Incidental Mutation 'R6512:Ralbp1'
| ID |
519971 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ralbp1
|
| Ensembl Gene |
ENSMUSG00000024096 |
| Gene Name |
ralA binding protein 1 |
| Synonyms |
RLIP76, Rip1 |
| MMRRC Submission |
045017-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.612)
|
| Stock # |
R6512 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
66155410-66192750 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66168270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 345
(V345A)
|
| 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: V345A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024905
Gene: ENSMUSG00000024096
AA Change: V345A
| 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: V345A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129448
Gene: ENSMUSG00000024096
AA Change: V345A
| 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: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (39/39) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
A |
G |
17: 48,347,672 (GRCm39) |
S211P |
possibly damaging |
Het |
| Abcb11 |
T |
C |
2: 69,112,996 (GRCm39) |
T674A |
probably benign |
Het |
| Acad11 |
G |
T |
9: 103,972,758 (GRCm39) |
E484* |
probably null |
Het |
| Ankhd1 |
A |
T |
18: 36,724,509 (GRCm39) |
D389V |
probably damaging |
Het |
| Asic4 |
T |
A |
1: 75,449,687 (GRCm39) |
L439* |
probably null |
Het |
| Atp13a2 |
A |
G |
4: 140,730,529 (GRCm39) |
T808A |
probably damaging |
Het |
| Capn13 |
C |
A |
17: 73,689,985 (GRCm39) |
V9L |
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,302 (GRCm39) |
Y243C |
probably damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,494,478 (GRCm39) |
W308R |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,069,172 (GRCm39) |
E129G |
possibly damaging |
Het |
| Dock5 |
A |
G |
14: 68,062,097 (GRCm39) |
S424P |
possibly damaging |
Het |
| Ebf1 |
C |
T |
11: 44,883,168 (GRCm39) |
H469Y |
probably damaging |
Het |
| Efhc1 |
A |
T |
1: 21,030,573 (GRCm39) |
N169Y |
probably damaging |
Het |
| Elmo1 |
T |
C |
13: 20,557,331 (GRCm39) |
L424P |
probably damaging |
Het |
| Ighv1-59 |
A |
G |
12: 115,299,003 (GRCm39) |
V16A |
probably damaging |
Het |
| Kcnc1 |
T |
G |
7: 46,076,821 (GRCm39) |
C208G |
probably damaging |
Het |
| Kif13b |
A |
T |
14: 64,982,323 (GRCm39) |
|
probably null |
Het |
| Lilra6 |
T |
A |
7: 3,917,387 (GRCm39) |
N203Y |
probably benign |
Het |
| Mrtfa |
T |
C |
15: 80,897,917 (GRCm39) |
T787A |
probably benign |
Het |
| Myh8 |
A |
T |
11: 67,180,488 (GRCm39) |
K575* |
probably null |
Het |
| Nedd1 |
C |
T |
10: 92,527,737 (GRCm39) |
A486T |
probably benign |
Het |
| Or2aj5 |
A |
T |
16: 19,425,109 (GRCm39) |
L103H |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,840,309 (GRCm39) |
I1168T |
possibly damaging |
Het |
| Pla2g12a |
T |
A |
3: 129,682,606 (GRCm39) |
H59Q |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,697,723 (GRCm39) |
V894M |
possibly damaging |
Het |
| Sec24b |
T |
A |
3: 129,834,946 (GRCm39) |
Y84F |
probably damaging |
Het |
| Slc22a26 |
T |
C |
19: 7,779,865 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Spats1 |
C |
T |
17: 45,763,599 (GRCm39) |
|
probably null |
Het |
| Tbk1 |
T |
A |
10: 121,414,526 (GRCm39) |
N63Y |
probably damaging |
Het |
| Tbl1xr1 |
C |
T |
3: 22,194,698 (GRCm39) |
|
probably benign |
Het |
| Top2b |
T |
A |
14: 16,409,854 (GRCm38) |
D840E |
possibly damaging |
Het |
| Trpc3 |
T |
A |
3: 36,716,907 (GRCm39) |
Y377F |
possibly damaging |
Het |
| Uba6 |
C |
T |
5: 86,272,262 (GRCm39) |
R778K |
probably benign |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,146 (GRCm39) |
I92F |
probably damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r70 |
G |
T |
7: 85,215,305 (GRCm39) |
F76L |
probably benign |
Het |
| Vwa3b |
A |
G |
1: 37,102,723 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
T |
A |
18: 84,578,474 (GRCm39) |
T880S |
probably damaging |
Het |
| Zfp64 |
C |
A |
2: 168,735,997 (GRCm39) |
G560V |
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 |
|
R5967:Ralbp1
|
UTSW |
17 |
66,171,274 (GRCm39) |
missense |
probably benign |
0.19 |
|
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'- AAGGACAAATACGCTCGCTC -3'
(R):5'- GCTTACCAAAGAGCTTATGCC -3'
Sequencing Primer
(F):5'- CCCTACACGCTGGCACTG -3'
(R):5'- CAAAGAGCTTATGCCCCGGTTTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation