Incidental Mutation 'R3709:Rab44'
| ID |
259514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab44
|
| Ensembl Gene |
ENSMUSG00000064147 |
| Gene Name |
RAB44, member RAS oncogene family |
| Synonyms |
9830134C10Rik |
| MMRRC Submission |
040702-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R3709 (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 29358843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 344
(P344S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087942]
|
| AlphaFold |
Q8CB87 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087942
AA Change: P344S
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000085253
Gene: ENSMUSG00000064147
AA Change: P344S
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
T |
G |
11: 48,910,480 (GRCm39) |
D651A |
probably damaging |
Het |
| Abcb1a |
A |
G |
5: 8,788,738 (GRCm39) |
N1039S |
probably benign |
Het |
| Abcc2 |
G |
T |
19: 43,786,885 (GRCm39) |
V169F |
possibly damaging |
Het |
| Adcy8 |
T |
C |
15: 64,597,384 (GRCm39) |
|
probably benign |
Het |
| Aida |
C |
A |
1: 183,085,610 (GRCm39) |
|
probably null |
Het |
| Armc8 |
A |
G |
9: 99,402,550 (GRCm39) |
I333T |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Ccdc92b |
C |
A |
11: 74,528,933 (GRCm39) |
R146S |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,892,628 (GRCm39) |
D264G |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,381,009 (GRCm39) |
S2804P |
possibly damaging |
Het |
| Cic |
A |
G |
7: 24,986,406 (GRCm39) |
D1276G |
probably damaging |
Het |
| Cldn19 |
T |
C |
4: 119,114,094 (GRCm39) |
S79P |
possibly damaging |
Het |
| Ctdp1 |
G |
A |
18: 80,493,428 (GRCm39) |
Q356* |
probably null |
Het |
| Cyp2c69 |
A |
G |
19: 39,839,667 (GRCm39) |
|
probably benign |
Het |
| Dhrs3 |
T |
C |
4: 144,620,281 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
T |
A |
18: 25,223,815 (GRCm39) |
W1054R |
probably damaging |
Het |
| Gfral |
G |
A |
9: 76,100,725 (GRCm39) |
R238* |
probably null |
Het |
| Gm10322 |
C |
A |
10: 59,451,941 (GRCm39) |
D19E |
possibly damaging |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Idh3a |
T |
C |
9: 54,493,810 (GRCm39) |
S4P |
possibly damaging |
Het |
| Il15ra |
G |
T |
2: 11,735,458 (GRCm39) |
|
probably null |
Het |
| Ipo8 |
A |
T |
6: 148,707,842 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
G |
A |
7: 80,366,835 (GRCm39) |
T1595I |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 34,212,400 (GRCm39) |
|
probably null |
Het |
| Klrb1a |
T |
C |
6: 128,595,466 (GRCm39) |
D96G |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,587,454 (GRCm39) |
V165M |
unknown |
Het |
| Lrp4 |
A |
C |
2: 91,320,811 (GRCm39) |
T975P |
possibly damaging |
Het |
| Lsm14a |
T |
A |
7: 34,053,204 (GRCm39) |
I283F |
probably damaging |
Het |
| Mael |
T |
C |
1: 166,066,135 (GRCm39) |
D34G |
probably damaging |
Het |
| Map2 |
C |
T |
1: 66,455,015 (GRCm39) |
Q1302* |
probably null |
Het |
| Mctp1 |
T |
C |
13: 76,972,999 (GRCm39) |
|
probably null |
Het |
| Mlxip |
T |
C |
5: 123,585,537 (GRCm39) |
V642A |
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,657,547 (GRCm39) |
E1066G |
possibly damaging |
Het |
| Naa35 |
T |
A |
13: 59,765,846 (GRCm39) |
|
probably benign |
Het |
| Nacc1 |
T |
A |
8: 85,403,828 (GRCm39) |
I16F |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,963,645 (GRCm39) |
N499K |
probably benign |
Het |
| Or10ab4 |
A |
G |
7: 107,655,004 (GRCm39) |
M272V |
possibly damaging |
Het |
| Osbpl10 |
C |
A |
9: 115,036,655 (GRCm39) |
P253Q |
probably benign |
Het |
| Ptpn21 |
G |
T |
12: 98,654,800 (GRCm39) |
S722R |
probably benign |
Het |
| Rbms2 |
C |
T |
10: 127,979,312 (GRCm39) |
R139Q |
probably damaging |
Het |
| Sh3bp2 |
T |
C |
5: 34,709,002 (GRCm39) |
Y32H |
probably damaging |
Het |
| Slc6a15 |
A |
G |
10: 103,229,275 (GRCm39) |
I105V |
probably benign |
Het |
| Thumpd3 |
A |
G |
6: 113,032,652 (GRCm39) |
D130G |
possibly damaging |
Het |
| Trib1 |
A |
G |
15: 59,526,210 (GRCm39) |
Y260C |
probably damaging |
Het |
| Tsks |
G |
T |
7: 44,601,309 (GRCm39) |
R208L |
possibly damaging |
Het |
| Ttn |
G |
T |
2: 76,577,585 (GRCm39) |
S22690* |
probably null |
Het |
| Ttyh2 |
T |
G |
11: 114,609,958 (GRCm39) |
S510A |
possibly damaging |
Het |
| Was |
G |
T |
X: 7,952,927 (GRCm39) |
S271R |
probably benign |
Het |
| Zfp267 |
T |
A |
3: 36,213,725 (GRCm39) |
C20S |
possibly damaging |
Het |
| Zfp472 |
T |
A |
17: 33,196,685 (GRCm39) |
Y253* |
probably null |
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 |
|
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'- TCTGGGTGACAAGAGCCTTTG -3'
(R):5'- GGTGATTCCATGCTCCTAGC -3'
Sequencing Primer
(F):5'- GACCTGAAGCTGGGTTT -3'
(R):5'- TAGCTTCCAGGCCATGAGACTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation