Incidental Mutation 'IGL02282:Ruvbl2'
ID289874
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ruvbl2
Ensembl Gene ENSMUSG00000003868
Gene NameRuvB-like protein 2
Synonymsp47, mp47
Accession Numbers

Genbank: NM_011304

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02282
Quality Score
Status
Chromosome7
Chromosomal Location45421760-45438096 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 45425165 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 183 (T183I)
Ref Sequence ENSEMBL: ENSMUSP00000148040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072453] [ENSMUST00000107771] [ENSMUST00000210271] [ENSMUST00000210439] [ENSMUST00000211214] [ENSMUST00000211666]
Predicted Effect probably benign
Transcript: ENSMUST00000072453
SMART Domains Protein: ENSMUSP00000072276
Gene: ENSMUSG00000100916

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
GHB 25 131 2.2e-64 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107771
AA Change: T183I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103400
Gene: ENSMUSG00000003868
AA Change: T183I

DomainStartEndE-ValueType
AAA 69 361 5.17e-10 SMART
Blast:AAA 373 417 3e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000209426
Predicted Effect probably benign
Transcript: ENSMUST00000210271
Predicted Effect probably benign
Transcript: ENSMUST00000210439
AA Change: T163I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211214
AA Change: T183I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211440
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211478
Predicted Effect probably benign
Transcript: ENSMUST00000211666
AA Change: T183I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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 the second human homologue of the bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. Functional analysis showed that this gene product has both ATPase and DNA helicase activities. This gene is physically linked to the CGB/LHB gene cluster on chromosome 19q13.3, and is very close (55 nt) to the LHB gene, in the opposite orientation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit lethality. Mice heterozygous for a knock-out allele exhibit impaired T cell development and maximal T dependent antibody responses. [provided by MGI curators]
Allele List at MGI

All alleles(12) : Targeted, knock-out(1) Gene trapped(11)

Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik C T 11: 78,284,228 P1730S probably benign Het
Ahnak A G 19: 9,005,987 D1545G probably damaging Het
AI481877 A C 4: 59,111,114 Y53D unknown Het
Baiap3 A C 17: 25,249,377 D234E probably benign Het
Cand1 T A 10: 119,210,709 T959S probably benign Het
Ctdspl2 A G 2: 121,977,478 probably benign Het
Cyp2a4 A C 7: 26,309,047 M205L probably benign Het
Dlx5 G A 6: 6,881,762 A42V probably damaging Het
Dnah7a A G 1: 53,643,510 I267T possibly damaging Het
Dnajb6 A G 5: 29,752,418 D66G probably damaging Het
Fgf8 T C 19: 45,737,090 H201R possibly damaging Het
Gpc1 A G 1: 92,857,967 K460E probably damaging Het
Gzme A T 14: 56,118,369 L162Q probably damaging Het
Ik G A 18: 36,745,644 G17D probably damaging Het
Il4 G A 11: 53,618,174 T59M probably damaging Het
Kcnh3 G T 15: 99,228,043 probably null Het
Mill1 G T 7: 18,263,204 probably null Het
Npbwr1 A T 1: 5,916,965 M110K possibly damaging Het
Olfr1490 T A 19: 13,655,258 D276E probably damaging Het
Olfr849 A G 9: 19,441,618 Y235C probably benign Het
Olfr881 A T 9: 37,993,022 I177F probably damaging Het
Opalin A T 19: 41,066,504 S84T probably benign Het
Pcdhb11 T C 18: 37,423,828 L737P probably damaging Het
Phip G A 9: 82,913,690 S626L probably benign Het
Ppl T C 16: 5,101,458 D435G probably damaging Het
Prss37 A G 6: 40,515,383 V178A possibly damaging Het
Ptpn7 A G 1: 135,134,834 I104V probably damaging Het
Ptprn A G 1: 75,253,156 Y700H probably damaging Het
Rab11fip5 T A 6: 85,337,552 T555S probably damaging Het
Rfwd3 A T 8: 111,293,982 probably benign Het
Robo1 G A 16: 72,742,138 R41H probably damaging Het
Rps3 A G 7: 99,479,272 probably null Het
Sema4c A T 1: 36,550,203 probably null Het
Taar8b T A 10: 24,091,555 K247I possibly damaging Het
Tacr3 A T 3: 134,861,073 I236F probably benign Het
Ttc21b A G 2: 66,191,737 I1168T probably damaging Het
Ttc9b A T 7: 27,655,911 D202V probably damaging Het
Vmn2r26 T G 6: 124,061,625 C720G probably damaging Het
Vmn2r37 A G 7: 9,206,762 S584P probably benign Het
Wnk2 T A 13: 49,068,125 D1208V probably damaging Het
Zfp988 T A 4: 147,331,668 C186* probably null Het
Zp3 A G 5: 135,984,351 N179S possibly damaging Het
Other mutations in Ruvbl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Ruvbl2 APN 7 45425172 missense probably benign 0.07
IGL00970:Ruvbl2 APN 7 45429570 missense possibly damaging 0.59
IGL01084:Ruvbl2 APN 7 45422523 splice site probably null
IGL01382:Ruvbl2 APN 7 45422737 missense probably benign 0.00
IGL01798:Ruvbl2 APN 7 45422163 missense probably damaging 1.00
IGL01936:Ruvbl2 APN 7 45428698 missense probably damaging 1.00
Worker UTSW 7 45431318 critical splice donor site probably benign
R0510:Ruvbl2 UTSW 7 45431306 splice site probably benign
R0570:Ruvbl2 UTSW 7 45422197 missense probably damaging 1.00
R1533:Ruvbl2 UTSW 7 45424142 missense probably damaging 1.00
R1591:Ruvbl2 UTSW 7 45424711 missense possibly damaging 0.57
R1679:Ruvbl2 UTSW 7 45424967 missense probably damaging 1.00
R1758:Ruvbl2 UTSW 7 45425162 missense probably benign 0.39
R2113:Ruvbl2 UTSW 7 45424103 unclassified probably null
R3017:Ruvbl2 UTSW 7 45422164 missense probably damaging 0.99
R3806:Ruvbl2 UTSW 7 45422190 missense possibly damaging 0.65
R4940:Ruvbl2 UTSW 7 45424726 missense probably damaging 1.00
R6045:Ruvbl2 UTSW 7 45425009 missense probably damaging 1.00
R6222:Ruvbl2 UTSW 7 45424725 missense probably damaging 1.00
R6754:Ruvbl2 UTSW 7 45428758 missense probably benign 0.07
R6947:Ruvbl2 UTSW 7 45424949 critical splice donor site probably null
Posted On2015-04-16