Incidental Mutation 'IGL00755:Gsg1l'
| ID |
12654 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gsg1l
|
| Ensembl Gene |
ENSMUSG00000046182 |
| Gene Name |
GSG1-like |
| Synonyms |
G630023A01Rik, C230098I05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00755
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
125477592-125681583 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125522598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 210
(F210S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073935]
|
| AlphaFold |
D3Z7H4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073935
AA Change: F210S
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000073591
Gene: ENSMUSG00000046182
AA Change: F210S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GSG-1
|
5 |
122 |
4.9e-46 |
PFAM |
|
Pfam:PMP22_Claudin
|
8 |
227 |
8.5e-12 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,492,102 (GRCm39) |
Y4381C |
possibly damaging |
Het |
| Card6 |
G |
A |
15: 5,128,423 (GRCm39) |
T991I |
possibly damaging |
Het |
| Cd163 |
A |
G |
6: 124,295,616 (GRCm39) |
N684S |
possibly damaging |
Het |
| Cep290 |
A |
G |
10: 100,366,966 (GRCm39) |
T1106A |
probably damaging |
Het |
| Cplx4 |
T |
A |
18: 66,090,166 (GRCm39) |
|
probably benign |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,189,417 (GRCm39) |
|
probably null |
Het |
| Dock8 |
A |
G |
19: 25,028,873 (GRCm39) |
K26E |
probably benign |
Het |
| Fancl |
G |
A |
11: 26,420,916 (GRCm39) |
V349I |
probably benign |
Het |
| Mboat2 |
T |
A |
12: 25,007,645 (GRCm39) |
V419E |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,432,057 (GRCm39) |
V2327A |
possibly damaging |
Het |
| Ndnf |
C |
T |
6: 65,680,242 (GRCm39) |
P174S |
probably damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,757,447 (GRCm39) |
D228V |
probably damaging |
Het |
| Prps2 |
A |
T |
X: 166,157,138 (GRCm39) |
I56N |
possibly damaging |
Het |
| Reln |
A |
G |
5: 22,265,378 (GRCm39) |
V438A |
probably damaging |
Het |
| Rmdn1 |
T |
A |
4: 19,580,401 (GRCm39) |
N42K |
probably benign |
Het |
| Sass6 |
G |
A |
3: 116,411,977 (GRCm39) |
E312K |
probably damaging |
Het |
| Scrn1 |
T |
A |
6: 54,497,694 (GRCm39) |
D299V |
possibly damaging |
Het |
| Slk |
T |
A |
19: 47,597,449 (GRCm39) |
C86S |
probably damaging |
Het |
| Veph1 |
C |
T |
3: 66,162,431 (GRCm39) |
E76K |
probably damaging |
Het |
| Zfp282 |
C |
T |
6: 47,857,324 (GRCm39) |
P186S |
probably damaging |
Het |
|
| Other mutations in Gsg1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01873:Gsg1l
|
APN |
7 |
125,557,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02148:Gsg1l
|
APN |
7 |
125,522,671 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03076:Gsg1l
|
APN |
7 |
125,522,665 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0456:Gsg1l
|
UTSW |
7 |
125,522,682 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0513:Gsg1l
|
UTSW |
7 |
125,619,795 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1771:Gsg1l
|
UTSW |
7 |
125,557,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1827:Gsg1l
|
UTSW |
7 |
125,509,369 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3084:Gsg1l
|
UTSW |
7 |
125,490,852 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3085:Gsg1l
|
UTSW |
7 |
125,490,852 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3086:Gsg1l
|
UTSW |
7 |
125,490,852 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4607:Gsg1l
|
UTSW |
7 |
125,557,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4608:Gsg1l
|
UTSW |
7 |
125,557,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Gsg1l
|
UTSW |
7 |
125,490,841 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6995:Gsg1l
|
UTSW |
7 |
125,522,658 (GRCm39) |
missense |
probably damaging |
0.96 |
|
RF016:Gsg1l
|
UTSW |
7 |
125,619,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Gsg1l
|
UTSW |
7 |
125,681,414 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation