Incidental Mutation 'IGL01318:Ralbp1'
ID 73922
Institutional Source Australian Phenomics Network (link to record)
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) question?
Stock # IGL01318
Quality Score
Status
Chromosome 17
Chromosomal Location 66155410-66192750 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 66171277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 232 (R232L)
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: R232L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024905
Gene: ENSMUSG00000024096
AA Change: R232L

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: R232L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129448
Gene: ENSMUSG00000024096
AA Change: R232L

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg10b T C 15: 90,112,592 (GRCm39) probably benign Het
Ambn T C 5: 88,608,554 (GRCm39) probably benign Het
Asap2 A G 12: 21,297,296 (GRCm39) D585G probably null Het
Chaf1a G T 17: 56,366,336 (GRCm39) probably benign Het
Ddhd1 A G 14: 45,854,008 (GRCm39) S443P probably damaging Het
Dlk2 A G 17: 46,613,390 (GRCm39) E215G probably damaging Het
Efhd2 T C 4: 141,587,176 (GRCm39) N202S probably benign Het
Gkap1 A T 13: 58,384,853 (GRCm39) I308K probably damaging Het
Gm9848 T A 13: 113,244,774 (GRCm39) noncoding transcript Het
Hmcn1 G A 1: 150,594,991 (GRCm39) T1826I probably damaging Het
Htr5a T C 5: 28,047,742 (GRCm39) V99A probably benign Het
Inha T G 1: 75,486,572 (GRCm39) F289C probably damaging Het
Kcna3 T C 3: 106,945,294 (GRCm39) V519A probably benign Het
Kcnma1 A T 14: 23,364,390 (GRCm39) probably benign Het
Kctd1 A G 18: 15,195,747 (GRCm39) V292A possibly damaging Het
Magea13 T A X: 57,964,829 (GRCm39) I196N probably damaging Het
Map2k4 A G 11: 65,647,089 (GRCm39) probably benign Het
Mfap2 G T 4: 140,742,856 (GRCm39) A175S possibly damaging Het
Milr1 G A 11: 106,656,071 (GRCm39) A114T possibly damaging Het
Mogs G T 6: 83,095,558 (GRCm39) V792F probably damaging Het
Nt5dc3 T A 10: 86,661,089 (GRCm39) M418K possibly damaging Het
Or5b12 A G 19: 12,897,490 (GRCm39) L61P probably damaging Het
Or7d10 A G 9: 19,832,054 (GRCm39) E183G probably benign Het
Or8h8 A T 2: 86,753,293 (GRCm39) N194K probably benign Het
Osbpl10 G A 9: 115,061,190 (GRCm39) W756* probably null Het
Pgam5 A G 5: 110,413,391 (GRCm39) Y235H probably damaging Het
Pgm5 G T 19: 24,793,842 (GRCm39) A274E probably damaging Het
Prex1 C A 2: 166,411,260 (GRCm39) probably benign Het
Prps1l1 A T 12: 35,035,377 (GRCm39) N164I probably benign Het
Rnaseh2a C T 8: 85,691,752 (GRCm39) probably benign Het
Stard9 A T 2: 120,529,200 (GRCm39) H1819L possibly damaging Het
Stom T A 2: 35,226,889 (GRCm39) I15F probably benign Het
Tasor2 A C 13: 3,625,067 (GRCm39) S946A possibly damaging Het
Tph1 T G 7: 46,314,662 (GRCm39) T22P probably damaging Het
Uqcrfs1 A G 13: 30,724,904 (GRCm39) I212T probably benign Het
Ush2a T C 1: 188,546,550 (GRCm39) I3442T probably benign Het
Vinac1 C A 2: 128,880,622 (GRCm39) V435L probably benign Het
Vmn2r113 A G 17: 23,177,309 (GRCm39) I698V probably benign Het
Vmn2r75 T C 7: 85,814,774 (GRCm39) I240V probably benign Het
Wdr17 T C 8: 55,125,585 (GRCm39) T432A probably damaging Het
Other mutations in Ralbp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2013-10-07