Incidental Mutation 'R6222:Ruvbl2'
ID504080
Institutional Source Beutler Lab
Gene Symbol Ruvbl2
Ensembl Gene ENSMUSG00000003868
Gene NameRuvB-like protein 2
Synonymsp47, mp47
MMRRC Submission 044353-MU
Accession Numbers

Genbank: NM_011304

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R6222 (G1)
Quality Score225.009
Status Not validated
Chromosome7
Chromosomal Location45421760-45438096 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 45424725 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 248 (D248E)
Ref Sequence ENSEMBL: ENSMUSP00000147502 (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 damaging
Transcript: ENSMUST00000107771
AA Change: D248E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103400
Gene: ENSMUSG00000003868
AA Change: D248E

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 damaging
Transcript: ENSMUST00000210439
AA Change: D228E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211214
AA Change: D248E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211440
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211478
Predicted Effect probably benign
Transcript: ENSMUST00000211666
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.6%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T C 14: 35,809,966 *217W probably null Het
Abcc3 A G 11: 94,368,605 F337L probably benign Het
Abcc4 T A 14: 118,529,956 H903L probably damaging Het
Akap7 T A 10: 25,283,946 K119* probably null Het
Als2 T C 1: 59,180,125 D1222G probably benign Het
Ano4 T C 10: 89,027,222 Y296C probably damaging Het
Arid1b A G 17: 5,327,647 probably null Het
Arl10 T C 13: 54,578,831 F141L probably damaging Het
B130006D01Rik T C 11: 95,726,162 probably benign Het
Bbs9 T A 9: 22,567,851 S197T possibly damaging Het
Bicd1 A T 6: 149,512,965 D392V probably damaging Het
Bmi1 T A 2: 18,683,702 M168K possibly damaging Het
C7 A T 15: 5,011,941 D494E possibly damaging Het
Cacna1s A T 1: 136,104,622 N1221I probably benign Het
Cacng7 A G 7: 3,336,612 T10A probably damaging Het
Ccdc13 A G 9: 121,798,909 probably benign Het
Cdpf1 T C 15: 85,807,442 R108G possibly damaging Het
Ceacam5 A T 7: 17,745,547 K196N probably benign Het
Cftr A C 6: 18,282,501 T1067P probably benign Het
Cma2 T C 14: 55,973,192 I112T possibly damaging Het
Cntnap4 A G 8: 112,842,721 S916G probably damaging Het
Cwf19l2 T A 9: 3,454,569 Y627* probably null Het
Dusp27 G T 1: 166,098,645 Q1133K probably benign Het
Fam204a A G 19: 60,199,968 probably null Het
Galnt1 T A 18: 24,264,534 probably null Het
Gbe1 T C 16: 70,529,012 probably null Het
Gm5771 A T 6: 41,397,166 Y234F probably damaging Het
Gm6871 C T 7: 41,546,582 D244N probably damaging Het
Gna15 T C 10: 81,512,046 T189A probably damaging Het
Igsf10 C T 3: 59,318,915 D2446N possibly damaging Het
Ing2 T C 8: 47,668,931 K194R possibly damaging Het
Ino80d G A 1: 63,058,525 H737Y probably damaging Het
Izumo4 C T 10: 80,703,051 R83W probably damaging Het
Kcnt1 G A 2: 25,892,510 V219M probably damaging Het
Kiz A T 2: 146,891,061 S386C probably damaging Het
Ldlrap1 C T 4: 134,757,360 E108K probably damaging Het
Nol11 G T 11: 107,171,616 T598K possibly damaging Het
Olfr1186 T C 2: 88,499,270 Y62H probably benign Het
Olfr1368 T C 13: 21,142,877 Y60C probably damaging Het
Pdzd2 T C 15: 12,374,566 K1828E probably damaging Het
Prl3a1 T C 13: 27,276,114 F194L probably benign Het
Reg1 A T 6: 78,427,374 Q77L probably benign Het
Sart3 C T 5: 113,743,206 A938T probably benign Het
Serpinb5 T A 1: 106,870,340 C20S probably benign Het
Sh2d4b A C 14: 40,820,737 S361A probably damaging Het
Snx2 T A 18: 53,199,824 L190* probably null Het
Sorcs3 A T 19: 48,759,857 Y755F possibly damaging Het
Tiam2 A G 17: 3,453,338 Q930R probably damaging Het
Tll1 C A 8: 64,098,534 G271V probably benign Het
Tmem116 C T 5: 121,491,108 T188M probably benign Het
Tmem181a T C 17: 6,300,917 V367A probably benign Het
Umodl1 T C 17: 31,002,892 probably null Het
Virma C T 4: 11,527,820 A1187V probably damaging Het
Wdr53 T C 16: 32,256,664 V229A probably benign Het
Zcchc10 T C 11: 53,332,462 probably benign 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
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 splice site 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
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
R8179:Ruvbl2 UTSW 7 45422772 missense probably damaging 0.99
R8410:Ruvbl2 UTSW 7 45431332 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTGCAGGAAAGGACACACTC -3'
(R):5'- CACACTGGGATGTTTCTGTATCTTC -3'

Sequencing Primer
(F):5'- CAGGAAAGGACACACTCAGACG -3'
(R):5'- ATCTTCATGGGGTCCGGATGC -3'
Posted On2018-02-28