Incidental Mutation 'IGL01313:Sv2c'
| ID |
73743 |
| 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 # |
IGL01313
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
96091102-96269085 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 96224797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 171
(V171M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161263]
[ENSMUST00000182289]
|
| AlphaFold |
Q69ZS6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161263
AA Change: V171M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124473
Gene: ENSMUSG00000051111
AA Change: V171M
| 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 |
probably damaging
Transcript: ENSMUST00000182289
AA Change: V171M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138317
Gene: ENSMUSG00000051111
AA Change: V171M
| 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 |
|
| Meta Mutation Damage Score |
0.6329 |
| 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 |
|---|
| A2m |
T |
C |
6: 121,621,969 (GRCm39) |
|
probably null |
Het |
| Abca7 |
T |
A |
10: 79,838,957 (GRCm39) |
|
probably benign |
Het |
| Acvr1c |
T |
G |
2: 58,205,986 (GRCm39) |
Q41H |
probably benign |
Het |
| Apob |
A |
T |
12: 8,050,898 (GRCm39) |
N1041Y |
probably damaging |
Het |
| Asb5 |
A |
T |
8: 55,038,798 (GRCm39) |
|
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,650,516 (GRCm39) |
E835V |
probably benign |
Het |
| Ccdc73 |
A |
T |
2: 104,737,972 (GRCm39) |
M23L |
probably benign |
Het |
| Cep170b |
G |
A |
12: 112,702,086 (GRCm39) |
R293H |
probably damaging |
Het |
| Chd8 |
C |
A |
14: 52,448,032 (GRCm39) |
L316F |
probably damaging |
Het |
| Cldn13 |
T |
C |
5: 134,944,114 (GRCm39) |
S24G |
possibly damaging |
Het |
| Cnot10 |
A |
T |
9: 114,460,923 (GRCm39) |
N82K |
probably benign |
Het |
| Colec10 |
G |
A |
15: 54,323,157 (GRCm39) |
V127M |
probably damaging |
Het |
| Cyp2d40 |
T |
C |
15: 82,645,478 (GRCm39) |
S130G |
unknown |
Het |
| Ddx60 |
T |
A |
8: 62,435,560 (GRCm39) |
H904Q |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,252,362 (GRCm39) |
S435T |
probably benign |
Het |
| Dnajc2 |
T |
C |
5: 21,979,974 (GRCm39) |
N177S |
possibly damaging |
Het |
| F5 |
G |
T |
1: 164,021,181 (GRCm39) |
V1219L |
probably benign |
Het |
| Fam47c |
G |
T |
X: 77,781,454 (GRCm39) |
R12L |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,061,350 (GRCm39) |
I4311T |
possibly damaging |
Het |
| Fbf1 |
A |
G |
11: 116,041,907 (GRCm39) |
V545A |
probably benign |
Het |
| Fhod3 |
G |
A |
18: 25,153,777 (GRCm39) |
E420K |
probably damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,578,589 (GRCm39) |
K162E |
probably damaging |
Het |
| Insl6 |
C |
A |
19: 29,298,953 (GRCm39) |
S153I |
possibly damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,141,708 (GRCm39) |
Y317C |
probably damaging |
Het |
| Lzts1 |
C |
A |
8: 69,591,759 (GRCm39) |
V130L |
probably benign |
Het |
| Mill1 |
T |
C |
7: 17,998,558 (GRCm39) |
I256T |
possibly damaging |
Het |
| Mycbpap |
A |
C |
11: 94,400,145 (GRCm39) |
|
probably null |
Het |
| Or6c65 |
A |
G |
10: 129,603,464 (GRCm39) |
Y33C |
probably damaging |
Het |
| Pdia6 |
T |
A |
12: 17,320,542 (GRCm39) |
|
probably benign |
Het |
| Pik3c2b |
C |
T |
1: 132,999,369 (GRCm39) |
Q406* |
probably null |
Het |
| Pkhd1 |
C |
A |
1: 20,271,248 (GRCm39) |
G3102C |
probably damaging |
Het |
| Polr3b |
T |
A |
10: 84,561,607 (GRCm39) |
I1122N |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,653,371 (GRCm39) |
|
probably null |
Het |
| Samhd1 |
A |
G |
2: 156,958,321 (GRCm39) |
I300T |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,662,361 (GRCm39) |
I609F |
unknown |
Het |
| Slc27a3 |
G |
T |
3: 90,293,861 (GRCm39) |
T541K |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,915,075 (GRCm39) |
V2154A |
probably damaging |
Het |
| Thoc1 |
A |
T |
18: 9,987,158 (GRCm39) |
I433F |
probably benign |
Het |
| Thoc2 |
A |
T |
X: 40,916,223 (GRCm39) |
V865D |
probably benign |
Het |
| Trdn |
C |
A |
10: 33,076,216 (GRCm39) |
P282Q |
probably damaging |
Het |
| Twsg1 |
C |
A |
17: 66,255,699 (GRCm39) |
C25F |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,423,206 (GRCm39) |
I3155N |
probably damaging |
Het |
| Vmn2r106 |
T |
A |
17: 20,498,651 (GRCm39) |
Q420L |
probably damaging |
Het |
| Vmn2r109 |
C |
T |
17: 20,770,419 (GRCm39) |
R523K |
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 |
|
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 |
|
IGL03145:Sv2c
|
APN |
13 |
96,125,606 (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 |
2013-10-07 |
Incidental Mutation