Incidental Mutation 'R6865:Rab44'
| ID |
535887 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab44
|
| Ensembl Gene |
ENSMUSG00000064147 |
| Gene Name |
RAB44, member RAS oncogene family |
| Synonyms |
9830134C10Rik |
| MMRRC Submission |
045027-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R6865 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
29333119-29367954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29358201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 130
(I130F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087942]
|
| AlphaFold |
Q8CB87 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087942
AA Change: I130F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000085253
Gene: ENSMUSG00000064147
AA Change: I130F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
A |
13: 4,320,212 (GRCm39) |
M293L |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,621,683 (GRCm39) |
D723G |
probably benign |
Het |
| Ankrd26 |
T |
C |
6: 118,500,442 (GRCm39) |
R1010G |
possibly damaging |
Het |
| Apob |
G |
A |
12: 8,058,847 (GRCm39) |
R2410H |
probably benign |
Het |
| Auh |
T |
C |
13: 52,992,165 (GRCm39) |
D275G |
probably damaging |
Het |
| Card10 |
G |
T |
15: 78,686,822 (GRCm39) |
D47E |
possibly damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,859,579 (GRCm39) |
|
probably null |
Het |
| Cfap206 |
T |
C |
4: 34,714,448 (GRCm39) |
Y416C |
possibly damaging |
Het |
| Chuk |
A |
T |
19: 44,075,354 (GRCm39) |
Y500* |
probably null |
Het |
| Cop1 |
T |
A |
1: 159,136,524 (GRCm39) |
D536E |
probably damaging |
Het |
| Crh |
G |
C |
3: 19,748,304 (GRCm39) |
P113A |
possibly damaging |
Het |
| Ddx54 |
T |
G |
5: 120,759,892 (GRCm39) |
|
probably null |
Het |
| Efcab7 |
T |
C |
4: 99,769,793 (GRCm39) |
S127P |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,030,442 (GRCm39) |
Y125C |
probably damaging |
Het |
| Fga |
T |
A |
3: 82,938,848 (GRCm39) |
C408S |
probably damaging |
Het |
| Flot2 |
T |
C |
11: 77,940,318 (GRCm39) |
S22P |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,991,672 (GRCm39) |
T675S |
unknown |
Het |
| Foxc1 |
A |
G |
13: 31,992,836 (GRCm39) |
D549G |
unknown |
Het |
| Gldc |
T |
C |
19: 30,111,162 (GRCm39) |
N538S |
possibly damaging |
Het |
| Grk4 |
T |
G |
5: 34,888,894 (GRCm39) |
V346G |
probably damaging |
Het |
| Gucy2c |
T |
C |
6: 136,747,127 (GRCm39) |
R111G |
probably benign |
Het |
| Heatr6 |
C |
T |
11: 83,659,966 (GRCm39) |
H504Y |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,670,013 (GRCm39) |
|
probably null |
Het |
| Msrb1 |
T |
C |
17: 24,955,685 (GRCm39) |
S2P |
possibly damaging |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,464,313 (GRCm39) |
I185V |
probably benign |
Het |
| Myo5c |
T |
C |
9: 75,176,878 (GRCm39) |
S608P |
probably benign |
Het |
| Nek6 |
A |
G |
2: 38,459,678 (GRCm39) |
I174V |
probably benign |
Het |
| Nmt2 |
T |
C |
2: 3,315,766 (GRCm39) |
V252A |
probably damaging |
Het |
| Nudt9 |
G |
T |
5: 104,207,545 (GRCm39) |
R179M |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,383,690 (GRCm39) |
V29A |
possibly damaging |
Het |
| Olah |
T |
C |
2: 3,343,964 (GRCm39) |
D216G |
possibly damaging |
Het |
| Or13c7b |
T |
C |
4: 43,821,346 (GRCm39) |
N5S |
probably benign |
Het |
| Or52n2 |
T |
C |
7: 104,542,719 (GRCm39) |
I39V |
probably benign |
Het |
| Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,795,461 (GRCm39) |
V2318A |
probably benign |
Het |
| Pknox1 |
T |
A |
17: 31,807,534 (GRCm39) |
M51K |
probably damaging |
Het |
| Ppp1r12a |
C |
T |
10: 108,098,242 (GRCm39) |
R321* |
probably null |
Het |
| Pxdn |
A |
G |
12: 30,064,582 (GRCm39) |
|
probably null |
Het |
| Rnf130 |
T |
C |
11: 49,962,091 (GRCm39) |
I179T |
probably damaging |
Het |
| Slc22a28 |
A |
T |
19: 8,041,856 (GRCm39) |
C450* |
probably null |
Het |
| Slco1c1 |
A |
T |
6: 141,485,778 (GRCm39) |
Y136F |
probably damaging |
Het |
| Synj2 |
C |
T |
17: 6,067,844 (GRCm39) |
Q106* |
probably null |
Het |
| Uckl1 |
T |
C |
2: 181,216,286 (GRCm39) |
N138S |
probably damaging |
Het |
| Usp19 |
G |
T |
9: 108,376,018 (GRCm39) |
E203* |
probably null |
Het |
| Vdr |
A |
G |
15: 97,755,386 (GRCm39) |
I379T |
probably damaging |
Het |
| Zfp503 |
C |
A |
14: 22,036,101 (GRCm39) |
G272C |
probably damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,501,558 (GRCm39) |
N1218S |
possibly damaging |
Het |
| Zzz3 |
T |
A |
3: 152,133,690 (GRCm39) |
D249E |
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 |
|
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 |
|
|
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 |
29,364,940 (GRCm39) |
missense |
unknown |
|
|
R5694:Rab44
|
UTSW |
17 |
29,359,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- ACAGGAGGAGTTATGCGACC -3'
(R):5'- GAGCTGACATCCTGTTCATCC -3'
Sequencing Primer
(F):5'- AGGAGTTATGCGACCAGGATTTG -3'
(R):5'- GTTCATCCTGTCCCTTGGGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation