Incidental Mutation 'IGL01722:Rnf6'
ID105155
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf6
Ensembl Gene ENSMUSG00000029634
Gene Namering finger protein (C3H2C3 type) 6
Synonyms5730419H05Rik, 1200013I08Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.621) question?
Stock #IGL01722
Quality Score
Status
Chromosome5
Chromosomal Location146209192-146221555 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 146210226 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 661 (F661L)
Ref Sequence ENSEMBL: ENSMUSP00000128774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067837] [ENSMUST00000159074] [ENSMUST00000161331] [ENSMUST00000161574] [ENSMUST00000161859] [ENSMUST00000169407]
Predicted Effect probably benign
Transcript: ENSMUST00000067837
AA Change: F661L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000067559
Gene: ENSMUSG00000029634
AA Change: F661L

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 probably benign
Transcript: ENSMUST00000159074
SMART Domains Protein: ENSMUSP00000123926
Gene: ENSMUSG00000029634

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
low complexity region 90 106 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161331
SMART Domains Protein: ENSMUSP00000125611
Gene: ENSMUSG00000029634

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
low complexity region 79 95 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161574
SMART Domains Protein: ENSMUSP00000123730
Gene: ENSMUSG00000029634

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
low complexity region 90 106 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161859
AA Change: F661L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124293
Gene: ENSMUSG00000029634
AA Change: F661L

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 probably benign
Transcript: ENSMUST00000162219
SMART Domains Protein: ENSMUSP00000123708
Gene: ENSMUSG00000029634

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: F661L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128774
Gene: ENSMUSG00000029634
AA Change: F661L

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1c T A 2: 58,283,549 probably benign Het
Alb G A 5: 90,470,839 probably null Het
Ankrd9 A G 12: 110,977,363 V46A probably damaging Het
Apol11a A T 15: 77,517,107 M265L probably benign Het
Ccdc158 T C 5: 92,662,739 N97D possibly damaging Het
Cobl T G 11: 12,253,987 H823P probably benign Het
Dnaja2 A T 8: 85,553,279 H90Q probably benign Het
Dpagt1 T C 9: 44,327,602 F73S possibly damaging Het
Dph3 C T 14: 32,085,460 E20K possibly damaging Het
Fam198a G A 9: 121,965,083 S101N possibly damaging Het
Fbxl13 G T 5: 21,490,414 T660K possibly damaging Het
Glt6d1 T C 2: 25,794,419 T192A probably benign Het
Mroh7 C T 4: 106,703,161 V649I probably benign Het
Mta3 T C 17: 83,755,643 Y4H possibly damaging Het
Myh14 A G 7: 44,643,532 L369P probably damaging Het
Olfr1263 T C 2: 90,015,007 C26R probably benign Het
Olfr1385 G T 11: 49,494,966 L144F probably damaging Het
Paxx T C 2: 25,460,265 D110G probably damaging Het
Pcyox1 T G 6: 86,388,753 D493A probably damaging Het
Plk2 A G 13: 110,399,442 E560G probably benign Het
Sema4a T C 3: 88,438,184 K531E probably benign Het
Svs2 T C 2: 164,237,526 K154E possibly damaging Het
Tbx4 A T 11: 85,911,943 Q242L probably damaging Het
Tgm3 A T 2: 130,044,568 I570F probably damaging Het
Thrap3 A T 4: 126,165,529 M908K possibly damaging Het
Trmo A G 4: 46,386,092 probably null Het
Usp8 T A 2: 126,758,152 L997Q probably damaging Het
Vmn1r202 T C 13: 22,501,720 R176G probably benign Het
Vps52 T A 17: 33,961,615 Y308* probably null Het
Other mutations in Rnf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00706:Rnf6 APN 5 146211905 missense possibly damaging 0.86
IGL01432:Rnf6 APN 5 146216121 missense possibly damaging 0.61
IGL01866:Rnf6 APN 5 146210907 missense probably damaging 0.99
R0141:Rnf6 UTSW 5 146211835 missense possibly damaging 0.95
R0551:Rnf6 UTSW 5 146211395 missense possibly damaging 0.65
R0619:Rnf6 UTSW 5 146210721 missense possibly damaging 0.58
R0685:Rnf6 UTSW 5 146211658 missense probably damaging 0.99
R1363:Rnf6 UTSW 5 146211559 missense probably benign
R1387:Rnf6 UTSW 5 146211245 missense probably benign 0.00
R1671:Rnf6 UTSW 5 146211188 nonsense probably null
R2047:Rnf6 UTSW 5 146211864 missense probably damaging 0.99
R2074:Rnf6 UTSW 5 146210906 missense probably damaging 0.98
R2107:Rnf6 UTSW 5 146211281 missense probably damaging 0.99
R2871:Rnf6 UTSW 5 146210405 missense probably benign 0.07
R2871:Rnf6 UTSW 5 146210405 missense probably benign 0.07
R2873:Rnf6 UTSW 5 146210405 missense probably benign 0.07
R2874:Rnf6 UTSW 5 146210405 missense probably benign 0.07
R4361:Rnf6 UTSW 5 146211279 missense probably damaging 1.00
R5421:Rnf6 UTSW 5 146210529 missense probably benign 0.06
R5437:Rnf6 UTSW 5 146210280 missense probably damaging 1.00
R5614:Rnf6 UTSW 5 146218100 splice site probably null
R5848:Rnf6 UTSW 5 146211149 missense probably benign 0.25
Posted On2014-01-21