Incidental Mutation 'IGL00671:Ralbp1'
ID13736
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: 0.645) question?
Stock #IGL00671
Quality Score
Status
Chromosome17
Chromosomal Location65848433-65885755 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 65864612 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 122 (E122V)
Ref Sequence ENSEMBL: ENSMUSP00000129448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024905] [ENSMUST00000166543]
Predicted Effect possibly damaging
Transcript: ENSMUST00000024905
AA Change: E122V

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000024905
Gene: ENSMUSG00000024096
AA Change: E122V

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 possibly damaging
Transcript: ENSMUST00000166543
AA Change: E122V

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129448
Gene: ENSMUSG00000024096
AA Change: E122V

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik A T 1: 26,684,859 S413R possibly damaging Het
Abcb4 A T 5: 8,930,745 R576* probably null Het
Astl T C 2: 127,344,021 probably null Het
Atp6v1h T C 1: 5,124,471 probably null Het
Avpr1a A T 10: 122,449,351 I183L probably benign Het
Cep83 A G 10: 94,789,764 T679A possibly damaging Het
Dennd1b A T 1: 139,133,737 I386F possibly damaging Het
Ect2 T C 3: 27,138,669 N344S probably benign Het
Ghrh G A 2: 157,333,469 H31Y probably benign Het
Gpc6 A T 14: 117,186,787 T96S probably benign Het
Man2b1 A C 8: 85,093,938 D618A probably damaging Het
Mgea5 C A 19: 45,765,540 A632S possibly damaging Het
Myh2 A G 11: 67,193,357 E1602G probably damaging Het
Myo16 T A 8: 10,361,067 I175N probably damaging Het
Otof C T 5: 30,385,753 probably null Het
Otop2 A G 11: 115,331,909 N539S probably damaging Het
Pih1d3 G A 1: 31,222,972 V12I probably benign Het
Tcf12 T A 9: 71,868,118 N450I probably damaging Het
Tle3 T A 9: 61,412,370 N492K probably damaging Het
Ttll8 T C 15: 88,914,153 D793G probably benign Het
Uggt2 T C 14: 119,042,799 T756A possibly damaging Het
Zfand1 T C 3: 10,346,024 H96R probably damaging Het
Zfp617 C T 8: 71,932,542 R239* probably null Het
Zmpste24 A G 4: 121,082,815 probably benign Het
Other mutations in Ralbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00736:Ralbp1 APN 17 65864723 missense probably damaging 1.00
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