Incidental Mutation 'IGL01299:Golph3l'
| ID |
75203 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Golph3l
|
| Ensembl Gene |
ENSMUSG00000046519 |
| Gene Name |
golgi phosphoprotein 3-like |
| Synonyms |
GPP34R, 2010204I15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
IGL01299
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
95496280-95526553 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95524588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 217
(T217A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058654
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060323]
[ENSMUST00000098861]
[ENSMUST00000177390]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060323
AA Change: T217A
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000058654
Gene: ENSMUSG00000046519
AA Change: T217A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GPP34
|
50 |
275 |
8.5e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098861
|
| SMART Domains |
Protein: ENSMUSP00000096460
Gene: ENSMUSG00000046519
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
83 |
N/A |
INTRINSIC |
|
Pfam:GPP34
|
106 |
277 |
5.1e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176541
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176674
AA Change: T235A
|
| SMART Domains |
Protein: ENSMUSP00000134885
Gene: ENSMUSG00000046519
AA Change: T235A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
83 |
N/A |
INTRINSIC |
|
Pfam:GPP34
|
104 |
288 |
2.4e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176755
|
| SMART Domains |
Protein: ENSMUSP00000134804
Gene: ENSMUSG00000046519
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
|
Pfam:GPP34
|
104 |
275 |
7.5e-51 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000177389
AA Change: T216A
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177390
AA Change: T280A
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000134799
Gene: ENSMUSG00000046519
AA Change: T280A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
83 |
N/A |
INTRINSIC |
|
Pfam:GPP34
|
106 |
332 |
8.3e-61 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000177399
AA Change: T117A
|
| SMART Domains |
Protein: ENSMUSP00000134998
Gene: ENSMUSG00000046519
AA Change: T117A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GPP34
|
23 |
170 |
5.4e-27 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is localized at the Golgi stack and may have a regulatory role in Golgi trafficking. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,248,743 (GRCm39) |
T2830I |
probably benign |
Het |
| Akap1 |
C |
T |
11: 88,735,080 (GRCm39) |
|
probably null |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Cdk12 |
C |
T |
11: 98,101,272 (GRCm39) |
R377C |
unknown |
Het |
| Cox6b1 |
G |
A |
7: 30,316,553 (GRCm39) |
T81I |
possibly damaging |
Het |
| Creb1 |
T |
C |
1: 64,609,284 (GRCm39) |
|
probably benign |
Het |
| Cyp4f40 |
G |
T |
17: 32,886,948 (GRCm39) |
A140S |
probably benign |
Het |
| Dus4l |
A |
G |
12: 31,690,823 (GRCm39) |
M276T |
probably benign |
Het |
| Dync1h1 |
G |
T |
12: 110,580,541 (GRCm39) |
R134L |
probably benign |
Het |
| Fmo2 |
A |
T |
1: 162,705,599 (GRCm39) |
N413K |
probably benign |
Het |
| Gabrp |
T |
C |
11: 33,504,476 (GRCm39) |
T280A |
probably damaging |
Het |
| Mtr |
T |
C |
13: 12,240,536 (GRCm39) |
|
probably benign |
Het |
| Nbea |
T |
G |
3: 55,598,315 (GRCm39) |
D2398A |
probably damaging |
Het |
| Or3a4 |
T |
A |
11: 73,945,301 (GRCm39) |
I95F |
probably benign |
Het |
| Phyh |
T |
A |
2: 4,935,604 (GRCm39) |
W193R |
probably null |
Het |
| Rab36 |
A |
G |
10: 74,884,298 (GRCm39) |
Q82R |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,328,639 (GRCm39) |
V2846A |
probably damaging |
Het |
| Rprd2 |
G |
A |
3: 95,683,859 (GRCm39) |
S374L |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,308,382 (GRCm39) |
R462G |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 72,956,349 (GRCm39) |
N808D |
probably benign |
Het |
| Tbck |
A |
T |
3: 132,430,638 (GRCm39) |
I345F |
probably damaging |
Het |
| Tor2a |
T |
A |
2: 32,649,558 (GRCm39) |
V146D |
probably damaging |
Het |
| Trpc6 |
C |
A |
9: 8,653,062 (GRCm39) |
Q623K |
probably damaging |
Het |
| Ube2q1 |
A |
G |
3: 89,688,681 (GRCm39) |
S192G |
probably damaging |
Het |
| Vnn1 |
T |
A |
10: 23,770,949 (GRCm39) |
L59Q |
probably damaging |
Het |
|
| Other mutations in Golph3l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00583:Golph3l
|
APN |
3 |
95,496,414 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0749:Golph3l
|
UTSW |
3 |
95,515,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2021:Golph3l
|
UTSW |
3 |
95,524,668 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2161:Golph3l
|
UTSW |
3 |
95,524,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2359:Golph3l
|
UTSW |
3 |
95,499,275 (GRCm39) |
splice site |
probably null |
|
|
R3015:Golph3l
|
UTSW |
3 |
95,499,024 (GRCm39) |
intron |
probably benign |
|
|
R4828:Golph3l
|
UTSW |
3 |
95,499,059 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4933:Golph3l
|
UTSW |
3 |
95,524,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5088:Golph3l
|
UTSW |
3 |
95,524,501 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6132:Golph3l
|
UTSW |
3 |
95,499,145 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6339:Golph3l
|
UTSW |
3 |
95,524,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7595:Golph3l
|
UTSW |
3 |
95,517,094 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8164:Golph3l
|
UTSW |
3 |
95,524,517 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9435:Golph3l
|
UTSW |
3 |
95,496,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9763:Golph3l
|
UTSW |
3 |
95,517,085 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9779:Golph3l
|
UTSW |
3 |
95,499,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-10-07 |
Incidental Mutation