Incidental Mutation 'IGL02330:Ralb'
| ID |
288646 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ralb
|
| Ensembl Gene |
ENSMUSG00000004451 |
| Gene Name |
v-ral simian leukemia viral oncogene B |
| Synonyms |
5730472O18Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02330
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
119398035-119432512 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119399450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 203
(C203S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004565
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004565]
|
| AlphaFold |
Q9JIW9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004565
AA Change: C203S
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000004565
Gene: ENSMUSG00000004451
AA Change: C203S
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
12 |
179 |
1.83e-95 |
SMART |
|
low complexity region
|
191 |
198 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142945
|
| SMART Domains |
Protein: ENSMUSP00000119849
Gene: ENSMUSG00000004451
| Domain | Start | End | E-Value | Type |
|---|
|
small_GTPase
|
2 |
127 |
1.15e-37 |
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 encodes a GTP-binding protein that belongs to the small GTPase superfamily and Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no obvious abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
A |
T |
8: 56,325,398 (GRCm39) |
I352K |
probably benign |
Het |
| Atp8a1 |
T |
C |
5: 67,970,520 (GRCm39) |
N73S |
probably damaging |
Het |
| Cilp |
T |
C |
9: 65,181,804 (GRCm39) |
|
probably benign |
Het |
| Csf2rb2 |
C |
T |
15: 78,169,328 (GRCm39) |
G500D |
possibly damaging |
Het |
| Cyp4a14 |
A |
C |
4: 115,352,224 (GRCm39) |
|
probably benign |
Het |
| Dagla |
T |
G |
19: 10,225,386 (GRCm39) |
D926A |
probably damaging |
Het |
| Ddr2 |
T |
A |
1: 169,816,093 (GRCm39) |
Y538F |
probably damaging |
Het |
| Eng |
T |
A |
2: 32,559,581 (GRCm39) |
|
probably null |
Het |
| Fbxo24 |
G |
T |
5: 137,619,579 (GRCm39) |
L99M |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,437,511 (GRCm39) |
S1161G |
probably benign |
Het |
| Foxp1 |
T |
C |
6: 98,922,373 (GRCm39) |
N453D |
probably damaging |
Het |
| Fut8 |
A |
G |
12: 77,497,017 (GRCm39) |
D409G |
probably damaging |
Het |
| Hmces |
A |
G |
6: 87,891,517 (GRCm39) |
H8R |
probably damaging |
Het |
| Ing3 |
T |
C |
6: 21,952,120 (GRCm39) |
C44R |
probably benign |
Het |
| Itga1 |
T |
A |
13: 115,148,740 (GRCm39) |
I294F |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,910,693 (GRCm39) |
S976T |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,367,987 (GRCm39) |
Y249C |
possibly damaging |
Het |
| Nop56 |
T |
C |
2: 130,118,686 (GRCm39) |
S273P |
probably damaging |
Het |
| Or10a48 |
A |
T |
7: 108,425,206 (GRCm39) |
|
probably benign |
Het |
| Or1j21 |
C |
T |
2: 36,683,907 (GRCm39) |
H220Y |
probably benign |
Het |
| Otog |
C |
T |
7: 45,937,493 (GRCm39) |
S1734F |
possibly damaging |
Het |
| Phc3 |
T |
G |
3: 30,990,530 (GRCm39) |
E562D |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Sf3b4 |
A |
T |
3: 96,080,376 (GRCm39) |
T42S |
possibly damaging |
Het |
| Sgsm2 |
T |
C |
11: 74,749,493 (GRCm39) |
T584A |
probably benign |
Het |
| Slco5a1 |
T |
C |
1: 13,009,284 (GRCm39) |
K397R |
probably damaging |
Het |
| Trim30c |
A |
G |
7: 104,032,165 (GRCm39) |
Y299H |
possibly damaging |
Het |
| Trip6 |
T |
C |
5: 137,311,620 (GRCm39) |
D119G |
probably benign |
Het |
| Uap1 |
A |
T |
1: 169,977,896 (GRCm39) |
I385N |
possibly damaging |
Het |
| Vmn1r123 |
T |
A |
7: 20,896,969 (GRCm39) |
I287N |
probably damaging |
Het |
| Vwce |
T |
C |
19: 10,624,165 (GRCm39) |
L352P |
possibly damaging |
Het |
| Xrn1 |
T |
A |
9: 95,855,401 (GRCm39) |
Y260* |
probably null |
Het |
| Zfp738 |
T |
C |
13: 67,819,550 (GRCm39) |
Y147C |
probably damaging |
Het |
|
| Other mutations in Ralb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00227:Ralb
|
APN |
1 |
119,403,770 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL00927:Ralb
|
APN |
1 |
119,399,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01607:Ralb
|
APN |
1 |
119,411,279 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01805:Ralb
|
APN |
1 |
119,403,725 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0393:Ralb
|
UTSW |
1 |
119,405,856 (GRCm39) |
splice site |
probably null |
|
|
R1616:Ralb
|
UTSW |
1 |
119,405,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Ralb
|
UTSW |
1 |
119,403,797 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3829:Ralb
|
UTSW |
1 |
119,399,447 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4097:Ralb
|
UTSW |
1 |
119,411,228 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4352:Ralb
|
UTSW |
1 |
119,411,282 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4854:Ralb
|
UTSW |
1 |
119,403,645 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5567:Ralb
|
UTSW |
1 |
119,411,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5683:Ralb
|
UTSW |
1 |
119,403,686 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6153:Ralb
|
UTSW |
1 |
119,405,870 (GRCm39) |
splice site |
probably null |
|
|
R6358:Ralb
|
UTSW |
1 |
119,403,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6408:Ralb
|
UTSW |
1 |
119,405,839 (GRCm39) |
nonsense |
probably null |
|
|
R6816:Ralb
|
UTSW |
1 |
119,405,712 (GRCm39) |
nonsense |
probably null |
|
|
R7371:Ralb
|
UTSW |
1 |
119,400,129 (GRCm39) |
missense |
|
|
|
R8890:Ralb
|
UTSW |
1 |
119,411,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9286:Ralb
|
UTSW |
1 |
119,399,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation