Incidental Mutation 'IGL01146:Gopc'
| ID |
52164 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gopc
|
| Ensembl Gene |
ENSMUSG00000019861 |
| Gene Name |
golgi associated PDZ and coiled-coil motif containing |
| Synonyms |
GOPC1, 2210402P09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
IGL01146
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
52213120-52258220 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52234963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 120
(V120A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020008]
[ENSMUST00000105475]
[ENSMUST00000180473]
[ENSMUST00000217753]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020008
AA Change: V120A
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000020008
Gene: ENSMUSG00000019861
AA Change: V120A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
30 |
N/A |
INTRINSIC |
|
coiled coil region
|
85 |
125 |
N/A |
INTRINSIC |
|
Blast:PDZ
|
192 |
232 |
5e-10 |
BLAST |
|
PDZ
|
290 |
364 |
5.41e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105475
AA Change: V120A
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000101115
Gene: ENSMUSG00000019861
AA Change: V120A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
30 |
N/A |
INTRINSIC |
|
coiled coil region
|
85 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
165 |
N/A |
INTRINSIC |
|
Blast:PDZ
|
200 |
240 |
5e-10 |
BLAST |
|
PDZ
|
298 |
372 |
5.41e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180473
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217710
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217753
AA Change: V60A
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Golgi protein with a PDZ domain. The PDZ domain is globular and proteins which contain them bind other proteins through short motifs near the C-termini. Mice which are deficient in the orthologous protein have globozoospermia and are infertile. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a null allele show male sterility with globozoospermia characterized by a complete lack of acrosomes due to failure of vesicle transport from the Golgi apparatus, a malformed sperm nucleus, and abnormal mitochondrial arrangement in the mitochondrial sheath of mutant spermatozoa. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
T |
C |
6: 40,943,217 (GRCm39) |
I54T |
probably damaging |
Het |
| Acss2 |
T |
C |
2: 155,403,957 (GRCm39) |
V701A |
possibly damaging |
Het |
| Adam6a |
A |
T |
12: 113,507,840 (GRCm39) |
Y71F |
probably damaging |
Het |
| Arhgef37 |
A |
T |
18: 61,651,081 (GRCm39) |
I148N |
possibly damaging |
Het |
| Bhlhe40 |
T |
C |
6: 108,641,901 (GRCm39) |
S282P |
possibly damaging |
Het |
| Bmp2 |
A |
T |
2: 133,403,220 (GRCm39) |
Q257L |
probably benign |
Het |
| C2cd4d |
A |
G |
3: 94,271,770 (GRCm39) |
|
probably benign |
Het |
| Calcr |
T |
A |
6: 3,700,144 (GRCm39) |
Y316F |
possibly damaging |
Het |
| Ccdc186 |
T |
C |
19: 56,797,749 (GRCm39) |
E274G |
probably damaging |
Het |
| Cdc34b |
G |
T |
11: 94,633,420 (GRCm39) |
D207Y |
probably benign |
Het |
| Chst5 |
C |
T |
8: 112,617,314 (GRCm39) |
C102Y |
probably damaging |
Het |
| Cnbd2 |
T |
A |
2: 156,154,534 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
C |
T |
2: 130,612,591 (GRCm39) |
|
probably null |
Het |
| Dnm1l |
T |
C |
16: 16,132,189 (GRCm39) |
D549G |
probably benign |
Het |
| Gm4847 |
T |
A |
1: 166,462,521 (GRCm39) |
D323V |
probably damaging |
Het |
| Gm9843 |
G |
A |
16: 76,200,255 (GRCm39) |
|
noncoding transcript |
Het |
| Kmt2c |
T |
G |
5: 25,513,510 (GRCm39) |
M3095L |
probably damaging |
Het |
| Man1a |
T |
C |
10: 53,783,615 (GRCm39) |
E629G |
possibly damaging |
Het |
| Pde4b |
T |
A |
4: 102,112,460 (GRCm39) |
S12T |
possibly damaging |
Het |
| Phf2 |
A |
T |
13: 48,973,083 (GRCm39) |
L391Q |
unknown |
Het |
| Phf8-ps |
A |
G |
17: 33,284,357 (GRCm39) |
L815S |
possibly damaging |
Het |
| Plekha7 |
G |
A |
7: 115,756,708 (GRCm39) |
|
probably benign |
Het |
| Pmpcb |
T |
A |
5: 21,945,476 (GRCm39) |
|
probably benign |
Het |
| Poc1a |
T |
C |
9: 106,182,503 (GRCm39) |
Y285H |
probably benign |
Het |
| Polr1e |
T |
C |
4: 45,031,369 (GRCm39) |
L387S |
probably damaging |
Het |
| Prr9 |
A |
T |
3: 92,030,504 (GRCm39) |
C45* |
probably null |
Het |
| Rnf157 |
T |
C |
11: 116,240,912 (GRCm39) |
H393R |
probably benign |
Het |
| Rps6ka4 |
A |
G |
19: 6,808,496 (GRCm39) |
F554L |
probably damaging |
Het |
| Sez6l |
A |
G |
5: 112,576,275 (GRCm39) |
S861P |
probably damaging |
Het |
| Sh3tc2 |
G |
T |
18: 62,122,582 (GRCm39) |
D448Y |
probably damaging |
Het |
| Smg6 |
T |
G |
11: 74,821,254 (GRCm39) |
Y508* |
probably null |
Het |
| Sult6b2 |
C |
T |
6: 142,750,034 (GRCm39) |
G28D |
probably benign |
Het |
| Traf2 |
C |
A |
2: 25,414,931 (GRCm39) |
C303F |
probably benign |
Het |
|
| Other mutations in Gopc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Gopc
|
APN |
10 |
52,225,326 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Forgetful
|
UTSW |
10 |
52,225,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Non_compos
|
UTSW |
10 |
52,225,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0281:Gopc
|
UTSW |
10 |
52,226,774 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0798:Gopc
|
UTSW |
10 |
52,234,907 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2238:Gopc
|
UTSW |
10 |
52,229,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2255:Gopc
|
UTSW |
10 |
52,225,181 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2507:Gopc
|
UTSW |
10 |
52,229,422 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4153:Gopc
|
UTSW |
10 |
52,225,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5484:Gopc
|
UTSW |
10 |
52,234,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5936:Gopc
|
UTSW |
10 |
52,222,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7385:Gopc
|
UTSW |
10 |
52,225,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7806:Gopc
|
UTSW |
10 |
52,229,525 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7844:Gopc
|
UTSW |
10 |
52,215,845 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8066:Gopc
|
UTSW |
10 |
52,230,812 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8558:Gopc
|
UTSW |
10 |
52,229,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8786:Gopc
|
UTSW |
10 |
52,230,750 (GRCm39) |
nonsense |
probably null |
|
|
R9736:Gopc
|
UTSW |
10 |
52,229,558 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
X0019:Gopc
|
UTSW |
10 |
52,215,837 (GRCm39) |
missense |
probably benign |
0.43 |
|
Z1177:Gopc
|
UTSW |
10 |
52,226,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation