Incidental Mutation 'R8554:Rnf214'
ID 660028
Institutional Source Beutler Lab
Gene Symbol Rnf214
Ensembl Gene ENSMUSG00000042790
Gene Name ring finger protein 214
Synonyms D130054N24Rik
MMRRC Submission 068517-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.842) question?
Stock # R8554 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 45774723-45818209 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 45778797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034591] [ENSMUST00000058720] [ENSMUST00000160699] [ENSMUST00000161187] [ENSMUST00000161203] [ENSMUST00000162369] [ENSMUST00000162699] [ENSMUST00000213659]
AlphaFold Q8BFU3
Predicted Effect probably benign
Transcript: ENSMUST00000034591
SMART Domains Protein: ENSMUSP00000034591
Gene: ENSMUSG00000032086

DomainStartEndE-ValueType
low complexity region 27 45 N/A INTRINSIC
Pfam:Asp 74 418 3.1e-46 PFAM
Pfam:TAXi_C 259 417 1.2e-13 PFAM
transmembrane domain 455 477 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000058720
SMART Domains Protein: ENSMUSP00000060941
Gene: ENSMUSG00000042790

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 probably null
Transcript: ENSMUST00000160699
SMART Domains Protein: ENSMUSP00000123754
Gene: ENSMUSG00000042790

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 probably null
Transcript: ENSMUST00000161187
SMART Domains Protein: ENSMUSP00000124296
Gene: ENSMUSG00000042790

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 null
Transcript: ENSMUST00000161203
SMART Domains Protein: ENSMUSP00000123995
Gene: ENSMUSG00000042790

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: V616L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000162699
Predicted Effect probably benign
Transcript: ENSMUST00000213659
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp G A 13: 41,969,636 (GRCm39) T89I possibly damaging Het
Aopep T A 13: 63,444,711 (GRCm39) Y94N possibly damaging Het
Apc T C 18: 34,445,999 (GRCm39) V947A probably damaging Het
Apob A C 12: 8,037,830 (GRCm39) K334N probably damaging Het
Camk2d A T 3: 126,564,448 (GRCm39) Q119L possibly damaging Het
Ccdc60 A T 5: 116,328,171 (GRCm39) F98I probably damaging Het
Cd47 A G 16: 49,688,304 (GRCm39) T22A probably benign Het
Crat A G 2: 30,300,035 (GRCm39) V115A probably benign Het
Csmd3 T C 15: 47,507,538 (GRCm39) M2992V probably benign Het
Dsg4 T A 18: 20,586,100 (GRCm39) N263K probably damaging Het
Eln A C 5: 134,738,964 (GRCm39) probably benign Het
Ep300 A G 15: 81,523,228 (GRCm39) E1284G unknown Het
Fam193a T A 5: 34,633,115 (GRCm39) M122K probably benign Het
Fcgr1 A T 3: 96,199,788 (GRCm39) W40R probably damaging Het
Gm3486 T A 14: 41,209,119 (GRCm39) Q84L probably damaging Het
Golga2 G A 2: 32,183,357 (GRCm39) D80N probably damaging Het
Isg20 T C 7: 78,566,425 (GRCm39) Y125H probably benign Het
Kdf1 A G 4: 133,256,188 (GRCm39) I302V probably damaging Het
Kics2 T A 10: 121,575,960 (GRCm39) I27N probably benign Het
Krt33a T A 11: 99,903,209 (GRCm39) T278S possibly damaging Het
Lrp1b T A 2: 41,234,495 (GRCm39) Q1038L probably benign Het
Marchf6 G A 15: 31,482,976 (GRCm39) H476Y probably damaging Het
Myom1 A G 17: 71,343,448 (GRCm39) E215G possibly damaging Het
Or2aa1 A T 11: 59,480,312 (GRCm39) L201Q possibly damaging Het
Or2h15 T A 17: 38,441,489 (GRCm39) Q198L probably damaging Het
Or4c122 T C 2: 89,079,595 (GRCm39) T148A possibly damaging Het
Pate11 A G 9: 36,387,788 (GRCm39) I25V probably benign Het
Pdlim2 T A 14: 70,408,698 (GRCm39) T173S probably benign Het
Pitpnb T C 5: 111,494,372 (GRCm39) M74T probably benign Het
Pou2f2 C A 7: 24,814,981 (GRCm39) probably benign Het
Rab35 A C 5: 115,783,690 (GRCm39) probably null Het
Rasef A T 4: 73,645,844 (GRCm39) D508E probably benign Het
Rev3l T C 10: 39,682,838 (GRCm39) S319P probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rgl3 A G 9: 21,900,159 (GRCm39) S44P probably benign Het
Rpsa T C 9: 119,958,317 (GRCm39) V76A possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Senp7 T C 16: 55,978,973 (GRCm39) V529A probably benign Het
Siglecg C T 7: 43,058,320 (GRCm39) S69L probably benign Het
Sos1 G T 17: 80,705,842 (GRCm39) T1243K probably damaging Het
Tent5a T C 9: 85,208,784 (GRCm39) D13G possibly damaging Het
Tlcd3a A G 11: 76,096,244 (GRCm39) H124R probably damaging Het
Tmc2 A G 2: 130,106,084 (GRCm39) T872A probably benign Het
Tnfrsf8 A C 4: 145,023,511 (GRCm39) C107W probably damaging Het
Tnn T C 1: 159,937,986 (GRCm39) Y913C probably damaging Het
Ttn T C 2: 76,568,376 (GRCm39) T19179A probably damaging Het
Usp42 T A 5: 143,706,137 (GRCm39) K294N probably damaging Het
Vmn1r123 T A 7: 20,896,971 (GRCm39) C288S probably benign Het
Vmn1r29 T A 6: 58,285,191 (GRCm39) *304K probably null Het
Vmn2r1 T C 3: 63,997,334 (GRCm39) I330T probably damaging Het
Vmn2r16 A G 5: 109,511,997 (GRCm39) I735V probably benign Het
Vmn2r65 T C 7: 84,595,960 (GRCm39) I241M probably benign 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
IGL02739:Rnf214 APN 9 45,780,772 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GAGTCTGAGCAACAGCATGTATC -3'
(R):5'- GTGGATGTTCCCAGGAGAAC -3'

Sequencing Primer
(F):5'- GCCTGCACATAAGCTTGATG -3'
(R):5'- GGAGAACTGACTTTATTCCCTCAAC -3'
Posted On 2021-01-18