Incidental Mutation 'IGL00693:Vsig8'
| ID |
14822 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vsig8
|
| Ensembl Gene |
ENSMUSG00000049598 |
| Gene Name |
V-set and immunoglobulin domain containing 8 |
| Synonyms |
EG240916 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00693
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
172383505-172391284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 172389156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 136
(V136A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061835]
[ENSMUST00000177086]
|
| AlphaFold |
Q6P3A4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061835
AA Change: V248A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000058008
Gene: ENSMUSG00000049598
AA Change: V248A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IG
|
29 |
142 |
1.22e-7 |
SMART |
|
IGc2
|
157 |
245 |
3.3e-4 |
SMART |
|
transmembrane domain
|
264 |
286 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169111
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177086
AA Change: V136A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134997
Gene: ENSMUSG00000049598
AA Change: V136A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG_like
|
1 |
30 |
5e-11 |
BLAST |
|
IGc2
|
45 |
133 |
3.3e-4 |
SMART |
|
transmembrane domain
|
152 |
174 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a7 |
G |
A |
19: 20,677,410 (GRCm39) |
P404S |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,106,696 (GRCm39) |
|
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,644,885 (GRCm39) |
V4A |
probably benign |
Het |
| Col4a3 |
T |
C |
1: 82,675,475 (GRCm39) |
Y1176H |
unknown |
Het |
| Dyrk3 |
T |
C |
1: 131,064,074 (GRCm39) |
I3V |
possibly damaging |
Het |
| Gpsm3 |
A |
G |
17: 34,810,247 (GRCm39) |
E149G |
probably damaging |
Het |
| Hsd3b6 |
A |
C |
3: 98,713,594 (GRCm39) |
L235R |
probably damaging |
Het |
| Ipo11 |
A |
T |
13: 107,033,768 (GRCm39) |
F238Y |
probably damaging |
Het |
| Kcnh7 |
C |
T |
2: 62,564,598 (GRCm39) |
R887K |
probably benign |
Het |
| Lrrc8a |
T |
C |
2: 30,145,327 (GRCm39) |
V47A |
probably benign |
Het |
| Lsm14b |
A |
G |
2: 179,674,419 (GRCm39) |
N241D |
probably damaging |
Het |
| Mtss1 |
T |
A |
15: 58,815,973 (GRCm39) |
D529V |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,475,969 (GRCm39) |
S283T |
probably benign |
Het |
| Odad2 |
C |
T |
18: 7,211,504 (GRCm39) |
G790D |
probably damaging |
Het |
| Pno1 |
A |
G |
11: 17,161,317 (GRCm39) |
L64P |
probably benign |
Het |
| Pramel28 |
G |
T |
4: 143,692,392 (GRCm39) |
P203Q |
possibly damaging |
Het |
| Proc |
A |
G |
18: 32,256,566 (GRCm39) |
V367A |
probably benign |
Het |
| Sez6l |
A |
T |
5: 112,569,879 (GRCm39) |
I964N |
probably damaging |
Het |
| Speer2 |
A |
T |
16: 69,657,406 (GRCm39) |
M79K |
probably benign |
Het |
| Tef |
T |
C |
15: 81,699,384 (GRCm39) |
S131P |
probably benign |
Het |
| Ubr2 |
T |
C |
17: 47,283,907 (GRCm39) |
T581A |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,665,884 (GRCm39) |
D1045E |
probably benign |
Het |
| Wee1 |
A |
T |
7: 109,734,060 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Vsig8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02413:Vsig8
|
APN |
1 |
172,387,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03172:Vsig8
|
APN |
1 |
172,387,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0042:Vsig8
|
UTSW |
1 |
172,387,925 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0042:Vsig8
|
UTSW |
1 |
172,387,925 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0280:Vsig8
|
UTSW |
1 |
172,389,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1615:Vsig8
|
UTSW |
1 |
172,387,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2078:Vsig8
|
UTSW |
1 |
172,390,856 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4425:Vsig8
|
UTSW |
1 |
172,390,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4547:Vsig8
|
UTSW |
1 |
172,388,163 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4822:Vsig8
|
UTSW |
1 |
172,387,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4890:Vsig8
|
UTSW |
1 |
172,389,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5323:Vsig8
|
UTSW |
1 |
172,388,244 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5430:Vsig8
|
UTSW |
1 |
172,387,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6527:Vsig8
|
UTSW |
1 |
172,387,925 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6766:Vsig8
|
UTSW |
1 |
172,388,143 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7276:Vsig8
|
UTSW |
1 |
172,390,850 (GRCm39) |
nonsense |
probably null |
|
|
R8230:Vsig8
|
UTSW |
1 |
172,389,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Vsig8
|
UTSW |
1 |
172,388,340 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0062:Vsig8
|
UTSW |
1 |
172,387,825 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Z1177:Vsig8
|
UTSW |
1 |
172,390,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation