Incidental Mutation 'IGL03233:Gpr108'
| ID |
413964 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpr108
|
| Ensembl Gene |
ENSMUSG00000005823 |
| Gene Name |
G protein-coupled receptor 108 |
| Synonyms |
1810015L19Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03233
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
57541635-57555446 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57552042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 123
(I123F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005975
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005975]
[ENSMUST00000019631]
[ENSMUST00000224152]
[ENSMUST00000224885]
[ENSMUST00000224947]
[ENSMUST00000225664]
|
| AlphaFold |
Q91WD0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005975
AA Change: I123F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000005975
Gene: ENSMUSG00000005823
AA Change: I123F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
103 |
N/A |
INTRINSIC |
|
Pfam:Lung_7-TM_R
|
240 |
529 |
2.3e-98 |
PFAM |
|
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019631
|
| SMART Domains |
Protein: ENSMUSP00000019631
Gene: ENSMUSG00000019487
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
1 |
94 |
9.95e-29 |
SMART |
|
coiled coil region
|
117 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
318 |
N/A |
INTRINSIC |
|
PDB:2KE4|A
|
332 |
425 |
3e-35 |
PDB |
|
low complexity region
|
433 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
458 |
467 |
N/A |
INTRINSIC |
|
SH3
|
489 |
546 |
2.44e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224152
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224885
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224947
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225664
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Targeted, other(2) Gene trapped(1)
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
T |
C |
4: 86,260,357 (GRCm39) |
F856S |
probably damaging |
Het |
| Ak7 |
A |
G |
12: 105,727,739 (GRCm39) |
D457G |
probably damaging |
Het |
| Ankrd26 |
G |
T |
6: 118,512,107 (GRCm39) |
|
probably null |
Het |
| Ano5 |
C |
A |
7: 51,220,116 (GRCm39) |
P405T |
probably damaging |
Het |
| Asah2 |
T |
A |
19: 32,032,031 (GRCm39) |
N46I |
probably benign |
Het |
| Atg4c |
A |
T |
4: 99,117,740 (GRCm39) |
Y343F |
probably benign |
Het |
| Cab39 |
T |
A |
1: 85,770,044 (GRCm39) |
M175K |
probably benign |
Het |
| Cadps2 |
T |
C |
6: 23,263,600 (GRCm39) |
E1257G |
probably benign |
Het |
| Ces1d |
A |
G |
8: 93,921,707 (GRCm39) |
Y19H |
probably benign |
Het |
| Cst6 |
T |
C |
19: 5,399,289 (GRCm39) |
D25G |
probably damaging |
Het |
| Cyp4a30b |
A |
T |
4: 115,316,167 (GRCm39) |
T298S |
probably benign |
Het |
| Dgkk |
T |
C |
X: 6,770,077 (GRCm39) |
L352P |
probably damaging |
Het |
| Dnai7 |
A |
T |
6: 145,127,611 (GRCm39) |
Y433N |
probably damaging |
Het |
| Dync2h1 |
A |
C |
9: 7,101,525 (GRCm39) |
F482V |
possibly damaging |
Het |
| Esco1 |
A |
G |
18: 10,574,877 (GRCm39) |
W208R |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,235,449 (GRCm39) |
D676G |
probably benign |
Het |
| Foxp3 |
T |
C |
X: 7,453,662 (GRCm39) |
|
probably benign |
Het |
| Gsdmc4 |
A |
T |
15: 63,774,709 (GRCm39) |
V24E |
probably damaging |
Het |
| Jam3 |
C |
A |
9: 27,013,217 (GRCm39) |
V118F |
probably damaging |
Het |
| Kif23 |
T |
A |
9: 61,833,735 (GRCm39) |
I489F |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,614,095 (GRCm39) |
V1288D |
probably damaging |
Het |
| Mark2 |
G |
T |
19: 7,262,091 (GRCm39) |
H308N |
possibly damaging |
Het |
| Mms19 |
T |
C |
19: 41,935,352 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
T |
2: 52,198,313 (GRCm39) |
I477N |
possibly damaging |
Het |
| Npm1 |
G |
T |
11: 33,106,717 (GRCm39) |
Q204K |
probably benign |
Het |
| Nsun5 |
G |
A |
5: 135,404,299 (GRCm39) |
V369M |
probably damaging |
Het |
| Or7a39 |
C |
A |
10: 78,715,406 (GRCm39) |
Y133* |
probably null |
Het |
| Pcdhb13 |
T |
A |
18: 37,577,318 (GRCm39) |
N565K |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,258,924 (GRCm39) |
F1155L |
possibly damaging |
Het |
| Pus10 |
T |
A |
11: 23,662,241 (GRCm39) |
W304R |
probably damaging |
Het |
| Rab32 |
G |
A |
10: 10,422,057 (GRCm39) |
Q221* |
probably null |
Het |
| Rlf |
A |
G |
4: 121,039,797 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
A |
T |
16: 72,767,081 (GRCm39) |
I418F |
probably damaging |
Het |
| Slc44a2 |
T |
C |
9: 21,259,918 (GRCm39) |
I642T |
possibly damaging |
Het |
| Ston2 |
T |
A |
12: 91,614,627 (GRCm39) |
T594S |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,229,726 (GRCm39) |
T2802A |
unknown |
Het |
| Tshz3 |
T |
A |
7: 36,469,504 (GRCm39) |
Y498N |
probably damaging |
Het |
| Zfp280b |
T |
A |
10: 75,875,603 (GRCm39) |
I494N |
probably damaging |
Het |
| Zfp281 |
A |
G |
1: 136,554,567 (GRCm39) |
Q515R |
possibly damaging |
Het |
|
| Other mutations in Gpr108 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01982:Gpr108
|
APN |
17 |
57,544,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02486:Gpr108
|
APN |
17 |
57,542,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02810:Gpr108
|
APN |
17 |
57,549,742 (GRCm39) |
missense |
probably benign |
0.39 |
|
1mM(1):Gpr108
|
UTSW |
17 |
57,552,352 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02799:Gpr108
|
UTSW |
17 |
57,544,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4468001:Gpr108
|
UTSW |
17 |
57,554,563 (GRCm39) |
missense |
probably null |
0.09 |
|
R0391:Gpr108
|
UTSW |
17 |
57,550,101 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0469:Gpr108
|
UTSW |
17 |
57,542,358 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0510:Gpr108
|
UTSW |
17 |
57,542,358 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0613:Gpr108
|
UTSW |
17 |
57,545,174 (GRCm39) |
splice site |
probably benign |
|
|
R1034:Gpr108
|
UTSW |
17 |
57,542,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1141:Gpr108
|
UTSW |
17 |
57,544,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1748:Gpr108
|
UTSW |
17 |
57,543,217 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2000:Gpr108
|
UTSW |
17 |
57,543,712 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3036:Gpr108
|
UTSW |
17 |
57,552,323 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4087:Gpr108
|
UTSW |
17 |
57,544,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4089:Gpr108
|
UTSW |
17 |
57,544,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5071:Gpr108
|
UTSW |
17 |
57,542,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Gpr108
|
UTSW |
17 |
57,543,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6889:Gpr108
|
UTSW |
17 |
57,543,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7352:Gpr108
|
UTSW |
17 |
57,543,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7587:Gpr108
|
UTSW |
17 |
57,543,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7642:Gpr108
|
UTSW |
17 |
57,543,228 (GRCm39) |
nonsense |
probably null |
|
|
R9574:Gpr108
|
UTSW |
17 |
57,545,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Gpr108
|
UTSW |
17 |
57,544,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation