Incidental Mutation 'R5835:Rab44'
| ID |
449568 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab44
|
| Ensembl Gene |
ENSMUSG00000064147 |
| Gene Name |
RAB44, member RAS oncogene family |
| Synonyms |
9830134C10Rik |
| MMRRC Submission |
044056-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R5835 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
29333119-29367954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29367212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 714
(H714L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087942]
|
| AlphaFold |
Q8CB87 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087942
AA Change: H714L
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000085253
Gene: ENSMUSG00000064147
AA Change: H714L
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| A2m |
A |
G |
6: 121,616,295 (GRCm39) |
K141R |
probably damaging |
Het |
| Ablim3 |
T |
C |
18: 61,956,993 (GRCm39) |
E278G |
probably damaging |
Het |
| Adam28 |
A |
G |
14: 68,893,130 (GRCm39) |
W4R |
possibly damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,742,230 (GRCm39) |
N614S |
possibly damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,230,964 (GRCm39) |
S1182P |
probably damaging |
Het |
| Asb8 |
A |
T |
15: 98,034,263 (GRCm39) |
D97E |
probably damaging |
Het |
| AU041133 |
T |
A |
10: 81,987,046 (GRCm39) |
L232H |
probably damaging |
Het |
| Bmp2k |
T |
G |
5: 97,204,841 (GRCm39) |
V392G |
possibly damaging |
Het |
| Capn12 |
C |
A |
7: 28,581,383 (GRCm39) |
H79N |
probably benign |
Het |
| Casp2 |
C |
A |
6: 42,244,520 (GRCm39) |
S54R |
possibly damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,288,740 (GRCm39) |
S163P |
possibly damaging |
Het |
| Ccdc92b |
A |
G |
11: 74,528,838 (GRCm39) |
E114G |
probably benign |
Het |
| Cd209c |
C |
A |
8: 3,995,699 (GRCm39) |
M34I |
probably benign |
Het |
| Ceacam18 |
A |
T |
7: 43,286,382 (GRCm39) |
H85L |
probably benign |
Het |
| Cndp1 |
C |
A |
18: 84,630,958 (GRCm39) |
A434S |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,851,129 (GRCm39) |
T1581S |
probably benign |
Het |
| Cyb5d2 |
A |
T |
11: 72,680,036 (GRCm39) |
D86E |
probably damaging |
Het |
| Duox1 |
T |
G |
2: 122,158,341 (GRCm39) |
V608G |
probably benign |
Het |
| Exosc10 |
A |
G |
4: 148,649,844 (GRCm39) |
R425G |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 16,287,129 (GRCm39) |
I798N |
probably damaging |
Het |
| Habp2 |
T |
A |
19: 56,295,218 (GRCm39) |
D36E |
probably benign |
Het |
| Herpud1 |
T |
C |
8: 95,118,867 (GRCm39) |
V207A |
probably damaging |
Het |
| Htt |
A |
G |
5: 34,970,534 (GRCm39) |
I561V |
probably benign |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Igkv18-36 |
A |
G |
6: 69,969,512 (GRCm39) |
I93T |
probably damaging |
Het |
| Kalrn |
T |
G |
16: 33,807,461 (GRCm39) |
E2636A |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,460,960 (GRCm39) |
|
probably null |
Het |
| Mep1a |
G |
A |
17: 43,789,055 (GRCm39) |
H574Y |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,187,864 (GRCm39) |
K1197E |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,892,907 (GRCm39) |
T6780A |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,932,953 (GRCm39) |
V4808M |
probably damaging |
Het |
| Or6c210 |
A |
G |
10: 129,495,803 (GRCm39) |
I43V |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,271,307 (GRCm39) |
D3082G |
probably benign |
Het |
| Plch1 |
T |
C |
3: 63,604,943 (GRCm39) |
M1645V |
probably benign |
Het |
| Ppip5k1 |
A |
G |
2: 121,168,380 (GRCm39) |
V674A |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,096,485 (GRCm39) |
S619T |
probably benign |
Het |
| Rybp |
A |
G |
6: 100,210,151 (GRCm39) |
Y70H |
possibly damaging |
Het |
| Sfrp1 |
A |
G |
8: 23,936,260 (GRCm39) |
K234R |
possibly damaging |
Het |
| Slc1a2 |
A |
G |
2: 102,607,795 (GRCm39) |
N481S |
probably damaging |
Het |
| Slc44a3 |
T |
G |
3: 121,320,849 (GRCm39) |
I51L |
probably benign |
Het |
| Slitrk1 |
A |
G |
14: 109,149,004 (GRCm39) |
F569S |
possibly damaging |
Het |
| Smurf2 |
A |
T |
11: 106,726,974 (GRCm39) |
N451K |
probably damaging |
Het |
| Sptbn2 |
T |
A |
19: 4,788,247 (GRCm39) |
D1075E |
probably damaging |
Het |
| Syngap1 |
A |
T |
17: 27,177,192 (GRCm39) |
H65L |
probably benign |
Het |
| Tdrd12 |
T |
C |
7: 35,228,689 (GRCm39) |
D11G |
probably damaging |
Het |
| Tex2 |
C |
T |
11: 106,410,739 (GRCm39) |
A926T |
unknown |
Het |
| Tm7sf2 |
A |
G |
19: 6,113,914 (GRCm39) |
F209S |
probably damaging |
Het |
| Trbv12-2 |
G |
A |
6: 41,095,774 (GRCm39) |
|
probably benign |
Het |
| Virma |
T |
A |
4: 11,514,036 (GRCm39) |
L630H |
probably damaging |
Het |
| Vmn1r68 |
A |
G |
7: 10,261,747 (GRCm39) |
I117T |
possibly damaging |
Het |
| Zan |
C |
A |
5: 137,454,917 (GRCm39) |
R1373L |
unknown |
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 |
|
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'- CACTTGCACGCACATGTTG -3'
(R):5'- CCCCTGGTATGTTTGCTCAG -3'
Sequencing Primer
(F):5'- ACATGTTGCTTGGCACCCAG -3'
(R):5'- CTCAGTGGAGCAGAGGTGAC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation