Incidental Mutation 'IGL01866:Rnf6'
ID178518
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 #IGL01866
Quality Score
Status
Chromosome5
Chromosomal Location146209192-146221555 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 146210907 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 434 (R434C)
Ref Sequence ENSEMBL: ENSMUSP00000128774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067837] [ENSMUST00000159074] [ENSMUST00000161331] [ENSMUST00000161574] [ENSMUST00000161859] [ENSMUST00000169407]
Predicted Effect probably damaging
Transcript: ENSMUST00000067837
AA Change: R434C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067559
Gene: ENSMUSG00000029634
AA Change: R434C

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 damaging
Transcript: ENSMUST00000161859
AA Change: R434C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124293
Gene: ENSMUSG00000029634
AA Change: R434C

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 damaging
Transcript: ENSMUST00000169407
AA Change: R434C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128774
Gene: ENSMUSG00000029634
AA Change: R434C

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430007A20Rik T C 4: 144,528,549 Y180H possibly damaging Het
Abi3bp A T 16: 56,671,973 I1361L probably benign Het
Amph A T 13: 19,142,002 D634V probably damaging Het
Ank1 G A 8: 23,093,855 V317I possibly damaging Het
Ap4e1 G A 2: 127,046,910 V460I possibly damaging Het
Arhgap19 A T 19: 41,786,577 H198Q probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cacna1g C T 11: 94,457,111 G717D probably damaging Het
Camkk2 A G 5: 122,763,950 S99P probably damaging Het
Catsperb T A 12: 101,509,311 Y371* probably null Het
Cbl A T 9: 44,153,825 C735* probably null Het
Ccdc146 C A 5: 21,333,054 A91S probably damaging Het
Col1a2 G T 6: 4,524,132 D531Y probably damaging Het
Dscam T A 16: 96,685,350 T1042S probably benign Het
Dtnb A G 12: 3,732,626 Y363C probably benign Het
Ear10 A G 14: 43,923,328 L14P probably damaging Het
Egf A G 3: 129,735,880 S294P probably benign Het
Erbb3 T C 10: 128,569,368 *1340W probably null Het
Fam217b A G 2: 178,420,431 T63A probably benign Het
Fig4 G A 10: 41,232,164 P680L possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm6882 T A 7: 21,427,587 I119F probably damaging Het
Hdac10 C A 15: 89,124,533 G442W probably damaging Het
Mc2r C T 18: 68,407,423 M266I possibly damaging Het
Mep1b A G 18: 21,094,993 Q551R probably benign Het
Mtrf1 T A 14: 79,401,508 C27S probably benign Het
Myo5c T A 9: 75,269,582 M603K probably benign Het
Nuf2 A G 1: 169,498,838 L448P possibly damaging Het
Olfr1535 T C 13: 21,555,173 N283S probably benign Het
Olfr390 A T 11: 73,787,828 I297L probably benign Het
Olfr517 C T 7: 108,868,799 M118I possibly damaging Het
Olfr952 A T 9: 39,426,729 M114K probably damaging Het
Ppp2r5c T C 12: 110,567,827 Y375H probably benign Het
Pstpip2 A G 18: 77,877,625 I317M probably benign Het
Pxdn A G 12: 29,984,571 T208A probably benign Het
Rab3gap1 C T 1: 127,891,080 H116Y probably damaging Het
Rarb T A 14: 16,443,751 D179V probably benign Het
Rasal1 G A 5: 120,675,423 A621T probably damaging Het
Scn10a C A 9: 119,635,502 E1011* probably null Het
Sec24d C T 3: 123,293,595 Q137* probably null Het
Slc35g1 C A 19: 38,403,194 A308E probably damaging Het
Smtnl1 C A 2: 84,818,745 C55F possibly damaging Het
Stt3a A T 9: 36,734,366 D676E probably benign Het
Sytl2 T C 7: 90,381,839 probably benign Het
Trabd2b A G 4: 114,408,920 T44A probably damaging Het
Trim12a T C 7: 104,304,153 probably benign Het
Tti1 A T 2: 158,007,698 D540E probably benign Het
Tubgcp6 A G 15: 89,103,488 V1094A probably benign Het
Vmn1r34 A G 6: 66,637,389 Y122H probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp579 T A 7: 4,994,258 Q218L possibly damaging 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
IGL01722:Rnf6 APN 5 146210226 missense probably benign
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 On2014-05-07