Incidental Mutation 'IGL01805:Ralb'
ID155637
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ralb
Ensembl Gene ENSMUSG00000004451
Gene Namev-ral simian leukemia viral oncogene B
Synonyms5730472O18Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01805
Quality Score
Status
Chromosome1
Chromosomal Location119470305-119504794 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 119475995 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 81 (E81G)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004565]
Predicted Effect probably benign
Transcript: ENSMUST00000004565
AA Change: E134G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000004565
Gene: ENSMUSG00000004451
AA Change: E134G

DomainStartEndE-ValueType
RAS 12 179 1.83e-95 SMART
low complexity region 191 198 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142945
AA Change: E81G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000119849
Gene: ENSMUSG00000004451
AA Change: E81G

DomainStartEndE-ValueType
small_GTPase 2 127 1.15e-37 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTP-binding protein that belongs to the small GTPase superfamily and Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no obvious abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019D03Rik T C 1: 52,925,518 D17G possibly damaging Het
Adam28 G T 14: 68,642,091 S169R probably benign Het
Aox1 T C 1: 58,081,513 M855T possibly damaging Het
Apc C A 18: 34,318,218 N2688K probably benign Het
Arhgap23 T A 11: 97,492,602 probably benign Het
Bpifa6 A G 2: 153,984,912 T66A probably benign Het
C1qtnf1 T A 11: 118,448,167 L221Q probably damaging Het
Ccdc175 T A 12: 72,129,229 probably benign Het
Ccl1 C A 11: 82,178,132 M26I possibly damaging Het
D17Wsu92e C T 17: 27,767,906 probably benign Het
Dnah10 T A 5: 124,783,921 F2123I probably damaging Het
Dpcr1 T A 17: 35,637,643 T355S possibly damaging Het
Fancm T C 12: 65,113,861 probably null Het
Fstl4 C A 11: 53,186,357 A647E probably damaging Het
Hmgb4 G T 4: 128,260,222 probably benign Het
Hr A T 14: 70,565,297 probably benign Het
Kcna4 G T 2: 107,296,498 V526L probably damaging Het
Mas1 T C 17: 12,842,230 Y102C probably damaging Het
Mul1 C T 4: 138,439,663 P343S possibly damaging Het
Obscn T C 11: 59,132,596 S652G probably damaging Het
Olfr972 T C 9: 39,873,779 F168S probably damaging Het
Pjvk A T 2: 76,657,514 N250I probably benign Het
Pkd2 T C 5: 104,483,093 I461T probably benign Het
Psen2 T C 1: 180,229,838 probably null Het
Slc15a4 T C 5: 127,608,836 T261A possibly damaging Het
Vmn2r77 G A 7: 86,811,187 V574M probably benign Het
Xrn2 A G 2: 147,028,143 I251V probably damaging Het
Zfp974 G A 7: 27,912,264 probably benign Het
Other mutations in Ralb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Ralb APN 1 119476040 missense probably benign 0.26
IGL00927:Ralb APN 1 119471776 missense probably benign 0.00
IGL01607:Ralb APN 1 119483549 missense probably damaging 0.96
IGL02330:Ralb APN 1 119471720 missense probably damaging 0.98
R0393:Ralb UTSW 1 119478126 splice site probably null
R1616:Ralb UTSW 1 119478014 missense probably damaging 1.00
R1854:Ralb UTSW 1 119476067 missense possibly damaging 0.94
R3829:Ralb UTSW 1 119471717 missense probably benign 0.04
R4097:Ralb UTSW 1 119483498 missense probably benign 0.03
R4352:Ralb UTSW 1 119483552 missense probably benign 0.09
R4854:Ralb UTSW 1 119475915 missense probably benign 0.12
R5567:Ralb UTSW 1 119483535 missense probably damaging 1.00
R5683:Ralb UTSW 1 119475956 missense possibly damaging 0.86
R6153:Ralb UTSW 1 119478140 splice site probably null
R6358:Ralb UTSW 1 119476005 missense probably damaging 1.00
R6408:Ralb UTSW 1 119478109 nonsense probably null
R6816:Ralb UTSW 1 119477982 nonsense probably null
R7371:Ralb UTSW 1 119472399 missense
Posted On2014-02-04