Incidental Mutation 'R2359:Golph3l'
ID |
266137 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Golph3l
|
Ensembl Gene |
ENSMUSG00000046519 |
Gene Name |
golgi phosphoprotein 3-like |
Synonyms |
GPP34R, 2010204I15Rik |
MMRRC Submission |
040341-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.178)
|
Stock # |
R2359 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
95496280-95526553 bp(+) (GRCm39) |
Type of Mutation |
splice site (2830 bp from exon) |
DNA Base Change (assembly) |
A to G
at 95499275 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029754]
[ENSMUST00000060323]
[ENSMUST00000090797]
[ENSMUST00000098861]
[ENSMUST00000098861]
[ENSMUST00000107154]
[ENSMUST00000177390]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
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 null
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000107154
|
SMART Domains |
Protein: ENSMUSP00000102772 Gene: ENSMUSG00000028109
Domain | Start | End | E-Value | Type |
Pfam:HORMA
|
23 |
221 |
5.4e-60 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176541
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176674
|
SMART Domains |
Protein: ENSMUSP00000134885 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
|
104 |
288 |
2.4e-39 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176674
|
SMART Domains |
Protein: ENSMUSP00000134885 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
|
104 |
288 |
2.4e-39 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000177390
|
SMART Domains |
Protein: ENSMUSP00000134799 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 |
332 |
8.3e-61 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198013
|
Predicted Effect |
probably null
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 |
probably null
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 |
probably null
Transcript: ENSMUST00000177389
|
Predicted Effect |
probably null
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
95% (41/43) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam24 |
A |
G |
8: 41,133,984 (GRCm39) |
E484G |
possibly damaging |
Het |
Akr1c20 |
C |
T |
13: 4,573,276 (GRCm39) |
G13D |
probably damaging |
Het |
Alkbh3 |
T |
C |
2: 93,838,458 (GRCm39) |
T38A |
probably benign |
Het |
Anxa9 |
A |
C |
3: 95,210,062 (GRCm39) |
L99R |
probably damaging |
Het |
Arfgef2 |
A |
T |
2: 166,702,539 (GRCm39) |
Y826F |
probably damaging |
Het |
Arid2 |
G |
T |
15: 96,259,759 (GRCm39) |
L306F |
probably damaging |
Het |
Ccdc141 |
C |
T |
2: 77,000,746 (GRCm39) |
V29M |
probably damaging |
Het |
Cd55b |
A |
G |
1: 130,345,858 (GRCm39) |
S187P |
probably damaging |
Het |
Cep63 |
A |
C |
9: 102,471,763 (GRCm39) |
L526V |
possibly damaging |
Het |
Chtf8 |
G |
T |
8: 107,612,048 (GRCm39) |
|
probably null |
Het |
Clca4b |
T |
A |
3: 144,631,003 (GRCm39) |
S286C |
probably damaging |
Het |
Cpsf1 |
A |
G |
15: 76,481,873 (GRCm39) |
V1080A |
probably benign |
Het |
Csf2rb2 |
C |
T |
15: 78,176,976 (GRCm39) |
V165I |
probably benign |
Het |
Cyp2c40 |
A |
T |
19: 39,766,398 (GRCm39) |
V399E |
probably damaging |
Het |
Dnmt3a |
T |
C |
12: 3,951,599 (GRCm39) |
S659P |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,630,106 (GRCm39) |
S967P |
possibly damaging |
Het |
Efr3b |
G |
A |
12: 4,030,136 (GRCm39) |
|
probably benign |
Het |
Epha8 |
A |
G |
4: 136,673,343 (GRCm39) |
I147T |
probably damaging |
Het |
Fbxo48 |
G |
A |
11: 16,903,602 (GRCm39) |
W76* |
probably null |
Het |
Ggt6 |
A |
T |
11: 72,328,377 (GRCm39) |
L254F |
possibly damaging |
Het |
Gm4204 |
T |
A |
1: 135,159,927 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2h3 |
A |
G |
5: 124,728,939 (GRCm39) |
K166R |
probably damaging |
Het |
Hsp90aa1 |
A |
G |
12: 110,661,003 (GRCm39) |
|
probably null |
Het |
Hyi |
A |
G |
4: 118,217,538 (GRCm39) |
R79G |
probably benign |
Het |
Igbp1b |
G |
A |
6: 138,634,713 (GRCm39) |
P244S |
probably damaging |
Het |
Ipo8 |
G |
A |
6: 148,717,975 (GRCm39) |
|
probably benign |
Het |
Larp4b |
C |
A |
13: 9,208,199 (GRCm39) |
T391K |
probably damaging |
Het |
Lrba |
T |
C |
3: 86,256,057 (GRCm39) |
V1133A |
probably benign |
Het |
Med13 |
C |
T |
11: 86,181,861 (GRCm39) |
|
probably benign |
Het |
Ncapd2 |
A |
G |
6: 125,156,379 (GRCm39) |
|
probably benign |
Het |
Neurl1b |
T |
C |
17: 26,660,569 (GRCm39) |
F299L |
probably benign |
Het |
Nosip |
G |
A |
7: 44,723,450 (GRCm39) |
A39T |
possibly damaging |
Het |
Nsd1 |
A |
G |
13: 55,361,524 (GRCm39) |
D164G |
possibly damaging |
Het |
Ntn1 |
G |
A |
11: 68,276,438 (GRCm39) |
T170M |
probably damaging |
Het |
Polrmt |
A |
T |
10: 79,572,396 (GRCm39) |
L1079Q |
probably damaging |
Het |
Prxl2c |
A |
T |
13: 64,460,465 (GRCm39) |
C12S |
probably benign |
Het |
Rab30 |
A |
G |
7: 92,485,005 (GRCm39) |
D129G |
possibly damaging |
Het |
Rwdd2b |
C |
T |
16: 87,233,809 (GRCm39) |
S97N |
probably benign |
Het |
Slitrk3 |
T |
G |
3: 72,956,678 (GRCm39) |
D698A |
possibly damaging |
Het |
Smarcd2 |
T |
C |
11: 106,157,990 (GRCm39) |
M93V |
probably benign |
Het |
Tmprss4 |
A |
G |
9: 45,097,130 (GRCm39) |
V45A |
probably benign |
Het |
Vmn1r22 |
A |
T |
6: 57,877,974 (GRCm39) |
M1K |
probably null |
Het |
Vps13a |
A |
G |
19: 16,630,043 (GRCm39) |
|
probably benign |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2015-02-05 |