Incidental Mutation 'R5888:Rnf24'
ID 457766
Institutional Source Beutler Lab
Gene Symbol Rnf24
Ensembl Gene ENSMUSG00000048911
Gene Name ring finger protein 24
Synonyms C86507, 2810473M14Rik, D2Ertd504e, 4930505A13Rik
MMRRC Submission 044089-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5888 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 131298064-131352892 bp(-) (GRCm38)
Type of Mutation intron
DNA Base Change (assembly) A to G at 131322245 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059372] [ENSMUST00000110194] [ENSMUST00000183902]
AlphaFold Q8BGI1
Predicted Effect probably benign
Transcript: ENSMUST00000059372
SMART Domains Protein: ENSMUSP00000058630
Gene: ENSMUSG00000048911

transmembrane domain 24 46 N/A INTRINSIC
RING 78 118 2.71e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110194
SMART Domains Protein: ENSMUSP00000105823
Gene: ENSMUSG00000048911

transmembrane domain 24 46 N/A INTRINSIC
RING 78 118 2.71e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142982
Predicted Effect probably benign
Transcript: ENSMUST00000183902
SMART Domains Protein: ENSMUSP00000139130
Gene: ENSMUSG00000048911

transmembrane domain 24 46 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 94% (96/102)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that contains a RING-type zinc finger. The encoded protein may interact with multiple transient receptor potential cation channel subfamily C (TRPC) proteins and regulate the trafficking and insertion of these proteins into the plasma membrane. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029P11Rik T C 15: 81,980,671 (GRCm38) S38P probably benign Het
Adcy1 T A 11: 7,139,095 (GRCm38) V503E possibly damaging Het
Alk C A 17: 71,874,943 (GRCm38) V1362L probably damaging Het
Ankrd55 T A 13: 112,355,919 (GRCm38) I208N possibly damaging Het
Asap2 T A 12: 21,218,190 (GRCm38) I319N probably damaging Het
Atp11b T C 3: 35,837,547 (GRCm38) I1036T probably benign Het
B4gat1 T C 19: 5,039,532 (GRCm38) F186L probably benign Het
C3 T A 17: 57,214,831 (GRCm38) T1079S probably damaging Het
Cacul1 G T 19: 60,537,464 (GRCm38) T287K possibly damaging Het
Cbr3 G C 16: 93,690,726 (GRCm38) G266R probably damaging Het
Cd63 T A 10: 128,912,291 (GRCm38) probably null Het
Chd7 G A 4: 8,866,382 (GRCm38) M851I probably damaging Het
Chst13 T A 6: 90,309,572 (GRCm38) H136L probably benign Het
Cyp2d22 T C 15: 82,373,813 (GRCm38) T179A probably benign Het
Dclre1b A T 3: 103,803,737 (GRCm38) V286E probably damaging Het
Defb45 G A 2: 152,593,234 (GRCm38) probably benign Het
Dlg1 T C 16: 31,791,886 (GRCm38) probably null Het
Dock3 A G 9: 107,023,803 (GRCm38) V321A probably benign Het
Dytn A T 1: 63,677,237 (GRCm38) V59E possibly damaging Het
Eif2ak1 A G 5: 143,886,915 (GRCm38) I393M probably damaging Het
Fam83g A T 11: 61,702,594 (GRCm38) E318V probably benign Het
Fbxo34 T A 14: 47,529,719 (GRCm38) F179I probably damaging Het
Fmo5 T A 3: 97,641,725 (GRCm38) Y230N probably benign Het
Fzd9 T G 5: 135,249,463 (GRCm38) probably null Het
Gata2 T C 6: 88,200,740 (GRCm38) S251P probably benign Het
Gigyf1 A G 5: 137,525,697 (GRCm38) D1043G probably damaging Het
Gm10260 G A 13: 97,760,393 (GRCm38) R66* probably null Het
Gm10322 T A 10: 59,616,303 (GRCm38) S81T probably benign Het
Gm11639 T C 11: 104,721,401 (GRCm38) probably benign Het
Gm15517 A T 7: 44,260,642 (GRCm38) probably benign Het
Haus4 T C 14: 54,544,219 (GRCm38) T232A probably benign Het
Hgfac A T 5: 35,045,407 (GRCm38) H417L probably damaging Het
Iqgap2 T C 13: 95,635,610 (GRCm38) K1354E possibly damaging Het
Kcnk12 C A 17: 87,746,649 (GRCm38) R195L probably benign Het
Kcnn2 A T 18: 45,592,345 (GRCm38) I303F probably damaging Het
Kcnt1 T C 2: 25,908,110 (GRCm38) F879S probably damaging Het
Kndc1 T C 7: 139,895,217 (GRCm38) F11L probably benign Het
Kpna7 A G 5: 144,989,795 (GRCm38) F449S probably damaging Het
Krt77 G T 15: 101,865,453 (GRCm38) N255K probably benign Het
Lair1 A T 7: 4,010,845 (GRCm38) D134E probably damaging Het
Loxhd1 T C 18: 77,402,515 (GRCm38) V1318A probably damaging Het
March10 A T 11: 105,402,146 (GRCm38) V145D possibly damaging Het
Mcpt1 T A 14: 56,019,512 (GRCm38) M169K probably benign Het
Mdc1 T A 17: 35,847,820 (GRCm38) V364E probably benign Het
Mfsd11 T C 11: 116,871,384 (GRCm38) F270S probably damaging Het
Mfsd4b2 T G 10: 39,922,035 (GRCm38) D108A probably benign Het
Mink1 A T 11: 70,610,059 (GRCm38) probably benign Het
Mmp25 T C 17: 23,631,074 (GRCm38) Y504C probably damaging Het
Ms4a13 C T 19: 11,191,506 (GRCm38) V52I probably benign Het
Msh4 C T 3: 153,867,723 (GRCm38) probably null Het
Muc5b T G 7: 141,858,421 (GRCm38) S1701R unknown Het
Naalad2 A T 9: 18,330,641 (GRCm38) S656T probably benign Het
Ncapd2 T C 6: 125,187,089 (GRCm38) Y64C probably damaging Het
Ncapg2 T A 12: 116,425,800 (GRCm38) S347T possibly damaging Het
Nipal4 T C 11: 46,151,339 (GRCm38) T172A probably damaging Het
Nrros T C 16: 32,143,087 (GRCm38) K652R probably benign Het
Nrxn3 G T 12: 89,512,085 (GRCm38) A983S possibly damaging Het
Olfr1084 A C 2: 86,639,144 (GRCm38) L188R probably damaging Het
Olfr1187-ps1 T C 2: 88,540,244 (GRCm38) noncoding transcript Het
Olfr1220 T A 2: 89,097,925 (GRCm38) M1L probably damaging Het
Olfr1249 T A 2: 89,630,799 (GRCm38) Y33F probably damaging Het
Olfr1283 T C 2: 111,368,743 (GRCm38) M37T probably benign Het
Olfr631 A G 7: 103,929,032 (GRCm38) T70A possibly damaging Het
Olfr938 A T 9: 39,077,967 (GRCm38) Y259* probably null Het
P2rx4 T G 5: 122,727,208 (GRCm38) Y299D probably damaging Het
P2rx4 T A 5: 122,719,165 (GRCm38) S155T probably benign Het
Pcsk6 A T 7: 66,043,624 (GRCm38) L7F probably null Het
Pdss2 T C 10: 43,221,797 (GRCm38) silent Het
Pfkl A G 10: 77,991,370 (GRCm38) V494A possibly damaging Het
Prep G T 10: 45,067,364 (GRCm38) D12Y possibly damaging Het
Prg4 A G 1: 150,452,350 (GRCm38) F188S probably damaging Het
Ripor3 T C 2: 167,997,287 (GRCm38) Y98C probably damaging Het
Rnf216 T A 5: 143,068,314 (GRCm38) probably null Het
Scn3a A G 2: 65,497,398 (GRCm38) M916T probably benign Het
Scnm1 T C 3: 95,130,285 (GRCm38) I157V probably benign Het
Sh2b3 C G 5: 121,829,021 (GRCm38) R10P possibly damaging Het
Slc25a27 T C 17: 43,649,694 (GRCm38) D211G probably damaging Het
Slc36a4 A T 9: 15,727,028 (GRCm38) Y250F probably damaging Het
Slc4a1 T A 11: 102,356,525 (GRCm38) E448V probably damaging Het
Slit1 C A 19: 41,743,296 (GRCm38) C38F probably damaging Het
Spock3 T A 8: 63,355,300 (GRCm38) N410K unknown Het
Supt20 G T 3: 54,712,207 (GRCm38) W370L probably benign Het
Tas2r139 T A 6: 42,141,496 (GRCm38) N187K probably damaging Het
Tbc1d9b G A 11: 50,140,484 (GRCm38) V111I probably benign Het
Thsd7b T A 1: 130,210,320 (GRCm38) Y1578* probably null Het
Tln2 T A 9: 67,229,403 (GRCm38) I1267F probably damaging Het
Tnk2 G A 16: 32,671,367 (GRCm38) V363I probably damaging Het
Ttc32 A G 12: 9,035,870 (GRCm38) K139R possibly damaging Het
Vmn1r30 G C 6: 58,435,565 (GRCm38) T94S possibly damaging Het
Vmn1r90 G A 7: 14,561,855 (GRCm38) T106I probably damaging Het
Zfp677 T A 17: 21,398,258 (GRCm38) C526S probably damaging Het
Zfp831 T G 2: 174,643,627 (GRCm38) S32A probably benign Het
Other mutations in Rnf24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Rnf24 APN 2 131,305,693 (GRCm38) missense possibly damaging 0.46
R7444:Rnf24 UTSW 2 131,313,295 (GRCm38) missense probably damaging 1.00
R7661:Rnf24 UTSW 2 131,322,215 (GRCm38) intron probably benign
R7737:Rnf24 UTSW 2 131,303,496 (GRCm38) missense probably benign
R8086:Rnf24 UTSW 2 131,303,548 (GRCm38) missense probably benign 0.23
R8992:Rnf24 UTSW 2 131,313,277 (GRCm38) missense possibly damaging 0.81
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-02-15