Incidental Mutation 'R2047:Rnf6'
ID 222085
Institutional Source Beutler Lab
Gene Symbol Rnf6
Ensembl Gene ENSMUSG00000029634
Gene Name ring finger protein (C3H2C3 type) 6
Synonyms 5730419H05Rik, 1200013I08Rik
MMRRC Submission 040054-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.778) question?
Stock # R2047 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 146146003-146158267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 146148674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 126 (T126A)
Ref Sequence ENSEMBL: ENSMUSP00000123926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067837] [ENSMUST00000159074] [ENSMUST00000161331] [ENSMUST00000161574] [ENSMUST00000161859] [ENSMUST00000169407]
AlphaFold Q9DBU5
Predicted Effect possibly damaging
Transcript: ENSMUST00000067837
AA Change: T115A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000067559
Gene: ENSMUSG00000029634
AA Change: T115A

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 damaging
Transcript: ENSMUST00000159074
AA Change: T126A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123926
Gene: ENSMUSG00000029634
AA Change: T126A

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
low complexity region 90 106 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161331
AA Change: T115A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125611
Gene: ENSMUSG00000029634
AA Change: T115A

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
low complexity region 79 95 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161574
AA Change: T126A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123730
Gene: ENSMUSG00000029634
AA Change: T126A

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
low complexity region 90 106 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000161859
AA Change: T115A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124293
Gene: ENSMUSG00000029634
AA Change: T115A

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: T84A
SMART Domains Protein: ENSMUSP00000123708
Gene: ENSMUSG00000029634
AA Change: T84A

DomainStartEndE-ValueType
low complexity region 49 65 N/A INTRINSIC
low complexity region 157 185 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000169407
AA Change: T115A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128774
Gene: ENSMUSG00000029634
AA Change: T115A

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
Meta Mutation Damage Score 0.3693 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (57/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik A G 7: 130,747,836 (GRCm39) F52S probably damaging Het
Acot12 T C 13: 91,931,122 (GRCm39) S457P probably damaging Het
Adcy5 G A 16: 35,110,478 (GRCm39) V882M possibly damaging Het
Ahnak A G 19: 8,991,664 (GRCm39) D4316G possibly damaging Het
Aldh1l2 G A 10: 83,342,607 (GRCm39) A401V probably damaging Het
Apol7e A G 15: 77,601,810 (GRCm39) H136R probably benign Het
Arl5a A G 2: 52,302,072 (GRCm39) probably null Het
Asns G T 6: 7,680,093 (GRCm39) A341E probably damaging Het
C7 A G 15: 5,075,143 (GRCm39) L183P probably damaging Het
Cacng2 C T 15: 78,003,037 (GRCm39) A19T probably damaging Het
Ccdc121rt2 A G 5: 112,598,575 (GRCm39) N374S probably benign Het
Ccr4 A G 9: 114,321,633 (GRCm39) F144S probably damaging Het
Ckap2 A G 8: 22,658,763 (GRCm39) V660A probably benign Het
Cramp1 A T 17: 25,222,189 (GRCm39) Y176* probably null Het
Dgki A G 6: 36,890,581 (GRCm39) S922P possibly damaging Het
Drd5 C T 5: 38,477,679 (GRCm39) S224L probably damaging Het
Ei24 T C 9: 36,691,459 (GRCm39) K341E probably benign Het
Eno2 A T 6: 124,744,659 (GRCm39) probably benign Het
Epb41l4a T C 18: 33,961,259 (GRCm39) N425S probably benign Het
F13b T G 1: 139,435,961 (GRCm39) C256G probably damaging Het
Gp6 A T 7: 4,376,270 (GRCm39) probably benign Het
H2-Q7 A T 17: 35,659,123 (GRCm39) R191S probably damaging Het
Ivns1abp T A 1: 151,227,382 (GRCm39) S63R possibly damaging Het
Kcnj16 A G 11: 110,915,946 (GRCm39) probably null Het
Lpcat4 T C 2: 112,075,142 (GRCm39) probably null Het
Lrrc14b T C 13: 74,511,561 (GRCm39) K173R probably benign Het
Maml3 C A 3: 51,597,866 (GRCm39) R939S probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Mrpl46 T A 7: 78,431,312 (GRCm39) Y82F probably damaging Het
Mthfs T A 9: 89,097,356 (GRCm39) I71N probably damaging Het
Nectin4 T C 1: 171,212,720 (GRCm39) V351A possibly damaging Het
Npas3 T C 12: 54,115,612 (GRCm39) F827L probably damaging Het
Nrp1 G A 8: 129,224,577 (GRCm39) probably benign Het
Ocln C A 13: 100,671,632 (GRCm39) A242S probably damaging Het
Or10ad1c T A 15: 98,084,920 (GRCm39) T253S probably damaging Het
Or13g1 G A 7: 85,956,012 (GRCm39) T103I probably damaging Het
Or5d37 A T 2: 87,924,237 (GRCm39) N14K probably benign Het
Pappa T C 4: 65,149,378 (GRCm39) probably benign Het
Ptpn6 T C 6: 124,698,752 (GRCm39) T480A probably benign Het
Pycr1 A T 11: 120,532,512 (GRCm39) D168E possibly damaging Het
Slc25a39 G A 11: 102,296,657 (GRCm39) probably benign Het
Slc35f4 G T 14: 49,541,029 (GRCm39) probably benign Het
Sppl2a C T 2: 126,768,772 (GRCm39) A112T probably damaging Het
Sptbn1 A C 11: 30,088,360 (GRCm39) probably benign Het
Sqle T C 15: 59,197,907 (GRCm39) Y376H probably benign Het
Terb1 A T 8: 105,212,094 (GRCm39) Y296N probably damaging Het
Ttbk2 T C 2: 120,579,397 (GRCm39) H506R probably damaging Het
Ttn T C 2: 76,737,879 (GRCm39) D4220G probably benign Het
Tub A G 7: 108,625,939 (GRCm39) D230G probably benign Het
Ube2d3 T A 3: 135,170,967 (GRCm39) I137K probably benign Het
Vldlr G T 19: 27,212,238 (GRCm39) C84F probably damaging Het
Vmn1r54 A T 6: 90,246,970 (GRCm39) I295F probably damaging Het
Vmn2r56 A G 7: 12,466,918 (GRCm39) S39P probably damaging Het
Zfp358 A G 8: 3,545,934 (GRCm39) H172R probably damaging Het
Zfp619 T C 7: 39,187,062 (GRCm39) C1031R probably damaging Het
Zfp777 A G 6: 48,021,280 (GRCm39) I114T probably benign Het
Other mutations in Rnf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00706:Rnf6 APN 5 146,148,715 (GRCm39) missense possibly damaging 0.86
IGL01432:Rnf6 APN 5 146,152,931 (GRCm39) missense possibly damaging 0.61
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
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
Predicted Primers PCR Primer
(F):5'- CAGAGTTGCAAATGACCCTTG -3'
(R):5'- TGCAGAGCCTGAGTTTAACTC -3'

Sequencing Primer
(F):5'- ATGCTCTCTGTTAACACCTGACAGAG -3'
(R):5'- CAGCACAACTGTCTTCCTTGAATG -3'
Posted On 2014-08-25