Incidental Mutation 'R8992:Rnf24'
ID 684455
Institutional Source Beutler Lab
Gene Symbol Rnf24
Ensembl Gene ENSMUSG00000048911
Gene Name ring finger protein 24
Synonyms C86507, 2810473M14Rik, D2Ertd504e, 4930505A13Rik
MMRRC Submission 068823-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8992 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 131298064-131352892 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131313277 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 10 (F10S)
Ref Sequence ENSEMBL: ENSMUSP00000058630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059372] [ENSMUST00000110194] [ENSMUST00000165420] [ENSMUST00000183902]
AlphaFold Q8BGI1
Predicted Effect possibly damaging
Transcript: ENSMUST00000059372
AA Change: F10S

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000058630
Gene: ENSMUSG00000048911
AA Change: F10S

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
RING 78 118 2.71e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000110194
AA Change: F10S

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105823
Gene: ENSMUSG00000048911
AA Change: F10S

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
RING 78 118 2.71e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000165420
AA Change: F10S

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129843
Gene: ENSMUSG00000048911
AA Change: F10S

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
RING 78 118 2.71e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183902
AA Change: F10S

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139130
Gene: ENSMUSG00000048911
AA Change: F10S

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Meta Mutation Damage Score 0.1172 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd14b A G 9: 106,451,618 D146G probably benign Het
Abhd6 T A 14: 8,028,282 D4E probably benign Het
Atpif1 T C 4: 132,533,374 D34G probably benign Het
Bcr T C 10: 75,131,572 F546S probably damaging Het
Bean1 CT C 8: 104,182,032 probably null Het
Ccdc141 A T 2: 77,014,395 W1443R probably damaging Het
Chd7 A G 4: 8,839,589 D1375G probably damaging Het
Chil1 A T 1: 134,187,924 Q223H probably benign Het
Clcn2 A T 16: 20,712,330 F260I probably damaging Het
Cpq A T 15: 33,594,235 D464V probably benign Het
Crygb T C 1: 65,082,141 D9G probably damaging Het
Cyp2b10 A G 7: 25,925,390 K438E unknown Het
Cyp46a1 A T 12: 108,358,107 D381V possibly damaging Het
Dhx40 A C 11: 86,776,756 probably benign Het
Dnase2b G T 3: 146,586,962 P152Q probably damaging Het
Duox1 A T 2: 122,344,705 H1328L probably damaging Het
Ephb6 C T 6: 41,613,359 A15V probably benign Het
Fam168b A G 1: 34,819,781 F102L probably benign Het
Fam3b T A 16: 97,476,394 D128V probably damaging Het
Galnt11 T G 5: 25,264,985 H527Q possibly damaging Het
Gbp2b A T 3: 142,610,969 R460S probably benign Het
Gm7534 G A 4: 134,202,667 T109I probably damaging Het
Hdhd2 A C 18: 76,970,670 S246R possibly damaging Het
Heatr1 T C 13: 12,401,114 M189T probably damaging Het
Ino80 A G 2: 119,379,578 S1411P possibly damaging Het
Jakmip1 A G 5: 37,117,538 T467A probably benign Het
Kcnh2 A G 5: 24,331,870 S239P probably benign Het
Lct T A 1: 128,300,562 T1065S probably damaging Het
Lrrc66 T C 5: 73,629,884 D41G probably benign Het
Mfsd2b A T 12: 4,871,490 D26E probably benign Het
Myh1 A T 11: 67,205,781 M333L probably benign Het
Neurl4 T C 11: 69,908,132 V855A possibly damaging Het
Nfkb2 T A 19: 46,306,865 V80D probably damaging Het
Nop9 T C 14: 55,745,981 S70P possibly damaging Het
Olfr325 A G 11: 58,580,912 S23G probably benign Het
Pcdhb14 G T 18: 37,449,178 D446Y probably damaging Het
Pclo C T 5: 14,669,311 A1154V unknown Het
Pdgfa G T 5: 138,986,222 Q141K probably damaging Het
Plekhh1 G T 12: 79,075,533 L1133F probably damaging Het
Pole A T 5: 110,323,622 N1411Y possibly damaging Het
Primpol A G 8: 46,581,562 probably benign Het
Psmc5 T G 11: 106,261,961 V203G probably damaging Het
Ptgdr C T 14: 44,858,724 C177Y probably damaging Het
Ptgir A T 7: 16,907,295 I171F probably damaging Het
Ptprg T A 14: 12,154,170 H630Q probably benign Het
Ptrh2 A G 11: 86,690,081 T175A possibly damaging Het
Ralgapb A G 2: 158,454,277 T857A probably damaging Het
Rreb1 C A 13: 37,930,376 S570R probably benign Het
Rttn A G 18: 88,977,708 N205S probably benign Het
Rusc1 T C 3: 89,092,058 E139G probably benign Het
Scn2a A G 2: 65,763,898 N1697S probably damaging Het
Serpinb3a T A 1: 107,047,177 M209L probably damaging Het
Shank3 A G 15: 89,548,685 D1211G possibly damaging Het
Slc22a12 C A 19: 6,542,484 R90L possibly damaging Het
Slc6a13 G A 6: 121,336,942 W548* probably null Het
Srfbp1 T A 18: 52,476,320 L59* probably null Het
Ss18 A T 18: 14,670,323 S73T probably damaging Het
Syne1 T C 10: 5,185,508 K189R probably benign Het
Szt2 G T 4: 118,382,788 probably benign Het
Tbx1 T A 16: 18,584,187 H183L probably damaging Het
Thop1 A G 10: 81,080,138 E385G possibly damaging Het
Tmem168 C A 6: 13,602,850 M172I possibly damaging Het
Tmem67 A G 4: 12,058,559 Y513H probably damaging Het
Top1 A G 2: 160,721,001 D709G probably damaging Het
Tprgl A C 4: 154,158,433 S247A probably damaging Het
Trim46 A G 3: 89,236,385 S602P probably damaging Het
Ttc30a1 A T 2: 75,979,907 C611S probably benign Het
Ttc7b T C 12: 100,500,174 K60E probably benign Het
Ttn G A 2: 76,884,471 S8053F unknown Het
Tyw1 G A 5: 130,269,224 R202Q probably damaging Het
Usp24 T A 4: 106,377,565 H956Q probably benign Het
Vcp T C 4: 42,980,828 T761A probably benign Het
Xpc G A 6: 91,500,974 T309I possibly damaging Het
Zfp560 C T 9: 20,349,599 M129I probably benign Het
Other mutations in Rnf24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Rnf24 APN 2 131305693 missense possibly damaging 0.46
R5888:Rnf24 UTSW 2 131322245 intron probably benign
R7444:Rnf24 UTSW 2 131313295 missense probably damaging 1.00
R7661:Rnf24 UTSW 2 131322215 intron probably benign
R7737:Rnf24 UTSW 2 131303496 missense probably benign
R8086:Rnf24 UTSW 2 131303548 missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- AAAGTGCTAGGCCTCCATGG -3'
(R):5'- TCAGGCATTAGAGAACTTTTGCC -3'

Sequencing Primer
(F):5'- TGGCTTTAGAAAACTGGCCC -3'
(R):5'- GCATTAGAGAACTTTTGCCTCTCAAG -3'
Posted On 2021-10-11