Incidental Mutation 'R6721:Rabggta'
| ID |
529605 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabggta
|
| Ensembl Gene |
ENSMUSG00000040472 |
| Gene Name |
Rab geranylgeranyl transferase, a subunit |
| Synonyms |
|
| MMRRC Submission |
044839-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R6721 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55953321-55959720 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55954660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 507
(L507P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154725
(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 damaging
Transcript: ENSMUST00000062861
AA Change: L237P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061498
Gene: ENSMUSG00000040472
AA Change: L237P
| 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 damaging
Transcript: ENSMUST00000163889
AA Change: L507P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128668
Gene: ENSMUSG00000040472
AA Change: L507P
| 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 damaging
Transcript: ENSMUST00000169237
AA Change: L507P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133032
Gene: ENSMUSG00000040472
AA Change: L507P
| 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 |
noncoding transcript
Transcript: ENSMUST00000226209
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227061
AA Change: L507P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227106
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228826
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228899
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226907
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227617
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227132
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,629,634 (GRCm39) |
L3588S |
probably benign |
Het |
| Ankrd27 |
T |
C |
7: 35,311,976 (GRCm39) |
F402S |
probably damaging |
Het |
| Aplp1 |
T |
C |
7: 30,139,720 (GRCm39) |
Q359R |
probably null |
Het |
| Arhgef10l |
T |
C |
4: 140,297,655 (GRCm39) |
Y546C |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,170,625 (GRCm39) |
Y1615H |
probably damaging |
Het |
| Cd46 |
T |
C |
1: 194,765,939 (GRCm39) |
Y142C |
probably damaging |
Het |
| Cfap418 |
A |
G |
4: 10,874,744 (GRCm39) |
N44D |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,260,045 (GRCm39) |
|
probably benign |
Het |
| Cmtm2b |
A |
G |
8: 105,049,077 (GRCm39) |
S31G |
possibly damaging |
Het |
| CN725425 |
A |
G |
15: 91,115,821 (GRCm39) |
K21R |
possibly damaging |
Het |
| Cngb1 |
T |
C |
8: 95,997,516 (GRCm39) |
T560A |
probably benign |
Het |
| Creb3l3 |
T |
C |
10: 80,926,977 (GRCm39) |
D151G |
probably damaging |
Het |
| Cts7 |
A |
T |
13: 61,504,108 (GRCm39) |
V124E |
probably damaging |
Het |
| Ctsd |
G |
A |
7: 141,930,590 (GRCm39) |
P349S |
possibly damaging |
Het |
| Ern1 |
A |
G |
11: 106,302,478 (GRCm39) |
W459R |
probably damaging |
Het |
| Faxc |
A |
T |
4: 21,982,672 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
T |
C |
17: 37,365,084 (GRCm39) |
I239T |
probably damaging |
Het |
| Galnt12 |
T |
A |
4: 47,122,529 (GRCm39) |
C269* |
probably null |
Het |
| Gmpr2 |
A |
T |
14: 55,910,191 (GRCm39) |
D7V |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,952,296 (GRCm39) |
I204N |
possibly damaging |
Het |
| Il16 |
A |
T |
7: 83,312,270 (GRCm39) |
|
probably null |
Het |
| Jag1 |
T |
C |
2: 136,936,394 (GRCm39) |
T367A |
probably benign |
Het |
| Lefty2 |
T |
C |
1: 180,722,166 (GRCm39) |
V168A |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,034,023 (GRCm39) |
E227G |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,352,729 (GRCm39) |
C739S |
possibly damaging |
Het |
| Npy1r |
T |
A |
8: 67,156,941 (GRCm39) |
C120* |
probably null |
Het |
| Nup153 |
A |
G |
13: 46,854,502 (GRCm39) |
V530A |
probably damaging |
Het |
| Ogfr |
T |
A |
2: 180,237,221 (GRCm39) |
L602Q |
possibly damaging |
Het |
| Or10g7 |
C |
T |
9: 39,905,603 (GRCm39) |
P166S |
possibly damaging |
Het |
| Or10h5 |
C |
T |
17: 33,434,508 (GRCm39) |
G270E |
probably benign |
Het |
| Or7e178 |
A |
C |
9: 20,225,576 (GRCm39) |
D213E |
probably benign |
Het |
| Perm1 |
G |
T |
4: 156,302,776 (GRCm39) |
R440L |
probably benign |
Het |
| Plcb4 |
T |
C |
2: 135,752,157 (GRCm39) |
V121A |
probably benign |
Het |
| Plxna4 |
C |
T |
6: 32,177,794 (GRCm39) |
V1036M |
probably benign |
Het |
| Ppl |
A |
T |
16: 4,925,333 (GRCm39) |
M102K |
probably damaging |
Het |
| Prop1 |
T |
C |
11: 50,844,213 (GRCm39) |
S7G |
probably benign |
Het |
| Sfmbt2 |
A |
G |
2: 10,547,836 (GRCm39) |
T473A |
probably damaging |
Het |
| Spc25 |
A |
C |
2: 69,027,517 (GRCm39) |
M125R |
possibly damaging |
Het |
| Taok3 |
T |
C |
5: 117,393,928 (GRCm39) |
M567T |
probably benign |
Het |
| Tlr3 |
A |
G |
8: 45,851,917 (GRCm39) |
Y327H |
probably benign |
Het |
| Tmem209 |
A |
G |
6: 30,497,174 (GRCm39) |
F339L |
probably benign |
Het |
| U2surp |
T |
C |
9: 95,373,157 (GRCm39) |
N279S |
probably damaging |
Het |
| Ythdf3 |
G |
A |
3: 16,258,025 (GRCm39) |
M61I |
possibly damaging |
Het |
| Zfp647 |
T |
C |
15: 76,796,076 (GRCm39) |
I195V |
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 |
|
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 |
|
|
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'- AGATGACCCTGTCTCTGTGTG -3'
(R):5'- CCTCTGACTACTGCAGGTAAC -3'
Sequencing Primer
(F):5'- GTGGTTTGTCCCCCTGCAG -3'
(R):5'- GACTACTGCAGGTAACCGCTTTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation