Incidental Mutation 'IGL00671:Ralbp1'
| ID |
13736 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ralbp1
|
| Ensembl Gene |
ENSMUSG00000024096 |
| Gene Name |
ralA binding protein 1 |
| Synonyms |
RLIP76, Rip1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.612)
|
| Stock # |
IGL00671
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
66155410-66192750 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 66171607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 122
(E122V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129448
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024905]
[ENSMUST00000166543]
|
| AlphaFold |
Q62172 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024905
AA Change: E122V
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000024905
Gene: ENSMUSG00000024096
AA Change: E122V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
180 |
N/A |
INTRINSIC |
|
RhoGAP
|
207 |
373 |
1.04e-60 |
SMART |
|
Blast:RhoGAP
|
391 |
493 |
1e-48 |
BLAST |
|
low complexity region
|
533 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
587 |
598 |
N/A |
INTRINSIC |
|
low complexity region
|
602 |
621 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166543
AA Change: E122V
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000129448
Gene: ENSMUSG00000024096
AA Change: E122V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
180 |
N/A |
INTRINSIC |
|
RhoGAP
|
207 |
373 |
1.04e-60 |
SMART |
|
Blast:RhoGAP
|
391 |
493 |
1e-48 |
BLAST |
|
low complexity region
|
533 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
587 |
598 |
N/A |
INTRINSIC |
|
low complexity region
|
602 |
621 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RALBP1 plays a role in receptor-mediated endocytosis and is a downstream effector of the small GTP-binding protein RAL (see RALA; MIM 179550). Small G proteins, such as RAL, have GDP-bound inactive and GTP-bound active forms, which shift from the inactive to the active state through the action of RALGDS (MIM 601619), which in turn is activated by RAS (see HRAS; MIM 190020) (summary by Feig, 2003 [PubMed 12888294]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Homozygous and heterozygous null mice display increased sensitivity to X-ray irradiation, increased oxidative stress, and impaired glutathione homeostasis. Mice homozygous for a gene trap insertion exhibit decreases in exploratory and locomotor activity and a decreased sensitivity to pain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,980,745 (GRCm39) |
R576* |
probably null |
Het |
| Astl |
T |
C |
2: 127,185,941 (GRCm39) |
|
probably null |
Het |
| Atp6v1h |
T |
C |
1: 5,194,694 (GRCm39) |
|
probably null |
Het |
| Avpr1a |
A |
T |
10: 122,285,256 (GRCm39) |
I183L |
probably benign |
Het |
| Cep83 |
A |
G |
10: 94,625,626 (GRCm39) |
T679A |
possibly damaging |
Het |
| Dennd1b |
A |
T |
1: 139,061,475 (GRCm39) |
I386F |
possibly damaging |
Het |
| Dnaaf6rt |
G |
A |
1: 31,262,053 (GRCm39) |
V12I |
probably benign |
Het |
| Ect2 |
T |
C |
3: 27,192,818 (GRCm39) |
N344S |
probably benign |
Het |
| Ghrh |
G |
A |
2: 157,175,389 (GRCm39) |
H31Y |
probably benign |
Het |
| Gpc6 |
A |
T |
14: 117,424,199 (GRCm39) |
T96S |
probably benign |
Het |
| Man2b1 |
A |
C |
8: 85,820,567 (GRCm39) |
D618A |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,084,183 (GRCm39) |
E1602G |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,411,067 (GRCm39) |
I175N |
probably damaging |
Het |
| Oga |
C |
A |
19: 45,753,979 (GRCm39) |
A632S |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,543,097 (GRCm39) |
|
probably null |
Het |
| Otop2 |
A |
G |
11: 115,222,735 (GRCm39) |
N539S |
probably damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,723,940 (GRCm39) |
S413R |
possibly damaging |
Het |
| Tcf12 |
T |
A |
9: 71,775,400 (GRCm39) |
N450I |
probably damaging |
Het |
| Tle3 |
T |
A |
9: 61,319,652 (GRCm39) |
N492K |
probably damaging |
Het |
| Ttll8 |
T |
C |
15: 88,798,356 (GRCm39) |
D793G |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,280,211 (GRCm39) |
T756A |
possibly damaging |
Het |
| Zfand1 |
T |
C |
3: 10,411,084 (GRCm39) |
H96R |
probably damaging |
Het |
| Zfp617 |
C |
T |
8: 72,686,386 (GRCm39) |
R239* |
probably null |
Het |
| Zmpste24 |
A |
G |
4: 120,940,012 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ralbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00736:Ralbp1
|
APN |
17 |
66,171,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01318:Ralbp1
|
APN |
17 |
66,171,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01661:Ralbp1
|
APN |
17 |
66,168,384 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02523:Ralbp1
|
APN |
17 |
66,166,086 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0507:Ralbp1
|
UTSW |
17 |
66,156,955 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0666:Ralbp1
|
UTSW |
17 |
66,161,124 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0674:Ralbp1
|
UTSW |
17 |
66,159,748 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1418:Ralbp1
|
UTSW |
17 |
66,166,143 (GRCm39) |
splice site |
probably benign |
|
|
R2136:Ralbp1
|
UTSW |
17 |
66,171,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2320:Ralbp1
|
UTSW |
17 |
66,159,742 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4657:Ralbp1
|
UTSW |
17 |
66,159,686 (GRCm39) |
missense |
probably null |
0.99 |
|
R5482:Ralbp1
|
UTSW |
17 |
66,168,563 (GRCm39) |
nonsense |
probably null |
|
|
R5545:Ralbp1
|
UTSW |
17 |
66,157,099 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5967:Ralbp1
|
UTSW |
17 |
66,171,274 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6512:Ralbp1
|
UTSW |
17 |
66,168,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6853:Ralbp1
|
UTSW |
17 |
66,159,751 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7399:Ralbp1
|
UTSW |
17 |
66,161,143 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7423:Ralbp1
|
UTSW |
17 |
66,165,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7545:Ralbp1
|
UTSW |
17 |
66,174,593 (GRCm39) |
missense |
probably benign |
|
|
R8394:Ralbp1
|
UTSW |
17 |
66,159,748 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8755:Ralbp1
|
UTSW |
17 |
66,166,036 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9425:Ralbp1
|
UTSW |
17 |
66,171,506 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Posted On |
2012-12-06 |
Incidental Mutation