Incidental Mutation 'R7661:Rnf24'
ID 628305
Institutional Source Beutler Lab
Gene Symbol Rnf24
Ensembl Gene ENSMUSG00000048911
Gene Name ring finger protein 24
Synonyms 2810473M14Rik, D2Ertd504e, 4930505A13Rik, C86507
MMRRC Submission 045736-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7661 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 131139984-131194766 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 131164135 bp (GRCm39)
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

DomainStartEndE-ValueType
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

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

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 96% (50/52)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110018I06Rik A T 12: 107,455,215 (GRCm39) K100N unknown Het
Abi3bp T A 16: 56,453,263 (GRCm39) probably null Het
Akr1c20 T C 13: 4,558,218 (GRCm39) D210G probably benign Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Ascc1 A C 10: 59,885,629 (GRCm39) N227H probably damaging Het
Atp5f1a G T 18: 77,861,802 (GRCm39) A18S possibly damaging Het
Bcl2l13 A G 6: 120,842,558 (GRCm39) T84A possibly damaging Het
Blmh T A 11: 76,877,341 (GRCm39) V419D probably damaging Het
Cacna1d G A 14: 29,769,177 (GRCm39) P1918S probably benign Het
Calr4 T C 4: 109,110,951 (GRCm39) V339A probably benign Het
Capza3 C A 6: 139,987,498 (GRCm39) D32E probably benign Het
Cilk1 G C 9: 78,074,902 (GRCm39) V586L probably benign Het
Cldn20 T A 17: 3,583,133 (GRCm39) M102K possibly damaging Het
Dennd1a T C 2: 37,734,841 (GRCm39) Q479R probably benign Het
Dpp10 A T 1: 123,312,681 (GRCm39) I432N probably damaging Het
Dst T A 1: 34,295,434 (GRCm39) probably null Het
Efcab3 T A 11: 104,617,503 (GRCm39) D741E probably benign Het
Fam135a C T 1: 24,111,843 (GRCm39) probably null Het
Fam47e C T 5: 92,735,384 (GRCm39) L206F probably damaging Het
Focad G A 4: 88,221,772 (GRCm39) R714H unknown Het
Hace1 T G 10: 45,481,649 (GRCm39) V124G probably damaging Het
Ifit1bl2 T A 19: 34,596,428 (GRCm39) Y396F probably damaging Het
Il22ra2 A G 10: 19,497,826 (GRCm39) I13M probably benign Het
Kif21a A G 15: 90,865,122 (GRCm39) F517L possibly damaging Het
Lrrc4 T C 6: 28,829,762 (GRCm39) T618A probably benign Het
Mdn1 A G 4: 32,691,229 (GRCm39) T952A probably benign Het
Mindy3 A T 2: 12,402,328 (GRCm39) I208K probably damaging Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Mycbp2 A G 14: 103,450,059 (GRCm39) I1744T probably damaging Het
Nanog A T 6: 122,690,431 (GRCm39) R279W probably damaging Het
Ncoa2 T A 1: 13,244,761 (GRCm39) T646S probably damaging Het
Ndufa5 A G 6: 24,518,724 (GRCm39) *117R probably null Het
Nudt18 A T 14: 70,817,276 (GRCm39) E293D probably benign Het
Or1e22 A G 11: 73,377,426 (GRCm39) S75P probably damaging Het
Or51aa2 A T 7: 103,187,826 (GRCm39) V205E probably damaging Het
Paip1 C T 13: 119,587,306 (GRCm39) T390I possibly damaging Het
Pigg G A 5: 108,486,485 (GRCm39) V713I probably benign Het
Pih1d2 T C 9: 50,529,558 (GRCm39) probably null Het
Ppp2r3d A G 9: 124,442,696 (GRCm38) F17L Het
Ptprk T C 10: 28,342,036 (GRCm39) I481T probably benign Het
Pygo2 T C 3: 89,338,038 (GRCm39) probably null Het
Raet1d T C 10: 22,248,156 (GRCm39) S225P possibly damaging Het
Ror1 A G 4: 100,298,687 (GRCm39) S687G probably damaging Het
Rsph9 A G 17: 46,446,013 (GRCm39) S186P probably damaging Het
Sash1 C T 10: 8,605,155 (GRCm39) M1078I probably benign Het
Scd4 C A 19: 44,327,510 (GRCm39) D195E probably benign Het
Spopfm3 C T 3: 94,105,709 (GRCm39) T9I probably damaging Het
Syn3 A G 10: 85,904,940 (GRCm39) C348R probably damaging Het
Uspl1 T C 5: 149,151,827 (GRCm39) F1009S probably benign Het
Vmn1r2 T A 4: 3,172,149 (GRCm39) F23I probably benign Het
Vmn1r257 A G 7: 22,391,229 (GRCm39) S172P probably benign Het
Vmn2r-ps158 T A 7: 42,672,582 (GRCm39) N72K probably benign Het
Zfp747l1 A T 7: 126,984,135 (GRCm39) C322* probably null Het
Zfp839 C T 12: 110,835,226 (GRCm39) T827I probably benign 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
R7444:Rnf24 UTSW 2 131,155,215 (GRCm39) missense probably damaging 1.00
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'- CAAGGGGCCTTCTCAACATC -3'
(R):5'- TGATATCCGTTTATGAGAGGAGAGC -3'

Sequencing Primer
(F):5'- GGGCCTTCTCAACATCCTACAGG -3'
(R):5'- CTGAGGGCTTGACAAATGGCTC -3'
Posted On 2020-02-28