Incidental Mutation 'R2914:Rab22a'
| ID |
254788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab22a
|
| Ensembl Gene |
ENSMUSG00000027519 |
| Gene Name |
RAB22A, member RAS oncogene family |
| Synonyms |
3732413A17Rik, E130120E14Rik, Rab22 |
| MMRRC Submission |
040501-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2914 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
173501638-173543975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 173537074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 98
(N98S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029024]
[ENSMUST00000109110]
[ENSMUST00000142820]
|
| AlphaFold |
P35285 |
| PDB Structure |
GppNHp-Bound Rab22 GTPase [X-RAY DIFFRACTION]
Structure of GTP-Bound Rab22Q64L GTPase in complex with the minimal Rab binding domain of Rabenosyn-5 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029024
AA Change: N98S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000029024
Gene: ENSMUSG00000027519
AA Change: N98S
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
6 |
169 |
1.96e-72 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109110
AA Change: N91S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000104738
Gene: ENSMUSG00000027519
AA Change: N91S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
1 |
159 |
2.7e-8 |
PFAM |
|
Pfam:Miro
|
7 |
114 |
4.3e-14 |
PFAM |
|
Pfam:Ras
|
7 |
161 |
2e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142820
|
| SMART Domains |
Protein: ENSMUSP00000122799
Gene: ENSMUSG00000027519
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
7 |
61 |
1.1e-11 |
PFAM |
|
| Meta Mutation Damage Score |
0.0604 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the RAB family of small GTPases. The GTP-bound form of the encoded protein has been shown to interact with early-endosomal antigen 1, and may be involved in the trafficking of and interaction between endosomal compartments. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
A |
G |
5: 30,401,992 (GRCm39) |
S679P |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cryl1 |
T |
C |
14: 57,513,375 (GRCm39) |
E282G |
probably benign |
Het |
| Dbn1 |
A |
G |
13: 55,630,234 (GRCm39) |
F45L |
probably damaging |
Het |
| Dclre1b |
T |
C |
3: 103,715,430 (GRCm39) |
M105V |
probably damaging |
Het |
| Defb12 |
T |
C |
8: 19,164,830 (GRCm39) |
N3D |
probably benign |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| Fa2h |
T |
C |
8: 112,120,281 (GRCm39) |
D35G |
probably damaging |
Het |
| Fdxacb1 |
C |
T |
9: 50,679,699 (GRCm39) |
A39V |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,881,774 (GRCm39) |
R2502K |
probably benign |
Het |
| Grm1 |
A |
G |
10: 10,955,601 (GRCm39) |
S228P |
probably benign |
Het |
| Il27ra |
T |
A |
8: 84,758,242 (GRCm39) |
|
probably benign |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,962 (GRCm39) |
Q473L |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
| Mael |
A |
T |
1: 166,054,179 (GRCm39) |
F188I |
probably damaging |
Het |
| Mapk4 |
C |
T |
18: 74,068,236 (GRCm39) |
A232T |
probably benign |
Het |
| Mrpl9 |
C |
A |
3: 94,351,108 (GRCm39) |
T96K |
probably damaging |
Het |
| Musk |
C |
A |
4: 58,366,938 (GRCm39) |
L511I |
probably damaging |
Het |
| Mutyh |
G |
A |
4: 116,672,826 (GRCm39) |
D60N |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,954,274 (GRCm39) |
|
probably null |
Het |
| Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
| Otud7b |
C |
A |
3: 96,063,272 (GRCm39) |
A837E |
probably benign |
Het |
| Pigb |
A |
T |
9: 72,947,060 (GRCm39) |
|
probably null |
Het |
| Pip4k2b |
G |
T |
11: 97,613,260 (GRCm39) |
N245K |
probably benign |
Het |
| Ptprd |
T |
A |
4: 75,865,338 (GRCm39) |
D1464V |
probably damaging |
Het |
| Rictor |
G |
T |
15: 6,799,476 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
C |
1: 22,844,711 (GRCm39) |
E32G |
probably damaging |
Het |
| Slx4ip |
A |
G |
2: 136,909,511 (GRCm39) |
|
probably null |
Het |
| Snx19 |
G |
A |
9: 30,344,828 (GRCm39) |
|
probably benign |
Het |
| Snx29 |
C |
T |
16: 11,265,317 (GRCm39) |
R516W |
probably damaging |
Het |
| Tcof1 |
T |
C |
18: 60,949,156 (GRCm39) |
D1253G |
possibly damaging |
Het |
| Tmod1 |
A |
T |
4: 46,092,259 (GRCm39) |
N203I |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,759,078 (GRCm39) |
N880S |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,599,979 (GRCm39) |
I19065N |
probably damaging |
Het |
| Txk |
T |
C |
5: 72,881,794 (GRCm39) |
N154S |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,590,337 (GRCm39) |
|
probably null |
Het |
| Vmn1r65 |
T |
A |
7: 6,012,040 (GRCm39) |
I65F |
possibly damaging |
Het |
| Yes1 |
T |
C |
5: 32,797,926 (GRCm39) |
S82P |
probably benign |
Het |
|
| Other mutations in Rab22a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01061:Rab22a
|
APN |
2 |
173,530,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01889:Rab22a
|
APN |
2 |
173,530,031 (GRCm39) |
intron |
probably benign |
|
|
IGL03113:Rab22a
|
APN |
2 |
173,503,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Rab22a
|
UTSW |
2 |
173,536,963 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0304:Rab22a
|
UTSW |
2 |
173,503,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Rab22a
|
UTSW |
2 |
173,530,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4473:Rab22a
|
UTSW |
2 |
173,537,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4474:Rab22a
|
UTSW |
2 |
173,537,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4476:Rab22a
|
UTSW |
2 |
173,537,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4559:Rab22a
|
UTSW |
2 |
173,503,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5163:Rab22a
|
UTSW |
2 |
173,503,280 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5934:Rab22a
|
UTSW |
2 |
173,503,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Rab22a
|
UTSW |
2 |
173,542,848 (GRCm39) |
missense |
probably benign |
|
|
R7654:Rab22a
|
UTSW |
2 |
173,529,968 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8089:Rab22a
|
UTSW |
2 |
173,530,013 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCAGTTTCGTGCATTGGC -3'
(R):5'- CTTGGAACTTCAGGGCCAAC -3'
Sequencing Primer
(F):5'- TTGGCACCAATGTACTATCGAGG -3'
(R):5'- GGGCCAACCATGTAACACAAG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation