Incidental Mutation 'IGL01873:Gsg1l'
| ID |
178784 |
| 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 # |
IGL01873
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
125477592-125681583 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125557615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 171
(V171A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073935]
|
| AlphaFold |
D3Z7H4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073935
AA Change: V171A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000073591
Gene: ENSMUSG00000046182
AA Change: V171A
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Chd9 |
A |
G |
8: 91,660,395 (GRCm39) |
T452A |
probably benign |
Het |
| Coq8a |
T |
A |
1: 180,006,542 (GRCm39) |
Q115L |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,813,378 (GRCm39) |
E2326G |
probably damaging |
Het |
| Cyp2c69 |
A |
G |
19: 39,869,693 (GRCm39) |
|
probably benign |
Het |
| Dennd5b |
A |
T |
6: 148,946,027 (GRCm39) |
M528K |
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Gm6665 |
T |
C |
18: 31,953,355 (GRCm39) |
S38G |
probably damaging |
Het |
| Ighv5-2 |
A |
T |
12: 113,542,350 (GRCm39) |
S42T |
probably benign |
Het |
| Itch |
C |
T |
2: 155,010,670 (GRCm39) |
T46I |
possibly damaging |
Het |
| Itsn2 |
T |
G |
12: 4,682,366 (GRCm39) |
|
probably benign |
Het |
| Lime1 |
T |
C |
2: 181,024,667 (GRCm39) |
V107A |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,571,195 (GRCm39) |
S50P |
possibly damaging |
Het |
| Myo5b |
T |
A |
18: 74,713,467 (GRCm39) |
V104E |
probably damaging |
Het |
| Nckap1 |
A |
T |
2: 80,383,729 (GRCm39) |
I145K |
possibly damaging |
Het |
| Ppp4r3a |
A |
T |
12: 101,008,094 (GRCm39) |
I794N |
possibly damaging |
Het |
| Psapl1 |
C |
A |
5: 36,362,569 (GRCm39) |
P387Q |
possibly damaging |
Het |
| Ripk1 |
T |
A |
13: 34,193,707 (GRCm39) |
L23Q |
probably damaging |
Het |
| Srrm4 |
G |
T |
5: 116,729,527 (GRCm39) |
|
probably benign |
Het |
| St6galnac1 |
T |
A |
11: 116,657,437 (GRCm39) |
T376S |
probably damaging |
Het |
| Tmem74 |
T |
C |
15: 43,730,782 (GRCm39) |
D87G |
probably benign |
Het |
| Trav19 |
A |
G |
14: 54,083,173 (GRCm39) |
R83G |
probably benign |
Het |
| Tubgcp4 |
T |
C |
2: 121,018,665 (GRCm39) |
|
probably null |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfat |
T |
C |
15: 68,096,744 (GRCm39) |
N23S |
probably benign |
Het |
|
| Other mutations in Gsg1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00755:Gsg1l
|
APN |
7 |
125,522,598 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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 |
2014-05-07 |
Incidental Mutation