Incidental Mutation 'R3500:Rab44'
| ID |
273780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab44
|
| Ensembl Gene |
ENSMUSG00000064147 |
| Gene Name |
RAB44, member RAS oncogene family |
| Synonyms |
9830134C10Rik |
| MMRRC Submission |
040663-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R3500 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
29333119-29367954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 29357041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 57
(A57V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087942]
|
| AlphaFold |
Q8CB87 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087942
AA Change: A57V
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000085253
Gene: ENSMUSG00000064147
AA Change: A57V
| 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 |
0.0772 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amhr2 |
A |
G |
15: 102,355,501 (GRCm39) |
D188G |
probably benign |
Het |
| Arl15 |
G |
A |
13: 114,104,228 (GRCm39) |
E102K |
probably damaging |
Het |
| Atp10d |
C |
T |
5: 72,403,066 (GRCm39) |
R319C |
probably damaging |
Het |
| Cetn4 |
A |
T |
3: 37,364,109 (GRCm39) |
F34I |
probably benign |
Het |
| Chd8 |
G |
T |
14: 52,443,110 (GRCm39) |
H510N |
probably benign |
Het |
| Chil5 |
T |
C |
3: 105,925,536 (GRCm39) |
D157G |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,269,929 (GRCm39) |
S251P |
probably damaging |
Het |
| Clstn3 |
A |
T |
6: 124,408,670 (GRCm39) |
C881S |
probably benign |
Het |
| Cnot4 |
G |
A |
6: 35,057,076 (GRCm39) |
|
probably benign |
Het |
| Copg1 |
G |
A |
6: 87,872,905 (GRCm39) |
|
probably benign |
Het |
| Czib |
C |
T |
4: 107,748,710 (GRCm39) |
R83W |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,735,006 (GRCm39) |
M631T |
probably damaging |
Het |
| Elavl3 |
A |
G |
9: 21,930,040 (GRCm39) |
V288A |
probably damaging |
Het |
| Fancb |
A |
G |
X: 163,779,104 (GRCm39) |
T721A |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,151,342 (GRCm39) |
F3800S |
probably damaging |
Het |
| Fgd2 |
T |
C |
17: 29,584,575 (GRCm39) |
V173A |
possibly damaging |
Het |
| Gabrr1 |
T |
C |
4: 33,158,184 (GRCm39) |
|
probably benign |
Het |
| Gata4 |
C |
T |
14: 63,437,982 (GRCm39) |
G390S |
possibly damaging |
Het |
| Gm9396 |
C |
A |
3: 129,862,144 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2 |
T |
C |
6: 63,480,383 (GRCm39) |
S66P |
probably damaging |
Het |
| Hdac9 |
C |
A |
12: 34,487,352 (GRCm39) |
M16I |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,504,477 (GRCm39) |
D3610E |
probably benign |
Het |
| Lactb2 |
A |
T |
1: 13,730,673 (GRCm39) |
M1K |
probably null |
Het |
| Ldhb |
T |
C |
6: 142,447,173 (GRCm39) |
D47G |
probably damaging |
Het |
| Map3k11 |
A |
T |
19: 5,740,275 (GRCm39) |
M1L |
probably benign |
Het |
| Mecom |
C |
T |
3: 30,035,061 (GRCm39) |
R205H |
probably damaging |
Het |
| Mob1b |
A |
G |
5: 88,897,479 (GRCm39) |
D129G |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,588,431 (GRCm39) |
V2436A |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,215,797 (GRCm39) |
N170S |
probably damaging |
Het |
| Nedd4l |
G |
A |
18: 65,345,931 (GRCm39) |
A848T |
probably damaging |
Het |
| Nr5a1 |
G |
A |
2: 38,597,952 (GRCm39) |
R282* |
probably null |
Het |
| Or4c102 |
A |
G |
2: 88,422,285 (GRCm39) |
T46A |
probably damaging |
Het |
| Or4c119 |
C |
T |
2: 88,987,403 (GRCm39) |
G39R |
probably damaging |
Het |
| Or4d10c |
A |
G |
19: 12,065,421 (GRCm39) |
V245A |
possibly damaging |
Het |
| Or4f47 |
T |
C |
2: 111,972,472 (GRCm39) |
F61L |
possibly damaging |
Het |
| Or52e2 |
T |
C |
7: 102,804,297 (GRCm39) |
Y219C |
probably damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,630,532 (GRCm39) |
L109* |
probably null |
Het |
| Plcg2 |
A |
G |
8: 118,339,717 (GRCm39) |
M1043V |
probably benign |
Het |
| Podxl2 |
T |
C |
6: 88,819,900 (GRCm39) |
D554G |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,587,273 (GRCm39) |
T252A |
probably benign |
Het |
| Pramel6 |
A |
G |
2: 87,339,569 (GRCm39) |
H111R |
probably damaging |
Het |
| Prr19 |
A |
G |
7: 25,002,692 (GRCm39) |
E130G |
probably damaging |
Het |
| Rhbdl3 |
T |
C |
11: 80,210,531 (GRCm39) |
F95L |
probably damaging |
Het |
| Sdk1 |
G |
T |
5: 141,992,371 (GRCm39) |
|
probably benign |
Het |
| Tas2r122 |
T |
A |
6: 132,688,523 (GRCm39) |
K123N |
probably damaging |
Het |
| Tbpl2 |
C |
T |
2: 23,977,151 (GRCm39) |
R289Q |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,768,136 (GRCm39) |
F788L |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,560,628 (GRCm39) |
L29258F |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,591,509 (GRCm39) |
F19307L |
possibly damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,690,129 (GRCm39) |
I335T |
possibly 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 |
|
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 |
|
|
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'- TTGAAAAGCTACCTCCCATCCAATTG -3'
(R):5'- TCTGTGGAGAGCAGCCTTTC -3'
Sequencing Primer
(F):5'- CCAATTGGACTGTTTAAGCTGG -3'
(R):5'- TTTCCCGGCTCCGAGGAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation