Incidental Mutation 'R4474:Rab22a'
| ID |
330478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab22a
|
| Ensembl Gene |
ENSMUSG00000027519 |
| Gene Name |
RAB22A, member RAS oncogene family |
| Synonyms |
3732413A17Rik, E130120E14Rik, Rab22 |
| MMRRC Submission |
041731-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4474 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
173501638-173543975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 173537056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 85
(T85M)
|
| 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: T92M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000029024
Gene: ENSMUSG00000027519
AA Change: T92M
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
6 |
169 |
1.96e-72 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109110
AA Change: T85M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104738
Gene: ENSMUSG00000027519
AA Change: T85M
| 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 |
possibly damaging
Transcript: ENSMUST00000142820
AA Change: R65C
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000122799
Gene: ENSMUSG00000027519
AA Change: R65C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
7 |
61 |
1.1e-11 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
95% (36/38) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,124,598 (GRCm39) |
I397K |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,667 (GRCm39) |
T779A |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,146,865 (GRCm39) |
A2795D |
probably damaging |
Het |
| Cdk19 |
G |
A |
10: 40,345,952 (GRCm39) |
|
probably null |
Het |
| Cep104 |
T |
A |
4: 154,073,693 (GRCm39) |
M476K |
possibly damaging |
Het |
| Csf1 |
T |
C |
3: 107,661,172 (GRCm39) |
D115G |
probably damaging |
Het |
| Dclre1b |
C |
A |
3: 103,714,559 (GRCm39) |
|
probably benign |
Het |
| Fbp1 |
A |
G |
13: 63,023,075 (GRCm39) |
L74P |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hydin |
G |
T |
8: 111,290,497 (GRCm39) |
V3319L |
probably benign |
Het |
| Kcna4 |
A |
G |
2: 107,126,352 (GRCm39) |
N362S |
probably benign |
Het |
| Kif13a |
C |
T |
13: 46,967,631 (GRCm39) |
|
probably null |
Het |
| Lingo2 |
T |
C |
4: 35,708,810 (GRCm39) |
E390G |
probably benign |
Het |
| Mdh1 |
T |
G |
11: 21,516,624 (GRCm39) |
D33A |
possibly damaging |
Het |
| Mov10 |
C |
T |
3: 104,725,781 (GRCm39) |
G21D |
probably damaging |
Het |
| Muc21 |
G |
T |
17: 35,931,496 (GRCm39) |
|
probably benign |
Het |
| Or4f56 |
G |
A |
2: 111,703,784 (GRCm39) |
R139W |
possibly damaging |
Het |
| Or7g32 |
T |
A |
9: 19,408,173 (GRCm39) |
L43Q |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,610,749 (GRCm39) |
Y332N |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,325,956 (GRCm39) |
S763G |
probably damaging |
Het |
| Sarm1 |
T |
A |
11: 78,387,927 (GRCm39) |
I120L |
probably benign |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Snx31 |
A |
G |
15: 36,546,256 (GRCm39) |
|
probably benign |
Het |
| Tmem150a |
C |
T |
6: 72,334,035 (GRCm39) |
S39F |
probably benign |
Het |
| Tsc2 |
T |
A |
17: 24,816,238 (GRCm39) |
H1605L |
probably damaging |
Het |
| Ugt1a10 |
TAAAAAAAAA |
TAAAAAAA |
1: 88,143,650 (GRCm39) |
|
probably benign |
Het |
| Vmn2r95 |
T |
C |
17: 18,672,507 (GRCm39) |
L820P |
probably damaging |
Het |
| Zfp36l3 |
T |
C |
X: 52,777,924 (GRCm39) |
N97D |
possibly 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 |
|
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'- TGTGCAGGGATAATGGACTTC -3'
(R):5'- ACCCTGGATGTGGCTCATTAG -3'
Sequencing Primer
(F):5'- GCTAAAAGGACATCTTTCCCTG -3'
(R):5'- CCCTGGATGTGGCTCATTAGAAAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation