Incidental Mutation 'R7444:Rnf24'
ID 577147
Institutional Source Beutler Lab
Gene Symbol Rnf24
Ensembl Gene ENSMUSG00000048911
Gene Name ring finger protein 24
Synonyms 2810473M14Rik, D2Ertd504e, 4930505A13Rik, C86507
MMRRC Submission 045520-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7444 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 131139984-131194766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131155215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 4 (D4G)
Ref Sequence ENSEMBL: ENSMUSP00000058630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059372] [ENSMUST00000110194] [ENSMUST00000165420] [ENSMUST00000183902]
AlphaFold Q8BGI1
Predicted Effect probably damaging
Transcript: ENSMUST00000059372
AA Change: D4G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000058630
Gene: ENSMUSG00000048911
AA Change: D4G

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
RING 78 118 2.71e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110194
AA Change: D4G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105823
Gene: ENSMUSG00000048911
AA Change: D4G

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
RING 78 118 2.71e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000165420
AA Change: D4G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129843
Gene: ENSMUSG00000048911
AA Change: D4G

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
RING 78 118 2.71e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000183902
AA Change: D4G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139130
Gene: ENSMUSG00000048911
AA Change: D4G

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,984,787 (GRCm39) M2024V probably benign Het
Ahnak2 T A 12: 112,745,831 (GRCm39) Q1673L Het
Atic G T 1: 71,602,946 (GRCm39) V107L probably benign Het
B2m A G 2: 121,981,416 (GRCm39) N44D probably damaging Het
Bud13 A G 9: 46,209,799 (GRCm39) D636G probably damaging Het
Cenpk T C 13: 104,386,025 (GRCm39) *307Q probably null Het
Cep68 A G 11: 20,189,438 (GRCm39) S525P probably benign Het
Clca3a1 A G 3: 144,733,193 (GRCm39) L105P probably damaging Het
Cntnap5a A T 1: 116,220,079 (GRCm39) M630L probably benign Het
Cpb2 A G 14: 75,520,782 (GRCm39) Y399C probably damaging Het
Dars2 G T 1: 160,874,454 (GRCm39) P412T possibly damaging Het
E2f8 A T 7: 48,517,927 (GRCm39) I665N probably damaging Het
Epha4 A T 1: 77,364,553 (GRCm39) I652N probably damaging Het
Ermn ACTTCTTCTTCTTCTTCTTCTTC ACTTCTTCTTCTTCTTCTTC 2: 57,938,079 (GRCm39) probably benign Het
Flrt3 T C 2: 140,502,387 (GRCm39) T414A probably benign Het
Fmn1 A T 2: 113,271,956 (GRCm39) Q108L unknown Het
Fosb T C 7: 19,041,199 (GRCm39) D98G possibly damaging Het
Gm5773 T C 3: 93,680,850 (GRCm39) L174S probably damaging Het
Hectd3 T A 4: 116,854,124 (GRCm39) V258E possibly damaging Het
Inf2 T A 12: 112,571,821 (GRCm39) W617R unknown Het
Irf7 T A 7: 140,843,599 (GRCm39) I358F probably damaging Het
Lipo3 A G 19: 33,535,663 (GRCm39) probably null Het
Lrig2 A T 3: 104,404,829 (GRCm39) L93* probably null Het
Lzts1 C T 8: 69,588,331 (GRCm39) V542M probably damaging Het
Mefv T A 16: 3,533,386 (GRCm39) H295L probably benign Het
Naf1 GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC 8: 67,313,200 (GRCm39) probably benign Het
Nat8f6 G C 6: 85,786,112 (GRCm39) S12R probably benign Het
Nipal4 G T 11: 46,057,062 (GRCm39) N14K probably benign Het
Nlrp4c T A 7: 6,095,595 (GRCm39) C824* probably null Het
Npat T C 9: 53,460,210 (GRCm39) S53P probably damaging Het
Nrxn3 A G 12: 89,477,464 (GRCm39) E549G probably damaging Het
Or10a5 T C 7: 106,635,554 (GRCm39) L64P probably damaging Het
Or12e8 T A 2: 87,188,444 (GRCm39) L219I possibly damaging Het
Or1r1 T C 11: 73,874,576 (GRCm39) N286S probably damaging Het
Or4a80 T C 2: 89,583,103 (GRCm39) K23R probably benign Het
Or4f62 A T 2: 111,987,060 (GRCm39) I255F probably damaging Het
Or5p55 T A 7: 107,566,811 (GRCm39) V69E probably damaging Het
Or6c6b T C 10: 129,147,559 (GRCm39) M61T probably benign Het
Or6z6 C A 7: 6,490,919 (GRCm39) W311L probably benign Het
Pcdhb11 T A 18: 37,555,672 (GRCm39) I334K probably damaging Het
Pcdhb4 T C 18: 37,442,505 (GRCm39) L605P probably damaging Het
Pced1a G T 2: 130,263,979 (GRCm39) H224Q probably damaging Het
Pde6b C A 5: 108,575,008 (GRCm39) S623* probably null Het
Pgr T C 9: 8,946,883 (GRCm39) L708P probably damaging Het
Pnpla1 T C 17: 29,097,455 (GRCm39) I207T possibly damaging Het
Prkag3 A T 1: 74,786,425 (GRCm39) D173E probably benign Het
Prrt4 A G 6: 29,176,516 (GRCm39) F270L probably benign Het
Ptdss2 C A 7: 140,732,997 (GRCm39) P260Q possibly damaging Het
Rftn1 T A 17: 50,354,435 (GRCm39) N309I probably damaging Het
Rgs12 T C 5: 35,183,287 (GRCm39) V978A possibly damaging Het
Rnf111 T C 9: 70,348,125 (GRCm39) Y816C probably damaging Het
Rnf208 C T 2: 25,133,326 (GRCm39) P7S probably damaging Het
Ryr2 T A 13: 11,570,349 (GRCm39) I4925L probably benign Het
S1pr5 A T 9: 21,156,378 (GRCm39) V16D possibly damaging Het
Scgb1b24 A G 7: 33,443,566 (GRCm39) D75G possibly damaging Het
Setdb2 A T 14: 59,660,794 (GRCm39) C116* probably null Het
Sh3rf2 G A 18: 42,234,604 (GRCm39) R129Q probably damaging Het
Spata31d1d C T 13: 59,875,007 (GRCm39) V843I probably benign Het
Steap3 A C 1: 120,169,248 (GRCm39) F350V probably benign Het
Tecrl T A 5: 83,502,915 (GRCm39) probably benign Het
Tex15 T A 8: 34,066,590 (GRCm39) S2007T possibly damaging Het
Tomm7 C A 5: 24,049,155 (GRCm39) probably benign Het
Trpv1 A C 11: 73,135,030 (GRCm39) N409T possibly damaging Het
Try5 T A 6: 41,288,299 (GRCm39) Y218F probably benign Het
Tspan5 A T 3: 138,603,883 (GRCm39) I196F possibly damaging Het
Wdhd1 A T 14: 47,489,405 (GRCm39) C709* probably null Het
Other mutations in Rnf24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Rnf24 APN 2 131,147,613 (GRCm39) missense possibly damaging 0.46
R5888:Rnf24 UTSW 2 131,164,165 (GRCm39) intron probably benign
R7661:Rnf24 UTSW 2 131,164,135 (GRCm39) intron probably benign
R7737:Rnf24 UTSW 2 131,145,416 (GRCm39) missense probably benign
R8086:Rnf24 UTSW 2 131,145,468 (GRCm39) missense probably benign 0.23
R8992:Rnf24 UTSW 2 131,155,197 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- AAAGTGCTAGGCCTCCATGG -3'
(R):5'- TCAGGCATTAGAGAACTTTTGCC -3'

Sequencing Primer
(F):5'- TGGCTTTAGAAAACTGGCCC -3'
(R):5'- GCATTAGAGAACTTTTGCCTCTCAAG -3'
Posted On 2019-10-07