Incidental Mutation 'R2320:Ralbp1'
| ID |
245621 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2320 (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 66159742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 507
(I507T)
|
| 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: I507T
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000024905
Gene: ENSMUSG00000024096
AA Change: I507T
| 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: I507T
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000129448
Gene: ENSMUSG00000024096
AA Change: I507T
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc10 |
T |
C |
8: 80,501,708 (GRCm39) |
Y159H |
probably benign |
Het |
| Arid1a |
A |
T |
4: 133,407,840 (GRCm39) |
N2222K |
unknown |
Het |
| Cpxm1 |
A |
G |
2: 130,236,131 (GRCm39) |
Y344H |
probably damaging |
Het |
| Itpr3 |
T |
C |
17: 27,314,889 (GRCm39) |
S679P |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,333,288 (GRCm39) |
T2376A |
probably benign |
Het |
| Med4 |
T |
A |
14: 73,755,373 (GRCm39) |
M227K |
possibly damaging |
Het |
| Ncan |
T |
C |
8: 70,560,868 (GRCm39) |
I700V |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,637 (GRCm39) |
V9E |
possibly damaging |
Het |
| Pik3c2b |
A |
T |
1: 133,031,151 (GRCm39) |
S1486C |
probably damaging |
Het |
| Rpl4 |
C |
T |
9: 64,082,881 (GRCm39) |
R100C |
probably damaging |
Het |
| Scn5a |
C |
A |
9: 119,359,022 (GRCm39) |
|
probably null |
Het |
| Serhl |
A |
G |
15: 82,986,073 (GRCm39) |
D2G |
probably damaging |
Het |
| Thbd |
T |
C |
2: 148,248,566 (GRCm39) |
E434G |
probably damaging |
Het |
| Trim17 |
T |
C |
11: 58,857,624 (GRCm39) |
Y152H |
probably benign |
Het |
| Vmn1r38 |
G |
A |
6: 66,753,534 (GRCm39) |
T194I |
possibly damaging |
Het |
| Wdhd1 |
C |
T |
14: 47,511,485 (GRCm39) |
V76I |
probably benign |
Het |
| Zfp709 |
T |
A |
8: 72,641,136 (GRCm39) |
V11E |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCCAGTTCTTTCCAGGAATG -3'
(R):5'- GTTGTAGTAACTTGTGTTCAGCAC -3'
Sequencing Primer
(F):5'- AACCTGTGGGTCACAAGCTCTATG -3'
(R):5'- CCGAGCAGGGTGACAGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation