Incidental Mutation 'IGL01661:Ralbp1'
ID103163
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ralbp1
Ensembl Gene ENSMUSG00000024096
Gene NameralA binding protein 1
SynonymsRLIP76, Rip1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.541) question?
Stock #IGL01661
Quality Score
Status
Chromosome17
Chromosomal Location65848433-65885755 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 65861389 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 307 (L307P)
Ref Sequence ENSEMBL: ENSMUSP00000129448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024905] [ENSMUST00000166543]
Predicted Effect probably damaging
Transcript: ENSMUST00000024905
AA Change: L307P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000024905
Gene: ENSMUSG00000024096
AA Change: L307P

DomainStartEndE-ValueType
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: L307P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129448
Gene: ENSMUSG00000024096
AA Change: L307P

DomainStartEndE-ValueType
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,442,995 F1569L probably benign Het
Acly A G 11: 100,514,342 probably benign Het
Adgre5 T A 8: 83,727,935 N313I probably damaging Het
Ccdc17 A G 4: 116,597,866 H206R probably benign Het
Cenpo C T 12: 4,234,023 probably null Het
Galnt5 G T 2: 57,999,482 A365S probably benign Het
Josd1 G A 15: 79,677,127 P160L probably damaging Het
Lamc1 C A 1: 153,221,573 R1575L possibly damaging Het
Mrpl32 C T 13: 14,610,593 V153I probably benign Het
Mtor A G 4: 148,514,851 K1452R possibly damaging Het
Nob1 T C 8: 107,413,182 Y315C probably damaging Het
Olfr1066 T C 2: 86,455,502 I256M possibly damaging Het
Olfr48 T A 2: 89,844,095 M293L probably benign Het
Prex2 A G 1: 11,208,614 N1389S probably benign Het
Ptprd G A 4: 75,954,083 T1383M probably damaging Het
Sema4f A G 6: 82,918,055 probably benign Het
Slc2a3 A G 6: 122,729,956 V486A probably benign Het
Spock2 T A 10: 60,123,870 H140Q probably damaging Het
Tmc4 A G 7: 3,666,927 I610T probably damaging Het
Tnc T C 4: 63,970,307 probably benign Het
Ttll8 T C 15: 88,935,999 probably benign Het
Other mutations in Ralbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Ralbp1 APN 17 65864612 missense possibly damaging 0.87
IGL00736:Ralbp1 APN 17 65864723 missense probably damaging 1.00
IGL01318:Ralbp1 APN 17 65864282 missense probably damaging 1.00
IGL02523:Ralbp1 APN 17 65859091 missense probably damaging 0.99
R0507:Ralbp1 UTSW 17 65849960 missense probably benign 0.08
R0666:Ralbp1 UTSW 17 65854129 missense probably benign 0.28
R0674:Ralbp1 UTSW 17 65852753 missense probably benign 0.28
R1418:Ralbp1 UTSW 17 65859148 splice site probably benign
R2136:Ralbp1 UTSW 17 65864666 missense probably damaging 1.00
R2320:Ralbp1 UTSW 17 65852747 missense possibly damaging 0.71
R4657:Ralbp1 UTSW 17 65852691 missense probably null 0.99
R5482:Ralbp1 UTSW 17 65861568 nonsense probably null
R5545:Ralbp1 UTSW 17 65850104 missense possibly damaging 0.77
R5967:Ralbp1 UTSW 17 65864279 missense probably benign 0.19
R6512:Ralbp1 UTSW 17 65861275 missense probably damaging 1.00
R6853:Ralbp1 UTSW 17 65852756 missense possibly damaging 0.86
R7399:Ralbp1 UTSW 17 65854148 missense probably benign 0.01
R7423:Ralbp1 UTSW 17 65858981 missense probably damaging 0.99
R7545:Ralbp1 UTSW 17 65867598 missense probably benign
Posted On2014-01-21