Incidental Mutation 'IGL02317:Rabl2'
| ID |
288079 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rabl2
|
| Ensembl Gene |
ENSMUSG00000022621 |
| Gene Name |
RAB, member RAS oncogene family-like 2 |
| Synonyms |
Rabl2a, 1110031N17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02317
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
89466736-89476126 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89468492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 133
(N133K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023294
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023294]
[ENSMUST00000094056]
[ENSMUST00000169466]
[ENSMUST00000170126]
[ENSMUST00000172053]
[ENSMUST00000171580]
|
| AlphaFold |
E9Q9D5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023294
AA Change: N133K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023294
Gene: ENSMUSG00000022621
AA Change: N133K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
10 |
196 |
2.3e-12 |
PFAM |
|
Pfam:MMR_HSR1
|
23 |
134 |
1.4e-6 |
PFAM |
|
Pfam:Roc
|
23 |
137 |
2e-35 |
PFAM |
|
Pfam:Gtr1_RagA
|
23 |
171 |
9e-8 |
PFAM |
|
Pfam:Ras
|
23 |
180 |
3.8e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094056
|
| SMART Domains |
Protein: ENSMUSP00000091598
Gene: ENSMUSG00000022621
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RAB
|
50 |
94 |
4e-10 |
BLAST |
|
SCOP:d3raba_
|
57 |
91 |
1e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163376
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165747
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169466
|
| SMART Domains |
Protein: ENSMUSP00000129660
Gene: ENSMUSG00000022621
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ek0a_
|
21 |
53 |
8e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170126
|
| SMART Domains |
Protein: ENSMUSP00000126182
Gene: ENSMUSG00000022621
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
23 |
74 |
1.2e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171142
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000171826
AA Change: N9K
|
| SMART Domains |
Protein: ENSMUSP00000129221
Gene: ENSMUSG00000022621
AA Change: N9K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RAB
|
2 |
49 |
7e-16 |
BLAST |
|
SCOP:d1fzqa_
|
3 |
49 |
5e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172074
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172053
|
| SMART Domains |
Protein: ENSMUSP00000129253
Gene: ENSMUSG00000022621
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
10 |
100 |
6.5e-9 |
PFAM |
|
Pfam:Miro
|
23 |
102 |
1.7e-11 |
PFAM |
|
Pfam:Ras
|
23 |
102 |
4.5e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171580
|
| SMART Domains |
Protein: ENSMUSP00000128799
Gene: ENSMUSG00000022621
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ek0a_
|
21 |
38 |
7e-5 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit male infertility, reduced testis weight, oligospermia, asthenozoospermia and short flagellum. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019M22Rik |
T |
C |
12: 96,013,780 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl2fm3 |
A |
G |
3: 59,784,408 (GRCm39) |
N294D |
probably benign |
Het |
| Aak1 |
C |
T |
6: 86,933,282 (GRCm39) |
P418S |
possibly damaging |
Het |
| Abca5 |
T |
A |
11: 110,218,587 (GRCm39) |
Q93L |
probably benign |
Het |
| Arhgap22 |
G |
T |
14: 33,081,230 (GRCm39) |
V209L |
probably damaging |
Het |
| Atp6v1h |
G |
T |
1: 5,154,693 (GRCm39) |
R7L |
possibly damaging |
Het |
| Ccdc86 |
T |
C |
19: 10,920,556 (GRCm39) |
Q420R |
possibly damaging |
Het |
| Cep85 |
C |
T |
4: 133,883,122 (GRCm39) |
G256R |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,357,520 (GRCm39) |
|
probably benign |
Het |
| Dck |
T |
C |
5: 88,921,942 (GRCm39) |
Y135H |
probably damaging |
Het |
| Dicer1 |
T |
C |
12: 104,663,279 (GRCm39) |
E1434G |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,334,244 (GRCm39) |
T4824I |
probably damaging |
Het |
| Fam20c |
G |
A |
5: 138,792,115 (GRCm39) |
R404H |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,478,855 (GRCm39) |
A2611T |
probably benign |
Het |
| Fbxl13 |
C |
T |
5: 21,727,232 (GRCm39) |
C555Y |
probably benign |
Het |
| Gprc6a |
C |
A |
10: 51,497,049 (GRCm39) |
R323L |
probably benign |
Het |
| Grik2 |
A |
G |
10: 49,298,711 (GRCm39) |
F50L |
probably benign |
Het |
| Ibsp |
A |
G |
5: 104,450,332 (GRCm39) |
Y50C |
probably damaging |
Het |
| Il16 |
T |
A |
7: 83,316,097 (GRCm39) |
H437L |
probably damaging |
Het |
| Irf9 |
G |
A |
14: 55,845,196 (GRCm39) |
R352H |
probably damaging |
Het |
| Jph1 |
T |
C |
1: 17,074,147 (GRCm39) |
T624A |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,833,112 (GRCm39) |
Y1574C |
probably damaging |
Het |
| Lrrc26 |
A |
G |
2: 25,180,314 (GRCm39) |
N105S |
probably damaging |
Het |
| Megf8 |
C |
A |
7: 25,063,213 (GRCm39) |
T2523K |
probably damaging |
Het |
| Nckap1l |
A |
G |
15: 103,370,005 (GRCm39) |
I135V |
probably benign |
Het |
| Oma1 |
A |
G |
4: 103,176,234 (GRCm39) |
|
probably benign |
Het |
| Opa1 |
T |
G |
16: 29,433,984 (GRCm39) |
|
probably null |
Het |
| Or13j1 |
T |
C |
4: 43,706,172 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or5m3b |
T |
C |
2: 85,871,913 (GRCm39) |
S85P |
probably damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Rab11b |
C |
T |
17: 33,968,790 (GRCm39) |
A43T |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,467,621 (GRCm39) |
V840I |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,865,854 (GRCm39) |
S1001P |
probably damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,415,985 (GRCm39) |
E896G |
probably benign |
Het |
| Ube2o |
T |
C |
11: 116,432,389 (GRCm39) |
E859G |
probably damaging |
Het |
| Vmn1r197 |
A |
G |
13: 22,512,073 (GRCm39) |
|
probably benign |
Het |
| Vmn2r58 |
A |
G |
7: 41,486,765 (GRCm39) |
I710T |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,662,492 (GRCm39) |
T533A |
possibly damaging |
Het |
|
| Other mutations in Rabl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00901:Rabl2
|
APN |
15 |
89,474,473 (GRCm39) |
splice site |
probably benign |
|
|
IGL01612:Rabl2
|
APN |
15 |
89,467,615 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0335:Rabl2
|
UTSW |
15 |
89,468,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4169:Rabl2
|
UTSW |
15 |
89,474,582 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R4276:Rabl2
|
UTSW |
15 |
89,468,391 (GRCm39) |
intron |
probably benign |
|
|
R4330:Rabl2
|
UTSW |
15 |
89,471,137 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5657:Rabl2
|
UTSW |
15 |
89,472,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6242:Rabl2
|
UTSW |
15 |
89,468,555 (GRCm39) |
missense |
probably benign |
|
|
R9445:Rabl2
|
UTSW |
15 |
89,468,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9513:Rabl2
|
UTSW |
15 |
89,474,631 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9516:Rabl2
|
UTSW |
15 |
89,474,631 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
X0023:Rabl2
|
UTSW |
15 |
89,468,183 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2015-04-16 |
Incidental Mutation