Incidental Mutation 'IGL02263:Rabggta'
ID |
286830 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rabggta
|
Ensembl Gene |
ENSMUSG00000040472 |
Gene Name |
Rab geranylgeranyl transferase, a subunit |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
IGL02263
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
55953321-55959720 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 55956418 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154725
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062861]
[ENSMUST00000163889]
[ENSMUST00000169237]
[ENSMUST00000227061]
|
AlphaFold |
Q9JHK4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062861
|
SMART Domains |
Protein: ENSMUSP00000061498 Gene: ENSMUSG00000040472
Domain | Start | End | E-Value | Type |
Pfam:PPTA
|
47 |
77 |
2.9e-8 |
PFAM |
Pfam:PPTA
|
91 |
121 |
2e-12 |
PFAM |
Pfam:PPTA
|
127 |
156 |
7.6e-11 |
PFAM |
Pfam:PPTA
|
162 |
192 |
3.8e-12 |
PFAM |
Pfam:PPTA
|
210 |
240 |
7.8e-12 |
PFAM |
Pfam:RabGGT_insert
|
243 |
346 |
5.3e-47 |
PFAM |
LRR
|
462 |
485 |
1.62e0 |
SMART |
LRR
|
507 |
531 |
1.03e2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163889
|
SMART Domains |
Protein: ENSMUSP00000128668 Gene: ENSMUSG00000040472
Domain | Start | End | E-Value | Type |
Pfam:PPTA
|
47 |
77 |
2.9e-8 |
PFAM |
Pfam:PPTA
|
91 |
121 |
2e-12 |
PFAM |
Pfam:PPTA
|
127 |
156 |
7.6e-11 |
PFAM |
Pfam:PPTA
|
162 |
192 |
3.8e-12 |
PFAM |
Pfam:PPTA
|
210 |
240 |
7.8e-12 |
PFAM |
Pfam:RabGGT_insert
|
243 |
346 |
5.3e-47 |
PFAM |
LRR
|
462 |
485 |
1.62e0 |
SMART |
LRR
|
507 |
531 |
1.03e2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169237
|
SMART Domains |
Protein: ENSMUSP00000133032 Gene: ENSMUSG00000040472
Domain | Start | End | E-Value | Type |
Pfam:PPTA
|
92 |
119 |
3.6e-12 |
PFAM |
Pfam:PPTA
|
128 |
154 |
1.2e-10 |
PFAM |
Pfam:PPTA
|
163 |
190 |
2e-11 |
PFAM |
Pfam:PPTA
|
211 |
238 |
9e-12 |
PFAM |
Pfam:RabGGT_insert
|
244 |
346 |
1.9e-46 |
PFAM |
LRR
|
462 |
485 |
1.62e0 |
SMART |
LRR
|
507 |
531 |
1.03e2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226209
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227061
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227132
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227617
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228826
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228604
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228899
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygotes exhibit diluted pigmentation, a platelet defect resulting in prolonged bleeding, macrothrombocytopenia, impaired killing by cytotoxic T lymphocytes, high mortality, and poor breeding. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff3 |
A |
G |
1: 38,574,680 (GRCm39) |
V100A |
probably damaging |
Het |
Agmo |
T |
A |
12: 37,407,696 (GRCm39) |
N193K |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,948,139 (GRCm39) |
I1910V |
probably benign |
Het |
Dsg2 |
T |
A |
18: 20,723,077 (GRCm39) |
S368T |
possibly damaging |
Het |
Eif2ak4 |
A |
G |
2: 118,292,259 (GRCm39) |
T1270A |
probably benign |
Het |
Ina |
T |
C |
19: 47,003,926 (GRCm39) |
S245P |
probably damaging |
Het |
Katnb1 |
A |
G |
8: 95,816,703 (GRCm39) |
K96R |
probably damaging |
Het |
Kcnj4 |
A |
G |
15: 79,369,988 (GRCm39) |
|
probably benign |
Het |
Kcnn3 |
A |
G |
3: 89,568,525 (GRCm39) |
H601R |
possibly damaging |
Het |
Lrrc25 |
C |
A |
8: 71,070,472 (GRCm39) |
F84L |
probably benign |
Het |
Ltb |
A |
G |
17: 35,414,977 (GRCm39) |
Y259C |
probably damaging |
Het |
Macc1 |
T |
G |
12: 119,409,752 (GRCm39) |
N173K |
possibly damaging |
Het |
Med17 |
A |
T |
9: 15,178,772 (GRCm39) |
N466K |
probably damaging |
Het |
Ncoa2 |
A |
T |
1: 13,244,987 (GRCm39) |
N570K |
probably damaging |
Het |
Or52ae9 |
A |
T |
7: 103,390,262 (GRCm39) |
F62I |
probably damaging |
Het |
Or5w1 |
A |
T |
2: 87,486,543 (GRCm39) |
C241S |
probably damaging |
Het |
Or8k20 |
T |
A |
2: 86,106,546 (GRCm39) |
Y95F |
probably benign |
Het |
Plb1 |
T |
C |
5: 32,478,692 (GRCm39) |
|
probably benign |
Het |
Ptprk |
G |
A |
10: 27,951,110 (GRCm39) |
V12I |
unknown |
Het |
Slc41a2 |
A |
G |
10: 83,149,364 (GRCm39) |
V193A |
possibly damaging |
Het |
Thbs1 |
A |
G |
2: 117,950,361 (GRCm39) |
N665D |
probably benign |
Het |
Tm9sf1 |
T |
C |
14: 55,880,392 (GRCm39) |
T2A |
possibly damaging |
Het |
Traf7 |
C |
A |
17: 24,732,020 (GRCm39) |
C193F |
possibly damaging |
Het |
Vmn1r91 |
A |
G |
7: 19,835,768 (GRCm39) |
D229G |
probably benign |
Het |
Vmn2r7 |
A |
C |
3: 64,598,868 (GRCm39) |
V654G |
probably damaging |
Het |
|
Other mutations in Rabggta |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01876:Rabggta
|
APN |
14 |
55,956,128 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02293:Rabggta
|
APN |
14 |
55,959,153 (GRCm39) |
missense |
probably benign |
0.27 |
IGL02377:Rabggta
|
APN |
14 |
55,955,952 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02901:Rabggta
|
APN |
14 |
55,959,138 (GRCm39) |
missense |
probably benign |
0.41 |
IGL03004:Rabggta
|
APN |
14 |
55,956,687 (GRCm39) |
splice site |
probably benign |
|
R0334:Rabggta
|
UTSW |
14 |
55,958,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R1914:Rabggta
|
UTSW |
14 |
55,958,646 (GRCm39) |
missense |
possibly damaging |
0.73 |
R2926:Rabggta
|
UTSW |
14 |
55,956,747 (GRCm39) |
missense |
probably benign |
0.00 |
R4469:Rabggta
|
UTSW |
14 |
55,953,944 (GRCm39) |
missense |
probably benign |
0.00 |
R5584:Rabggta
|
UTSW |
14 |
55,958,289 (GRCm39) |
missense |
probably benign |
|
R6721:Rabggta
|
UTSW |
14 |
55,954,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R6960:Rabggta
|
UTSW |
14 |
55,959,299 (GRCm39) |
critical splice donor site |
probably null |
|
R7169:Rabggta
|
UTSW |
14 |
55,958,358 (GRCm39) |
missense |
probably damaging |
0.99 |
R7447:Rabggta
|
UTSW |
14 |
55,956,773 (GRCm39) |
missense |
probably null |
0.11 |
R7805:Rabggta
|
UTSW |
14 |
55,956,969 (GRCm39) |
missense |
probably benign |
0.00 |
R8038:Rabggta
|
UTSW |
14 |
55,956,387 (GRCm39) |
missense |
probably benign |
0.07 |
R8422:Rabggta
|
UTSW |
14 |
55,955,915 (GRCm39) |
missense |
probably benign |
0.21 |
R9008:Rabggta
|
UTSW |
14 |
55,955,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R9018:Rabggta
|
UTSW |
14 |
55,957,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R9050:Rabggta
|
UTSW |
14 |
55,959,056 (GRCm39) |
missense |
probably benign |
0.18 |
R9232:Rabggta
|
UTSW |
14 |
55,956,745 (GRCm39) |
missense |
probably benign |
0.01 |
R9301:Rabggta
|
UTSW |
14 |
55,957,083 (GRCm39) |
missense |
probably benign |
|
R9664:Rabggta
|
UTSW |
14 |
55,956,375 (GRCm39) |
nonsense |
probably null |
|
R9782:Rabggta
|
UTSW |
14 |
55,955,944 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Posted On |
2015-04-16 |