Incidental Mutation 'R6132:Golph3l'
ID |
487167 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Golph3l
|
Ensembl Gene |
ENSMUSG00000046519 |
Gene Name |
golgi phosphoprotein 3-like |
Synonyms |
GPP34R, 2010204I15Rik |
MMRRC Submission |
044279-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.178)
|
Stock # |
R6132 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
95496280-95526553 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 95499145 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Alanine
at position 96
(P96A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096460
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029754]
[ENSMUST00000060323]
[ENSMUST00000090797]
[ENSMUST00000098861]
[ENSMUST00000107154]
[ENSMUST00000177390]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029754
|
SMART Domains |
Protein: ENSMUSP00000029754 Gene: ENSMUSG00000028109
Domain | Start | End | E-Value | Type |
Pfam:HORMA
|
24 |
221 |
4.7e-63 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000060323
|
SMART Domains |
Protein: ENSMUSP00000058654 Gene: ENSMUSG00000046519
Domain | Start | End | E-Value | Type |
Pfam:GPP34
|
50 |
275 |
8.5e-54 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090797
|
SMART Domains |
Protein: ENSMUSP00000088303 Gene: ENSMUSG00000028109
Domain | Start | End | E-Value | Type |
Pfam:HORMA
|
23 |
221 |
5.4e-60 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098861
AA Change: P96A
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000096460 Gene: ENSMUSG00000046519 AA Change: P96A
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: ENSMUST00000107154
|
SMART Domains |
Protein: ENSMUSP00000102772 Gene: ENSMUSG00000028109
Domain | Start | End | E-Value | Type |
Pfam:HORMA
|
23 |
221 |
5.4e-60 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000176541
AA Change: P91A
|
Predicted Effect |
unknown
Transcript: ENSMUST00000176674
AA Change: P95A
|
SMART Domains |
Protein: ENSMUSP00000134885 Gene: ENSMUSG00000046519 AA Change: P95A
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: ENSMUST00000177390
AA Change: P96A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000134799 Gene: ENSMUSG00000046519 AA Change: P96A
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: ENSMUST00000176755
AA Change: P93A
|
SMART Domains |
Protein: ENSMUSP00000134804 Gene: ENSMUSG00000046519 AA Change: P93A
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 |
noncoding transcript
Transcript: ENSMUST00000198013
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177389
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177399
|
SMART Domains |
Protein: ENSMUSP00000134998 Gene: ENSMUSG00000046519
Domain | Start | End | E-Value | Type |
Pfam:GPP34
|
23 |
170 |
5.4e-27 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
96% (49/51) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
C |
7: 119,960,643 (GRCm39) |
Y702H |
probably benign |
Het |
Adgrv1 |
G |
T |
13: 81,654,195 (GRCm39) |
N2225K |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Alkbh5 |
G |
T |
11: 60,428,821 (GRCm39) |
|
probably benign |
Het |
Atp5mc1 |
A |
G |
11: 95,965,850 (GRCm39) |
M1T |
probably null |
Het |
Crebrf |
C |
T |
17: 26,982,377 (GRCm39) |
P588S |
probably benign |
Het |
Ctsr |
A |
C |
13: 61,309,582 (GRCm39) |
|
probably null |
Het |
Cyp2c68 |
A |
G |
19: 39,691,858 (GRCm39) |
V355A |
possibly damaging |
Het |
Ddx52 |
A |
G |
11: 83,850,283 (GRCm39) |
K555E |
possibly damaging |
Het |
Depdc5 |
T |
A |
5: 33,067,811 (GRCm39) |
S410T |
probably damaging |
Het |
Dhx30 |
A |
T |
9: 109,914,847 (GRCm39) |
I884N |
probably damaging |
Het |
Dlg1 |
A |
T |
16: 31,655,059 (GRCm39) |
N518I |
possibly damaging |
Het |
Dnah12 |
T |
A |
14: 26,439,066 (GRCm39) |
I506N |
probably damaging |
Het |
Efcab6 |
A |
G |
15: 83,917,173 (GRCm39) |
L129P |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,808,401 (GRCm39) |
N38D |
probably benign |
Het |
Esf1 |
A |
G |
2: 140,001,699 (GRCm39) |
F383L |
probably benign |
Het |
Exoc4 |
A |
G |
6: 33,735,033 (GRCm39) |
E550G |
probably damaging |
Het |
Fbxo44 |
G |
A |
4: 148,240,565 (GRCm39) |
T221I |
probably benign |
Het |
Gal3st2b |
A |
T |
1: 93,867,688 (GRCm39) |
M112L |
possibly damaging |
Het |
Gprc6a |
T |
A |
10: 51,491,356 (GRCm39) |
I727F |
possibly damaging |
Het |
Grin3b |
T |
C |
10: 79,812,274 (GRCm39) |
L479P |
probably damaging |
Het |
Kdm5a |
C |
T |
6: 120,351,892 (GRCm39) |
H161Y |
probably damaging |
Het |
Lman2 |
A |
G |
13: 55,510,038 (GRCm39) |
S73P |
probably benign |
Het |
Map3k19 |
T |
C |
1: 127,778,213 (GRCm39) |
N4S |
possibly damaging |
Het |
Mkln1 |
G |
A |
6: 31,408,155 (GRCm39) |
V161M |
probably damaging |
Het |
Mmel1 |
C |
T |
4: 154,979,475 (GRCm39) |
H728Y |
probably damaging |
Het |
Nova2 |
G |
A |
7: 18,691,794 (GRCm39) |
A244T |
unknown |
Het |
Nrcam |
T |
A |
12: 44,617,007 (GRCm39) |
Y668N |
probably damaging |
Het |
Oacyl |
G |
T |
18: 65,859,426 (GRCm39) |
G255W |
probably damaging |
Het |
Omd |
A |
C |
13: 49,743,843 (GRCm39) |
I298L |
probably damaging |
Het |
Or5ac19 |
A |
G |
16: 59,089,367 (GRCm39) |
V221A |
probably damaging |
Het |
Or5ak24 |
A |
T |
2: 85,260,490 (GRCm39) |
S228T |
probably benign |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Otor |
A |
T |
2: 142,920,520 (GRCm39) |
D34V |
probably damaging |
Het |
Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
Pwwp2a |
A |
G |
11: 43,596,455 (GRCm39) |
Y540C |
probably damaging |
Het |
Rttn |
T |
A |
18: 89,133,770 (GRCm39) |
|
probably null |
Het |
S1pr4 |
G |
A |
10: 81,335,030 (GRCm39) |
A148V |
probably benign |
Het |
Scn10a |
C |
T |
9: 119,442,761 (GRCm39) |
V1495M |
possibly damaging |
Het |
Sel1l3 |
T |
C |
5: 53,357,531 (GRCm39) |
K154E |
possibly damaging |
Het |
Sema3a |
T |
G |
5: 13,573,142 (GRCm39) |
|
probably null |
Het |
Slf2 |
T |
A |
19: 44,949,300 (GRCm39) |
N870K |
possibly damaging |
Het |
Spmip6 |
C |
T |
4: 41,517,160 (GRCm39) |
M1I |
probably null |
Het |
Syne2 |
T |
C |
12: 75,991,921 (GRCm39) |
V1962A |
probably benign |
Het |
Tarbp1 |
T |
A |
8: 127,161,548 (GRCm39) |
I1219F |
probably benign |
Het |
Tet1 |
A |
C |
10: 62,649,079 (GRCm39) |
C173W |
probably damaging |
Het |
Tnn |
A |
G |
1: 159,973,641 (GRCm39) |
F242S |
probably damaging |
Het |
Tollip |
A |
G |
7: 141,443,334 (GRCm39) |
S174P |
probably benign |
Het |
Tsr3 |
G |
T |
17: 25,460,835 (GRCm39) |
D234Y |
probably null |
Het |
Vmn2r106 |
T |
C |
17: 20,488,666 (GRCm39) |
T578A |
probably benign |
Het |
Zfp457 |
G |
T |
13: 67,441,360 (GRCm39) |
S309* |
probably null |
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 |
IGL01299:Golph3l
|
APN |
3 |
95,524,588 (GRCm39) |
missense |
possibly damaging |
0.71 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGTGTAGGTCTTCTGTGAACC -3'
(R):5'- GGTACTAACACAATGCTATCCATCTC -3'
Sequencing Primer
(F):5'- AGGTCTTCTGTGAACCTGTATTTG -3'
(R):5'- ACACAATGCTATCCATCTCTTTCATC -3'
|
Posted On |
2017-10-10 |