Incidental Mutation 'IGL00736:Ralbp1'
ID13737
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 #IGL00736
Quality Score
Status
Chromosome17
Chromosomal Location65848433-65885755 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 65864723 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 85 (Y85C)
Ref Sequence ENSEMBL: ENSMUSP00000129448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024905] [ENSMUST00000166543]
Predicted Effect probably damaging
Transcript: ENSMUST00000024905
AA Change: Y85C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024905
Gene: ENSMUSG00000024096
AA Change: Y85C

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: Y85C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129448
Gene: ENSMUSG00000024096
AA Change: Y85C

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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 A G 10: 77,322,490 L41P probably damaging Het
Baz1b A G 5: 135,240,032 Y1245C probably damaging Het
Dnajb7 T A 15: 81,407,573 I188F probably benign Het
Dpf1 A T 7: 29,312,908 K18* probably null Het
Drosha T A 15: 12,833,959 Y50N unknown Het
Eif2s1 T A 12: 78,884,837 probably benign Het
Gde1 T C 7: 118,698,702 E97G probably damaging Het
Lrrc8c G A 5: 105,607,114 V252M probably damaging Het
Megf10 G A 18: 57,292,710 R1056Q probably benign Het
Myo3b A C 2: 70,105,645 probably benign Het
Serpini2 C T 3: 75,267,809 M58I possibly damaging Het
Skor1 C A 9: 63,139,538 Q892H probably damaging Het
Slc22a26 T C 19: 7,790,162 Q292R possibly damaging Het
Smc1b T C 15: 85,129,700 E90G possibly damaging Het
Zmym2 T C 14: 56,903,211 V169A probably benign Het
Other mutations in Ralbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Ralbp1 APN 17 65864612 missense possibly damaging 0.87
IGL01318:Ralbp1 APN 17 65864282 missense probably damaging 1.00
IGL01661:Ralbp1 APN 17 65861389 missense probably damaging 0.99
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 On2012-12-06