Incidental Mutation 'R6485:Ripply1'
ID 517324
Institutional Source Beutler Lab
Gene Symbol Ripply1
Ensembl Gene ENSMUSG00000072945
Gene Name ripply transcriptional repressor 1
Synonyms
MMRRC Submission 044617-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6485 (G1)
Quality Score 134.467
Status Not validated
Chromosome X
Chromosomal Location 138680430-138683102 bp(-) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT to TTCCTCCTCCTCCTCCTCCTCCTCCTCCT at 138680599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000098778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101217]
AlphaFold Q2WG77
Predicted Effect probably benign
Transcript: ENSMUST00000101217
SMART Domains Protein: ENSMUSP00000098778
Gene: ENSMUSG00000072945

DomainStartEndE-ValueType
low complexity region 2 44 N/A INTRINSIC
Pfam:Ripply 59 150 3.1e-36 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit extension of the seventh cervical vertebrae that fuses with the first rib. However, mice are otherwise viable. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 C A 7: 120,026,390 (GRCm39) Y117* probably null Het
Acot5 A T 12: 84,122,258 (GRCm39) R281W probably damaging Het
Adamts20 T C 15: 94,241,852 (GRCm39) T719A probably benign Het
Arhgap33 T C 7: 30,223,429 (GRCm39) T867A probably benign Het
Bcl2a1c T C 9: 114,159,278 (GRCm39) Y19H probably benign Het
Bod1l A G 5: 41,974,459 (GRCm39) I2285T possibly damaging Het
Cacna2d1 A G 5: 16,559,655 (GRCm39) Y755C probably damaging Het
Cdc27 T C 11: 104,396,474 (GRCm39) T816A probably benign Het
Clasrp C A 7: 19,320,294 (GRCm39) probably benign Het
Col6a4 A G 9: 105,954,069 (GRCm39) probably null Het
Cpd T C 11: 76,699,533 (GRCm39) probably null Het
Crispld2 A G 8: 120,756,048 (GRCm39) D339G probably damaging Het
Dst A G 1: 34,333,610 (GRCm39) D7046G probably damaging Het
Erbin G T 13: 104,004,621 (GRCm39) Q136K probably damaging Het
Exph5 G A 9: 53,287,991 (GRCm39) E1691K possibly damaging Het
Fads6 A G 11: 115,176,264 (GRCm39) F187S probably benign Het
Foxg1 A T 12: 49,431,863 (GRCm39) I199F probably damaging Het
Garem1 T C 18: 21,262,894 (GRCm39) D640G probably benign Het
Gba2 A C 4: 43,574,118 (GRCm39) Y112D probably damaging Het
Gcfc2 T C 6: 81,916,528 (GRCm39) I323T probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gria4 T A 9: 4,464,249 (GRCm39) Y571F probably damaging Het
Large2 T C 2: 92,196,373 (GRCm39) T485A probably benign Het
Lonrf1 A G 8: 36,696,288 (GRCm39) probably null Het
Mrgprb5 T C 7: 47,818,525 (GRCm39) N70S probably damaging Het
Muc2 T A 7: 141,300,473 (GRCm39) probably benign Het
Nol4 T C 18: 22,903,850 (GRCm39) D375G probably damaging Het
Or2b2 A G 13: 21,887,600 (GRCm39) Q143R probably benign Het
Pcnt G T 10: 76,225,164 (GRCm39) S1780* probably null Het
Pdgfra A T 5: 75,335,735 (GRCm39) probably null Het
Pgd A T 4: 149,240,876 (GRCm39) probably null Het
Pla2g6 T C 15: 79,191,572 (GRCm39) I279V probably benign Het
Ptpn21 A T 12: 98,665,131 (GRCm39) C297* probably null Het
Rtcb T C 10: 85,793,508 (GRCm39) I22V probably benign Het
Slc25a30 G T 14: 76,012,447 (GRCm39) A67E probably damaging Het
Stk11ip T C 1: 75,506,612 (GRCm39) V605A possibly damaging Het
Ush1c A T 7: 45,858,534 (GRCm39) S585T probably benign Het
Vps13a T C 19: 16,657,414 (GRCm39) D1785G probably damaging Het
Zic5 T A 14: 122,697,052 (GRCm39) Y521F unknown Het
Other mutations in Ripply1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0464:Ripply1 UTSW X 138,680,599 (GRCm39) small deletion probably benign
R5388:Ripply1 UTSW X 138,680,599 (GRCm39) small deletion probably benign
R5397:Ripply1 UTSW X 138,680,599 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- GAGGACACTGGTTTCAATCCAG -3'
(R):5'- TCTGTCCACAGGCTCTACTG -3'

Sequencing Primer
(F):5'- GAGACTCTTTGCGAATCGATGCC -3'
(R):5'- AGGCTCTACTGGCCCAAGTC -3'
Posted On 2018-05-21