Incidental Mutation 'R6408:Ralb'
ID514516
Institutional Source Beutler Lab
Gene Symbol Ralb
Ensembl Gene ENSMUSG00000004451
Gene Namev-ral simian leukemia viral oncogene B
Synonyms5730472O18Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6408 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location119470305-119504794 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to C at 119478109 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 43 (Y43*)
Ref Sequence ENSEMBL: ENSMUSP00000004565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004565]
Predicted Effect probably null
Transcript: ENSMUST00000004565
AA Change: Y43*
SMART Domains Protein: ENSMUSP00000004565
Gene: ENSMUSG00000004451
AA Change: Y43*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156213
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.2%
Validation Efficiency 94% (45/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik T C 5: 107,543,992 S50P probably damaging Het
4930407I10Rik T C 15: 82,065,106 V1068A possibly damaging Het
Acss1 A G 2: 150,628,492 probably null Het
Amer2 T C 14: 60,380,225 I497T probably damaging Het
Azi2 A T 9: 118,061,482 R51* probably null Het
BC005561 A G 5: 104,518,777 I388M probably benign Het
Brdt A G 5: 107,385,492 D946G probably damaging Het
Bzw2 C T 12: 36,107,525 V314I possibly damaging Het
Capn13 A T 17: 73,365,959 Y116* probably null Het
Clca4b A G 3: 144,919,275 I485T probably benign Het
Crybg3 T A 16: 59,495,690 T1130S possibly damaging Het
Cubn C T 2: 13,294,203 V3220M probably damaging Het
Cyp4f16 T A 17: 32,551,199 L514Q probably damaging Het
D7Ertd443e G T 7: 134,349,711 Q31K probably benign Het
Dcaf15 T C 8: 84,104,726 E8G probably benign Het
Ddx24 A C 12: 103,425,560 probably benign Het
Diaph3 T C 14: 86,828,994 M988V possibly damaging Het
Dlx4 A G 11: 95,145,252 V77A probably benign Het
Dnah3 T C 7: 119,922,968 probably null Het
Drc1 A G 5: 30,356,288 E396G probably benign Het
Gab1 C A 8: 80,788,597 R364L possibly damaging Het
Gbp2b T C 3: 142,618,138 L568S probably benign Het
Gjb5 A T 4: 127,356,147 F68Y probably benign Het
Gm17359 A G 3: 79,449,399 R170G probably benign Het
Gm9008 A G 6: 76,496,458 C392R probably damaging Het
Hs6st3 C A 14: 119,138,634 P74T probably benign Het
Kif26b T C 1: 178,917,568 L1743P probably damaging Het
Lnx1 A T 5: 74,685,646 C48S probably damaging Het
Lrfn2 A G 17: 49,070,626 H245R probably damaging Het
Lrrc27 A G 7: 139,218,268 E93G probably benign Het
Mettl6 T C 14: 31,479,726 E253G probably damaging Het
Nmu A T 5: 76,343,971 F106Y probably damaging Het
Pcsk7 T C 9: 45,909,696 I142T probably benign Het
Polr3a A T 14: 24,486,871 probably null Het
Psmb9 G T 17: 34,185,733 A19E probably damaging Het
Pus7l A G 15: 94,531,575 M454T probably benign Het
Raet1e A G 10: 22,180,746 T74A probably benign Het
Ralgapa1 C A 12: 55,683,910 E1947* probably null Het
Robo1 T C 16: 72,972,046 Y500H probably benign Het
Shroom1 A C 11: 53,463,387 T45P probably benign Het
Slit2 A G 5: 47,984,986 probably benign Het
Srgap3 T C 6: 112,723,006 S1004G probably damaging Het
Taok2 A G 7: 126,870,992 V888A probably benign Het
Tbc1d8 T A 1: 39,402,899 D204V probably damaging Het
Trav7d-4 C A 14: 52,770,167 A39D probably damaging Het
Ush2a G T 1: 188,267,032 E180* probably null Het
Vmn1r37 A G 6: 66,731,579 D63G probably benign Het
Zfp282 G A 6: 47,880,385 R184Q probably damaging 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
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 unclassified probably null
R6358:Ralb UTSW 1 119476005 missense probably damaging 1.00
R6816:Ralb UTSW 1 119477982 nonsense probably null
R7371:Ralb UTSW 1 119472399 missense
Predicted Primers PCR Primer
(F):5'- GCTGTGAAAGACTCGTGCTC -3'
(R):5'- GCTATTAAGGCAGGAAGTGTTC -3'

Sequencing Primer
(F):5'- TGCTCTGTGATGGAGAACACC -3'
(R):5'- TGGGACATGCTTGCAATTCCAAC -3'
Posted On2018-05-04