Incidental Mutation 'IGL03145:Sv2c'
| ID |
410885 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sv2c
|
| Ensembl Gene |
ENSMUSG00000051111 |
| Gene Name |
synaptic vesicle glycoprotein 2c |
| Synonyms |
4930527L09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL03145
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
96091102-96269085 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96125606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 377
(V377A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161263]
[ENSMUST00000182289]
|
| AlphaFold |
Q69ZS6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161263
AA Change: V377A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124473
Gene: ENSMUSG00000051111
AA Change: V377A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
61 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
117 |
428 |
9.1e-31 |
PFAM |
|
Pfam:MFS_1
|
154 |
470 |
5e-27 |
PFAM |
|
Pfam:Pentapeptide_4
|
496 |
573 |
4.8e-12 |
PFAM |
|
Pfam:MFS_1
|
564 |
725 |
1.5e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182180
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182289
AA Change: V377A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138317
Gene: ENSMUSG00000051111
AA Change: V377A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
61 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
119 |
427 |
2.2e-30 |
PFAM |
|
Pfam:MFS_1
|
154 |
470 |
5e-27 |
PFAM |
|
Pfam:Pentapeptide_4
|
496 |
571 |
6.2e-15 |
PFAM |
|
transmembrane domain
|
581 |
603 |
N/A |
INTRINSIC |
|
transmembrane domain
|
610 |
632 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220740
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypoactivity and increased anxiety-related response. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, other(2) Gene trapped(1) |
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N01Rik |
A |
G |
10: 21,469,337 (GRCm39) |
D17G |
probably damaging |
Het |
| Adam39 |
C |
T |
8: 41,277,695 (GRCm39) |
P29S |
probably benign |
Het |
| Afap1l1 |
T |
C |
18: 61,874,880 (GRCm39) |
K434E |
possibly damaging |
Het |
| Akap7 |
T |
C |
10: 25,115,565 (GRCm39) |
T187A |
probably damaging |
Het |
| Atp7b |
A |
C |
8: 22,508,159 (GRCm39) |
I479S |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,212,593 (GRCm39) |
E1606V |
probably damaging |
Het |
| Cnga3 |
A |
G |
1: 37,300,755 (GRCm39) |
S530G |
probably damaging |
Het |
| Col13a1 |
A |
G |
10: 61,727,040 (GRCm39) |
Y228H |
probably benign |
Het |
| Cybb |
C |
A |
X: 9,319,892 (GRCm39) |
E203* |
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,018,037 (GRCm39) |
M3594K |
probably damaging |
Het |
| Galnt14 |
C |
A |
17: 73,811,903 (GRCm39) |
Q439H |
possibly damaging |
Het |
| Gck |
T |
A |
11: 5,859,093 (GRCm39) |
D158V |
probably damaging |
Het |
| Gm5624 |
A |
G |
14: 44,798,222 (GRCm39) |
M85T |
possibly damaging |
Het |
| Hgsnat |
A |
T |
8: 26,436,480 (GRCm39) |
N557K |
probably damaging |
Het |
| Idua |
A |
G |
5: 108,829,362 (GRCm39) |
T388A |
probably benign |
Het |
| Itgam |
A |
G |
7: 127,712,191 (GRCm39) |
D692G |
probably benign |
Het |
| Lrrtm3 |
A |
G |
10: 63,924,799 (GRCm39) |
Y123H |
probably benign |
Het |
| Mccc1 |
C |
T |
3: 36,022,595 (GRCm39) |
R566H |
probably benign |
Het |
| Myh7 |
A |
T |
14: 55,220,802 (GRCm39) |
L999Q |
probably damaging |
Het |
| Myo6 |
T |
G |
9: 80,207,947 (GRCm39) |
Y1146* |
probably null |
Het |
| Nr3c1 |
C |
A |
18: 39,619,313 (GRCm39) |
G325W |
probably damaging |
Het |
| Or2r11 |
A |
G |
6: 42,437,434 (GRCm39) |
V173A |
probably benign |
Het |
| Or5p72 |
T |
A |
7: 108,021,806 (GRCm39) |
H9Q |
probably benign |
Het |
| Or7e170 |
T |
A |
9: 19,794,735 (GRCm39) |
I289F |
possibly damaging |
Het |
| Phf1 |
T |
C |
17: 27,153,344 (GRCm39) |
|
probably null |
Het |
| Piezo1 |
T |
C |
8: 123,209,660 (GRCm39) |
T2349A |
probably benign |
Het |
| Pih1d1 |
T |
C |
7: 44,808,545 (GRCm39) |
|
probably null |
Het |
| Pold3 |
A |
G |
7: 99,745,719 (GRCm39) |
S145P |
probably damaging |
Het |
| Prpf38b |
G |
T |
3: 108,811,261 (GRCm39) |
|
probably benign |
Het |
| Racgap1 |
A |
T |
15: 99,521,521 (GRCm39) |
M545K |
probably benign |
Het |
| Safb |
T |
C |
17: 56,912,287 (GRCm39) |
Y802H |
probably damaging |
Het |
| Serpina3f |
A |
T |
12: 104,183,716 (GRCm39) |
M193L |
probably benign |
Het |
| Slc43a2 |
G |
A |
11: 75,459,263 (GRCm39) |
V432M |
probably benign |
Het |
| Spata2l |
T |
C |
8: 123,960,075 (GRCm39) |
R405G |
possibly damaging |
Het |
| Tbc1d15 |
C |
T |
10: 115,038,421 (GRCm39) |
M597I |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,492,175 (GRCm39) |
R1036S |
probably damaging |
Het |
| Tjp3 |
A |
G |
10: 81,119,522 (GRCm39) |
Y15H |
probably benign |
Het |
| Tkt |
A |
G |
14: 30,282,645 (GRCm39) |
|
probably benign |
Het |
| Tpm2 |
T |
C |
4: 43,519,447 (GRCm39) |
E145G |
probably damaging |
Het |
| Trib2 |
G |
A |
12: 15,859,932 (GRCm39) |
H110Y |
probably damaging |
Het |
| Trim60 |
A |
T |
8: 65,453,224 (GRCm39) |
S342T |
probably damaging |
Het |
| Ube2o |
T |
C |
11: 116,434,835 (GRCm39) |
E542G |
probably damaging |
Het |
| Usp36 |
T |
C |
11: 118,170,067 (GRCm39) |
D218G |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,227,846 (GRCm39) |
L1921P |
probably damaging |
Het |
| Zfp983 |
G |
T |
17: 21,877,924 (GRCm39) |
M42I |
probably damaging |
Het |
|
| Other mutations in Sv2c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00309:Sv2c
|
APN |
13 |
96,184,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01313:Sv2c
|
APN |
13 |
96,224,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02710:Sv2c
|
APN |
13 |
96,125,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02990:Sv2c
|
APN |
13 |
96,224,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D4043:Sv2c
|
UTSW |
13 |
96,224,989 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0390:Sv2c
|
UTSW |
13 |
96,225,216 (GRCm39) |
missense |
probably benign |
|
|
R0849:Sv2c
|
UTSW |
13 |
96,126,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0907:Sv2c
|
UTSW |
13 |
96,224,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1177:Sv2c
|
UTSW |
13 |
96,126,271 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1840:Sv2c
|
UTSW |
13 |
96,118,352 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1865:Sv2c
|
UTSW |
13 |
96,113,283 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1959:Sv2c
|
UTSW |
13 |
96,113,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2440:Sv2c
|
UTSW |
13 |
96,185,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4007:Sv2c
|
UTSW |
13 |
96,123,341 (GRCm39) |
splice site |
probably benign |
|
|
R4197:Sv2c
|
UTSW |
13 |
96,114,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4697:Sv2c
|
UTSW |
13 |
96,122,526 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4719:Sv2c
|
UTSW |
13 |
96,123,319 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4822:Sv2c
|
UTSW |
13 |
96,122,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5237:Sv2c
|
UTSW |
13 |
96,118,391 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5452:Sv2c
|
UTSW |
13 |
96,114,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5531:Sv2c
|
UTSW |
13 |
96,097,886 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5756:Sv2c
|
UTSW |
13 |
96,122,475 (GRCm39) |
missense |
probably benign |
|
|
R5982:Sv2c
|
UTSW |
13 |
96,112,571 (GRCm39) |
nonsense |
probably null |
|
|
R6220:Sv2c
|
UTSW |
13 |
96,113,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6511:Sv2c
|
UTSW |
13 |
96,185,033 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6520:Sv2c
|
UTSW |
13 |
96,123,229 (GRCm39) |
missense |
probably benign |
|
|
R7001:Sv2c
|
UTSW |
13 |
96,118,461 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7073:Sv2c
|
UTSW |
13 |
96,224,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7116:Sv2c
|
UTSW |
13 |
96,113,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7261:Sv2c
|
UTSW |
13 |
96,224,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7374:Sv2c
|
UTSW |
13 |
96,125,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7423:Sv2c
|
UTSW |
13 |
96,185,056 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7626:Sv2c
|
UTSW |
13 |
96,122,451 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7727:Sv2c
|
UTSW |
13 |
96,113,203 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7767:Sv2c
|
UTSW |
13 |
96,126,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7818:Sv2c
|
UTSW |
13 |
96,123,328 (GRCm39) |
nonsense |
probably null |
|
|
R7831:Sv2c
|
UTSW |
13 |
96,113,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7991:Sv2c
|
UTSW |
13 |
96,224,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8137:Sv2c
|
UTSW |
13 |
96,225,171 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8254:Sv2c
|
UTSW |
13 |
96,225,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9192:Sv2c
|
UTSW |
13 |
96,224,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9203:Sv2c
|
UTSW |
13 |
96,224,745 (GRCm39) |
nonsense |
probably null |
|
|
R9278:Sv2c
|
UTSW |
13 |
96,112,589 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9547:Sv2c
|
UTSW |
13 |
96,185,008 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9585:Sv2c
|
UTSW |
13 |
96,122,466 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Sv2c
|
UTSW |
13 |
96,112,605 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation