Incidental Mutation 'R4473:Rab22a'
| ID |
330447 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab22a
|
| Ensembl Gene |
ENSMUSG00000027519 |
| Gene Name |
RAB22A, member RAS oncogene family |
| Synonyms |
3732413A17Rik, E130120E14Rik, Rab22 |
| MMRRC Submission |
041730-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4473 (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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (36/36) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
C |
A |
4: 152,291,313 (GRCm39) |
T93K |
probably damaging |
Het |
| Actg1 |
G |
A |
11: 120,239,085 (GRCm39) |
R2C |
probably benign |
Het |
| Alb |
T |
C |
5: 90,611,912 (GRCm39) |
C114R |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,667 (GRCm39) |
T779A |
probably damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,595,327 (GRCm39) |
S1008T |
probably benign |
Het |
| Corin |
T |
C |
5: 72,496,400 (GRCm39) |
S510G |
probably damaging |
Het |
| D630003M21Rik |
G |
A |
2: 158,055,382 (GRCm39) |
P585L |
probably damaging |
Het |
| Eddm3b |
A |
G |
14: 51,354,236 (GRCm39) |
T75A |
probably benign |
Het |
| Elavl2 |
T |
C |
4: 91,149,246 (GRCm39) |
|
probably null |
Het |
| Erc1 |
G |
T |
6: 119,825,417 (GRCm39) |
|
probably null |
Het |
| Fancf |
A |
G |
7: 51,511,948 (GRCm39) |
C19R |
probably benign |
Het |
| Fastkd2 |
T |
C |
1: 63,770,833 (GRCm39) |
L63P |
probably damaging |
Het |
| Fmo1 |
A |
G |
1: 162,677,732 (GRCm39) |
V128A |
possibly damaging |
Het |
| Ifnar1 |
T |
C |
16: 91,292,058 (GRCm39) |
V133A |
probably damaging |
Het |
| Ighv1-49 |
A |
T |
12: 115,018,959 (GRCm39) |
Y79N |
probably damaging |
Het |
| Klhl23 |
A |
G |
2: 69,654,151 (GRCm39) |
E7G |
possibly damaging |
Het |
| Mthfd2 |
A |
G |
6: 83,287,517 (GRCm39) |
|
probably benign |
Het |
| Or5d35 |
T |
A |
2: 87,855,464 (GRCm39) |
Y133N |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Podnl1 |
A |
T |
8: 84,858,614 (GRCm39) |
I505F |
possibly damaging |
Het |
| Ppp6r3 |
G |
T |
19: 3,561,978 (GRCm39) |
Q228K |
probably damaging |
Het |
| Pramel38 |
A |
G |
5: 94,366,029 (GRCm39) |
N49S |
probably benign |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Skor2 |
C |
T |
18: 76,947,156 (GRCm39) |
P293S |
unknown |
Het |
| Sox18 |
T |
C |
2: 181,312,669 (GRCm39) |
K154R |
probably damaging |
Het |
| Tfpi |
A |
T |
2: 84,288,426 (GRCm39) |
L10Q |
probably null |
Het |
| Trim66 |
A |
T |
7: 109,081,202 (GRCm39) |
I239N |
probably damaging |
Het |
| Ttll1 |
T |
A |
15: 83,376,810 (GRCm39) |
K304N |
probably damaging |
Het |
| Vmn1r5 |
G |
A |
6: 56,962,633 (GRCm39) |
V103I |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,770,789 (GRCm39) |
W6R |
probably benign |
Het |
| Wdr35 |
A |
G |
12: 9,065,995 (GRCm39) |
Y651C |
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 |
|
R2914:Rab22a
|
UTSW |
2 |
173,537,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CTTTTGTGCAGGGATAATGGAC -3'
(R):5'- ACCCTGGATGTGGCTCATTAG -3'
Sequencing Primer
(F):5'- GCTAAAAGGACATCTTTCCCTG -3'
(R):5'- CCCTGGATGTGGCTCATTAGAAAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation