Incidental Mutation 'R2926:Rabggta'
| ID |
255781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabggta
|
| Ensembl Gene |
ENSMUSG00000040472 |
| Gene Name |
Rab geranylgeranyl transferase, a subunit |
| Synonyms |
|
| MMRRC Submission |
040511-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R2926 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55953321-55959720 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 55956747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 319
(R319H)
|
| 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
AA Change: R49H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000061498
Gene: ENSMUSG00000040472
AA Change: R49H
| 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: R319H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000128668
Gene: ENSMUSG00000040472
AA Change: R319H
| 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: R319H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000133032
Gene: ENSMUSG00000040472
AA Change: R319H
| 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: R319H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227617
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228899
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228826
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228604
|
| Meta Mutation Damage Score |
0.0811 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
98% (50/51) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
G |
T |
5: 124,216,902 (GRCm39) |
S438R |
possibly damaging |
Het |
| Add3 |
A |
G |
19: 53,215,253 (GRCm39) |
|
probably null |
Het |
| Adgrb2 |
T |
C |
4: 129,902,137 (GRCm39) |
L506P |
probably damaging |
Het |
| Atp6v0a1 |
A |
T |
11: 100,934,774 (GRCm39) |
I621L |
probably damaging |
Het |
| Calb1 |
T |
G |
4: 15,904,302 (GRCm39) |
L218R |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,437,203 (GRCm39) |
|
probably benign |
Het |
| Ccser2 |
A |
T |
14: 36,601,518 (GRCm39) |
S842T |
possibly damaging |
Het |
| Cd300a |
A |
G |
11: 114,784,139 (GRCm39) |
E49G |
possibly damaging |
Het |
| Colec11 |
T |
A |
12: 28,667,428 (GRCm39) |
Q37L |
probably damaging |
Het |
| D630045J12Rik |
T |
A |
6: 38,145,106 (GRCm39) |
I1307F |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,867,564 (GRCm39) |
V257A |
possibly damaging |
Het |
| Dnah3 |
T |
A |
7: 119,550,338 (GRCm39) |
N3327I |
probably damaging |
Het |
| Gja8 |
C |
T |
3: 96,826,469 (GRCm39) |
V398I |
probably benign |
Het |
| Hfm1 |
A |
T |
5: 107,022,148 (GRCm39) |
L179* |
probably null |
Het |
| Hsd3b9 |
A |
G |
3: 98,357,872 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
T |
C |
14: 57,726,375 (GRCm39) |
Y678H |
probably damaging |
Het |
| Itga10 |
A |
G |
3: 96,560,165 (GRCm39) |
N560D |
probably damaging |
Het |
| Itpk1 |
G |
T |
12: 102,545,389 (GRCm39) |
P238Q |
probably damaging |
Het |
| Kl |
T |
C |
5: 150,876,806 (GRCm39) |
W209R |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,954,828 (GRCm39) |
N1127S |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,423,982 (GRCm39) |
C830Y |
probably damaging |
Het |
| Mcmbp |
G |
A |
7: 128,299,738 (GRCm39) |
|
probably benign |
Het |
| Mrps33 |
A |
G |
6: 39,782,438 (GRCm39) |
S28P |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Myt1 |
C |
T |
2: 181,467,803 (GRCm39) |
T1079M |
possibly damaging |
Het |
| N4bp1 |
A |
T |
8: 87,588,424 (GRCm39) |
Y171* |
probably null |
Het |
| Ncln |
G |
T |
10: 81,324,272 (GRCm39) |
T442K |
probably benign |
Het |
| Nphp4 |
T |
C |
4: 152,602,596 (GRCm39) |
V390A |
probably damaging |
Het |
| Ntrk2 |
C |
A |
13: 59,208,098 (GRCm39) |
T648K |
probably damaging |
Het |
| Nwd1 |
A |
G |
8: 73,393,640 (GRCm39) |
H301R |
probably damaging |
Het |
| Or4k5 |
A |
T |
14: 50,385,893 (GRCm39) |
V146E |
probably benign |
Het |
| Pcdh12 |
T |
C |
18: 38,415,443 (GRCm39) |
N561D |
probably damaging |
Het |
| Pcnx1 |
T |
A |
12: 82,041,769 (GRCm39) |
S2134T |
probably damaging |
Het |
| Ppp1cc |
G |
A |
5: 122,312,151 (GRCm39) |
A306T |
probably benign |
Het |
| Pramel3e |
G |
T |
X: 134,400,297 (GRCm39) |
A96S |
possibly damaging |
Het |
| Prrc2c |
C |
T |
1: 162,533,696 (GRCm39) |
|
probably benign |
Het |
| Scn10a |
A |
C |
9: 119,467,767 (GRCm39) |
F791C |
possibly damaging |
Het |
| Stab1 |
T |
A |
14: 30,883,756 (GRCm39) |
D267V |
probably damaging |
Het |
| Sva |
A |
T |
6: 42,019,596 (GRCm39) |
Y152F |
possibly damaging |
Het |
| Tgfbrap1 |
T |
G |
1: 43,114,789 (GRCm39) |
M104L |
probably damaging |
Het |
| Tmed4 |
T |
C |
11: 6,221,728 (GRCm39) |
T203A |
probably benign |
Het |
| Toe1 |
C |
T |
4: 116,662,177 (GRCm39) |
A331T |
possibly damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trpm7 |
T |
C |
2: 126,700,329 (GRCm39) |
|
probably benign |
Het |
| Ttll7 |
C |
T |
3: 146,636,170 (GRCm39) |
R438* |
probably null |
Het |
| Usp11 |
G |
T |
X: 20,584,031 (GRCm39) |
G601W |
probably damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,833,984 (GRCm39) |
T551A |
possibly damaging |
Het |
| Vmn2r73 |
T |
C |
7: 85,520,871 (GRCm39) |
K366E |
probably benign |
Het |
| Vps33a |
A |
G |
5: 123,707,634 (GRCm39) |
I111T |
possibly 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 |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCAGTGGCTGAGTCTCG -3'
(R):5'- ACCTTGCTACTCACGGTTGAC -3'
Sequencing Primer
(F):5'- AGTCTCGGCACCAGCACTC -3'
(R):5'- ACGAGGCACCTTTGAGTG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation