Incidental Mutation 'IGL02739:Rnf214'
ID 305794
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf214
Ensembl Gene ENSMUSG00000042790
Gene Name ring finger protein 214
Synonyms D130054N24Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.842) question?
Stock # IGL02739
Quality Score
Status
Chromosome 9
Chromosomal Location 45774723-45818209 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45780772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 406 (I406V)
Ref Sequence ENSEMBL: ENSMUSP00000149889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058720] [ENSMUST00000160699] [ENSMUST00000161187] [ENSMUST00000161203] [ENSMUST00000162369] [ENSMUST00000213659] [ENSMUST00000162699]
AlphaFold Q8BFU3
Predicted Effect probably benign
Transcript: ENSMUST00000058720
AA Change: I406V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000060941
Gene: ENSMUSG00000042790
AA Change: I406V

DomainStartEndE-ValueType
low complexity region 187 196 N/A INTRINSIC
SCOP:d1eq1a_ 235 382 3e-5 SMART
low complexity region 428 444 N/A INTRINSIC
low complexity region 493 504 N/A INTRINSIC
low complexity region 522 539 N/A INTRINSIC
RING 620 664 3.42e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000100407
Predicted Effect probably benign
Transcript: ENSMUST00000160699
AA Change: I406V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123754
Gene: ENSMUSG00000042790
AA Change: I406V

DomainStartEndE-ValueType
low complexity region 187 196 N/A INTRINSIC
SCOP:d1eq1a_ 235 382 3e-5 SMART
low complexity region 428 444 N/A INTRINSIC
low complexity region 493 504 N/A INTRINSIC
low complexity region 522 539 N/A INTRINSIC
RING 620 664 3.42e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160868
Predicted Effect probably benign
Transcript: ENSMUST00000161187
AA Change: I251V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124296
Gene: ENSMUSG00000042790
AA Change: I251V

DomainStartEndE-ValueType
coiled coil region 65 224 N/A INTRINSIC
low complexity region 273 289 N/A INTRINSIC
low complexity region 338 349 N/A INTRINSIC
low complexity region 367 384 N/A INTRINSIC
RING 465 509 3.42e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161203
AA Change: I251V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123995
Gene: ENSMUSG00000042790
AA Change: I251V

DomainStartEndE-ValueType
SCOP:d1eq1a_ 80 227 2e-5 SMART
low complexity region 273 289 N/A INTRINSIC
low complexity region 338 349 N/A INTRINSIC
low complexity region 367 384 N/A INTRINSIC
RING 500 544 3.42e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162369
AA Change: I406V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000213659
Predicted Effect probably benign
Transcript: ENSMUST00000162699
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(12) : Targeted(3) Gene trapped(9)

Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,026,364 (GRCm39) C887S possibly damaging Het
Adamdec1 C A 14: 68,807,605 (GRCm39) E352* probably null Het
Bglap2 A T 3: 88,285,319 (GRCm39) probably null Het
Bsn A T 9: 107,989,745 (GRCm39) H2002Q probably benign Het
Chtop T A 3: 90,409,557 (GRCm39) Q165L possibly damaging Het
Clcn1 A T 6: 42,263,714 (GRCm39) probably null Het
Ctsr T C 13: 61,309,658 (GRCm39) T184A probably benign Het
Defb36 T C 2: 152,446,439 (GRCm39) L11P unknown Het
Dock8 A G 19: 25,165,852 (GRCm39) E1912G probably damaging Het
Dpp3 A G 19: 4,973,756 (GRCm39) Y106H probably damaging Het
Epas1 A G 17: 87,112,710 (GRCm39) T103A probably damaging Het
Epcam A T 17: 87,947,922 (GRCm39) T131S probably benign Het
Fam169a A G 13: 97,230,563 (GRCm39) probably benign Het
Gh T A 11: 106,192,559 (GRCm39) probably benign Het
Kif20a A T 18: 34,761,996 (GRCm39) K399* probably null Het
Lrp1b A G 2: 41,388,227 (GRCm39) I466T probably damaging Het
Nlk A G 11: 78,465,677 (GRCm39) V409A probably benign Het
Nomo1 A G 7: 45,693,731 (GRCm39) probably null Het
Nr2c1 T A 10: 93,992,834 (GRCm39) M16K probably damaging Het
Nxph2 A T 2: 23,289,912 (GRCm39) Q88L probably benign Het
Or51a39 A G 7: 102,363,521 (GRCm39) I33T possibly damaging Het
Pkdrej T A 15: 85,703,895 (GRCm39) R680S probably benign Het
Pkhd1l1 A T 15: 44,404,346 (GRCm39) N2325I probably benign Het
Pnliprp2 T C 19: 58,748,941 (GRCm39) probably null Het
Ppp1r42 T A 1: 10,039,078 (GRCm39) K347N probably benign Het
Prtg T C 9: 72,758,867 (GRCm39) V407A possibly damaging Het
Psmb8 C A 17: 34,419,728 (GRCm39) S194* probably null Het
Rreb1 C T 13: 38,077,797 (GRCm39) S3L probably damaging Het
Sdad1 C T 5: 92,437,931 (GRCm39) A539T probably benign Het
Sema3a A G 5: 13,501,128 (GRCm39) Y57C probably damaging Het
Susd5 A G 9: 113,925,101 (GRCm39) E328G possibly damaging Het
Syngr3 T C 17: 24,905,372 (GRCm39) T175A probably damaging Het
Tcf20 T A 15: 82,740,281 (GRCm39) Q390L probably damaging Het
Tex15 A G 8: 34,071,721 (GRCm39) T2423A possibly damaging Het
Tlr1 T C 5: 65,084,469 (GRCm39) N36S probably benign Het
Uchl4 C T 9: 64,142,819 (GRCm39) T100M probably damaging Het
Uhrf1 A G 17: 56,612,129 (GRCm39) K11R probably benign Het
Vps13b T A 15: 35,880,046 (GRCm39) D3040E probably damaging Het
Wdr62 A T 7: 29,941,885 (GRCm39) Y640* probably null Het
Zkscan17 T G 11: 59,394,352 (GRCm39) E83A probably damaging Het
Other mutations in Rnf214
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01662:Rnf214 APN 9 45,811,084 (GRCm39) missense probably damaging 1.00
IGL02314:Rnf214 APN 9 45,811,105 (GRCm39) missense probably benign 0.00
IGL02604:Rnf214 APN 9 45,780,841 (GRCm39) missense probably damaging 1.00
Contorted UTSW 9 45,779,344 (GRCm39) nonsense probably null
R0067:Rnf214 UTSW 9 45,778,796 (GRCm39) critical splice donor site probably null
R0067:Rnf214 UTSW 9 45,778,796 (GRCm39) critical splice donor site probably null
R0091:Rnf214 UTSW 9 45,809,791 (GRCm39) critical splice acceptor site probably null
R0375:Rnf214 UTSW 9 45,811,121 (GRCm39) missense probably damaging 0.97
R1027:Rnf214 UTSW 9 45,811,187 (GRCm39) missense probably benign
R1850:Rnf214 UTSW 9 45,780,746 (GRCm39) splice site probably benign
R2424:Rnf214 UTSW 9 45,811,096 (GRCm39) missense probably damaging 0.99
R3751:Rnf214 UTSW 9 45,778,901 (GRCm39) missense probably damaging 1.00
R3772:Rnf214 UTSW 9 45,777,932 (GRCm39) missense possibly damaging 0.83
R4164:Rnf214 UTSW 9 45,783,210 (GRCm39) missense probably damaging 0.99
R4969:Rnf214 UTSW 9 45,807,486 (GRCm39) missense probably damaging 1.00
R5032:Rnf214 UTSW 9 45,811,042 (GRCm39) critical splice donor site probably null
R5647:Rnf214 UTSW 9 45,779,344 (GRCm39) nonsense probably null
R5849:Rnf214 UTSW 9 45,779,386 (GRCm39) missense probably damaging 1.00
R5894:Rnf214 UTSW 9 45,777,916 (GRCm39) missense probably damaging 1.00
R6296:Rnf214 UTSW 9 45,779,119 (GRCm39) missense probably benign 0.05
R6467:Rnf214 UTSW 9 45,778,886 (GRCm39) missense probably damaging 0.97
R6533:Rnf214 UTSW 9 45,811,361 (GRCm39) missense probably benign 0.00
R6621:Rnf214 UTSW 9 45,807,468 (GRCm39) missense probably damaging 1.00
R6801:Rnf214 UTSW 9 45,807,403 (GRCm39) missense probably damaging 1.00
R6940:Rnf214 UTSW 9 45,802,196 (GRCm39) missense probably damaging 0.99
R7398:Rnf214 UTSW 9 45,778,845 (GRCm39) missense possibly damaging 0.85
R8554:Rnf214 UTSW 9 45,778,797 (GRCm39) critical splice donor site probably null
R8710:Rnf214 UTSW 9 45,778,748 (GRCm39) unclassified probably benign
R8962:Rnf214 UTSW 9 45,809,728 (GRCm39) critical splice donor site probably null
R9060:Rnf214 UTSW 9 45,809,772 (GRCm39) utr 3 prime probably benign
R9093:Rnf214 UTSW 9 45,811,054 (GRCm39) missense probably damaging 0.99
R9215:Rnf214 UTSW 9 45,816,129 (GRCm39) missense probably benign 0.12
R9456:Rnf214 UTSW 9 45,779,286 (GRCm39) missense possibly damaging 0.79
R9563:Rnf214 UTSW 9 45,811,141 (GRCm39) missense possibly damaging 0.81
Posted On 2015-04-16