Incidental Mutation 'R7070:Rnf14'
ID 548871
Institutional Source Beutler Lab
Gene Symbol Rnf14
Ensembl Gene ENSMUSG00000060450
Gene Name ring finger protein 14
Synonyms 2310075C09Rik, 2610005D23Rik, Triad2, D18Ertd188e, D7Bwg0165e
MMRRC Submission 045166-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.771) question?
Stock # R7070 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 38417590-38450902 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38434781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 76 (N76S)
Ref Sequence ENSEMBL: ENSMUSP00000126205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072376] [ENSMUST00000170811] [ENSMUST00000171461]
AlphaFold Q9JI90
Predicted Effect possibly damaging
Transcript: ENSMUST00000072376
AA Change: N76S

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000072212
Gene: ENSMUSG00000060450
AA Change: N76S

DomainStartEndE-ValueType
RWD 11 137 2.36e-32 SMART
low complexity region 169 179 N/A INTRINSIC
RING 221 266 6.51e-2 SMART
IBR 290 351 3.15e-18 SMART
IBR 387 454 2.11e-1 SMART
low complexity region 470 485 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170811
SMART Domains Protein: ENSMUSP00000133070
Gene: ENSMUSG00000060450

DomainStartEndE-ValueType
low complexity region 43 53 N/A INTRINSIC
RING 95 140 6.51e-2 SMART
IBR 164 225 3.15e-18 SMART
IBR 261 328 2.11e-1 SMART
low complexity region 344 359 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000171461
AA Change: N76S

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126205
Gene: ENSMUSG00000060450
AA Change: N76S

DomainStartEndE-ValueType
RWD 11 137 2.36e-32 SMART
low complexity region 169 179 N/A INTRINSIC
RING 221 266 6.51e-2 SMART
IBR 290 351 3.15e-18 SMART
IBR 387 454 2.11e-1 SMART
low complexity region 470 485 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein interacts with androgen receptor (AR) and may function as a coactivator that induces AR target gene expression in prostate. A dominant negative mutant of this gene has been demonstrated to inhibit the AR-mediated growth of prostate cancer. This protein also interacts with class III ubiquitin-conjugating enzymes (E2s) and may act as a ubiquitin-ligase (E3) in the ubiquitination of certain nuclear proteins. Six alternatively spliced transcript variants encoding two distinct isoforms have been reported. [provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik T C 6: 65,930,232 (GRCm39) Y156H probably damaging Het
Abca13 T A 11: 9,240,701 (GRCm39) F855I probably benign Het
Abca2 T G 2: 25,333,007 (GRCm39) F1569V probably benign Het
Adcy8 T A 15: 64,792,404 (GRCm39) N184I probably damaging Het
Akap3 T C 6: 126,850,987 (GRCm39) V835A probably damaging Het
Atg5 T A 10: 44,162,150 (GRCm39) L22H probably damaging Het
Atp13a5 A G 16: 29,152,879 (GRCm39) F196L possibly damaging Het
C1qtnf9 A G 14: 61,017,232 (GRCm39) H254R probably damaging Het
Capza3 C T 6: 139,987,646 (GRCm39) R82C probably damaging Het
Ccdc126 A G 6: 49,316,796 (GRCm39) D92G probably damaging Het
Cdh12 T A 15: 21,583,915 (GRCm39) M585K probably benign Het
Chrnb3 A T 8: 27,883,989 (GRCm39) Y242F probably damaging Het
Cngb3 T C 4: 19,425,593 (GRCm39) V467A possibly damaging Het
Cnot8 A G 11: 58,008,278 (GRCm39) D248G probably benign Het
Cntn1 C T 15: 92,151,917 (GRCm39) T452M probably damaging Het
Cygb C A 11: 116,544,851 (GRCm39) probably benign Het
D930020B18Rik G A 10: 121,477,879 (GRCm39) V35M probably damaging Het
Dcaf17 C T 2: 70,918,857 (GRCm39) T477M probably benign Het
Dpp3 A T 19: 4,968,356 (GRCm39) F239I probably benign Het
Dst T A 1: 34,314,383 (GRCm39) V6442E probably damaging Het
Enpp2 T A 15: 54,762,685 (GRCm39) I188F probably damaging Het
Galnt5 A G 2: 57,888,621 (GRCm39) M74V probably benign Het
Grin2a T C 16: 9,397,288 (GRCm39) D933G possibly damaging Het
Gtf2i T A 5: 134,311,657 (GRCm39) E223D probably damaging Het
H2-M5 C A 17: 37,300,051 (GRCm39) G41V possibly damaging Het
Hars2 C T 18: 36,924,165 (GRCm39) R501* probably null Het
Heatr4 A G 12: 84,016,632 (GRCm39) V545A probably benign Het
Hsd3b3 T A 3: 98,649,787 (GRCm39) T179S possibly damaging Het
Ighv5-6 A G 12: 113,589,429 (GRCm39) V17A probably damaging Het
Jak3 A G 8: 72,137,255 (GRCm39) D772G probably damaging Het
Jakmip2 A T 18: 43,690,393 (GRCm39) probably null Het
Kcnj15 C G 16: 95,096,690 (GRCm39) T104S probably damaging Het
Kndc1 A G 7: 139,501,744 (GRCm39) E927G probably damaging Het
Larp1b G T 3: 40,931,086 (GRCm39) G275C probably damaging Het
Lyst C A 13: 13,932,029 (GRCm39) H3552Q probably benign Het
Mast2 A T 4: 116,168,052 (GRCm39) I960N probably benign Het
Mcee G A 7: 64,050,078 (GRCm39) V70I possibly damaging Het
Muc16 G A 9: 18,557,219 (GRCm39) Q3025* probably null Het
Nrg1 T A 8: 32,339,465 (GRCm39) T45S probably damaging Het
Nutm1 T A 2: 112,079,806 (GRCm39) H703L probably benign Het
Or5m10 G A 2: 85,718,034 (GRCm39) V297I probably benign Het
Or7a38 A T 10: 78,753,102 (GRCm39) I143L probably benign Het
Pbx1 A C 1: 168,023,337 (GRCm39) C273G probably damaging Het
Peg10 ACATCAGGATCC ACATCAGGATCCCCATCAGGATCC 6: 4,756,454 (GRCm39) probably benign Het
Phf1 A G 17: 27,153,307 (GRCm39) T42A possibly damaging Het
Pigm T A 1: 172,205,233 (GRCm39) I323N probably damaging Het
Plcg2 G A 8: 118,323,045 (GRCm39) R700H probably benign Het
Ptx4 G A 17: 25,341,971 (GRCm39) A149T probably benign Het
Rab6a A G 7: 100,279,064 (GRCm39) D68G probably damaging Het
Rcan3 C T 4: 135,143,898 (GRCm39) E185K probably damaging Het
Rpf1 A T 3: 146,217,939 (GRCm39) F192I probably damaging Het
Rps6ka1 T C 4: 133,588,759 (GRCm39) T285A probably benign Het
Rrp8 T C 7: 105,384,083 (GRCm39) K94E possibly damaging Het
Rsbn1 A G 3: 103,836,299 (GRCm39) K122E probably damaging Het
Senp1 T C 15: 97,980,187 (GRCm39) T53A possibly damaging Het
Slc23a1 T G 18: 35,754,834 (GRCm39) D519A probably damaging Het
Slfn14 T G 11: 83,167,531 (GRCm39) R661S probably benign Het
Snta1 T C 2: 154,222,979 (GRCm39) E248G probably benign Het
Son CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG 16: 91,453,729 (GRCm39) probably benign Het
Spmap2l G T 5: 77,195,124 (GRCm39) probably null Het
Stk11ip C T 1: 75,504,259 (GRCm39) H297Y probably benign Het
Synpr T A 14: 13,493,628 (GRCm38) F76I probably damaging Het
Tns2 A G 15: 102,012,968 (GRCm39) R27G possibly damaging Het
Trav5-4 C T 14: 53,941,912 (GRCm39) S95F possibly damaging Het
Ttyh1 T C 7: 4,136,363 (GRCm39) Y330H probably damaging Het
Ugt1a2 T A 1: 88,129,224 (GRCm39) probably null Het
Vmn2r69 T C 7: 85,060,688 (GRCm39) I299V probably damaging Het
Vmn2r90 T A 17: 17,924,313 (GRCm39) D37E probably damaging Het
Other mutations in Rnf14
AlleleSourceChrCoordTypePredicted EffectPPH Score
Aloft UTSW 18 38,441,435 (GRCm39) missense probably damaging 1.00
souffle UTSW 18 38,442,629 (GRCm39) missense probably damaging 1.00
R1682:Rnf14 UTSW 18 38,441,242 (GRCm39) missense probably benign 0.00
R2299:Rnf14 UTSW 18 38,441,138 (GRCm39) missense probably benign 0.03
R4246:Rnf14 UTSW 18 38,434,701 (GRCm39) splice site probably null
R4941:Rnf14 UTSW 18 38,441,435 (GRCm39) missense probably damaging 1.00
R5056:Rnf14 UTSW 18 38,441,441 (GRCm39) missense probably damaging 1.00
R6082:Rnf14 UTSW 18 38,434,723 (GRCm39) missense possibly damaging 0.69
R7772:Rnf14 UTSW 18 38,442,629 (GRCm39) missense probably damaging 1.00
R8903:Rnf14 UTSW 18 38,446,267 (GRCm39) missense probably benign 0.02
R9393:Rnf14 UTSW 18 38,442,680 (GRCm39) missense possibly damaging 0.91
RF014:Rnf14 UTSW 18 38,442,623 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTTTTGTCCCCTTGACTACAG -3'
(R):5'- ATTAGGATTCATGAACACTAGGGG -3'

Sequencing Primer
(F):5'- CCTTGACTACAGCCTCAGGG -3'
(R):5'- TCATGAACACTAGGGGGAAATTTAC -3'
Posted On 2019-05-13