Incidental Mutation 'IGL02293:Rabggta'
| ID |
290104 |
| 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: 0.968)
|
| Stock # |
IGL02293
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55953321-55959720 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 55959153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 5
(L5M)
|
| 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
AA Change: L5M
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000128668
Gene: ENSMUSG00000040472
AA Change: L5M
| 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
AA Change: L5M
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133032
Gene: ENSMUSG00000040472
AA Change: L5M
| 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
AA Change: L5M
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227617
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228826
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
A |
G |
13: 30,565,340 (GRCm39) |
K135R |
probably benign |
Het |
| Ahdc1 |
C |
T |
4: 132,792,929 (GRCm39) |
A1390V |
possibly damaging |
Het |
| Aldh1a2 |
A |
G |
9: 71,192,559 (GRCm39) |
|
probably null |
Het |
| Bltp2 |
T |
A |
11: 78,162,736 (GRCm39) |
L866H |
probably damaging |
Het |
| C6 |
T |
A |
15: 4,784,785 (GRCm39) |
I217K |
probably benign |
Het |
| Ccr1l1 |
G |
A |
9: 123,777,973 (GRCm39) |
T158I |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,110,633 (GRCm39) |
|
probably benign |
Het |
| Ect2l |
A |
G |
10: 18,016,259 (GRCm39) |
|
probably null |
Het |
| Eif1ad11 |
A |
G |
12: 87,994,033 (GRCm39) |
N87S |
probably benign |
Het |
| Endov |
T |
C |
11: 119,395,999 (GRCm39) |
|
probably benign |
Het |
| Fpr-rs7 |
A |
G |
17: 20,334,232 (GRCm39) |
V86A |
probably benign |
Het |
| Gle1 |
A |
G |
2: 29,847,772 (GRCm39) |
I660V |
probably benign |
Het |
| Hk2 |
A |
T |
6: 82,720,956 (GRCm39) |
D159E |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,540,666 (GRCm39) |
V2881A |
probably damaging |
Het |
| Hspa14 |
T |
C |
2: 3,512,071 (GRCm39) |
K68E |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,551,314 (GRCm39) |
I974N |
probably damaging |
Het |
| Igkv4-71 |
A |
C |
6: 69,220,306 (GRCm39) |
S42A |
possibly damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Klhl32 |
A |
G |
4: 24,626,935 (GRCm39) |
Y555H |
probably damaging |
Het |
| Lmbrd2 |
T |
C |
15: 9,172,276 (GRCm39) |
S357P |
probably benign |
Het |
| Mfsd1 |
T |
A |
3: 67,505,425 (GRCm39) |
V380D |
probably damaging |
Het |
| Ndc80 |
A |
G |
17: 71,821,273 (GRCm39) |
F225S |
probably damaging |
Het |
| Or2ak7 |
T |
C |
11: 58,574,996 (GRCm39) |
V99A |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,940,874 (GRCm39) |
V1355A |
probably damaging |
Het |
| Prkd1 |
A |
G |
12: 50,536,761 (GRCm39) |
S108P |
probably damaging |
Het |
| Ptges3 |
C |
T |
10: 127,911,204 (GRCm39) |
|
probably benign |
Het |
| Rag1 |
C |
T |
2: 101,473,391 (GRCm39) |
D584N |
probably benign |
Het |
| Rasl12 |
A |
G |
9: 65,315,593 (GRCm39) |
D79G |
probably benign |
Het |
| Rhoj |
A |
G |
12: 75,422,186 (GRCm39) |
|
probably benign |
Het |
| Slc4a9 |
T |
C |
18: 36,666,268 (GRCm39) |
L483P |
probably benign |
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 |
|
IGL02263:Rabggta
|
APN |
14 |
55,956,418 (GRCm39) |
splice site |
probably benign |
|
|
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 |
Incidental Mutation