Incidental Mutation 'IGL01805:Ralb'
| ID |
155637 |
| 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 # |
IGL01805
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
119398035-119432512 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119403725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 81
(E81G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004565]
|
| AlphaFold |
Q9JIW9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004565
AA Change: E134G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000004565
Gene: ENSMUSG00000004451
AA Change: E134G
| 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
AA Change: E81G
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000119849
Gene: ENSMUSG00000004451
AA Change: E81G
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019D03Rik |
T |
C |
1: 52,964,677 (GRCm39) |
D17G |
possibly damaging |
Het |
| Adam28 |
G |
T |
14: 68,879,540 (GRCm39) |
S169R |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,120,672 (GRCm39) |
M855T |
possibly damaging |
Het |
| Apc |
C |
A |
18: 34,451,271 (GRCm39) |
N2688K |
probably benign |
Het |
| Arhgap23 |
T |
A |
11: 97,383,428 (GRCm39) |
|
probably benign |
Het |
| Bpifa6 |
A |
G |
2: 153,826,832 (GRCm39) |
T66A |
probably benign |
Het |
| C1qtnf1 |
T |
A |
11: 118,338,993 (GRCm39) |
L221Q |
probably damaging |
Het |
| Ccdc175 |
T |
A |
12: 72,176,003 (GRCm39) |
|
probably benign |
Het |
| Ccl1 |
C |
A |
11: 82,068,958 (GRCm39) |
M26I |
possibly damaging |
Het |
| Dnah10 |
T |
A |
5: 124,860,985 (GRCm39) |
F2123I |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,160,635 (GRCm39) |
|
probably null |
Het |
| Fstl4 |
C |
A |
11: 53,077,184 (GRCm39) |
A647E |
probably damaging |
Het |
| Hmgb4 |
G |
T |
4: 128,154,015 (GRCm39) |
|
probably benign |
Het |
| Hr |
A |
T |
14: 70,802,737 (GRCm39) |
|
probably benign |
Het |
| Ilrun |
C |
T |
17: 27,986,880 (GRCm39) |
|
probably benign |
Het |
| Kcna4 |
G |
T |
2: 107,126,843 (GRCm39) |
V526L |
probably damaging |
Het |
| Mas1 |
T |
C |
17: 13,061,117 (GRCm39) |
Y102C |
probably damaging |
Het |
| Mucl3 |
T |
A |
17: 35,948,535 (GRCm39) |
T355S |
possibly damaging |
Het |
| Mul1 |
C |
T |
4: 138,166,974 (GRCm39) |
P343S |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,023,422 (GRCm39) |
S652G |
probably damaging |
Het |
| Or8g55 |
T |
C |
9: 39,785,075 (GRCm39) |
F168S |
probably damaging |
Het |
| Pjvk |
A |
T |
2: 76,487,858 (GRCm39) |
N250I |
probably benign |
Het |
| Pkd2 |
T |
C |
5: 104,630,959 (GRCm39) |
I461T |
probably benign |
Het |
| Psen2 |
T |
C |
1: 180,057,403 (GRCm39) |
|
probably null |
Het |
| Slc15a4 |
T |
C |
5: 127,685,900 (GRCm39) |
T261A |
possibly damaging |
Het |
| Vmn2r77 |
G |
A |
7: 86,460,395 (GRCm39) |
V574M |
probably benign |
Het |
| Xrn2 |
A |
G |
2: 146,870,063 (GRCm39) |
I251V |
probably damaging |
Het |
| Zfp974 |
G |
A |
7: 27,611,689 (GRCm39) |
|
probably benign |
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 |
|
IGL02330:Ralb
|
APN |
1 |
119,399,450 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2014-02-04 |
Incidental Mutation