Incidental Mutation 'IGL00927:Ralb'
ID26648
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 #IGL00927
Quality Score
Status
Chromosome1
Chromosomal Location119470305-119504794 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 119471776 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 184 (N184I)
Ref Sequence ENSEMBL: ENSMUSP00000004565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004565]
Predicted Effect probably benign
Transcript: ENSMUST00000004565
AA Change: N184I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000004565
Gene: ENSMUSG00000004451
AA Change: N184I

DomainStartEndE-ValueType
RAS 12 179 1.83e-95 SMART
low complexity region 191 198 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142945
SMART Domains Protein: ENSMUSP00000119849
Gene: ENSMUSG00000004451

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,208,848 T92A probably damaging Het
Ankhd1 A G 18: 36,632,072 S1007G probably benign Het
Cabp4 A T 19: 4,139,407 S50R possibly damaging Het
Camp A T 9: 109,849,268 L56Q probably damaging Het
Cblb A G 16: 52,166,098 N568S probably benign Het
Ccr6 C A 17: 8,255,993 T10K probably benign Het
Chit1 T C 1: 134,145,254 F106S probably damaging Het
Cyb561d1 A G 3: 108,199,627 L34P probably damaging Het
Dcun1d1 A T 3: 35,920,965 probably benign Het
Deup1 A G 9: 15,610,671 probably benign Het
Erich1 A G 8: 14,033,518 F184S probably damaging Het
Fmnl3 A G 15: 99,337,628 probably null Het
Grk2 T C 19: 4,287,954 N508S probably benign Het
Herc4 A G 10: 63,273,537 I184V probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kif3b G A 2: 153,316,461 A61T possibly damaging Het
Kmt2d G A 15: 98,845,009 probably benign Het
Lrrc7 C A 3: 158,161,090 V1005L possibly damaging Het
Lrrtm1 A T 6: 77,244,063 M168L probably benign Het
Ndc1 C T 4: 107,384,780 probably benign Het
Nphs1 A G 7: 30,460,739 probably benign Het
Olfr692 A T 7: 105,369,247 Y298F probably damaging Het
Pbld2 T C 10: 63,071,955 V200A probably benign Het
Pcdhb21 A G 18: 37,514,553 Y245C probably damaging Het
Pcm1 A G 8: 41,287,881 T1055A probably damaging Het
Plcl2 C T 17: 50,606,920 S319L probably benign Het
Plekha8 C A 6: 54,629,837 Y372* probably null Het
Robo3 C T 9: 37,427,754 probably null Het
Slc41a1 T A 1: 131,839,176 L144H probably damaging Het
Smg1 C T 7: 118,140,632 G3364D probably damaging Het
Theg A G 10: 79,576,599 S329P probably damaging Het
Ttc26 T C 6: 38,382,220 probably benign Het
Vmn1r123 T A 7: 21,162,291 V36D possibly damaging Het
Zbtb7c T C 18: 76,145,850 S460P possibly damaging Het
Zscan30 T C 18: 23,971,777 noncoding transcript Het
Other mutations in Ralb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Ralb APN 1 119476040 missense probably benign 0.26
IGL01607:Ralb APN 1 119483549 missense probably damaging 0.96
IGL01805:Ralb APN 1 119475995 missense probably benign 0.03
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
R8890:Ralb UTSW 1 119483516 missense probably damaging 1.00
Posted On2013-04-17