Incidental Mutation 'R5163:Rab22a'
ID |
397085 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rab22a
|
Ensembl Gene |
ENSMUSG00000027519 |
Gene Name |
RAB22A, member RAS oncogene family |
Synonyms |
3732413A17Rik, E130120E14Rik, Rab22 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5163 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
173501638-173543975 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 173503280 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 31
(D31G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104738
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029024]
[ENSMUST00000109110]
[ENSMUST00000142820]
|
AlphaFold |
P35285 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029024
AA Change: D31G
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000029024 Gene: ENSMUSG00000027519 AA Change: D31G
Domain | Start | End | E-Value | Type |
RAB
|
6 |
169 |
1.96e-72 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109110
AA Change: D31G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104738 Gene: ENSMUSG00000027519 AA Change: D31G
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 |
noncoding transcript
Transcript: ENSMUST00000133185
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140992
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141051
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142320
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142820
AA Change: D31G
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000122799 Gene: ENSMUSG00000027519 AA Change: D31G
Domain | Start | End | E-Value | Type |
Pfam:Ras
|
7 |
61 |
1.1e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148213
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151763
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148111
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153162
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Bcor |
C |
T |
X: 11,906,725 (GRCm39) |
R1551Q |
probably damaging |
Het |
Btbd19 |
T |
G |
4: 116,978,628 (GRCm39) |
I152L |
probably damaging |
Het |
Dnaaf11 |
T |
C |
15: 66,314,067 (GRCm39) |
D311G |
probably benign |
Het |
Dync2i1 |
C |
T |
12: 116,219,486 (GRCm39) |
R152H |
possibly damaging |
Het |
Ercc6l2 |
A |
G |
13: 64,046,845 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
G |
3: 39,034,946 (GRCm39) |
D2866G |
probably damaging |
Het |
Fkbp10 |
C |
T |
11: 100,313,925 (GRCm39) |
A311V |
probably benign |
Het |
Fnbp1l |
T |
C |
3: 122,338,312 (GRCm39) |
N511S |
probably benign |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gltp |
A |
G |
5: 114,812,122 (GRCm39) |
I147T |
probably benign |
Het |
Gpr37 |
A |
T |
6: 25,669,614 (GRCm39) |
I410N |
possibly damaging |
Het |
Hivep2 |
G |
A |
10: 14,015,169 (GRCm39) |
G1779R |
probably damaging |
Het |
Ifna14 |
T |
C |
4: 88,489,599 (GRCm39) |
Y146C |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,449,432 (GRCm39) |
D662G |
possibly damaging |
Het |
Lrrc9 |
A |
T |
12: 72,496,163 (GRCm39) |
I13F |
probably damaging |
Het |
Map2k3 |
T |
A |
11: 60,834,317 (GRCm39) |
I95N |
probably damaging |
Het |
Mark1 |
A |
G |
1: 184,637,807 (GRCm39) |
I594T |
probably damaging |
Het |
Mettl14 |
T |
C |
3: 123,168,474 (GRCm39) |
I189V |
possibly damaging |
Het |
Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
Odf4 |
C |
A |
11: 68,813,672 (GRCm39) |
C133F |
probably damaging |
Het |
Opa1 |
A |
T |
16: 29,416,438 (GRCm39) |
Q106L |
probably damaging |
Het |
Or10d5j |
T |
C |
9: 39,868,216 (GRCm39) |
N5S |
probably damaging |
Het |
Pax4 |
T |
G |
6: 28,446,269 (GRCm39) |
S75R |
probably damaging |
Het |
Ppfibp1 |
T |
A |
6: 146,923,629 (GRCm39) |
|
probably null |
Het |
Ptpn20 |
T |
C |
14: 33,353,068 (GRCm39) |
I269T |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,360,192 (GRCm39) |
Q2161R |
probably damaging |
Het |
Rap1gds1 |
A |
T |
3: 138,664,817 (GRCm39) |
M296K |
probably damaging |
Het |
Rfx1 |
A |
G |
8: 84,819,840 (GRCm39) |
T692A |
probably damaging |
Het |
Sf3b2 |
A |
G |
19: 5,325,165 (GRCm39) |
V769A |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,652,762 (GRCm39) |
F621I |
unknown |
Het |
Spink5 |
A |
C |
18: 44,132,924 (GRCm39) |
R513S |
possibly damaging |
Het |
Srrm2 |
C |
T |
17: 24,038,524 (GRCm39) |
|
probably benign |
Het |
Srrt |
A |
G |
5: 137,295,035 (GRCm39) |
|
probably null |
Het |
Sun3 |
T |
C |
11: 8,973,295 (GRCm39) |
Q134R |
possibly damaging |
Het |
Tpo |
A |
G |
12: 30,155,979 (GRCm39) |
V174A |
probably benign |
Het |
Ucp1 |
A |
G |
8: 84,020,832 (GRCm39) |
R183G |
possibly damaging |
Het |
Vmn2r66 |
A |
G |
7: 84,656,017 (GRCm39) |
V333A |
probably benign |
Het |
Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
Zfp936 |
A |
G |
7: 42,839,664 (GRCm39) |
Q377R |
probably damaging |
Het |
Zkscan2 |
T |
C |
7: 123,099,090 (GRCm39) |
E34G |
probably benign |
Het |
Zup1 |
T |
A |
10: 33,825,439 (GRCm39) |
E14D |
probably damaging |
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 |
R2914:Rab22a
|
UTSW |
2 |
173,537,074 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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'- CTGGCCCCGTAATATAGTTACTTC -3'
(R):5'- AATCATTTTGGGAATGTCAAGACCC -3'
Sequencing Primer
(F):5'- CTTCACTGACTTATTACAGAAGCCTG -3'
(R):5'- GGGAATGTCAAGACCCAGCAATTC -3'
|
Posted On |
2016-06-21 |