Incidental Mutation 'IGL02012:Pggt1b'
| ID |
183380 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pggt1b
|
| Ensembl Gene |
ENSMUSG00000024477 |
| Gene Name |
protein geranylgeranyltransferase type I, beta subunit |
| Synonyms |
BGG1, GGT1, 2010207C17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
IGL02012
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
46368418-46414060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 46396022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 88
(S88T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025354]
|
| AlphaFold |
Q8BUY9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025354
AA Change: S88T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025354
Gene: ENSMUSG00000024477
AA Change: S88T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prenyltrans
|
142 |
186 |
8.6e-10 |
PFAM |
|
Pfam:Prenyltrans
|
191 |
234 |
2.2e-10 |
PFAM |
|
Pfam:Prenyltrans
|
240 |
284 |
4.8e-10 |
PFAM |
|
Pfam:Prenyltrans
|
289 |
333 |
4e-12 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein geranylgeranyltransferase type I (GGTase-I) transfers a geranylgeranyl group to the cysteine residue of candidate proteins containing a C-terminal CAAX motif in which 'A' is an aliphatic amino acid and 'X' is leucine (summarized by Zhang et al., 1994 [PubMed 8106351]). The enzyme is composed of a 48-kD alpha subunit (FNTA; MIM 134635) and a 43-kD beta subunit, encoded by the PGGT1B gene. The FNTA gene encodes the alpha subunit for both GGTase-I and the related enzyme farnesyltransferase.[supplied by OMIM, Mar 2010]
PHENOTYPE: Homozygous inactivation of this gene blocks proliferation of primary mouse fibroblasts, disrupts the actin cytoskeleton, and results in altered cell morphology and reduced cell migration in a standard wound healing assay. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,651,820 (GRCm39) |
N1296S |
probably damaging |
Het |
| Adprh |
A |
T |
16: 38,266,214 (GRCm39) |
D309E |
possibly damaging |
Het |
| Armc1 |
A |
T |
3: 19,211,701 (GRCm39) |
C40S |
possibly damaging |
Het |
| Cops8 |
T |
C |
1: 90,539,956 (GRCm39) |
V204A |
probably damaging |
Het |
| Cstdc5 |
T |
G |
16: 36,187,802 (GRCm39) |
D21A |
possibly damaging |
Het |
| Dchs1 |
T |
G |
7: 105,413,504 (GRCm39) |
T1104P |
probably damaging |
Het |
| Ddi2 |
A |
T |
4: 141,435,529 (GRCm39) |
|
probably null |
Het |
| Ehbp1 |
G |
A |
11: 22,051,218 (GRCm39) |
P420S |
probably damaging |
Het |
| Eif1ad |
T |
G |
19: 5,418,687 (GRCm39) |
V80G |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,480,577 (GRCm39) |
Y3004H |
possibly damaging |
Het |
| Fbxo11 |
C |
T |
17: 88,320,079 (GRCm39) |
R211Q |
probably benign |
Het |
| Foxf2 |
A |
G |
13: 31,810,499 (GRCm39) |
N146S |
probably damaging |
Het |
| Fsd2 |
A |
T |
7: 81,199,662 (GRCm39) |
N334K |
probably benign |
Het |
| Gm45234 |
C |
A |
6: 124,723,011 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,323,069 (GRCm39) |
F1157I |
probably benign |
Het |
| Jph1 |
C |
A |
1: 17,167,638 (GRCm39) |
W64L |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,126,152 (GRCm39) |
|
probably benign |
Het |
| Man2a1 |
T |
C |
17: 64,973,894 (GRCm39) |
I390T |
probably damaging |
Het |
| Marveld3 |
C |
T |
8: 110,674,764 (GRCm39) |
V351M |
probably damaging |
Het |
| Minar1 |
T |
C |
9: 89,483,491 (GRCm39) |
I635M |
probably benign |
Het |
| Mycn |
A |
G |
12: 12,987,104 (GRCm39) |
L431P |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,359,847 (GRCm39) |
N463S |
probably benign |
Het |
| Npnt |
A |
G |
3: 132,614,158 (GRCm39) |
C182R |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,967,333 (GRCm39) |
V3068A |
probably benign |
Het |
| Prx |
A |
G |
7: 27,217,326 (GRCm39) |
E748G |
probably damaging |
Het |
| Scrn3 |
T |
C |
2: 73,148,773 (GRCm39) |
|
probably null |
Het |
| Trmt10b |
G |
A |
4: 45,315,045 (GRCm39) |
R292H |
probably benign |
Het |
| Tuft1 |
A |
G |
3: 94,529,462 (GRCm39) |
|
probably benign |
Het |
| Wfdc8 |
T |
C |
2: 164,445,070 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pggt1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Pggt1b
|
APN |
18 |
46,413,786 (GRCm39) |
missense |
probably benign |
0.06 |
|
P0035:Pggt1b
|
UTSW |
18 |
46,392,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0140:Pggt1b
|
UTSW |
18 |
46,391,150 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0448:Pggt1b
|
UTSW |
18 |
46,396,039 (GRCm39) |
splice site |
probably benign |
|
|
R2097:Pggt1b
|
UTSW |
18 |
46,379,695 (GRCm39) |
missense |
probably benign |
|
|
R4010:Pggt1b
|
UTSW |
18 |
46,382,003 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4839:Pggt1b
|
UTSW |
18 |
46,391,166 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5947:Pggt1b
|
UTSW |
18 |
46,382,007 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6225:Pggt1b
|
UTSW |
18 |
46,407,674 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9781:Pggt1b
|
UTSW |
18 |
46,392,779 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2014-05-07 |
Incidental Mutation