Incidental Mutation 'IGL01432:Rnf6'
ID 84169
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf6
Ensembl Gene ENSMUSG00000029634
Gene Name ring finger protein (C3H2C3 type) 6
Synonyms 5730419H05Rik, 1200013I08Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.778) question?
Stock # IGL01432
Quality Score
Status
Chromosome 5
Chromosomal Location 146146003-146158267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 146152931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 95 (S95T)
Ref Sequence ENSEMBL: ENSMUSP00000123926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067837] [ENSMUST00000159074] [ENSMUST00000161331] [ENSMUST00000161574] [ENSMUST00000161859] [ENSMUST00000169407]
AlphaFold Q9DBU5
Predicted Effect probably benign
Transcript: ENSMUST00000067837
AA Change: S84T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000067559
Gene: ENSMUSG00000029634
AA Change: S84T

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
low complexity region 79 95 N/A INTRINSIC
low complexity region 187 215 N/A INTRINSIC
low complexity region 513 530 N/A INTRINSIC
RING 614 654 6.68e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000159074
AA Change: S95T

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123926
Gene: ENSMUSG00000029634
AA Change: S95T

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
low complexity region 90 106 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161331
AA Change: S84T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000125611
Gene: ENSMUSG00000029634
AA Change: S84T

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
low complexity region 79 95 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161574
AA Change: S95T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000123730
Gene: ENSMUSG00000029634
AA Change: S95T

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
low complexity region 90 106 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161725
Predicted Effect probably benign
Transcript: ENSMUST00000161859
AA Change: S84T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000124293
Gene: ENSMUSG00000029634
AA Change: S84T

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
low complexity region 79 95 N/A INTRINSIC
low complexity region 187 215 N/A INTRINSIC
low complexity region 513 530 N/A INTRINSIC
RING 614 654 6.68e-6 SMART
Predicted Effect unknown
Transcript: ENSMUST00000162219
AA Change: S53T
SMART Domains Protein: ENSMUSP00000123708
Gene: ENSMUSG00000029634
AA Change: S53T

DomainStartEndE-ValueType
low complexity region 49 65 N/A INTRINSIC
low complexity region 157 185 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169407
AA Change: S84T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000128774
Gene: ENSMUSG00000029634
AA Change: S84T

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
low complexity region 79 95 N/A INTRINSIC
low complexity region 187 215 N/A INTRINSIC
low complexity region 513 530 N/A INTRINSIC
RING 614 654 6.68e-6 SMART
Coding Region Coverage
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-H2 finger motif. Deletions and mutations in this gene were detected in esophageal squamous cell carcinoma (ESCC), suggesting that this protein may be a potential tumor suppressor. Studies of the mouse counterpart suggested a role of this protein in the transcription regulation that controls germinal differentiation. Multiple alternatively spliced transcript variants encoding the same protein are observed. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh9a1 T C 1: 167,183,354 (GRCm39) S191P probably damaging Het
Aldoart2 A T 12: 55,612,566 (GRCm39) I164F probably damaging Het
Anapc1 C A 2: 128,475,328 (GRCm39) A1384S probably damaging Het
Arid5a T G 1: 36,358,514 (GRCm39) S429A possibly damaging Het
Asxl1 A G 2: 153,242,125 (GRCm39) K892E probably benign Het
Bltp1 T A 3: 37,057,908 (GRCm39) V3166E possibly damaging Het
Bpnt1 G A 1: 185,086,218 (GRCm39) W261* probably null Het
Calu A G 6: 29,356,552 (GRCm39) D26G possibly damaging Het
Ccdc113 C T 8: 96,264,885 (GRCm39) probably benign Het
Cd109 T C 9: 78,605,405 (GRCm39) Y1003H probably benign Het
Cdh9 A G 15: 16,831,033 (GRCm39) K290R probably damaging Het
Cep131 G A 11: 119,967,835 (GRCm39) A140V possibly damaging Het
Cfap251 A G 5: 123,418,015 (GRCm39) I81M possibly damaging Het
Chn1 A T 2: 73,462,096 (GRCm39) C236S probably damaging Het
Cntn4 T A 6: 106,655,295 (GRCm39) probably benign Het
Crispld1 A T 1: 17,817,025 (GRCm39) Q194L probably benign Het
Csmd3 A G 15: 47,596,895 (GRCm39) V1981A probably damaging Het
Cttn A G 7: 144,015,043 (GRCm39) I55T probably damaging Het
Ddx46 G T 13: 55,785,835 (GRCm39) probably benign Het
Diaph1 A T 18: 38,030,557 (GRCm39) I299N unknown Het
Dll1 A G 17: 15,588,768 (GRCm39) Y636H probably damaging Het
Eng A T 2: 32,559,544 (GRCm39) Q111L possibly damaging Het
Exoc6 T C 19: 37,578,324 (GRCm39) V389A possibly damaging Het
Fbxw26 T A 9: 109,547,043 (GRCm39) T461S probably benign Het
Gbf1 T C 19: 46,268,434 (GRCm39) Y1269H probably damaging Het
Gm5852 A G 3: 93,635,086 (GRCm39) Y90H possibly damaging Het
Gnrhr C T 5: 86,330,052 (GRCm39) G323R probably damaging Het
Gpr155 T A 2: 73,182,229 (GRCm39) E661D possibly damaging Het
Grik4 A T 9: 42,432,472 (GRCm39) C842S probably damaging Het
Iws1 A G 18: 32,216,519 (GRCm39) probably benign Het
Kif5c A G 2: 49,591,089 (GRCm39) T314A probably damaging Het
Klhdc1 A C 12: 69,298,751 (GRCm39) K112T probably damaging Het
Kmt2a T C 9: 44,720,393 (GRCm39) T3865A unknown Het
Lgr5 T C 10: 115,288,997 (GRCm39) K477R probably damaging Het
Ly75 A T 2: 60,206,351 (GRCm39) L106Q probably damaging Het
Mcph1 T A 8: 18,675,655 (GRCm39) M26K probably damaging Het
Mettl2 T C 11: 105,017,348 (GRCm39) V9A probably benign Het
Mgat5b A G 11: 116,864,202 (GRCm39) D456G probably benign Het
Mstn A G 1: 53,105,689 (GRCm39) T344A possibly damaging Het
Npr1 T A 3: 90,370,543 (GRCm39) I308F possibly damaging Het
Oasl1 G A 5: 115,075,466 (GRCm39) V509M probably benign Het
Obscn T C 11: 58,924,583 (GRCm39) M5727V probably benign Het
Or2d4 T C 7: 106,543,748 (GRCm39) I153M possibly damaging Het
Or4c114 T A 2: 88,904,545 (GRCm39) I297F probably benign Het
Or4k15c T A 14: 50,321,404 (GRCm39) T245S probably benign Het
Or5an1c A G 19: 12,218,891 (GRCm39) S45P probably damaging Het
Pcgf1 T C 6: 83,055,398 (GRCm39) I11T possibly damaging Het
Phactr3 T C 2: 177,924,893 (GRCm39) V276A probably benign Het
Pla2g6 A T 15: 79,202,168 (GRCm39) M1K probably null Het
Plec T C 15: 76,074,728 (GRCm39) E413G probably damaging Het
Plxna2 G T 1: 194,326,626 (GRCm39) A187S possibly damaging Het
Polq A T 16: 36,892,184 (GRCm39) probably benign Het
Pramel51 T C 12: 88,143,202 (GRCm39) K139E probably benign Het
Prss39 A G 1: 34,541,216 (GRCm39) D240G probably benign Het
Ptpn12 A T 5: 21,203,553 (GRCm39) Y408* probably null Het
Ptprt A G 2: 162,109,999 (GRCm39) probably benign Het
Ryr2 T C 13: 11,866,090 (GRCm39) S287G possibly damaging Het
Samd4b A G 7: 28,113,491 (GRCm39) F158S possibly damaging Het
Slco1a5 T A 6: 142,182,012 (GRCm39) I571L possibly damaging Het
Smchd1 T C 17: 71,738,285 (GRCm39) T527A probably damaging Het
Smg9 T C 7: 24,120,691 (GRCm39) probably null Het
Snx25 A G 8: 46,558,197 (GRCm39) L270P probably damaging Het
Ssh1 G T 5: 114,096,883 (GRCm39) T165N probably benign Het
Stk24 T A 14: 121,540,218 (GRCm39) E127V probably damaging Het
Suco A G 1: 161,661,689 (GRCm39) V914A probably damaging Het
Tbcd T A 11: 121,366,506 (GRCm39) probably benign Het
Tbcel A T 9: 42,355,817 (GRCm39) L114Q possibly damaging Het
Trpm1 A G 7: 63,884,767 (GRCm39) D816G probably benign Het
Uhrf1 G A 17: 56,625,250 (GRCm39) V566M probably damaging Het
Ulk4 T A 9: 121,095,367 (GRCm39) E95D probably damaging Het
Vmn1r40 T C 6: 89,691,201 (GRCm39) M6T probably benign Het
Vmn2r59 C T 7: 41,661,983 (GRCm39) V611I possibly damaging Het
Vwde G T 6: 13,193,239 (GRCm39) H367N probably benign Het
Xpo6 A G 7: 125,723,553 (GRCm39) V585A probably benign Het
Other mutations in Rnf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00706:Rnf6 APN 5 146,148,715 (GRCm39) missense possibly damaging 0.86
IGL01722:Rnf6 APN 5 146,147,036 (GRCm39) missense probably benign
IGL01866:Rnf6 APN 5 146,147,717 (GRCm39) missense probably damaging 0.99
R0141:Rnf6 UTSW 5 146,148,645 (GRCm39) missense possibly damaging 0.95
R0551:Rnf6 UTSW 5 146,148,205 (GRCm39) missense possibly damaging 0.65
R0619:Rnf6 UTSW 5 146,147,531 (GRCm39) missense possibly damaging 0.58
R0685:Rnf6 UTSW 5 146,148,468 (GRCm39) missense probably damaging 0.99
R1363:Rnf6 UTSW 5 146,148,369 (GRCm39) missense probably benign
R1387:Rnf6 UTSW 5 146,148,055 (GRCm39) missense probably benign 0.00
R1671:Rnf6 UTSW 5 146,147,998 (GRCm39) nonsense probably null
R2047:Rnf6 UTSW 5 146,148,674 (GRCm39) missense probably damaging 0.99
R2074:Rnf6 UTSW 5 146,147,716 (GRCm39) missense probably damaging 0.98
R2107:Rnf6 UTSW 5 146,148,091 (GRCm39) missense probably damaging 0.99
R2871:Rnf6 UTSW 5 146,147,215 (GRCm39) missense probably benign 0.07
R2871:Rnf6 UTSW 5 146,147,215 (GRCm39) missense probably benign 0.07
R2873:Rnf6 UTSW 5 146,147,215 (GRCm39) missense probably benign 0.07
R2874:Rnf6 UTSW 5 146,147,215 (GRCm39) missense probably benign 0.07
R4361:Rnf6 UTSW 5 146,148,089 (GRCm39) missense probably damaging 1.00
R5421:Rnf6 UTSW 5 146,147,339 (GRCm39) missense probably benign 0.06
R5437:Rnf6 UTSW 5 146,147,090 (GRCm39) missense probably damaging 1.00
R5614:Rnf6 UTSW 5 146,154,910 (GRCm39) splice site probably null
R5848:Rnf6 UTSW 5 146,147,959 (GRCm39) missense probably benign 0.25
R7515:Rnf6 UTSW 5 146,148,602 (GRCm39) missense probably damaging 1.00
R7589:Rnf6 UTSW 5 146,148,239 (GRCm39) missense possibly damaging 0.92
R7767:Rnf6 UTSW 5 146,147,987 (GRCm39) nonsense probably null
R7767:Rnf6 UTSW 5 146,147,986 (GRCm39) missense probably damaging 0.98
R8155:Rnf6 UTSW 5 146,147,815 (GRCm39) missense probably damaging 0.96
R8205:Rnf6 UTSW 5 146,147,714 (GRCm39) missense probably damaging 0.98
R8302:Rnf6 UTSW 5 146,148,334 (GRCm39) missense probably benign
R8433:Rnf6 UTSW 5 146,148,088 (GRCm39) missense probably damaging 0.96
R9561:Rnf6 UTSW 5 146,147,936 (GRCm39) missense probably benign 0.00
R9732:Rnf6 UTSW 5 146,152,931 (GRCm39) missense probably benign 0.01
Posted On 2013-11-11