Incidental Mutation 'R5967:Ralbp1'
| ID |
470679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ralbp1
|
| Ensembl Gene |
ENSMUSG00000024096 |
| Gene Name |
ralA binding protein 1 |
| Synonyms |
RLIP76, Rip1 |
| MMRRC Submission |
043248-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.612)
|
| Stock # |
R5967 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
66155410-66192750 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66171274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 233
(V233A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129448
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024905]
[ENSMUST00000166543]
|
| AlphaFold |
Q62172 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024905
AA Change: V233A
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000024905
Gene: ENSMUSG00000024096
AA Change: V233A
| 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 benign
Transcript: ENSMUST00000166543
AA Change: V233A
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000129448
Gene: ENSMUSG00000024096
AA Change: V233A
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
A |
3: 116,587,357 (GRCm39) |
D66V |
probably benign |
Het |
| Agrn |
G |
A |
4: 156,259,560 (GRCm39) |
P792S |
probably damaging |
Het |
| Angptl2 |
A |
G |
2: 33,118,718 (GRCm39) |
N164S |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,967,434 (GRCm39) |
F4112L |
probably damaging |
Het |
| C8b |
A |
G |
4: 104,650,530 (GRCm39) |
E446G |
possibly damaging |
Het |
| Ceacam1 |
C |
T |
7: 25,174,167 (GRCm39) |
V163I |
probably damaging |
Het |
| Cngb1 |
T |
C |
8: 95,978,534 (GRCm39) |
K1068R |
probably damaging |
Het |
| Gna11 |
A |
G |
10: 81,366,643 (GRCm39) |
Y356H |
probably benign |
Het |
| Gnl2 |
A |
G |
4: 124,934,823 (GRCm39) |
M160V |
probably benign |
Het |
| Gpsm1 |
A |
G |
2: 26,230,546 (GRCm39) |
|
probably null |
Het |
| Grep1 |
C |
A |
17: 23,931,332 (GRCm39) |
G192W |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Kif20a |
G |
T |
18: 34,763,580 (GRCm39) |
R609L |
probably benign |
Het |
| Meis2 |
G |
A |
2: 115,694,790 (GRCm39) |
T444I |
probably benign |
Het |
| Muc17 |
T |
A |
5: 137,175,485 (GRCm39) |
I62L |
probably benign |
Het |
| Myorg |
G |
A |
4: 41,497,830 (GRCm39) |
A600V |
probably benign |
Het |
| Ncor2 |
C |
T |
5: 125,146,048 (GRCm39) |
D526N |
unknown |
Het |
| Nodal |
G |
T |
10: 61,259,446 (GRCm39) |
E294D |
probably damaging |
Het |
| Nup214 |
T |
C |
2: 31,869,790 (GRCm39) |
V161A |
possibly damaging |
Het |
| Or10a48 |
C |
T |
7: 108,424,921 (GRCm39) |
G95D |
probably benign |
Het |
| Or5k1b |
G |
T |
16: 58,580,725 (GRCm39) |
D271E |
probably damaging |
Het |
| Or5m11b |
G |
A |
2: 85,806,535 (GRCm39) |
R316H |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,590,669 (GRCm39) |
T990S |
unknown |
Het |
| Piwil2 |
A |
T |
14: 70,628,013 (GRCm39) |
M752K |
probably benign |
Het |
| Ppargc1b |
A |
G |
18: 61,431,837 (GRCm39) |
S1004P |
probably damaging |
Het |
| Prkd1 |
A |
T |
12: 50,411,333 (GRCm39) |
M805K |
probably damaging |
Het |
| Rad23a |
T |
C |
8: 85,565,568 (GRCm39) |
E30G |
probably damaging |
Het |
| Scin |
C |
T |
12: 40,127,537 (GRCm39) |
E418K |
probably benign |
Het |
| Scn7a |
T |
A |
2: 66,506,057 (GRCm39) |
I1611F |
probably damaging |
Het |
| Slit2 |
A |
T |
5: 48,142,506 (GRCm39) |
H42L |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,537,375 (GRCm39) |
V4259D |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,403,039 (GRCm39) |
Y528F |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,675,168 (GRCm39) |
E107G |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,948,572 (GRCm39) |
T463A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGCTTCATTCTGCCCAG -3'
(R):5'- AAAGCCAATTCAGGAGCCAG -3'
Sequencing Primer
(F):5'- CTGGCTTGGGAGTAAAACCTC -3'
(R):5'- CAGAGGTGCCTCAGATGGAC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation