Incidental Mutation 'IGL01890:Gpn3'
| ID |
179235 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpn3
|
| Ensembl Gene |
ENSMUSG00000029464 |
| Gene Name |
GPN-loop GTPase 3 |
| Synonyms |
Atpbd1c, A930018B01Rik, D5Ertd708e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.938)
|
| Stock # |
IGL01890
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
122371876-122382902 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122381265 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 176
(M176V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031420]
[ENSMUST00000127608]
[ENSMUST00000146698]
|
| AlphaFold |
Q9D3W4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031420
AA Change: M176V
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000031420
Gene: ENSMUSG00000029464
AA Change: M176V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP_bind_1
|
8 |
254 |
5.5e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123537
|
| SMART Domains |
Protein: ENSMUSP00000120667
Gene: ENSMUSG00000029464
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP_bind_1
|
1 |
112 |
2.2e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127608
AA Change: M176V
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000143405
Gene: ENSMUSG00000029464
AA Change: M176V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP_bind_1
|
8 |
189 |
1.2e-78 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146698
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151173
|
| SMART Domains |
Protein: ENSMUSP00000116560
Gene: ENSMUSG00000029464
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP_bind_1
|
1 |
70 |
6.7e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196642
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
T |
12: 80,184,868 |
V265E |
probably damaging |
Het |
| Anks1b |
A |
G |
10: 90,644,527 |
I865V |
probably benign |
Het |
| Car5a |
G |
A |
8: 121,923,610 |
A182V |
probably benign |
Het |
| Ccdc47 |
A |
G |
11: 106,205,451 |
V249A |
probably damaging |
Het |
| Cyb561d2 |
A |
G |
9: 107,541,523 |
V34A |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 131,074,419 |
|
probably benign |
Het |
| Entpd6 |
G |
A |
2: 150,770,692 |
D445N |
possibly damaging |
Het |
| Fastkd2 |
A |
G |
1: 63,732,161 |
I225M |
probably benign |
Het |
| Flcn |
A |
G |
11: 59,795,170 |
V424A |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 |
Y194F |
probably benign |
Het |
| Igkv12-38 |
C |
T |
6: 69,943,405 |
C43Y |
probably damaging |
Het |
| Oas1h |
A |
G |
5: 120,862,789 |
|
probably null |
Het |
| Rexo1 |
A |
T |
10: 80,543,011 |
Y1064N |
possibly damaging |
Het |
| Skint1 |
G |
A |
4: 112,010,681 |
G2R |
probably damaging |
Het |
| Slc4a9 |
G |
A |
18: 36,529,707 |
A172T |
possibly damaging |
Het |
| Synpo2 |
A |
G |
3: 123,112,497 |
S727P |
probably damaging |
Het |
| Tmem131 |
A |
T |
1: 36,823,156 |
|
probably benign |
Het |
| Trpm3 |
G |
T |
19: 22,711,719 |
R4L |
probably damaging |
Het |
| Upf1 |
A |
T |
8: 70,334,230 |
V879E |
possibly damaging |
Het |
| Vmn1r194 |
A |
T |
13: 22,244,606 |
Y131F |
probably benign |
Het |
| Vmn2r95 |
T |
A |
17: 18,451,475 |
N491K |
probably damaging |
Het |
| Vmn2r-ps159 |
C |
T |
4: 156,338,254 |
|
noncoding transcript |
Het |
|
| Other mutations in Gpn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02625:Gpn3
|
APN |
5 |
122381194 |
missense |
probably damaging |
0.98 |
|
IGL02947:Gpn3
|
APN |
5 |
122378488 |
missense |
possibly damaging |
0.94 |
|
R0125:Gpn3
|
UTSW |
5 |
122381418 |
missense |
probably benign |
0.01 |
|
R1171:Gpn3
|
UTSW |
5 |
122378520 |
missense |
probably benign |
0.00 |
|
R4434:Gpn3
|
UTSW |
5 |
122382052 |
missense |
probably benign |
0.01 |
|
R4435:Gpn3
|
UTSW |
5 |
122382052 |
missense |
probably benign |
0.01 |
|
R4673:Gpn3
|
UTSW |
5 |
122373918 |
missense |
probably damaging |
1.00 |
|
R4687:Gpn3
|
UTSW |
5 |
122378575 |
missense |
possibly damaging |
0.73 |
|
R4944:Gpn3
|
UTSW |
5 |
122382240 |
intron |
probably benign |
|
|
R6209:Gpn3
|
UTSW |
5 |
122382112 |
missense |
probably benign |
|
|
R6280:Gpn3
|
UTSW |
5 |
122373959 |
missense |
probably benign |
0.00 |
|
R6315:Gpn3
|
UTSW |
5 |
122372575 |
start gained |
probably benign |
|
|
R6319:Gpn3
|
UTSW |
5 |
122372575 |
start gained |
probably benign |
|
|
R6323:Gpn3
|
UTSW |
5 |
122372575 |
start gained |
probably benign |
|
|
R6324:Gpn3
|
UTSW |
5 |
122372575 |
start gained |
probably benign |
|
|
R9258:Gpn3
|
UTSW |
5 |
122381445 |
missense |
probably benign |
|
|
R9664:Gpn3
|
UTSW |
5 |
122382243 |
missense |
|
|
|
| Posted On |
2014-05-07 |
Incidental Mutation