Incidental Mutation 'R7664:Rnf17'
ID 591817
Institutional Source Beutler Lab
Gene Symbol Rnf17
Ensembl Gene ENSMUSG00000000365
Gene Name ring finger protein 17
Synonyms MMIP-2
MMRRC Submission 045704-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.522) question?
Stock # R7664 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 56640107-56762489 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56676335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 399 (I399F)
Ref Sequence ENSEMBL: ENSMUSP00000093469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095793] [ENSMUST00000223627]
AlphaFold Q99MV7
Predicted Effect probably damaging
Transcript: ENSMUST00000095793
AA Change: I399F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093469
Gene: ENSMUSG00000000365
AA Change: I399F

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 damaging
Transcript: ENSMUST00000223627
AA Change: I399F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (83/84)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca C T 11: 84,136,175 (GRCm39) T510I probably damaging Het
Akap12 G T 10: 4,303,748 (GRCm39) W291L probably damaging Het
Akip1 A T 7: 109,308,187 (GRCm39) I152F probably benign Het
Alpk2 T A 18: 65,440,073 (GRCm39) Y440F probably benign Het
Aox3 A G 1: 58,158,698 (GRCm39) T90A probably damaging Het
Arhgef18 A T 8: 3,436,390 (GRCm39) E228V probably damaging Het
B4galnt4 A G 7: 140,647,626 (GRCm39) K405E probably damaging Het
BC034090 T C 1: 155,117,377 (GRCm39) E247G probably damaging Het
Camkk2 A T 5: 122,894,645 (GRCm39) F216I unknown Het
Carm1 A C 9: 21,498,286 (GRCm39) K430T probably benign Het
Ccdc13 A G 9: 121,643,279 (GRCm39) V374A probably benign Het
Cdh26 T A 2: 178,111,835 (GRCm39) M465K probably benign Het
Ceacam10 A T 7: 24,477,757 (GRCm39) M91L probably benign Het
Chrnb1 T C 11: 69,677,850 (GRCm39) T301A possibly damaging Het
Clec4a3 A G 6: 122,943,381 (GRCm39) D101G probably benign Het
Cmss1 G A 16: 57,138,310 (GRCm39) P59S probably benign Het
Crhr1 T A 11: 104,059,968 (GRCm39) F138L probably benign Het
Cxcl5 A T 5: 90,907,890 (GRCm39) I107F probably damaging Het
Cxcr1 A G 1: 74,231,834 (GRCm39) S63P probably damaging Het
Cxcr5 A G 9: 44,424,607 (GRCm39) L350P probably benign Het
D5Ertd579e A T 5: 36,771,961 (GRCm39) H811Q probably benign Het
Ddx46 T G 13: 55,806,864 (GRCm39) I499S probably damaging Het
Ddx51 T G 5: 110,804,785 (GRCm39) probably null Het
Dnaja1 C T 4: 40,724,090 (GRCm39) P84S probably benign Het
Dnajc27 A G 12: 4,153,132 (GRCm39) K203E possibly damaging Het
Fam107b T A 2: 3,571,747 (GRCm39) C24S probably damaging Het
Fancg T C 4: 43,010,066 (GRCm39) K11R probably benign Het
Fnip1 T C 11: 54,356,951 (GRCm39) L44P probably damaging Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
Heca A T 10: 17,778,118 (GRCm39) L493Q probably damaging Het
Hrh2 C T 13: 54,368,875 (GRCm39) P284S probably damaging Het
Ifnar1 C G 16: 91,292,082 (GRCm39) A141G probably damaging Het
Igkv6-32 T A 6: 70,051,282 (GRCm39) T25S probably damaging Het
Inppl1 T C 7: 101,479,304 (GRCm39) H525R probably damaging Het
Itga2b A G 11: 102,351,666 (GRCm39) L553P probably damaging Het
Itgbl1 A G 14: 124,083,962 (GRCm39) Y280C probably damaging Het
Kap T C 6: 133,828,920 (GRCm39) I54V probably benign Het
Kcnh4 G T 11: 100,641,148 (GRCm39) L434M probably damaging Het
Klhl14 T C 18: 21,687,706 (GRCm39) D572G probably damaging Het
Klhl41 T A 2: 69,501,061 (GRCm39) L174Q probably damaging Het
Lrp2 T G 2: 69,337,076 (GRCm39) H1232P probably damaging Het
Lyar A G 5: 38,388,161 (GRCm39) E229G probably benign Het
Mark4 A T 7: 19,177,151 (GRCm39) L226Q probably damaging Het
Mcm8 A G 2: 132,685,453 (GRCm39) K823R probably damaging Het
Mfsd6 A T 1: 52,748,212 (GRCm39) S218T probably benign Het
Mlip A T 9: 77,045,828 (GRCm39) I884N possibly damaging Het
Mmrn1 A G 6: 60,953,689 (GRCm39) T657A probably benign Het
Morc2b A G 17: 33,355,376 (GRCm39) Y799H probably benign Het
Muc16 A T 9: 18,519,018 (GRCm39) I6304N probably benign Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Naaladl2 T C 3: 24,112,303 (GRCm39) Y593C probably damaging Het
Ncor1 T C 11: 62,289,154 (GRCm39) E341G probably damaging Het
Nrg1 G T 8: 32,499,169 (GRCm39) probably null Het
Nudt3 A G 17: 27,842,149 (GRCm39) L4P probably benign Het
Odf2l T A 3: 144,854,345 (GRCm39) H493Q probably benign Het
Ost4 A C 5: 31,065,007 (GRCm39) probably null Het
Patj A T 4: 98,385,187 (GRCm39) Q840L possibly damaging Het
Pcdh20 T A 14: 88,706,803 (GRCm39) T166S probably benign Het
Pcdhb4 T A 18: 37,442,293 (GRCm39) D534E probably damaging Het
Pik3ap1 T C 19: 41,310,069 (GRCm39) D417G possibly damaging Het
Ppwd1 A T 13: 104,356,798 (GRCm39) V239E probably damaging Het
Prdm9 T A 17: 15,775,833 (GRCm39) Y206F probably damaging Het
Ranbp6 A G 19: 29,789,476 (GRCm39) V292A possibly damaging Het
Rgs21 T A 1: 144,416,987 (GRCm39) M22L probably benign Het
Rph3a T A 5: 121,099,339 (GRCm39) Q184L probably benign Het
Scrn3 T C 2: 73,149,714 (GRCm39) Y137H possibly damaging Het
Sec14l4 C A 11: 3,994,178 (GRCm39) Y342* probably null Het
Serpinb11 G A 1: 107,307,718 (GRCm39) G383D probably damaging Het
Sf3b1 A G 1: 55,026,626 (GRCm39) V1261A probably damaging Het
Sh3tc2 C T 18: 62,148,042 (GRCm39) Q1251* probably null Het
Skor1 A T 9: 63,049,045 (GRCm39) D845E probably benign Het
Slc39a7 A G 17: 34,248,551 (GRCm39) L364P probably damaging Het
Snrpn T C 7: 59,637,239 (GRCm39) I26V probably benign Het
Snx5 A T 2: 144,099,924 (GRCm39) probably null Het
Spag9 T C 11: 93,992,986 (GRCm39) probably null Het
Srrm2 T C 17: 24,039,955 (GRCm39) S2200P probably damaging Het
Stx11 T C 10: 12,817,070 (GRCm39) E218G probably damaging Het
Tmem151b T C 17: 45,856,861 (GRCm39) N193S probably damaging Het
Tmem87b A T 2: 128,690,974 (GRCm39) D525V possibly damaging Het
Ubtfl1 A T 9: 18,320,782 (GRCm39) R103S possibly damaging Het
Vmn1r196 T A 13: 22,477,932 (GRCm39) D190E probably damaging Het
Vmn2r67 T A 7: 84,805,019 (GRCm39) D31V probably benign Het
Zbtb22 T A 17: 34,137,553 (GRCm39) M566K probably benign Het
Zfp568 A T 7: 29,721,715 (GRCm39) H220L probably benign Het
Zfp974 A T 7: 27,610,137 (GRCm39) S529R possibly damaging Het
Other mutations in Rnf17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00586:Rnf17 APN 14 56,658,539 (GRCm39) missense probably damaging 0.99
IGL00717:Rnf17 APN 14 56,703,207 (GRCm39) missense probably benign 0.00
IGL00978:Rnf17 APN 14 56,749,728 (GRCm39) missense probably damaging 1.00
IGL01295:Rnf17 APN 14 56,700,521 (GRCm39) nonsense probably null
IGL01779:Rnf17 APN 14 56,699,520 (GRCm39) missense probably benign 0.06
IGL02132:Rnf17 APN 14 56,658,623 (GRCm39) missense probably benign 0.27
IGL02183:Rnf17 APN 14 56,745,325 (GRCm39) missense probably null 0.99
IGL02387:Rnf17 APN 14 56,738,044 (GRCm39) missense probably damaging 1.00
IGL02422:Rnf17 APN 14 56,719,592 (GRCm39) missense probably damaging 1.00
IGL03081:Rnf17 APN 14 56,671,828 (GRCm39) missense probably benign 0.03
IGL03269:Rnf17 APN 14 56,665,403 (GRCm39) missense possibly damaging 0.74
divest UTSW 14 56,661,999 (GRCm39) frame shift probably null
Shed UTSW 14 56,749,753 (GRCm39) missense probably damaging 1.00
R0046:Rnf17 UTSW 14 56,708,830 (GRCm39) missense probably damaging 1.00
R0046:Rnf17 UTSW 14 56,708,830 (GRCm39) missense probably damaging 1.00
R0089:Rnf17 UTSW 14 56,751,563 (GRCm39) missense probably damaging 1.00
R0189:Rnf17 UTSW 14 56,719,650 (GRCm39) missense probably null 1.00
R0243:Rnf17 UTSW 14 56,719,541 (GRCm39) missense possibly damaging 0.80
R0245:Rnf17 UTSW 14 56,676,066 (GRCm39) missense probably damaging 0.97
R0486:Rnf17 UTSW 14 56,751,632 (GRCm39) missense probably benign 0.43
R0554:Rnf17 UTSW 14 56,760,007 (GRCm39) missense probably damaging 1.00
R0840:Rnf17 UTSW 14 56,712,904 (GRCm39) missense probably damaging 1.00
R1169:Rnf17 UTSW 14 56,751,622 (GRCm39) missense possibly damaging 0.89
R1170:Rnf17 UTSW 14 56,663,088 (GRCm39) missense probably benign 0.10
R1200:Rnf17 UTSW 14 56,705,163 (GRCm39) missense probably benign 0.44
R1464:Rnf17 UTSW 14 56,699,368 (GRCm39) missense probably damaging 1.00
R1464:Rnf17 UTSW 14 56,699,368 (GRCm39) missense probably damaging 1.00
R1472:Rnf17 UTSW 14 56,665,436 (GRCm39) missense probably damaging 1.00
R1512:Rnf17 UTSW 14 56,705,243 (GRCm39) missense probably benign 0.01
R1605:Rnf17 UTSW 14 56,730,822 (GRCm39) missense probably damaging 1.00
R1778:Rnf17 UTSW 14 56,759,856 (GRCm39) missense probably damaging 0.99
R1791:Rnf17 UTSW 14 56,741,464 (GRCm39) nonsense probably null
R2015:Rnf17 UTSW 14 56,724,426 (GRCm39) missense probably benign 0.00
R2023:Rnf17 UTSW 14 56,669,036 (GRCm39) missense possibly damaging 0.59
R2086:Rnf17 UTSW 14 56,720,837 (GRCm39) missense probably damaging 0.98
R2130:Rnf17 UTSW 14 56,730,811 (GRCm39) missense probably damaging 1.00
R2309:Rnf17 UTSW 14 56,743,439 (GRCm39) missense possibly damaging 0.95
R3003:Rnf17 UTSW 14 56,738,004 (GRCm39) missense probably damaging 1.00
R3611:Rnf17 UTSW 14 56,705,197 (GRCm39) missense probably benign 0.43
R3847:Rnf17 UTSW 14 56,749,753 (GRCm39) missense probably damaging 1.00
R3848:Rnf17 UTSW 14 56,749,753 (GRCm39) missense probably damaging 1.00
R3849:Rnf17 UTSW 14 56,749,753 (GRCm39) missense probably damaging 1.00
R3850:Rnf17 UTSW 14 56,749,753 (GRCm39) missense probably damaging 1.00
R3872:Rnf17 UTSW 14 56,712,870 (GRCm39) missense possibly damaging 0.89
R3874:Rnf17 UTSW 14 56,712,870 (GRCm39) missense possibly damaging 0.89
R4021:Rnf17 UTSW 14 56,697,458 (GRCm39) missense probably damaging 0.98
R4022:Rnf17 UTSW 14 56,697,458 (GRCm39) missense probably damaging 0.98
R4790:Rnf17 UTSW 14 56,671,812 (GRCm39) missense probably damaging 1.00
R4951:Rnf17 UTSW 14 56,759,848 (GRCm39) missense probably benign 0.02
R5068:Rnf17 UTSW 14 56,743,385 (GRCm39) missense probably damaging 0.99
R5069:Rnf17 UTSW 14 56,743,385 (GRCm39) missense probably damaging 0.99
R5070:Rnf17 UTSW 14 56,743,385 (GRCm39) missense probably damaging 0.99
R5518:Rnf17 UTSW 14 56,719,590 (GRCm39) missense probably damaging 1.00
R5628:Rnf17 UTSW 14 56,724,409 (GRCm39) splice site probably null
R5712:Rnf17 UTSW 14 56,708,856 (GRCm39) missense probably benign 0.19
R5747:Rnf17 UTSW 14 56,703,276 (GRCm39) critical splice donor site probably null
R5869:Rnf17 UTSW 14 56,743,445 (GRCm39) missense possibly damaging 0.94
R6336:Rnf17 UTSW 14 56,658,626 (GRCm39) splice site probably null
R6626:Rnf17 UTSW 14 56,665,381 (GRCm39) missense possibly damaging 0.92
R6639:Rnf17 UTSW 14 56,676,200 (GRCm39) missense probably benign 0.01
R6675:Rnf17 UTSW 14 56,697,432 (GRCm39) missense probably damaging 1.00
R6731:Rnf17 UTSW 14 56,761,807 (GRCm39) missense possibly damaging 0.93
R7062:Rnf17 UTSW 14 56,703,111 (GRCm39) missense probably benign 0.00
R7103:Rnf17 UTSW 14 56,708,763 (GRCm39) missense possibly damaging 0.63
R7144:Rnf17 UTSW 14 56,749,789 (GRCm39) splice site probably null
R7527:Rnf17 UTSW 14 56,753,895 (GRCm39) missense probably damaging 1.00
R7754:Rnf17 UTSW 14 56,699,529 (GRCm39) critical splice donor site probably null
R7772:Rnf17 UTSW 14 56,715,144 (GRCm39) missense probably benign 0.27
R8092:Rnf17 UTSW 14 56,724,479 (GRCm39) missense probably benign 0.00
R8150:Rnf17 UTSW 14 56,658,593 (GRCm39) missense probably benign 0.19
R8203:Rnf17 UTSW 14 56,705,179 (GRCm39) missense probably benign 0.17
R8320:Rnf17 UTSW 14 56,661,999 (GRCm39) frame shift probably null
R8321:Rnf17 UTSW 14 56,661,999 (GRCm39) frame shift probably null
R8379:Rnf17 UTSW 14 56,661,999 (GRCm39) frame shift probably null
R8380:Rnf17 UTSW 14 56,661,999 (GRCm39) frame shift probably null
R8381:Rnf17 UTSW 14 56,661,999 (GRCm39) frame shift probably null
R8382:Rnf17 UTSW 14 56,661,999 (GRCm39) frame shift probably null
R8383:Rnf17 UTSW 14 56,661,999 (GRCm39) frame shift probably null
R8799:Rnf17 UTSW 14 56,737,886 (GRCm39) missense probably damaging 1.00
R8850:Rnf17 UTSW 14 56,722,658 (GRCm39) missense probably damaging 1.00
R9212:Rnf17 UTSW 14 56,761,785 (GRCm39) missense probably damaging 1.00
R9276:Rnf17 UTSW 14 56,719,554 (GRCm39) missense probably damaging 1.00
R9300:Rnf17 UTSW 14 56,697,495 (GRCm39) missense possibly damaging 0.79
R9375:Rnf17 UTSW 14 56,719,579 (GRCm39) missense probably damaging 1.00
R9664:Rnf17 UTSW 14 56,722,636 (GRCm39) missense probably damaging 1.00
Z1177:Rnf17 UTSW 14 56,705,163 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- GTAGATGCTGCTGTCCTGACTG -3'
(R):5'- ACATTATACTGTGAGACCCCTCC -3'

Sequencing Primer
(F):5'- TGTCCTGACTGATGAAACACCTG -3'
(R):5'- ATACTGTGAGACCCCTCCCATCC -3'
Posted On 2019-11-12