Incidental Mutation 'R1706:Rab44'
| ID |
190101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab44
|
| Ensembl Gene |
ENSMUSG00000064147 |
| Gene Name |
RAB44, member RAS oncogene family |
| Synonyms |
9830134C10Rik |
| MMRRC Submission |
039739-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R1706 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
29333119-29367954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 29357080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 70
(T70K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087942]
|
| AlphaFold |
Q8CB87 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087942
AA Change: T70K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085253
Gene: ENSMUSG00000064147
AA Change: T70K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
157 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
276 |
N/A |
INTRINSIC |
|
RAB
|
538 |
701 |
1.11e-53 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132262
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139931
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147311
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
C |
18: 6,624,059 (GRCm39) |
|
probably benign |
Het |
| 4931406C07Rik |
G |
A |
9: 15,209,153 (GRCm39) |
T47I |
probably damaging |
Het |
| Adcy2 |
T |
A |
13: 68,868,865 (GRCm39) |
N558I |
probably damaging |
Het |
| Ago3 |
G |
A |
4: 126,264,085 (GRCm39) |
P374S |
probably damaging |
Het |
| Ak8 |
T |
C |
2: 28,650,007 (GRCm39) |
C345R |
possibly damaging |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| BC005624 |
T |
C |
2: 30,868,922 (GRCm39) |
E84G |
possibly damaging |
Het |
| Cav1 |
T |
C |
6: 17,339,181 (GRCm39) |
F89L |
probably damaging |
Het |
| Cfap206 |
G |
A |
4: 34,688,875 (GRCm39) |
P593L |
probably damaging |
Het |
| Clcn6 |
G |
A |
4: 148,102,025 (GRCm39) |
T353I |
probably benign |
Het |
| Cstl1 |
G |
A |
2: 148,593,079 (GRCm39) |
|
probably null |
Het |
| Cyp2d10 |
A |
C |
15: 82,289,783 (GRCm39) |
S140A |
probably damaging |
Het |
| D130052B06Rik |
G |
A |
11: 33,566,230 (GRCm39) |
R18H |
unknown |
Het |
| Ddi2 |
A |
G |
4: 141,411,308 (GRCm39) |
F535L |
probably benign |
Het |
| Dop1a |
C |
T |
9: 86,436,133 (GRCm39) |
T2383M |
possibly damaging |
Het |
| Duox1 |
A |
G |
2: 122,149,953 (GRCm39) |
T115A |
probably benign |
Het |
| Ercc6l2 |
T |
A |
13: 64,020,272 (GRCm39) |
|
probably benign |
Het |
| Gm7052 |
A |
G |
17: 22,258,823 (GRCm39) |
|
probably benign |
Het |
| Gm9925 |
G |
A |
18: 74,198,573 (GRCm39) |
|
probably benign |
Het |
| Gnas |
T |
A |
2: 174,141,768 (GRCm39) |
S646T |
possibly damaging |
Het |
| Gpatch3 |
T |
A |
4: 133,302,484 (GRCm39) |
C138* |
probably null |
Het |
| Igsf8 |
C |
T |
1: 172,144,972 (GRCm39) |
R100C |
probably damaging |
Het |
| Kcnh3 |
A |
G |
15: 99,135,959 (GRCm39) |
K652R |
possibly damaging |
Het |
| Kcnn4 |
T |
A |
7: 24,074,167 (GRCm39) |
V77E |
probably damaging |
Het |
| Kif13b |
T |
A |
14: 64,998,115 (GRCm39) |
|
probably benign |
Het |
| Lca5l |
T |
C |
16: 95,977,164 (GRCm39) |
N214S |
probably benign |
Het |
| Luc7l3 |
T |
C |
11: 94,188,582 (GRCm39) |
|
probably benign |
Het |
| Lypd3 |
T |
C |
7: 24,339,755 (GRCm39) |
I274T |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,264,377 (GRCm39) |
|
probably null |
Het |
| Mchr1 |
A |
G |
15: 81,121,364 (GRCm39) |
Y38C |
probably damaging |
Het |
| Mia2 |
T |
A |
12: 59,191,552 (GRCm39) |
L716* |
probably null |
Het |
| Mki67 |
A |
G |
7: 135,302,295 (GRCm39) |
L913P |
probably benign |
Het |
| Mug2 |
T |
A |
6: 122,013,191 (GRCm39) |
|
probably benign |
Het |
| Neu3 |
A |
G |
7: 99,472,563 (GRCm39) |
L58P |
probably damaging |
Het |
| Or4p23 |
G |
A |
2: 88,576,482 (GRCm39) |
P250L |
probably damaging |
Het |
| Or8h9 |
A |
T |
2: 86,789,424 (GRCm39) |
I126N |
probably damaging |
Het |
| Pak1ip1 |
T |
C |
13: 41,166,164 (GRCm39) |
V363A |
probably benign |
Het |
| Pcdhb16 |
A |
G |
18: 37,612,705 (GRCm39) |
D555G |
probably benign |
Het |
| Pygb |
G |
A |
2: 150,669,067 (GRCm39) |
G671D |
probably damaging |
Het |
| Rab30 |
A |
T |
7: 92,478,875 (GRCm39) |
I79L |
possibly damaging |
Het |
| Rccd1 |
C |
G |
7: 79,970,411 (GRCm39) |
G69R |
possibly damaging |
Het |
| Sema5b |
T |
C |
16: 35,470,125 (GRCm39) |
V329A |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
| Slc22a14 |
T |
C |
9: 119,010,050 (GRCm39) |
N15S |
probably benign |
Het |
| Smurf2 |
G |
A |
11: 106,715,573 (GRCm39) |
H632Y |
probably damaging |
Het |
| Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Tgm6 |
T |
C |
2: 129,987,079 (GRCm39) |
C516R |
possibly damaging |
Het |
| Tmprss9 |
T |
C |
10: 80,734,021 (GRCm39) |
|
probably benign |
Het |
| Trim67 |
A |
G |
8: 125,521,160 (GRCm39) |
N174S |
probably damaging |
Het |
| Ttc8 |
C |
A |
12: 98,910,142 (GRCm39) |
T123K |
probably benign |
Het |
| Ugt1a7c |
T |
A |
1: 88,023,447 (GRCm39) |
M202K |
probably damaging |
Het |
| Vmn2r7 |
T |
A |
3: 64,598,880 (GRCm39) |
H559L |
possibly damaging |
Het |
| Zfp511 |
A |
G |
7: 139,617,192 (GRCm39) |
D96G |
probably benign |
Het |
| Zfp868 |
A |
G |
8: 70,065,060 (GRCm39) |
Y92H |
probably benign |
Het |
| Zzz3 |
T |
A |
3: 152,154,735 (GRCm39) |
D633E |
probably damaging |
Het |
|
| Other mutations in Rab44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00864:Rab44
|
APN |
17 |
29,358,711 (GRCm39) |
missense |
probably benign |
|
|
IGL01545:Rab44
|
APN |
17 |
29,366,351 (GRCm39) |
missense |
unknown |
|
|
IGL02314:Rab44
|
APN |
17 |
29,358,327 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02402:Rab44
|
APN |
17 |
29,359,490 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02492:Rab44
|
APN |
17 |
29,365,023 (GRCm39) |
splice site |
probably benign |
|
|
R0018:Rab44
|
UTSW |
17 |
29,358,354 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0135:Rab44
|
UTSW |
17 |
29,357,106 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0193:Rab44
|
UTSW |
17 |
29,359,281 (GRCm39) |
missense |
probably benign |
|
|
R0398:Rab44
|
UTSW |
17 |
29,364,344 (GRCm39) |
splice site |
probably benign |
|
|
R0403:Rab44
|
UTSW |
17 |
29,364,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Rab44
|
UTSW |
17 |
29,366,317 (GRCm39) |
splice site |
probably null |
|
|
R0631:Rab44
|
UTSW |
17 |
29,358,118 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0762:Rab44
|
UTSW |
17 |
29,364,244 (GRCm39) |
missense |
unknown |
|
|
R1128:Rab44
|
UTSW |
17 |
29,359,435 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1681:Rab44
|
UTSW |
17 |
29,359,098 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2679:Rab44
|
UTSW |
17 |
29,363,451 (GRCm39) |
splice site |
probably null |
|
|
R3500:Rab44
|
UTSW |
17 |
29,357,041 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3709:Rab44
|
UTSW |
17 |
29,358,843 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4497:Rab44
|
UTSW |
17 |
29,358,871 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4655:Rab44
|
UTSW |
17 |
29,358,168 (GRCm39) |
missense |
probably benign |
|
|
R4833:Rab44
|
UTSW |
17 |
29,355,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4850:Rab44
|
UTSW |
17 |
29,359,063 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4926:Rab44
|
UTSW |
17 |
29,358,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5694:Rab44
|
UTSW |
17 |
29,359,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5694:Rab44
|
UTSW |
17 |
29,364,940 (GRCm39) |
missense |
unknown |
|
|
R5835:Rab44
|
UTSW |
17 |
29,367,212 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6146:Rab44
|
UTSW |
17 |
29,354,391 (GRCm39) |
start gained |
probably benign |
|
|
R6629:Rab44
|
UTSW |
17 |
29,354,754 (GRCm39) |
start gained |
probably benign |
|
|
R6814:Rab44
|
UTSW |
17 |
29,358,784 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6865:Rab44
|
UTSW |
17 |
29,358,201 (GRCm39) |
missense |
probably benign |
|
|
R6872:Rab44
|
UTSW |
17 |
29,358,784 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7032:Rab44
|
UTSW |
17 |
29,359,438 (GRCm39) |
missense |
unknown |
|
|
R7058:Rab44
|
UTSW |
17 |
29,357,150 (GRCm39) |
splice site |
probably null |
|
|
R7207:Rab44
|
UTSW |
17 |
29,357,013 (GRCm39) |
nonsense |
probably null |
|
|
R7218:Rab44
|
UTSW |
17 |
29,358,418 (GRCm39) |
missense |
|
|
|
R7418:Rab44
|
UTSW |
17 |
29,359,470 (GRCm39) |
missense |
unknown |
|
|
R7651:Rab44
|
UTSW |
17 |
29,367,179 (GRCm39) |
missense |
unknown |
|
|
R8336:Rab44
|
UTSW |
17 |
29,367,249 (GRCm39) |
makesense |
probably null |
|
|
R8406:Rab44
|
UTSW |
17 |
29,359,294 (GRCm39) |
missense |
unknown |
|
|
R8534:Rab44
|
UTSW |
17 |
29,363,547 (GRCm39) |
splice site |
probably null |
|
|
R8680:Rab44
|
UTSW |
17 |
29,358,642 (GRCm39) |
nonsense |
probably null |
|
|
R9267:Rab44
|
UTSW |
17 |
29,354,338 (GRCm39) |
start gained |
probably benign |
|
|
R9428:Rab44
|
UTSW |
17 |
29,358,315 (GRCm39) |
missense |
|
|
|
R9438:Rab44
|
UTSW |
17 |
29,364,226 (GRCm39) |
missense |
unknown |
|
|
R9490:Rab44
|
UTSW |
17 |
29,354,065 (GRCm39) |
start gained |
probably benign |
|
|
R9573:Rab44
|
UTSW |
17 |
29,364,277 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTTGAAAAGCTACCTCCCATCC -3'
(R):5'- TGTGAACAGAGACCTAACCGGCTC -3'
Sequencing Primer
(F):5'- TCTCGCCAAAGTCTTGGAG -3'
(R):5'- TTGTCCAGAGAGGGTGGTTAC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation