Incidental Mutation 'R8903:Rnf14'
ID 678342
Institutional Source Beutler Lab
Gene Symbol Rnf14
Ensembl Gene ENSMUSG00000060450
Gene Name ring finger protein 14
Synonyms 2310075C09Rik, 2610005D23Rik, Triad2, D18Ertd188e, D7Bwg0165e
MMRRC Submission 068760-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.741) question?
Stock # R8903 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 38417590-38450902 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38446267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 357 (K357E)
Ref Sequence ENSEMBL: ENSMUSP00000072212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072376] [ENSMUST00000170811] [ENSMUST00000171461]
AlphaFold Q9JI90
Predicted Effect probably benign
Transcript: ENSMUST00000072376
AA Change: K357E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000072212
Gene: ENSMUSG00000060450
AA Change: K357E

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
AA Change: K231E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000133070
Gene: ENSMUSG00000060450
AA Change: K231E

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 probably benign
Transcript: ENSMUST00000171461
AA Change: K357E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000126205
Gene: ENSMUSG00000060450
AA Change: K357E

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
Meta Mutation Damage Score 0.0721 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 97% (74/76)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,815,526 (GRCm39) F258S probably damaging Het
Abca3 A G 17: 24,602,959 (GRCm39) Y518C probably damaging Het
Ank2 A T 3: 126,840,431 (GRCm39) N274K probably damaging Het
Ankrd31 C T 13: 96,969,329 (GRCm39) L989F probably damaging Het
Ano6 A G 15: 95,825,463 (GRCm39) R354G probably benign Het
Ano8 T C 8: 71,934,834 (GRCm39) probably null Het
Arfgef1 T C 1: 10,211,838 (GRCm39) Y1735C probably damaging Het
B3gnt8 G A 7: 25,328,659 (GRCm39) G363D probably benign Het
Calcrl T C 2: 84,203,729 (GRCm39) probably null Het
Cc2d2b A T 19: 40,797,726 (GRCm39) D782V unknown Het
Ccdc162 A G 10: 41,531,440 (GRCm39) probably null Het
Cdkal1 A T 13: 29,809,918 (GRCm39) *219R probably null Het
Clcnkb A T 4: 141,135,160 (GRCm39) V526D possibly damaging Het
Cnbp A T 6: 87,821,074 (GRCm39) C162S probably damaging Het
Coq2 A G 5: 100,811,656 (GRCm39) probably benign Het
D6Wsu163e T A 6: 126,931,778 (GRCm39) L270Q probably damaging Het
Dennd10 C T 19: 60,823,423 (GRCm39) Q353* probably null Het
Dnhd1 C T 7: 105,362,855 (GRCm39) Q3806* probably null Het
Eepd1 T C 9: 25,394,518 (GRCm39) F261L probably benign Het
Fes C T 7: 80,036,559 (GRCm39) probably benign Het
Fsip2 T A 2: 82,807,681 (GRCm39) D1333E possibly damaging Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gm5113 T C 7: 29,878,292 (GRCm39) F127L probably benign Het
Grk3 A G 5: 113,066,697 (GRCm39) S596P possibly damaging Het
Gsk3a A G 7: 24,936,814 (GRCm39) V91A possibly damaging Het
Gss T C 2: 155,420,279 (GRCm39) K141E probably damaging Het
Il1rl2 A T 1: 40,366,530 (GRCm39) probably null Het
Kcnmb1 A G 11: 33,914,825 (GRCm39) Y42C probably damaging Het
Krtap16-1 A T 11: 99,877,170 (GRCm39) I78N probably damaging Het
Lrp2 C T 2: 69,379,382 (GRCm39) S110N possibly damaging Het
Lrrfip1 T A 1: 91,012,781 (GRCm39) probably benign Het
Magel2 G T 7: 62,029,441 (GRCm39) A782S unknown Het
Map1b C A 13: 99,569,017 (GRCm39) E1235* probably null Het
Mcpt1 A C 14: 56,257,520 (GRCm39) H222P probably benign Het
Met T A 6: 17,549,137 (GRCm39) N996K probably benign Het
Mia C A 7: 26,880,230 (GRCm39) Q52H probably damaging Het
Mia T A 7: 26,880,231 (GRCm39) Q52L possibly damaging Het
Myh7 T A 14: 55,230,228 (GRCm39) K35* probably null Het
Myt1l T A 12: 29,861,468 (GRCm39) D83E unknown Het
Nbl1 A G 4: 138,810,861 (GRCm39) V111A probably damaging Het
Nid1 T A 13: 13,638,515 (GRCm39) V145D probably benign Het
Nif3l1 C T 1: 58,486,653 (GRCm39) probably benign Het
Npnt T C 3: 132,591,764 (GRCm39) Y500C probably damaging Het
Nubpl T A 12: 52,144,676 (GRCm39) probably null Het
Nxpe4 T A 9: 48,310,250 (GRCm39) D504E probably damaging Het
Obsl1 A G 1: 75,463,917 (GRCm39) V1696A possibly damaging Het
Or56a3 A T 7: 104,735,329 (GRCm39) R135S possibly damaging Het
Or8s2 A T 15: 98,276,475 (GRCm39) I172N probably damaging Het
P2rx1 A T 11: 72,900,821 (GRCm39) H224L probably benign Het
Pald1 A T 10: 61,182,815 (GRCm39) probably null Het
Pard6g C T 18: 80,160,411 (GRCm39) R175* probably null Het
Pisd A G 5: 32,895,755 (GRCm39) I271T probably benign Het
Prrt3 T C 6: 113,472,796 (GRCm39) S459G probably damaging Het
Psd3 A T 8: 68,165,945 (GRCm39) C328S unknown Het
Psme1 A G 14: 55,817,853 (GRCm39) E120G Het
Pum3 A T 19: 27,397,457 (GRCm39) M306K possibly damaging Het
Pxdn T C 12: 30,040,992 (GRCm39) F423L probably benign Het
Rac3 A G 11: 120,614,071 (GRCm39) D118G probably damaging Het
Rpl23a T C 11: 78,073,720 (GRCm39) I40V probably benign Het
Slc5a5 A T 8: 71,345,227 (GRCm39) S27T probably damaging Het
Slc7a14 A T 3: 31,277,595 (GRCm39) L670Q probably damaging Het
Snorc C T 1: 87,402,826 (GRCm39) T52I probably damaging Het
Sst T A 16: 23,708,499 (GRCm39) K111* probably null Het
Stxbp4 A G 11: 90,426,267 (GRCm39) S514P unknown Het
Susd1 T A 4: 59,390,576 (GRCm39) T300S probably benign Het
Tecpr1 C T 5: 144,150,845 (GRCm39) probably benign Het
Tmem185b C T 1: 119,454,198 (GRCm39) probably benign Het
Tor2a T A 2: 32,651,699 (GRCm39) F305I probably damaging Het
Ttk T A 9: 83,750,113 (GRCm39) D689E probably damaging Het
Tut4 A T 4: 108,336,408 (GRCm39) D44V probably damaging Het
Usp25 A G 16: 76,878,421 (GRCm39) D615G probably damaging Het
Vmn1r209 A G 13: 22,990,684 (GRCm39) V2A probably benign Het
Vmn2r80 A C 10: 79,017,928 (GRCm39) E551A probably damaging Het
Wac G T 18: 7,926,104 (GRCm39) E636* probably null Het
Wdr53 T A 16: 32,071,130 (GRCm39) D158E probably damaging Het
Zbtb7c T C 18: 76,270,152 (GRCm39) V80A 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
R7070:Rnf14 UTSW 18 38,434,781 (GRCm39) missense possibly damaging 0.66
R7772:Rnf14 UTSW 18 38,442,629 (GRCm39) missense probably damaging 1.00
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'- ATCATAATCATTCCATTGCCCCT -3'
(R):5'- ACCTGTATGGGTGTGCCAC -3'

Sequencing Primer
(F):5'- ATAATCATTCCATTGCCCCTTTTTG -3'
(R):5'- ACAGCAGGGGCAGCTCTTG -3'
Posted On 2021-08-02