Incidental Mutation 'IGL00706:Rnf6'
ID13845
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? Probably essential (E-score: 0.843) question?
Stock #IGL00706
Quality Score
Status
Chromosome5
Chromosomal Location146209192-146221555 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 146211905 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 112 (D112G)
Ref Sequence ENSEMBL: ENSMUSP00000123926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067837] [ENSMUST00000159074] [ENSMUST00000161331] [ENSMUST00000161574] [ENSMUST00000161859] [ENSMUST00000169407]
Predicted Effect probably benign
Transcript: ENSMUST00000067837
AA Change: D101G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000067559
Gene: ENSMUSG00000029634
AA Change: D101G

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: D112G

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123926
Gene: ENSMUSG00000029634
AA Change: D112G

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: D101G

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125611
Gene: ENSMUSG00000029634
AA Change: D101G

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
low complexity region 79 95 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000161574
AA Change: D112G

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123730
Gene: ENSMUSG00000029634
AA Change: D112G

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: D101G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000124293
Gene: ENSMUSG00000029634
AA Change: D101G

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: D70G
SMART Domains Protein: ENSMUSP00000123708
Gene: ENSMUSG00000029634
AA Change: D70G

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: D101G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000128774
Gene: ENSMUSG00000029634
AA Change: D101G

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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak C A 19: 9,013,730 S4126* probably null Het
Arhgap26 T A 18: 39,286,551 N521K probably damaging Het
Bard1 C T 1: 71,031,426 R633H probably benign Het
Cntn3 C T 6: 102,203,949 V762I probably benign Het
Cyp2e1 T C 7: 140,769,153 I132T probably benign Het
Cyp2t4 T C 7: 27,155,158 I13T probably benign Het
Dhx36 A T 3: 62,496,842 C227S probably damaging Het
Dusp27 T C 1: 166,100,552 E497G probably benign Het
Fetub A G 16: 22,935,696 T138A probably benign Het
Gab3 C T X: 75,005,359 S362N probably benign Het
Gpr158 T C 2: 21,746,773 L501P probably damaging Het
Ifit1bl2 T A 19: 34,618,882 T445S probably benign Het
Kdm5a T A 6: 120,406,636 D779E possibly damaging Het
Ms4a5 C T 19: 11,283,778 V6I probably benign Het
Rgl3 A G 9: 21,977,239 F425S probably damaging Het
Spink12 G A 18: 44,107,805 C86Y probably damaging Het
Wdr3 G A 3: 100,148,100 probably benign Het
Other mutations in Rnf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Rnf6 APN 5 146216121 missense possibly damaging 0.61
IGL01722:Rnf6 APN 5 146210226 missense probably benign
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
R7515:Rnf6 UTSW 5 146211792 missense probably damaging 1.00
R7589:Rnf6 UTSW 5 146211429 missense possibly damaging 0.92
R7767:Rnf6 UTSW 5 146211176 missense probably damaging 0.98
R7767:Rnf6 UTSW 5 146211177 nonsense probably null
R8155:Rnf6 UTSW 5 146211005 missense probably damaging 0.96
R8205:Rnf6 UTSW 5 146210904 missense probably damaging 0.98
Posted On2012-12-06