Incidental Mutation 'R2397:Ruvbl1'
ID 248549
Institutional Source Beutler Lab
Gene Symbol Ruvbl1
Ensembl Gene ENSMUSG00000030079
Gene Name RuvB-like AAA ATPase 1
Synonyms Pontin52, 2510009G06Rik, Tip49a
MMRRC Submission 040364-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R2397 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 88442391-88474548 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 88442534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 9 (T9P)
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: T9P

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032165
Gene: ENSMUSG00000030079
AA Change: T9P

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 0.1243 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency 98% (41/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T A 8: 56,325,933 (GRCm39) M174L probably benign Het
Adamtsl1 C T 4: 86,117,594 (GRCm39) R186W probably damaging Het
Agtpbp1 C T 13: 59,622,383 (GRCm39) V948I probably benign Het
Atp13a2 A G 4: 140,730,466 (GRCm39) T787A probably benign Het
Capn11 T A 17: 45,964,147 (GRCm39) N139I probably damaging Het
Cars1 T C 7: 143,146,244 (GRCm39) D60G possibly damaging Het
Cers1 A T 8: 70,774,186 (GRCm39) I148F probably benign Het
Col14a1 T C 15: 55,201,835 (GRCm39) I41T unknown Het
Cyp2d26 C T 15: 82,678,236 (GRCm39) G47R probably damaging Het
Dhx36 A T 3: 62,405,518 (GRCm39) M205K probably benign Het
Dyrk2 T A 10: 118,697,273 (GRCm39) probably benign Het
Echs1 T C 7: 139,692,390 (GRCm39) H119R possibly damaging Het
Ehf T A 2: 103,107,164 (GRCm39) D120V probably damaging Het
Esrra A G 19: 6,897,544 (GRCm39) L71P probably damaging Het
Fam228a A T 12: 4,768,718 (GRCm39) S200R probably benign Het
Fibcd1 A T 2: 31,724,435 (GRCm39) M191K probably benign Het
Foxn4 A G 5: 114,393,556 (GRCm39) L521P probably damaging Het
Fscn2 T C 11: 120,252,995 (GRCm39) L154P probably damaging Het
Gm7964 T G 7: 83,406,321 (GRCm39) noncoding transcript Het
Golga3 T C 5: 110,353,743 (GRCm39) probably benign Het
Gria4 A G 9: 4,537,717 (GRCm39) L197P probably damaging Het
Heg1 T A 16: 33,562,849 (GRCm39) M913K probably damaging Het
Ifi205 T C 1: 173,845,141 (GRCm39) T214A possibly damaging Het
Ift140 T G 17: 25,239,710 (GRCm39) D122E probably damaging Het
Jakmip1 T A 5: 37,258,087 (GRCm39) D244E probably damaging Het
Krt84 A G 15: 101,438,689 (GRCm39) V266A probably benign Het
Mc2r T A 18: 68,541,224 (GRCm39) D23V probably benign Het
Ncr1 T A 7: 4,341,260 (GRCm39) F47I probably benign Het
Nr1h3 G A 2: 91,022,202 (GRCm39) T142I possibly damaging Het
Obox2 C T 7: 15,130,971 (GRCm39) P68S probably benign Het
Pacs2 G A 12: 113,026,987 (GRCm39) D605N probably damaging Het
Parn A G 16: 13,384,518 (GRCm39) V515A probably benign Het
Ptdss2 T A 7: 140,727,005 (GRCm39) F105I probably benign Het
Slc15a3 A G 19: 10,820,407 (GRCm39) E8G probably benign Het
Slf1 G T 13: 77,251,702 (GRCm39) Y303* probably null Het
Socs5 T C 17: 87,442,377 (GRCm39) F439S probably damaging Het
Tcp10c C A 17: 13,590,473 (GRCm39) A357E probably damaging Het
Tmem200c T C 17: 69,147,942 (GRCm39) V175A probably damaging Het
Vmn2r124 T A 17: 18,269,859 (GRCm39) H38Q possibly damaging Het
Vmn2r54 T G 7: 12,349,578 (GRCm39) Q668P probably damaging Het
Xrcc2 T C 5: 25,910,708 (GRCm39) S3G probably null 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
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
R6048:Ruvbl1 UTSW 6 88,459,973 (GRCm39) missense possibly damaging 0.90
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'- AGTTACTGGGCGAAACTCAGC -3'
(R):5'- GATCTTAGTGGATCCTGGTCCC -3'

Sequencing Primer
(F):5'- CGTAGCTTTTAGCCAATAGAAAGCG -3'
(R):5'- GATCCTGGTCCCGCCGC -3'
Posted On 2014-11-11