Incidental Mutation 'IGL03113:Rab22a'
ID |
419258 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL03113
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
173501638-173543975 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 173503265 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 26
(V26E)
|
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: V26E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029024 Gene: ENSMUSG00000027519 AA Change: V26E
Domain | Start | End | E-Value | Type |
RAB
|
6 |
169 |
1.96e-72 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109110
AA Change: V26E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104738 Gene: ENSMUSG00000027519 AA Change: V26E
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 damaging
Transcript: ENSMUST00000142820
AA Change: V26E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000122799 Gene: ENSMUSG00000027519 AA Change: V26E
Domain | Start | End | E-Value | Type |
Pfam:Ras
|
7 |
61 |
1.1e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151763
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148111
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153162
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148213
|
Coding Region Coverage |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apof |
G |
A |
10: 128,105,568 (GRCm39) |
V241M |
probably benign |
Het |
Arhgef10 |
T |
A |
8: 15,004,505 (GRCm39) |
I91N |
probably damaging |
Het |
Arhgef17 |
G |
A |
7: 100,578,938 (GRCm39) |
T670I |
probably benign |
Het |
Barhl1 |
T |
C |
2: 28,805,468 (GRCm39) |
D75G |
probably benign |
Het |
Capn13 |
T |
C |
17: 73,638,108 (GRCm39) |
T432A |
probably benign |
Het |
Casd1 |
T |
A |
6: 4,640,951 (GRCm39) |
Y691N |
probably damaging |
Het |
Ccdc175 |
C |
A |
12: 72,191,557 (GRCm39) |
V340L |
probably benign |
Het |
Cdc5l |
A |
T |
17: 45,744,348 (GRCm39) |
M5K |
possibly damaging |
Het |
Cgn |
A |
G |
3: 94,686,544 (GRCm39) |
F253L |
probably benign |
Het |
Csmd1 |
T |
C |
8: 16,078,712 (GRCm39) |
K2003R |
probably benign |
Het |
Disp2 |
T |
A |
2: 118,621,259 (GRCm39) |
|
probably null |
Het |
Dnah7a |
T |
C |
1: 53,472,163 (GRCm39) |
N3535D |
possibly damaging |
Het |
Exoc3 |
G |
A |
13: 74,341,232 (GRCm39) |
Q191* |
probably null |
Het |
Fstl5 |
T |
A |
3: 76,337,099 (GRCm39) |
Y219* |
probably null |
Het |
Gad2 |
T |
A |
2: 22,571,367 (GRCm39) |
L435Q |
probably benign |
Het |
Gcnt3 |
A |
G |
9: 69,941,983 (GRCm39) |
V195A |
probably damaging |
Het |
Haus6 |
G |
A |
4: 86,501,343 (GRCm39) |
Q843* |
probably null |
Het |
Hivep2 |
T |
A |
10: 14,006,395 (GRCm39) |
F998I |
probably damaging |
Het |
Hsf5 |
A |
T |
11: 87,548,190 (GRCm39) |
E624D |
probably benign |
Het |
Klb |
A |
G |
5: 65,540,813 (GRCm39) |
N969D |
probably benign |
Het |
Klhl6 |
T |
A |
16: 19,776,001 (GRCm39) |
S186C |
possibly damaging |
Het |
Klk15 |
T |
C |
7: 43,587,805 (GRCm39) |
F78L |
probably benign |
Het |
Ldlr |
A |
G |
9: 21,651,124 (GRCm39) |
E514G |
possibly damaging |
Het |
Map9 |
T |
A |
3: 82,267,285 (GRCm39) |
|
probably benign |
Het |
Miga2 |
A |
T |
2: 30,274,022 (GRCm39) |
I99F |
possibly damaging |
Het |
Morc4 |
T |
C |
X: 138,758,605 (GRCm39) |
E189G |
probably benign |
Het |
Nhlrc3 |
A |
T |
3: 53,365,984 (GRCm39) |
Y170N |
possibly damaging |
Het |
Or3a1b |
G |
A |
11: 74,012,529 (GRCm39) |
R138Q |
probably benign |
Het |
Or4c111 |
A |
G |
2: 88,844,379 (GRCm39) |
F10L |
probably damaging |
Het |
Or51b6b |
A |
T |
7: 103,309,851 (GRCm39) |
V202D |
possibly damaging |
Het |
Or52u1 |
A |
T |
7: 104,237,940 (GRCm39) |
R310W |
probably benign |
Het |
Or5o1 |
T |
A |
X: 48,815,939 (GRCm39) |
N291Y |
probably damaging |
Het |
Or5w15 |
T |
C |
2: 87,568,506 (GRCm39) |
Q54R |
probably benign |
Het |
Or8g32 |
A |
C |
9: 39,305,981 (GRCm39) |
K295T |
probably damaging |
Het |
Pkd1l1 |
G |
A |
11: 8,784,793 (GRCm39) |
T1997I |
probably benign |
Het |
Poln |
A |
G |
5: 34,274,206 (GRCm39) |
S377P |
probably benign |
Het |
Rhbdl3 |
T |
C |
11: 80,244,439 (GRCm39) |
V382A |
possibly damaging |
Het |
Slitrk3 |
G |
T |
3: 72,957,723 (GRCm39) |
Q350K |
probably benign |
Het |
Sult1d1 |
A |
T |
5: 87,707,738 (GRCm39) |
Y127* |
probably null |
Het |
Vmn1r73 |
A |
T |
7: 11,490,527 (GRCm39) |
Y115F |
probably benign |
Het |
Zfp128 |
T |
A |
7: 12,624,314 (GRCm39) |
D227E |
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 |
|
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 |
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 |
|
|
Posted On |
2016-08-02 |