Incidental Mutation 'IGL02402:Rab44'
| ID |
291916 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rab44
|
| Ensembl Gene |
ENSMUSG00000064147 |
| Gene Name |
RAB44, member RAS oncogene family |
| Synonyms |
9830134C10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL02402
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
29333119-29367954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29359490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 559
(H559Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087942]
|
| AlphaFold |
Q8CB87 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087942
AA Change: H559Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000085253
Gene: ENSMUSG00000064147
AA Change: H559Q
| 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: ENSMUST00000139931
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147311
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,707,543 (GRCm39) |
F568L |
probably benign |
Het |
| AW112010 |
T |
A |
19: 11,025,741 (GRCm39) |
|
noncoding transcript |
Het |
| Bbs4 |
A |
T |
9: 59,237,729 (GRCm39) |
L205H |
probably benign |
Het |
| Bmal2 |
T |
C |
6: 146,711,266 (GRCm39) |
V90A |
possibly damaging |
Het |
| C2cd2l |
T |
C |
9: 44,227,878 (GRCm39) |
K121R |
probably benign |
Het |
| Car14 |
A |
G |
3: 95,806,870 (GRCm39) |
V198A |
possibly damaging |
Het |
| Cd22 |
G |
T |
7: 30,576,955 (GRCm39) |
H117Q |
possibly damaging |
Het |
| Celf1 |
T |
A |
2: 90,829,068 (GRCm39) |
I45N |
probably damaging |
Het |
| Cluh |
T |
C |
11: 74,547,997 (GRCm39) |
S103P |
probably damaging |
Het |
| Cyp39a1 |
T |
A |
17: 44,002,613 (GRCm39) |
L276Q |
probably benign |
Het |
| Ddx27 |
T |
G |
2: 166,857,245 (GRCm39) |
|
probably benign |
Het |
| Defb4 |
A |
T |
8: 19,251,279 (GRCm39) |
I49F |
possibly damaging |
Het |
| Dock8 |
C |
A |
19: 25,055,509 (GRCm39) |
T157K |
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,839,541 (GRCm39) |
V352A |
probably damaging |
Het |
| Elmo2 |
C |
T |
2: 165,139,312 (GRCm39) |
E412K |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,541,733 (GRCm39) |
P30S |
possibly damaging |
Het |
| Espnl |
G |
T |
1: 91,272,535 (GRCm39) |
A632S |
probably benign |
Het |
| Gfod1 |
C |
A |
13: 43,354,211 (GRCm39) |
A255S |
probably benign |
Het |
| Helz2 |
T |
A |
2: 180,872,704 (GRCm39) |
K2432M |
probably damaging |
Het |
| Idua |
T |
C |
5: 108,827,657 (GRCm39) |
L157P |
probably damaging |
Het |
| Ifi207 |
T |
A |
1: 173,555,159 (GRCm39) |
D848V |
probably damaging |
Het |
| Jag1 |
C |
T |
2: 136,927,858 (GRCm39) |
S851N |
possibly damaging |
Het |
| Kat6b |
T |
A |
14: 21,681,415 (GRCm39) |
F571I |
probably damaging |
Het |
| Lrrc74b |
G |
A |
16: 17,376,028 (GRCm39) |
|
probably benign |
Het |
| Mst1r |
A |
G |
9: 107,794,026 (GRCm39) |
K1160E |
probably damaging |
Het |
| Muc19 |
C |
A |
15: 91,778,192 (GRCm39) |
|
noncoding transcript |
Het |
| Nrg4 |
G |
A |
9: 55,135,198 (GRCm39) |
|
probably benign |
Het |
| Ociad1 |
T |
C |
5: 73,458,037 (GRCm39) |
I12T |
possibly damaging |
Het |
| Or1o3 |
A |
G |
17: 37,574,111 (GRCm39) |
V148A |
possibly damaging |
Het |
| Pold3 |
A |
G |
7: 99,749,618 (GRCm39) |
|
probably benign |
Het |
| Psmd5 |
T |
C |
2: 34,747,784 (GRCm39) |
E291G |
probably damaging |
Het |
| Ptpn23 |
A |
G |
9: 110,222,781 (GRCm39) |
V92A |
possibly damaging |
Het |
| Rbm6 |
T |
C |
9: 107,730,051 (GRCm39) |
D199G |
probably damaging |
Het |
| Rps18-ps3 |
C |
T |
8: 107,989,754 (GRCm39) |
|
noncoding transcript |
Het |
| Septin10 |
T |
C |
10: 59,006,758 (GRCm39) |
T93A |
probably benign |
Het |
| Slmap |
T |
C |
14: 26,184,865 (GRCm39) |
T111A |
probably damaging |
Het |
| Spata25 |
C |
T |
2: 164,670,377 (GRCm39) |
M1I |
probably null |
Het |
| Spink5 |
T |
A |
18: 44,100,171 (GRCm39) |
C63S |
probably damaging |
Het |
| Sycp3 |
T |
C |
10: 88,302,425 (GRCm39) |
|
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,177,567 (GRCm39) |
|
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,891,716 (GRCm39) |
N940K |
probably benign |
Het |
| Tmem106b |
A |
T |
6: 13,081,600 (GRCm39) |
Q169L |
possibly damaging |
Het |
| Trpm6 |
G |
T |
19: 18,764,120 (GRCm39) |
C242F |
probably benign |
Het |
| Ush2a |
T |
A |
1: 187,999,305 (GRCm39) |
M205K |
probably benign |
Het |
| Utp18 |
A |
C |
11: 93,774,617 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R1706:Rab44
|
UTSW |
17 |
29,357,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation