Incidental Mutation 'IGL02523:Ralbp1'
ID296943
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 #IGL02523
Quality Score
Status
Chromosome17
Chromosomal Location65848433-65885755 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 65859091 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 366 (E366G)
Ref Sequence ENSEMBL: ENSMUSP00000129448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024905] [ENSMUST00000166543]
Predicted Effect probably damaging
Transcript: ENSMUST00000024905
AA Change: E366G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024905
Gene: ENSMUSG00000024096
AA Change: E366G

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: E366G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129448
Gene: ENSMUSG00000024096
AA Change: E366G

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asah1 T C 8: 41,351,947 D109G probably benign Het
Ces2c C A 8: 104,848,114 P68T probably damaging Het
Csl G A 10: 99,758,813 T130I probably benign Het
Cyp2g1 C T 7: 26,819,187 R376W probably damaging Het
Ddb1 T C 19: 10,627,632 L1029P probably damaging Het
Dennd4c T C 4: 86,774,253 probably benign Het
Eya2 C T 2: 165,754,436 probably benign Het
Fars2 G T 13: 36,204,693 G55V probably damaging Het
Fcgbp C A 7: 28,104,732 A1755E possibly damaging Het
Ggt7 T A 2: 155,514,703 E32V probably damaging Het
Heg1 C A 16: 33,738,622 T1071K probably damaging Het
Hpca A G 4: 129,118,575 F56S probably damaging Het
Hyal4 T A 6: 24,765,969 Y441N probably damaging Het
Igsf8 T A 1: 172,319,413 probably benign Het
Ints13 A G 6: 146,557,611 S301P probably benign Het
Krt33a G A 11: 100,011,692 T374I probably benign Het
Nav3 T C 10: 109,769,296 D972G probably damaging Het
Npc1 T C 18: 12,201,572 T708A probably benign Het
Olfr1113 A T 2: 87,213,320 N143Y probably benign Het
Olfr214 A T 6: 116,557,093 I223L probably benign Het
Olfr355 T C 2: 36,927,955 D53G probably damaging Het
Olfr62 A T 4: 118,666,041 N175Y probably benign Het
P2rx2 A G 5: 110,342,042 S87P probably damaging Het
Pdxdc1 A T 16: 13,881,935 L62H probably damaging Het
Plekhj1 A T 10: 80,797,849 probably null Het
Ptbp2 A T 3: 119,740,487 Y244* probably null Het
Rergl T A 6: 139,496,460 probably benign Het
Slc25a45 T A 19: 5,884,609 probably null Het
Spop G A 11: 95,485,921 D267N possibly damaging Het
Tars2 T C 3: 95,741,393 D625G probably damaging Het
Tlk2 A G 11: 105,275,947 K593R probably damaging Het
Tlr3 T A 8: 45,398,391 probably null Het
Tmem205 C T 9: 21,921,288 R109H probably benign Het
Tmem41b A G 7: 109,982,728 I56T probably damaging Het
Ube2q2 T C 9: 55,191,879 V168A probably damaging Het
Ufsp2 T A 8: 45,983,548 M112K probably damaging Het
Wipi2 T A 5: 142,661,032 V208E probably damaging Het
Xkr9 A G 1: 13,684,250 E156G 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
IGL01661:Ralbp1 APN 17 65861389 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 On2015-04-16