Incidental Mutation 'R4469:Rabggta'
ID |
329337 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rabggta
|
Ensembl Gene |
ENSMUSG00000040472 |
Gene Name |
Rab geranylgeranyl transferase, a subunit |
Synonyms |
|
MMRRC Submission |
041726-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R4469 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
55953321-55959720 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55953944 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 266
(V266A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061498
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002389]
[ENSMUST00000062861]
[ENSMUST00000163889]
[ENSMUST00000168729]
[ENSMUST00000169237]
[ENSMUST00000178034]
[ENSMUST00000227061]
[ENSMUST00000227958]
[ENSMUST00000226907]
[ENSMUST00000228123]
|
AlphaFold |
Q9JHK4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002389
|
SMART Domains |
Protein: ENSMUSP00000002389 Gene: ENSMUSG00000022218
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
45 |
N/A |
INTRINSIC |
low complexity region
|
50 |
63 |
N/A |
INTRINSIC |
low complexity region
|
65 |
95 |
N/A |
INTRINSIC |
Pfam:Transglut_N
|
109 |
228 |
5.5e-35 |
PFAM |
TGc
|
368 |
461 |
1.7e-43 |
SMART |
low complexity region
|
550 |
561 |
N/A |
INTRINSIC |
Pfam:Transglut_C
|
578 |
682 |
1.5e-22 |
PFAM |
Pfam:Transglut_C
|
690 |
787 |
1e-20 |
PFAM |
low complexity region
|
788 |
804 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000062861
AA Change: V266A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000061498 Gene: ENSMUSG00000040472 AA Change: V266A
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: V536A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000128668 Gene: ENSMUSG00000040472 AA Change: V536A
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: ENSMUST00000168729
|
SMART Domains |
Protein: ENSMUSP00000128090 Gene: ENSMUSG00000022218
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
45 |
N/A |
INTRINSIC |
low complexity region
|
50 |
63 |
N/A |
INTRINSIC |
low complexity region
|
65 |
95 |
N/A |
INTRINSIC |
Pfam:Transglut_N
|
109 |
228 |
5.5e-35 |
PFAM |
TGc
|
368 |
461 |
1.7e-43 |
SMART |
low complexity region
|
550 |
561 |
N/A |
INTRINSIC |
Pfam:Transglut_C
|
578 |
682 |
1.5e-22 |
PFAM |
Pfam:Transglut_C
|
690 |
787 |
1e-20 |
PFAM |
low complexity region
|
788 |
804 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169237
AA Change: V536A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000133032 Gene: ENSMUSG00000040472 AA Change: V536A
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 |
probably benign
Transcript: ENSMUST00000178034
|
SMART Domains |
Protein: ENSMUSP00000137642 Gene: ENSMUSG00000022218
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
45 |
N/A |
INTRINSIC |
low complexity region
|
50 |
63 |
N/A |
INTRINSIC |
low complexity region
|
65 |
95 |
N/A |
INTRINSIC |
Pfam:Transglut_N
|
110 |
226 |
1.2e-32 |
PFAM |
TGc
|
368 |
461 |
1.7e-43 |
SMART |
low complexity region
|
550 |
561 |
N/A |
INTRINSIC |
Pfam:Transglut_C
|
578 |
682 |
3.6e-24 |
PFAM |
Pfam:Transglut_C
|
690 |
787 |
1.3e-20 |
PFAM |
low complexity region
|
788 |
804 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227061
AA Change: V536A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227958
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227106
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228826
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226209
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226907
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227132
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228123
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227617
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228604
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228899
|
Meta Mutation Damage Score |
0.0748 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
100% (52/52) |
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 |
4833420G17Rik |
A |
G |
13: 119,606,345 (GRCm39) |
K196E |
probably damaging |
Het |
Ackr1 |
T |
C |
1: 173,160,112 (GRCm39) |
|
probably null |
Het |
Adgra1 |
C |
T |
7: 139,455,977 (GRCm39) |
T535I |
probably damaging |
Het |
Ankrd11 |
A |
G |
8: 123,623,326 (GRCm39) |
Y310H |
probably damaging |
Het |
Arhgef5 |
T |
C |
6: 43,252,033 (GRCm39) |
I928T |
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Asb4 |
C |
A |
6: 5,423,409 (GRCm39) |
F185L |
probably benign |
Het |
Ces2g |
A |
T |
8: 105,692,602 (GRCm39) |
I301F |
probably benign |
Het |
Chd1 |
T |
C |
17: 15,980,657 (GRCm39) |
I1308T |
probably damaging |
Het |
Cntnap4 |
A |
T |
8: 113,391,898 (GRCm39) |
N121I |
probably damaging |
Het |
Csf1 |
C |
T |
3: 107,657,997 (GRCm39) |
|
probably null |
Het |
Dnah7a |
T |
A |
1: 53,483,685 (GRCm39) |
H3364L |
probably benign |
Het |
Dnmt3c |
A |
G |
2: 153,562,280 (GRCm39) |
T555A |
possibly damaging |
Het |
Dst |
A |
G |
1: 34,230,923 (GRCm39) |
T3017A |
probably benign |
Het |
Efcab7 |
A |
G |
4: 99,766,901 (GRCm39) |
D482G |
possibly damaging |
Het |
Fbxl5 |
A |
G |
5: 43,925,528 (GRCm39) |
V154A |
probably damaging |
Het |
Flt3 |
T |
C |
5: 147,312,454 (GRCm39) |
|
silent |
Het |
G6pd2 |
A |
T |
5: 61,966,288 (GRCm39) |
Y21F |
probably benign |
Het |
Gm9376 |
C |
T |
14: 118,505,011 (GRCm39) |
P148S |
probably damaging |
Het |
Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
Gtpbp2 |
A |
G |
17: 46,472,239 (GRCm39) |
Y58C |
probably damaging |
Het |
Hcrtr2 |
T |
A |
9: 76,137,838 (GRCm39) |
T426S |
probably benign |
Het |
Herc3 |
T |
A |
6: 58,853,794 (GRCm39) |
Y613* |
probably null |
Het |
Hsd17b1 |
A |
T |
11: 100,970,838 (GRCm39) |
M265L |
probably benign |
Het |
Ier3ip1 |
A |
G |
18: 77,028,294 (GRCm39) |
|
probably benign |
Het |
Kif11 |
A |
G |
19: 37,404,940 (GRCm39) |
M924V |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lancl2 |
T |
A |
6: 57,690,019 (GRCm39) |
L75H |
probably damaging |
Het |
Mfsd4b1 |
T |
C |
10: 39,888,091 (GRCm39) |
|
probably benign |
Het |
Nlrc5 |
A |
T |
8: 95,247,467 (GRCm39) |
I1588F |
probably damaging |
Het |
Nostrin |
C |
G |
2: 69,006,061 (GRCm39) |
I248M |
probably damaging |
Het |
Or12d14-ps1 |
A |
G |
17: 37,673,528 (GRCm39) |
I170M |
possibly damaging |
Het |
Or14j1 |
T |
C |
17: 38,146,607 (GRCm39) |
L239P |
probably benign |
Het |
Qng1 |
A |
G |
13: 58,530,239 (GRCm39) |
L257P |
probably damaging |
Het |
Ror2 |
G |
A |
13: 53,286,016 (GRCm39) |
T66M |
possibly damaging |
Het |
Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
Skp1 |
C |
T |
11: 52,135,905 (GRCm39) |
T138I |
probably benign |
Het |
Smad9 |
T |
C |
3: 54,690,182 (GRCm39) |
V134A |
probably damaging |
Het |
Snx29 |
T |
A |
16: 11,238,565 (GRCm39) |
|
probably null |
Het |
Sos1 |
A |
G |
17: 80,761,240 (GRCm39) |
I152T |
probably damaging |
Het |
Ssbp2 |
G |
A |
13: 91,842,175 (GRCm39) |
G302D |
probably damaging |
Het |
Stom |
T |
C |
2: 35,211,545 (GRCm39) |
N159D |
possibly damaging |
Het |
Trav16d-dv11 |
A |
G |
14: 53,285,035 (GRCm39) |
K37R |
probably benign |
Het |
Trim75 |
A |
G |
8: 65,436,369 (GRCm39) |
V27A |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,548,105 (GRCm39) |
T32066A |
probably damaging |
Het |
Txndc11 |
T |
C |
16: 10,893,087 (GRCm39) |
H881R |
probably benign |
Het |
Ubp1 |
C |
T |
9: 113,787,775 (GRCm39) |
T222I |
probably benign |
Het |
Unc5cl |
C |
G |
17: 48,766,833 (GRCm39) |
P69R |
possibly damaging |
Het |
Zfp616 |
T |
A |
11: 73,961,950 (GRCm39) |
C24S |
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 |
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 |
R2926:Rabggta
|
UTSW |
14 |
55,956,747 (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'- TTCCAAAATGCACAGTGGTGG -3'
(R):5'- GGCATTCTACAGTCTGTAAGAAACC -3'
Sequencing Primer
(F):5'- CAGCAGTAATGGTAGCTTGGC -3'
(R):5'- GTCTGTAAGAAACCATCAGACTTGC -3'
|
Posted On |
2015-07-21 |