Incidental Mutation 'R1169:Rnf17'
ID101557
Institutional Source Beutler Lab
Gene Symbol Rnf17
Ensembl Gene ENSMUSG00000000365
Gene Namering finger protein 17
SynonymsMMIP-2
MMRRC Submission 039242-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.583) question?
Stock #R1169 (G1)
Quality Score225
Status Not validated
Chromosome14
Chromosomal Location56402581-56525032 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 56514165 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 1487 (N1487D)
Ref Sequence ENSEMBL: ENSMUSP00000093469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095793]
Predicted Effect possibly damaging
Transcript: ENSMUST00000095793
AA Change: N1487D

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093469
Gene: ENSMUSG00000000365
AA Change: N1487D

DomainStartEndE-ValueType
Blast:RING 9 72 2e-15 BLAST
low complexity region 398 405 N/A INTRINSIC
Pfam:TUDOR 440 522 8.2e-8 PFAM
TUDOR 750 807 4.32e-12 SMART
low complexity region 824 836 N/A INTRINSIC
Blast:TUDOR 850 882 1e-8 BLAST
low complexity region 959 970 N/A INTRINSIC
TUDOR 984 1042 1.29e-1 SMART
low complexity region 1128 1139 N/A INTRINSIC
TUDOR 1245 1301 7.7e-9 SMART
low complexity region 1416 1430 N/A INTRINSIC
TUDOR 1495 1554 1e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000225737
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null mice display male infertility, azoospermia, arrest of spermatogenesis, and small testis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931423N10Rik A G 2: 23,256,982 K275E possibly damaging Het
Abhd17a T C 10: 80,583,947 E275G probably damaging Het
Adam10 T A 9: 70,746,292 I123N probably damaging Het
Adam8 A T 7: 139,983,929 L715Q probably benign Het
Adcyap1r1 T A 6: 55,494,116 F418L probably damaging Het
Ankrd50 A T 3: 38,454,252 I1322K probably damaging Het
Arid4a G A 12: 71,075,338 S509N probably benign Het
Atxn7 T C 14: 14,095,468 S389P possibly damaging Het
C4b A T 17: 34,742,972 L100Q probably benign Het
Cacul1 G A 19: 60,580,408 A104V probably damaging Het
Camsap3 T C 8: 3,603,866 F512S probably damaging Het
Casp1 T C 9: 5,299,454 V61A possibly damaging Het
Chd1 T A 17: 15,735,732 F531Y probably damaging Het
Clec2h C T 6: 128,674,795 Q156* probably null Het
Clip2 T A 5: 134,492,250 E978V probably benign Het
Cnpy2 T G 10: 128,323,596 L34R probably damaging Het
Cog6 A T 3: 53,013,844 C114S probably benign Het
Col6a3 A T 1: 90,822,014 V366E possibly damaging Het
Col6a5 A G 9: 105,896,974 probably null Het
Dmbt1 G A 7: 131,074,524 probably null Het
Dok1 A G 6: 83,032,048 F218L possibly damaging Het
Dph7 T A 2: 24,966,571 N178K probably benign Het
Enam A T 5: 88,503,258 E800D probably damaging Het
Fads3 A T 19: 10,054,099 Q205L possibly damaging Het
Fbxo44 T C 4: 148,155,976 H265R probably benign Het
Gli1 T A 10: 127,338,451 S24C probably damaging Het
Gm4894 T A 9: 49,274,226 C43* probably null Het
Gpbp1l1 C T 4: 116,574,366 H74Y possibly damaging Het
H2-Eb2 T A 17: 34,333,357 F59I possibly damaging Het
Hspa14 T C 2: 3,498,124 N211S possibly damaging Het
Ifnlr1 T G 4: 135,705,108 F285C probably benign Het
Igf1r G T 7: 68,165,127 V259L probably benign Het
Igf2bp2 A T 16: 22,078,730 Y244* probably null Het
Ighg2c A T 12: 113,285,952 probably benign Het
Ighv8-14 A T 12: 115,808,455 probably null Het
Iqsec2 A G X: 152,144,731 S87G probably benign Het
Itsn2 A G 12: 4,639,694 K589R probably damaging Het
Khdc1a A C 1: 21,350,271 E38D possibly damaging Het
Krt42 T G 11: 100,263,345 probably null Het
Lman1l T C 9: 57,609,995 T369A probably damaging Het
Lpo T C 11: 87,817,317 N183S possibly damaging Het
Lrrc3 T A 10: 77,900,930 Y224F probably damaging Het
Ly6g6f T A 17: 35,083,264 D99V probably damaging Het
Lyplal1 T C 1: 186,114,334 I42V probably benign Het
Mis18bp1 G A 12: 65,143,283 Q793* probably null Het
Myh10 T G 11: 68,762,841 M346R probably damaging Het
Nav1 G T 1: 135,455,205 H1256Q probably damaging Het
Nbea A G 3: 55,968,323 V1642A probably benign Het
Olfr1066 A G 2: 86,455,587 I228T possibly damaging Het
Olfr1104 A G 2: 87,021,717 F276L probably damaging Het
Olfr1428 C T 19: 12,109,489 R19H probably benign Het
Olfr870 T C 9: 20,171,058 N171S probably benign Het
Orm3 G A 4: 63,357,848 V166M probably damaging Het
Oxct1 T A 15: 4,091,226 I264N probably damaging Het
Paox G A 7: 140,126,331 V55I probably benign Het
Pde4d C A 13: 109,950,928 probably null Het
Pnliprp1 A G 19: 58,734,951 N258S probably damaging Het
Prl7b1 C A 13: 27,606,904 R66L possibly damaging Het
Ptpre G T 7: 135,667,612 C261F probably benign Het
Rho C G 6: 115,932,238 N78K probably damaging Het
Ryr3 G A 2: 112,733,014 T2922I probably benign Het
Saxo2 A C 7: 82,635,171 F160V possibly damaging Het
Sbf2 A T 7: 110,310,184 Y1786N probably benign Het
Sdad1 A T 5: 92,298,233 V280E probably benign Het
Sgsm1 T C 5: 113,279,485 D90G probably damaging Het
Siglec1 A T 2: 131,074,827 D1169E probably damaging Het
Sim1 T A 10: 50,981,522 V456E probably benign Het
Skint8 T A 4: 111,928,513 I52N possibly damaging Het
Slc27a1 C A 8: 71,580,653 R280S probably benign Het
Slc9a3 G A 13: 74,150,743 V94I probably damaging Het
Sorcs2 C A 5: 36,027,925 V936L possibly damaging Het
Syce1 A G 7: 140,778,207 F255S probably benign Het
Tmc7 G A 7: 118,551,260 S350L probably benign Het
Tmem200a T A 10: 25,994,348 I8F probably damaging Het
Trip6 T C 5: 137,311,920 H322R probably benign Het
Vmn2r72 A T 7: 85,751,309 N177K probably benign Het
Wdr66 GGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGA 5: 123,254,610 probably benign Het
Other mutations in Rnf17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00586:Rnf17 APN 14 56421082 missense probably damaging 0.99
IGL00717:Rnf17 APN 14 56465750 missense probably benign 0.00
IGL00978:Rnf17 APN 14 56512271 missense probably damaging 1.00
IGL01295:Rnf17 APN 14 56463064 nonsense probably null
IGL01779:Rnf17 APN 14 56462063 missense probably benign 0.06
IGL02132:Rnf17 APN 14 56421166 missense probably benign 0.27
IGL02183:Rnf17 APN 14 56507868 missense probably null 0.99
IGL02387:Rnf17 APN 14 56500587 missense probably damaging 1.00
IGL02422:Rnf17 APN 14 56482135 missense probably damaging 1.00
IGL03081:Rnf17 APN 14 56434371 missense probably benign 0.03
IGL03269:Rnf17 APN 14 56427946 missense possibly damaging 0.74
R0046:Rnf17 UTSW 14 56471373 missense probably damaging 1.00
R0046:Rnf17 UTSW 14 56471373 missense probably damaging 1.00
R0089:Rnf17 UTSW 14 56514106 missense probably damaging 1.00
R0189:Rnf17 UTSW 14 56482193 missense probably null 1.00
R0243:Rnf17 UTSW 14 56482084 missense possibly damaging 0.80
R0245:Rnf17 UTSW 14 56438609 missense probably damaging 0.97
R0486:Rnf17 UTSW 14 56514175 missense probably benign 0.43
R0554:Rnf17 UTSW 14 56522550 missense probably damaging 1.00
R0840:Rnf17 UTSW 14 56475447 missense probably damaging 1.00
R1170:Rnf17 UTSW 14 56425631 missense probably benign 0.10
R1200:Rnf17 UTSW 14 56467706 missense probably benign 0.44
R1464:Rnf17 UTSW 14 56461911 missense probably damaging 1.00
R1464:Rnf17 UTSW 14 56461911 missense probably damaging 1.00
R1472:Rnf17 UTSW 14 56427979 missense probably damaging 1.00
R1512:Rnf17 UTSW 14 56467786 missense probably benign 0.01
R1605:Rnf17 UTSW 14 56493365 missense probably damaging 1.00
R1778:Rnf17 UTSW 14 56522399 missense probably damaging 0.99
R1791:Rnf17 UTSW 14 56504007 nonsense probably null
R2015:Rnf17 UTSW 14 56486969 missense probably benign 0.00
R2023:Rnf17 UTSW 14 56431579 missense possibly damaging 0.59
R2086:Rnf17 UTSW 14 56483380 missense probably damaging 0.98
R2130:Rnf17 UTSW 14 56493354 missense probably damaging 1.00
R2309:Rnf17 UTSW 14 56505982 missense possibly damaging 0.95
R3003:Rnf17 UTSW 14 56500547 missense probably damaging 1.00
R3611:Rnf17 UTSW 14 56467740 missense probably benign 0.43
R3847:Rnf17 UTSW 14 56512296 missense probably damaging 1.00
R3848:Rnf17 UTSW 14 56512296 missense probably damaging 1.00
R3849:Rnf17 UTSW 14 56512296 missense probably damaging 1.00
R3850:Rnf17 UTSW 14 56512296 missense probably damaging 1.00
R3872:Rnf17 UTSW 14 56475413 missense possibly damaging 0.89
R3874:Rnf17 UTSW 14 56475413 missense possibly damaging 0.89
R4021:Rnf17 UTSW 14 56460001 missense probably damaging 0.98
R4022:Rnf17 UTSW 14 56460001 missense probably damaging 0.98
R4790:Rnf17 UTSW 14 56434355 missense probably damaging 1.00
R4951:Rnf17 UTSW 14 56522391 missense probably benign 0.02
R5068:Rnf17 UTSW 14 56505928 missense probably damaging 0.99
R5069:Rnf17 UTSW 14 56505928 missense probably damaging 0.99
R5070:Rnf17 UTSW 14 56505928 missense probably damaging 0.99
R5518:Rnf17 UTSW 14 56482133 missense probably damaging 1.00
R5628:Rnf17 UTSW 14 56486952 splice site probably null
R5712:Rnf17 UTSW 14 56471399 missense probably benign 0.19
R5747:Rnf17 UTSW 14 56465819 critical splice donor site probably null
R5869:Rnf17 UTSW 14 56505988 missense possibly damaging 0.94
R6336:Rnf17 UTSW 14 56421169 unclassified probably null
R6626:Rnf17 UTSW 14 56427924 missense possibly damaging 0.92
R6639:Rnf17 UTSW 14 56438743 missense probably benign 0.01
R6675:Rnf17 UTSW 14 56459975 missense probably damaging 1.00
R6731:Rnf17 UTSW 14 56524350 missense possibly damaging 0.93
R7062:Rnf17 UTSW 14 56465654 missense probably benign 0.00
R7103:Rnf17 UTSW 14 56471306 missense possibly damaging 0.63
Predicted Primers
Posted On2014-01-15