Incidental Mutation 'R6048:Ruvbl1'
ID 483383
Institutional Source Beutler Lab
Gene Symbol Ruvbl1
Ensembl Gene ENSMUSG00000030079
Gene Name RuvB-like AAA ATPase 1
Synonyms Pontin52, 2510009G06Rik, Tip49a
MMRRC Submission 044216-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R6048 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 88442391-88474548 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88459973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 211 (T211I)
Ref Sequence ENSEMBL: ENSMUSP00000032165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032165] [ENSMUST00000129035]
AlphaFold P60122
Predicted Effect possibly damaging
Transcript: ENSMUST00000032165
AA Change: T211I

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032165
Gene: ENSMUSG00000030079
AA Change: T211I

DomainStartEndE-ValueType
AAA 62 365 1.51e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129035
SMART Domains Protein: ENSMUSP00000117925
Gene: ENSMUSG00000030079

DomainStartEndE-ValueType
Pfam:AAA_19 1 77 1.3e-7 PFAM
Pfam:TIP49 1 134 2.7e-60 PFAM
Pfam:RuvB_N 2 52 5.5e-7 PFAM
Pfam:AAA 6 80 1.5e-10 PFAM
Meta Mutation Damage Score 0.2311 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 98% (60/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has both DNA-dependent ATPase and DNA helicase activities and belongs to the ATPases associated with diverse cellular activities (AAA+) protein family. The encoded protein associates with several multisubunit transcriptional complexes and with protein complexes involved in both ATP-dependent remodeling and histone modification. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null allele show impaired proliferation of the pluripotent inner mass cells and embryonic lethality before implantation. Conditional ablation of this gene in hematopoietic tissues leads to bone marrow failure involving apoptotic loss of hematopoietic stem cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a2 T C 9: 71,169,049 (GRCm39) I177T probably damaging Het
Aopep T A 13: 63,388,139 (GRCm39) F39L probably damaging Het
Arl4c A G 1: 88,629,350 (GRCm39) S13P possibly damaging Het
Bst1 G T 5: 43,976,306 (GRCm39) probably benign Het
Carmil3 G A 14: 55,741,302 (GRCm39) R1029Q probably benign Het
Cflar A G 1: 58,780,202 (GRCm39) T269A probably benign Het
Clcnka T A 4: 141,121,798 (GRCm39) Y236F probably damaging Het
Clmp T A 9: 40,682,405 (GRCm39) I63N probably damaging Het
Cln6 T C 9: 62,751,908 (GRCm39) L44P probably damaging Het
Col5a3 C T 9: 20,718,915 (GRCm39) A280T unknown Het
Dact2 A G 17: 14,417,567 (GRCm39) L211P probably damaging Het
Dclk2 G T 3: 86,813,272 (GRCm39) Q225K probably damaging Het
Ddx60 T C 8: 62,453,616 (GRCm39) F1245S probably benign Het
Efcab3 A G 11: 104,835,259 (GRCm39) K3540E unknown Het
Eif3i T C 4: 129,487,145 (GRCm39) N240S probably benign Het
Enpp1 T C 10: 24,536,152 (GRCm39) Y416C probably damaging Het
Epb42 T A 2: 120,854,889 (GRCm39) R565S probably benign Het
Eral1 G A 11: 77,966,609 (GRCm39) P217L probably benign Het
Fbxl16 A G 17: 26,035,967 (GRCm39) Y188C probably benign Het
Fgd3 G A 13: 49,427,224 (GRCm39) P503S probably benign Het
Frem3 T C 8: 81,340,062 (GRCm39) L785P probably benign Het
Gadl1 A G 9: 115,835,769 (GRCm39) probably null Het
Gm10787 C T 10: 76,857,676 (GRCm39) noncoding transcript Het
Gm6563 A G 19: 23,653,246 (GRCm39) K12R probably benign Het
Grm5 T C 7: 87,675,758 (GRCm39) L424P probably damaging Het
H2ac11 A G 13: 22,227,006 (GRCm39) V31A probably benign Het
Il17re T C 6: 113,447,069 (GRCm39) S607P possibly damaging Het
Ints7 A G 1: 191,353,524 (GRCm39) probably benign Het
Itih1 A G 14: 30,651,780 (GRCm39) M854T possibly damaging Het
Kif1b A G 4: 149,348,086 (GRCm39) L315P probably damaging Het
Ms4a6b T C 19: 11,497,734 (GRCm39) V11A possibly damaging Het
Mxd1 C A 6: 86,627,966 (GRCm39) D191Y probably damaging Het
Nol8 T A 13: 49,807,160 (GRCm39) probably null Het
Ntn4 T A 10: 93,543,128 (GRCm39) probably null Het
Nxph1 A T 6: 9,247,103 (GRCm39) T25S probably benign Het
Or1n1 A G 2: 36,749,853 (GRCm39) V169A probably benign Het
Or2bd2 A C 7: 6,443,354 (GRCm39) T152P possibly damaging Het
Or3a1 A T 11: 74,225,961 (GRCm39) I32K probably benign Het
Or51f1d A G 7: 102,700,526 (GRCm39) N7S probably benign Het
Or5ac20 C T 16: 59,104,342 (GRCm39) V173I probably benign Het
Or6c219 A G 10: 129,781,695 (GRCm39) F79L possibly damaging Het
Oxsm T A 14: 16,242,308 (GRCm38) M154L possibly damaging Het
Papolg A C 11: 23,841,815 (GRCm39) I36S probably benign Het
Pde3b T A 7: 114,107,502 (GRCm39) H544Q probably benign Het
Pdzd2 A T 15: 12,592,656 (GRCm39) probably null Het
Prkce C A 17: 86,800,775 (GRCm39) P397Q probably benign Het
Ralgapa2 T C 2: 146,276,765 (GRCm39) S492G possibly damaging Het
Rnf216 A G 5: 143,054,659 (GRCm39) Y630H probably damaging Het
Scyl2 A T 10: 89,481,348 (GRCm39) D666E probably benign Het
Sertad2 A G 11: 20,598,436 (GRCm39) T211A probably benign Het
Sipa1l1 A T 12: 82,487,643 (GRCm39) Q1639L probably benign Het
Snx5 T C 2: 144,101,073 (GRCm39) D98G probably damaging Het
Sorcs2 G T 5: 36,185,332 (GRCm39) probably null Het
Spmip2 T C 3: 79,313,192 (GRCm39) S89P probably damaging Het
Tanc2 G A 11: 105,758,543 (GRCm39) R768Q probably damaging Het
Tmem132d A G 5: 128,346,181 (GRCm39) S114P probably benign Het
Tns2 G A 15: 102,019,846 (GRCm39) G579R probably damaging Het
Usp37 A T 1: 74,517,295 (GRCm39) probably null Het
Vmn1r79 T C 7: 11,910,448 (GRCm39) I110T probably damaging Het
Vps37a C T 8: 40,981,363 (GRCm39) L69F probably damaging Het
Xirp2 T A 2: 67,338,587 (GRCm39) I276N possibly damaging Het
Zfp946 G A 17: 22,673,821 (GRCm39) E192K probably benign Het
Other mutations in Ruvbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Ruvbl1 APN 6 88,461,385 (GRCm39) unclassified probably benign
IGL00473:Ruvbl1 APN 6 88,468,550 (GRCm39) missense probably damaging 1.00
IGL01768:Ruvbl1 APN 6 88,474,253 (GRCm39) missense probably benign
IGL03354:Ruvbl1 APN 6 88,456,197 (GRCm39) nonsense probably null
R0106:Ruvbl1 UTSW 6 88,450,182 (GRCm39) missense probably damaging 1.00
R0106:Ruvbl1 UTSW 6 88,450,182 (GRCm39) missense probably damaging 1.00
R0145:Ruvbl1 UTSW 6 88,461,441 (GRCm39) missense possibly damaging 0.90
R0676:Ruvbl1 UTSW 6 88,450,182 (GRCm39) missense probably damaging 1.00
R1448:Ruvbl1 UTSW 6 88,444,551 (GRCm39) missense probably benign 0.05
R1561:Ruvbl1 UTSW 6 88,456,136 (GRCm39) missense probably damaging 1.00
R1574:Ruvbl1 UTSW 6 88,456,136 (GRCm39) missense probably damaging 1.00
R1623:Ruvbl1 UTSW 6 88,462,752 (GRCm39) missense probably damaging 1.00
R2113:Ruvbl1 UTSW 6 88,460,003 (GRCm39) missense probably damaging 0.99
R2372:Ruvbl1 UTSW 6 88,462,779 (GRCm39) missense possibly damaging 0.53
R2397:Ruvbl1 UTSW 6 88,442,534 (GRCm39) missense possibly damaging 0.71
R2894:Ruvbl1 UTSW 6 88,456,114 (GRCm39) missense possibly damaging 0.87
R4037:Ruvbl1 UTSW 6 88,450,117 (GRCm39) missense probably damaging 1.00
R4604:Ruvbl1 UTSW 6 88,462,887 (GRCm39) missense probably benign
R4684:Ruvbl1 UTSW 6 88,468,581 (GRCm39) missense probably benign 0.00
R4714:Ruvbl1 UTSW 6 88,461,412 (GRCm39) missense possibly damaging 0.61
R4835:Ruvbl1 UTSW 6 88,474,211 (GRCm39) missense possibly damaging 0.69
R4939:Ruvbl1 UTSW 6 88,460,021 (GRCm39) splice site probably null
R5114:Ruvbl1 UTSW 6 88,474,272 (GRCm39) missense probably benign 0.41
R5126:Ruvbl1 UTSW 6 88,462,883 (GRCm39) missense probably benign 0.13
R5296:Ruvbl1 UTSW 6 88,462,890 (GRCm39) missense probably damaging 0.99
R5507:Ruvbl1 UTSW 6 88,444,582 (GRCm39) missense probably benign 0.00
R5559:Ruvbl1 UTSW 6 88,450,078 (GRCm39) missense possibly damaging 0.90
R5819:Ruvbl1 UTSW 6 88,460,097 (GRCm39) splice site probably null
R6155:Ruvbl1 UTSW 6 88,456,107 (GRCm39) critical splice acceptor site probably null
R6564:Ruvbl1 UTSW 6 88,456,208 (GRCm39) missense possibly damaging 0.93
R6704:Ruvbl1 UTSW 6 88,456,187 (GRCm39) missense probably benign 0.06
R7681:Ruvbl1 UTSW 6 88,444,635 (GRCm39) critical splice donor site probably null
R8071:Ruvbl1 UTSW 6 88,450,108 (GRCm39) missense probably damaging 1.00
R9087:Ruvbl1 UTSW 6 88,474,355 (GRCm39) missense probably benign
R9274:Ruvbl1 UTSW 6 88,474,334 (GRCm39) missense probably benign
R9670:Ruvbl1 UTSW 6 88,444,558 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTCCTTCTCTTGGCAGAGGG -3'
(R):5'- CGATTCATCCCCAGAGCTTC -3'

Sequencing Primer
(F):5'- CCTTCTCTTGGCAGAGGGTAGTG -3'
(R):5'- CAGAGCTTCCAGGCAGAGAC -3'
Posted On 2017-07-14