Incidental Mutation 'IGL01936:Ruvbl2'
ID180684
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 #IGL01936
Quality Score
Status
Chromosome7
Chromosomal Location45421760-45438096 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45428698 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 117 (E117G)
Ref Sequence ENSEMBL: ENSMUSP00000148040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107771] [ENSMUST00000210439] [ENSMUST00000211214] [ENSMUST00000211666]
Predicted Effect probably damaging
Transcript: ENSMUST00000107771
AA Change: E117G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103400
Gene: ENSMUSG00000003868
AA Change: E117G

DomainStartEndE-ValueType
AAA 69 361 5.17e-10 SMART
Blast:AAA 373 417 3e-17 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000210439
AA Change: E97G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211214
AA Change: E117G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect unknown
Transcript: ENSMUST00000211440
AA Change: E112G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211478
Predicted Effect probably damaging
Transcript: ENSMUST00000211666
AA Change: E117G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T A 5: 89,861,423 H127L probably benign Het
Adamtsl3 T C 7: 82,595,371 V419A possibly damaging Het
Arhgap31 T A 16: 38,602,925 L926F probably damaging Het
Asgr2 A T 11: 70,098,051 probably null Het
C3ar1 T A 6: 122,851,235 T8S probably benign Het
Caskin2 T C 11: 115,804,717 I273V probably damaging Het
Ccnl2 T A 4: 155,820,399 C242S probably damaging Het
Cdkn2a A T 4: 89,294,332 probably null Het
Cfap45 T G 1: 172,534,049 M231R probably damaging Het
Clcn7 A C 17: 25,155,376 N464H probably benign Het
Col20a1 T A 2: 181,009,368 probably benign Het
Col7a1 T A 9: 108,967,999 probably benign Het
Cops7a T C 6: 124,962,416 D90G probably benign Het
Ctcf T C 8: 105,670,232 V363A probably benign Het
Cyp2j12 A G 4: 96,133,069 V100A probably benign Het
Dcaf1 T A 9: 106,859,601 F1085Y possibly damaging Het
Drc7 T A 8: 95,074,132 F594Y possibly damaging Het
Ehbp1l1 C A 19: 5,718,249 E1009* probably null Het
Epg5 C A 18: 77,985,101 R1286S probably damaging Het
Etv1 T C 12: 38,835,061 probably benign Het
Exosc7 T C 9: 123,135,891 probably benign Het
Fam227a T C 15: 79,612,546 D610G possibly damaging Het
Fat4 T A 3: 38,979,774 M2525K probably benign Het
Gimap5 G T 6: 48,753,065 A190S probably damaging Het
Glcci1 T A 6: 8,579,596 S79T probably damaging Het
Gm10093 T C 17: 78,492,129 V183A probably damaging Het
Gpnmb C T 6: 49,047,450 T233I probably null Het
Hyls1 T C 9: 35,562,067 I18V probably benign Het
Ighv1-63 C T 12: 115,495,654 E108K probably damaging Het
Ighv5-12 C A 12: 113,702,307 R57L probably damaging Het
Igkv5-37 T C 6: 69,963,339 Y107C probably damaging Het
Il20ra T A 10: 19,755,843 V264D probably damaging Het
Jph1 A T 1: 17,097,384 V74E probably damaging Het
Kcnab1 C T 3: 65,358,274 L280F probably damaging Het
Kcnk1 T C 8: 126,025,087 F144S probably damaging Het
Kcnq1 G A 7: 143,184,504 E294K possibly damaging Het
Kdm4b T A 17: 56,397,355 V813E probably damaging Het
Kntc1 T A 5: 123,811,376 F1937I probably damaging Het
Ldb2 G A 5: 44,480,244 R241W probably damaging Het
Lgr5 T C 10: 115,452,414 N703S probably damaging Het
Map4k1 A T 7: 28,988,607 M227L possibly damaging Het
Mbnl1 T A 3: 60,613,519 M268K possibly damaging Het
Mcm2 C A 6: 88,891,726 G350C probably damaging Het
Myh2 A T 11: 67,191,773 T1390S possibly damaging Het
Npat T A 9: 53,558,226 probably benign Het
Nr2e1 T A 10: 42,567,973 D251V possibly damaging Het
Olfr1425 C T 19: 12,074,057 V192I probably benign Het
Olfr1461 C A 19: 13,165,403 P130T probably damaging Het
Olfr54 A G 11: 51,027,335 N111S probably benign Het
Plekha5 T A 6: 140,524,895 H87Q probably damaging Het
Polr3a A G 14: 24,479,188 V368A probably damaging Het
Psmb8 T A 17: 34,200,194 L154Q probably damaging Het
Rab40c A C 17: 25,884,670 C140G probably damaging Het
Ranbp17 G A 11: 33,487,689 T183I probably benign Het
Serpinb3b T A 1: 107,154,638 M299L probably benign Het
Smpdl3a A G 10: 57,802,434 H111R probably damaging Het
Sspo C A 6: 48,475,887 P2843H probably damaging Het
Stk39 T C 2: 68,314,564 T389A probably benign Het
Synrg T A 11: 84,019,705 F1000Y probably benign Het
Thbs2 C T 17: 14,687,814 S229N probably benign Het
Thsd1 G A 8: 22,252,231 C305Y probably damaging Het
Ticrr C A 7: 79,694,549 D1387E probably benign Het
Tmem145 G T 7: 25,311,391 A383S probably damaging Het
Tmprss4 A G 9: 45,179,420 V187A probably damaging Het
Unc13c T A 9: 73,693,242 M1407L probably benign Het
Vps39 C T 2: 120,323,128 G655D probably benign Het
Wwtr1 T C 3: 57,574,820 probably benign Het
Xrn1 T C 9: 96,048,344 S1535P probably 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
IGL02282:Ruvbl2 APN 7 45425165 missense probably benign
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
R7366:Ruvbl2 UTSW 7 45422149 missense probably benign 0.38
Posted On2014-05-07