Incidental Mutation 'IGL02523:Ralbp1'
| ID |
296943 |
| 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 # |
IGL02523
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
66155410-66192750 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66166086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 366
(E366G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129448
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024905]
[ENSMUST00000166543]
|
| AlphaFold |
Q62172 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024905
AA Change: E366G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000024905
Gene: ENSMUSG00000024096
AA Change: E366G
| 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 |
probably damaging
Transcript: ENSMUST00000166543
AA Change: E366G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129448
Gene: ENSMUSG00000024096
AA Change: E366G
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asah1 |
T |
C |
8: 41,804,984 (GRCm39) |
D109G |
probably benign |
Het |
| Ces2c |
C |
A |
8: 105,574,746 (GRCm39) |
P68T |
probably damaging |
Het |
| Csl |
G |
A |
10: 99,594,675 (GRCm39) |
T130I |
probably benign |
Het |
| Cyp2g1 |
C |
T |
7: 26,518,612 (GRCm39) |
R376W |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,604,996 (GRCm39) |
L1029P |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,692,490 (GRCm39) |
|
probably benign |
Het |
| Eya2 |
C |
T |
2: 165,596,356 (GRCm39) |
|
probably benign |
Het |
| Fars2 |
G |
T |
13: 36,388,676 (GRCm39) |
G55V |
probably damaging |
Het |
| Fcgbp |
C |
A |
7: 27,804,157 (GRCm39) |
A1755E |
possibly damaging |
Het |
| Ggt7 |
T |
A |
2: 155,356,623 (GRCm39) |
E32V |
probably damaging |
Het |
| Heg1 |
C |
A |
16: 33,558,992 (GRCm39) |
T1071K |
probably damaging |
Het |
| Hpca |
A |
G |
4: 129,012,368 (GRCm39) |
F56S |
probably damaging |
Het |
| Hyal4 |
T |
A |
6: 24,765,968 (GRCm39) |
Y441N |
probably damaging |
Het |
| Igsf8 |
T |
A |
1: 172,146,980 (GRCm39) |
|
probably benign |
Het |
| Ints13 |
A |
G |
6: 146,459,109 (GRCm39) |
S301P |
probably benign |
Het |
| Krt33a |
G |
A |
11: 99,902,518 (GRCm39) |
T374I |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,605,157 (GRCm39) |
D972G |
probably damaging |
Het |
| Npc1 |
T |
C |
18: 12,334,629 (GRCm39) |
T708A |
probably benign |
Het |
| Or10ag52 |
A |
T |
2: 87,043,664 (GRCm39) |
N143Y |
probably benign |
Het |
| Or13p10 |
A |
T |
4: 118,523,238 (GRCm39) |
N175Y |
probably benign |
Het |
| Or1l8 |
T |
C |
2: 36,817,967 (GRCm39) |
D53G |
probably damaging |
Het |
| Or6d14 |
A |
T |
6: 116,534,054 (GRCm39) |
I223L |
probably benign |
Het |
| P2rx2 |
A |
G |
5: 110,489,908 (GRCm39) |
S87P |
probably damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,699,799 (GRCm39) |
L62H |
probably damaging |
Het |
| Plekhj1 |
A |
T |
10: 80,633,683 (GRCm39) |
|
probably null |
Het |
| Ptbp2 |
A |
T |
3: 119,534,136 (GRCm39) |
Y244* |
probably null |
Het |
| Rergl |
T |
A |
6: 139,473,458 (GRCm39) |
|
probably benign |
Het |
| Slc25a45 |
T |
A |
19: 5,934,637 (GRCm39) |
|
probably null |
Het |
| Spop |
G |
A |
11: 95,376,747 (GRCm39) |
D267N |
possibly damaging |
Het |
| Tars2 |
T |
C |
3: 95,648,705 (GRCm39) |
D625G |
probably damaging |
Het |
| Tlk2 |
A |
G |
11: 105,166,773 (GRCm39) |
K593R |
probably damaging |
Het |
| Tlr3 |
T |
A |
8: 45,851,428 (GRCm39) |
|
probably null |
Het |
| Tmem205 |
C |
T |
9: 21,832,584 (GRCm39) |
R109H |
probably benign |
Het |
| Tmem41b |
A |
G |
7: 109,581,935 (GRCm39) |
I56T |
probably damaging |
Het |
| Ube2q2 |
T |
C |
9: 55,099,163 (GRCm39) |
V168A |
probably damaging |
Het |
| Ufsp2 |
T |
A |
8: 46,436,585 (GRCm39) |
M112K |
probably damaging |
Het |
| Wipi2 |
T |
A |
5: 142,646,787 (GRCm39) |
V208E |
probably damaging |
Het |
| Xkr9 |
A |
G |
1: 13,754,474 (GRCm39) |
E156G |
probably benign |
Het |
|
| Other mutations in Ralbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00671:Ralbp1
|
APN |
17 |
66,171,607 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation