Incidental Mutation 'IGL03004:Rabggta'
ID |
407493 |
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 # |
IGL03004
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
55953321-55959720 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 55956687 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: ENSMUST00000228899
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228604
|
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 |
Atrx |
A |
T |
X: 104,876,115 (GRCm39) |
C78* |
probably null |
Het |
Birc6 |
T |
A |
17: 74,919,180 (GRCm39) |
N1999K |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,019,826 (GRCm39) |
|
probably benign |
Het |
Cdc42bpg |
G |
A |
19: 6,361,413 (GRCm39) |
R313Q |
probably benign |
Het |
Clip3 |
A |
G |
7: 29,991,789 (GRCm39) |
Y55C |
probably damaging |
Het |
Ddit4l |
A |
G |
3: 137,331,966 (GRCm39) |
N111D |
probably benign |
Het |
Eprs1 |
T |
G |
1: 185,114,030 (GRCm39) |
M326R |
probably damaging |
Het |
F8 |
C |
T |
X: 74,255,658 (GRCm39) |
G2045D |
probably damaging |
Het |
Fstl5 |
A |
G |
3: 76,555,738 (GRCm39) |
|
probably benign |
Het |
Gm10577 |
T |
C |
4: 100,877,526 (GRCm39) |
|
probably benign |
Het |
Heatr6 |
T |
C |
11: 83,648,205 (GRCm39) |
S133P |
probably benign |
Het |
Itpr3 |
T |
G |
17: 27,316,952 (GRCm39) |
F736V |
possibly damaging |
Het |
Klf8 |
T |
C |
X: 152,165,716 (GRCm39) |
L95P |
probably damaging |
Het |
Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
Map3k12 |
A |
G |
15: 102,412,631 (GRCm39) |
V247A |
possibly damaging |
Het |
Obscn |
A |
G |
11: 58,919,413 (GRCm39) |
Y6211H |
probably damaging |
Het |
Or1j19 |
A |
G |
2: 36,677,194 (GRCm39) |
Y219C |
probably damaging |
Het |
Pip4k2b |
A |
G |
11: 97,615,300 (GRCm39) |
Y187H |
probably damaging |
Het |
Ranbp3 |
T |
A |
17: 57,014,207 (GRCm39) |
V246E |
probably damaging |
Het |
Rtf1 |
C |
A |
2: 119,531,754 (GRCm39) |
|
probably benign |
Het |
Sema3b |
G |
A |
9: 107,480,114 (GRCm39) |
P208L |
possibly damaging |
Het |
Smpd1 |
A |
G |
7: 105,205,881 (GRCm39) |
D416G |
possibly damaging |
Het |
Spam1 |
T |
C |
6: 24,796,913 (GRCm39) |
V288A |
probably damaging |
Het |
Stac |
A |
C |
9: 111,431,608 (GRCm39) |
S248A |
probably benign |
Het |
Tmem178b |
C |
A |
6: 40,222,515 (GRCm39) |
R77S |
probably damaging |
Het |
Vegfd |
T |
C |
X: 163,185,104 (GRCm39) |
L352P |
probably benign |
Het |
Vmn1r176 |
A |
T |
7: 23,534,702 (GRCm39) |
N150K |
probably damaging |
Het |
Vmn1r230 |
T |
C |
17: 21,067,772 (GRCm39) |
|
probably benign |
Het |
Vsig10 |
A |
G |
5: 117,463,140 (GRCm39) |
Y122C |
probably damaging |
Het |
Xpo5 |
T |
A |
17: 46,518,766 (GRCm39) |
V121E |
probably damaging |
Het |
Zrsr2 |
T |
C |
X: 162,722,397 (GRCm39) |
Q285R |
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 |
|
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 |
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 |
2016-08-02 |