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,215,098 (GRCm39) |
E2226G |
probably benign |
Het |
| Gm10337 |
T |
A |
15: 102,412,306 (GRCm39) |
|
probably null |
Het |
| Gm5828 |
A |
G |
1: 16,839,516 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8674 |
A |
T |
13: 50,053,870 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv6-5 |
T |
C |
12: 114,380,191 (GRCm39) |
|
probably null |
Het |
| Insyn2a |
A |
T |
7: 134,520,284 (GRCm39) |
V82E |
probably benign |
Het |
| Ints14 |
C |
A |
9: 64,871,694 (GRCm39) |
L11M |
probably damaging |
Het |
| Kcp |
G |
A |
6: 29,492,107 (GRCm39) |
P153L |
probably benign |
Het |
| Lrrk2 |
A |
C |
15: 91,649,993 (GRCm39) |
N1710T |
probably benign |
Het |
| Marchf10 |
T |
A |
11: 105,280,933 (GRCm39) |
T451S |
possibly damaging |
Het |
| Mcf2l |
T |
G |
8: 12,965,959 (GRCm39) |
|
probably benign |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Neurod2 |
T |
A |
11: 98,218,063 (GRCm39) |
H367L |
possibly damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,069,875 (GRCm39) |
Q681L |
probably damaging |
Het |
| Nkx3-2 |
T |
C |
5: 41,919,220 (GRCm39) |
N256S |
probably damaging |
Het |
| Ntng1 |
G |
A |
3: 110,042,661 (GRCm39) |
T55M |
possibly damaging |
Het |
| Snd1 |
C |
A |
6: 28,888,239 (GRCm39) |
N891K |
probably damaging |
Het |
| Trim72 |
T |
C |
7: 127,609,139 (GRCm39) |
S314P |
possibly damaging |
Het |
| Ttc41 |
T |
C |
10: 86,580,408 (GRCm39) |
S785P |
probably damaging |
Het |
| Ube2z |
C |
T |
11: 95,953,835 (GRCm39) |
V128I |
probably benign |
Het |
| Vps26c |
T |
A |
16: 94,327,263 (GRCm39) |
|
probably benign |
Het |
| Wdr43 |
T |
C |
17: 71,933,849 (GRCm39) |
Y149H |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,153,682 (GRCm39) |
V248E |
probably damaging |
Het |
| Zcchc2 |
A |
T |
1: 105,958,694 (GRCm39) |
N1055I |
probably damaging |
Het |
| Zdhhc23 |
T |
C |
16: 43,794,134 (GRCm39) |
Y180C |
probably benign |
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 |
|
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'- TGGCCCTTCAGAAAGTGCTAC -3'
(R):5'- TTCAGTTAAGGGACTACAGGGG -3'
Sequencing Primer
(F):5'- GAGGTTATAAGGTCAGCCCCACTC -3'
(R):5'- ACTACAGGGGGCCTTACACTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation