Incidental Mutation 'R2866:Rab23'
| ID |
253198 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab23
|
| Ensembl Gene |
ENSMUSG00000004768 |
| Gene Name |
RAB23, member RAS oncogene family |
| Synonyms |
|
| MMRRC Submission |
040455-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2866 (G1)
|
| Quality Score |
206 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
33758968-33781645 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33777376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 163
(K163N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088287]
[ENSMUST00000115174]
[ENSMUST00000138024]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088287
AA Change: K163N
PolyPhen 2
Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000085625
Gene: ENSMUSG00000004768
AA Change: K163N
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
10 |
172 |
7.79e-58 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115174
AA Change: K163N
PolyPhen 2
Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110828
Gene: ENSMUSG00000004768
AA Change: K163N
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
10 |
172 |
7.79e-58 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132066
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138024
|
| SMART Domains |
Protein: ENSMUSP00000137896
Gene: ENSMUSG00000004768
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miro
|
11 |
59 |
1.9e-6 |
PFAM |
|
Pfam:Ras
|
11 |
61 |
6.3e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151482
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a spontaneous allele show neural tube defects, exencephaly, spinal cord and dorsal root ganglia anomalies, malformed eyes and defects in the axial skeleton and developing limbs. Mice homozygous for an ENU-induced allele die in utero with exencephaly, polydactyly and eye defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atmin |
T |
A |
8: 117,683,112 (GRCm39) |
D257E |
probably benign |
Het |
| Best1 |
T |
C |
19: 9,963,585 (GRCm39) |
E532G |
probably benign |
Het |
| Cenpj |
T |
C |
14: 56,789,637 (GRCm39) |
H804R |
probably benign |
Het |
| Clec2g |
T |
C |
6: 128,925,719 (GRCm39) |
S43P |
probably benign |
Het |
| Col8a2 |
A |
G |
4: 126,204,992 (GRCm39) |
|
probably benign |
Het |
| Cpz |
T |
C |
5: 35,659,705 (GRCm39) |
K647E |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,308,185 (GRCm39) |
|
probably null |
Het |
| Ctss |
A |
G |
3: 95,452,717 (GRCm39) |
K166R |
probably benign |
Het |
| Cyp2c23 |
T |
C |
19: 43,993,885 (GRCm39) |
R494G |
probably damaging |
Het |
| Cyp2c68 |
A |
G |
19: 39,677,589 (GRCm39) |
I467T |
probably damaging |
Het |
| Dcaf11 |
A |
T |
14: 55,803,202 (GRCm39) |
T299S |
possibly damaging |
Het |
| Dennd1b |
A |
G |
1: 139,098,019 (GRCm39) |
S762G |
possibly damaging |
Het |
| Epb42 |
C |
T |
2: 120,856,402 (GRCm39) |
A381T |
possibly damaging |
Het |
| Fhad1 |
A |
G |
4: 141,648,099 (GRCm39) |
Y256H |
probably benign |
Het |
| Gfra1 |
C |
T |
19: 58,227,739 (GRCm39) |
A395T |
possibly damaging |
Het |
| Gm10323 |
C |
A |
13: 67,002,574 (GRCm39) |
C55F |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,749,551 (GRCm39) |
S1092G |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 35,284,516 (GRCm39) |
D753V |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,710,637 (GRCm39) |
F970L |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 23,423,275 (GRCm39) |
N682K |
probably benign |
Het |
| Lat2 |
T |
A |
5: 134,634,798 (GRCm39) |
D114V |
probably damaging |
Het |
| Lcat |
C |
T |
8: 106,666,511 (GRCm39) |
C337Y |
probably damaging |
Het |
| Mapk10 |
C |
T |
5: 103,186,548 (GRCm39) |
D25N |
probably benign |
Het |
| Mroh7 |
C |
T |
4: 106,548,287 (GRCm39) |
G1064R |
probably damaging |
Het |
| Muc21 |
T |
C |
17: 35,930,599 (GRCm39) |
|
probably benign |
Het |
| Or10h5 |
T |
A |
17: 33,435,252 (GRCm39) |
H22L |
probably benign |
Het |
| Or51ah3 |
A |
T |
7: 103,210,064 (GRCm39) |
I127F |
probably damaging |
Het |
| Or5p5 |
T |
A |
7: 107,414,126 (GRCm39) |
C112S |
probably benign |
Het |
| Or8k39 |
A |
T |
2: 86,563,773 (GRCm39) |
F61Y |
possibly damaging |
Het |
| Polr1has |
A |
T |
17: 37,276,052 (GRCm39) |
R211S |
possibly damaging |
Het |
| Psg27 |
T |
A |
7: 18,295,818 (GRCm39) |
D209V |
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Pzp |
A |
G |
6: 128,502,227 (GRCm39) |
S41P |
possibly damaging |
Het |
| Rilpl2 |
T |
C |
5: 124,615,898 (GRCm39) |
D84G |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,881,077 (GRCm39) |
I2148T |
probably benign |
Het |
| Tead1 |
A |
G |
7: 112,358,694 (GRCm39) |
E2G |
probably damaging |
Het |
| Tigd4 |
A |
G |
3: 84,501,259 (GRCm39) |
N59D |
possibly damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,832,121 (GRCm39) |
D345V |
possibly damaging |
Het |
| Togaram2 |
T |
C |
17: 72,016,592 (GRCm39) |
S649P |
probably benign |
Het |
| Ucp2 |
T |
C |
7: 100,146,459 (GRCm39) |
V95A |
probably benign |
Het |
| Usp17lb |
T |
C |
7: 104,489,955 (GRCm39) |
D323G |
probably damaging |
Het |
| Zfp677 |
A |
T |
17: 21,617,518 (GRCm39) |
K192* |
probably null |
Het |
| Zmym2 |
T |
A |
14: 57,165,705 (GRCm39) |
I676K |
probably damaging |
Het |
|
| Other mutations in Rab23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02531:Rab23
|
APN |
1 |
33,777,361 (GRCm39) |
splice site |
probably benign |
|
|
R0309:Rab23
|
UTSW |
1 |
33,773,942 (GRCm39) |
splice site |
probably null |
|
|
R0798:Rab23
|
UTSW |
1 |
33,773,908 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1549:Rab23
|
UTSW |
1 |
33,777,378 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1668:Rab23
|
UTSW |
1 |
33,773,935 (GRCm39) |
nonsense |
probably null |
|
|
R1976:Rab23
|
UTSW |
1 |
33,763,019 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2240:Rab23
|
UTSW |
1 |
33,778,406 (GRCm39) |
missense |
probably benign |
|
|
R4476:Rab23
|
UTSW |
1 |
33,763,973 (GRCm39) |
intron |
probably benign |
|
|
R4614:Rab23
|
UTSW |
1 |
33,778,466 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5884:Rab23
|
UTSW |
1 |
33,763,967 (GRCm39) |
intron |
probably benign |
|
|
R5939:Rab23
|
UTSW |
1 |
33,762,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7567:Rab23
|
UTSW |
1 |
33,773,812 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9418:Rab23
|
UTSW |
1 |
33,777,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9614:Rab23
|
UTSW |
1 |
33,764,077 (GRCm39) |
frame shift |
probably null |
|
|
X0018:Rab23
|
UTSW |
1 |
33,777,417 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGACTGCTCAAATAATTTCTTCC -3'
(R):5'- TGAGCCGGTTACACAATAGG -3'
Sequencing Primer
(F):5'- GACTTGAACTCAGGACCTTCGTAAG -3'
(R):5'- CACAATAGGTGCAGCAACAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation