Incidental Mutation 'R4969:Rnf214'
ID 384278
Institutional Source Beutler Lab
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 # R4969 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 45774723-45818209 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45807486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 239 (R239H)
Ref Sequence ENSEMBL: ENSMUSP00000149889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058720] [ENSMUST00000160699] [ENSMUST00000160811] [ENSMUST00000161187] [ENSMUST00000162369] [ENSMUST00000161203] [ENSMUST00000162699] [ENSMUST00000213659]
AlphaFold Q8BFU3
Predicted Effect probably damaging
Transcript: ENSMUST00000058720
AA Change: R239H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000060941
Gene: ENSMUSG00000042790
AA Change: R239H

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: ENSMUST00000160325
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160469
Predicted Effect probably damaging
Transcript: ENSMUST00000160699
AA Change: R239H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123754
Gene: ENSMUSG00000042790
AA Change: R239H

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 benign
Transcript: ENSMUST00000160811
Predicted Effect probably damaging
Transcript: ENSMUST00000161187
AA Change: R84H

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124296
Gene: ENSMUSG00000042790
AA Change: R84H

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 damaging
Transcript: ENSMUST00000162369
AA Change: R239H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000161203
AA Change: R84H

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123995
Gene: ENSMUSG00000042790
AA Change: R84H

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: ENSMUST00000162699
Predicted Effect probably benign
Transcript: ENSMUST00000213659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215005
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.2%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A G 7: 45,754,943 (GRCm39) I1525T probably benign Het
Agtpbp1 A G 13: 59,648,392 (GRCm39) V476A probably benign Het
Aipl1 A G 11: 71,922,256 (GRCm39) I151T probably benign Het
Apc C T 18: 34,445,971 (GRCm39) R938* probably null Het
Atp2a2 A G 5: 122,596,554 (GRCm39) F855S possibly damaging Het
Axdnd1 T C 1: 156,223,075 (GRCm39) T261A possibly damaging Het
Cbfa2t2 A G 2: 154,365,900 (GRCm39) D370G probably damaging Het
Cep350 T C 1: 155,736,025 (GRCm39) I2964V probably damaging Het
Clec16a T C 16: 10,386,375 (GRCm39) V158A probably damaging Het
Col6a5 G A 9: 105,741,806 (GRCm39) T2371I probably damaging Het
Cpne8 T C 15: 90,503,929 (GRCm39) T79A probably damaging Het
Cyp2b13 A G 7: 25,780,413 (GRCm39) R145G probably damaging Het
Disc1 G A 8: 125,851,289 (GRCm39) W391* probably null Het
Dnah8 G A 17: 30,941,988 (GRCm39) V1745I probably damaging Het
Dsp T C 13: 38,376,886 (GRCm39) V1557A probably benign Het
Egfem1 T A 3: 29,637,145 (GRCm39) Y194N probably damaging Het
Eif4a3 A G 11: 119,179,705 (GRCm39) Y361H probably damaging Het
Esd T A 14: 74,982,153 (GRCm39) S189R possibly damaging Het
Fancf A T 7: 51,511,196 (GRCm39) Y269* probably null Het
Fbln2 A T 6: 91,248,569 (GRCm39) H1078L possibly damaging Het
Fbxw13 A G 9: 109,010,592 (GRCm39) probably null Het
Fcgr2b A T 1: 170,790,941 (GRCm39) V284D probably benign Het
Fuz G A 7: 44,549,718 (GRCm39) G363R probably damaging Het
Gas7 A G 11: 67,574,234 (GRCm39) E403G probably damaging Het
Gnl1 A G 17: 36,291,581 (GRCm39) D49G possibly damaging Het
Gucy2g A G 19: 55,214,445 (GRCm39) V561A probably benign Het
H1f7 A T 15: 98,154,216 (GRCm39) V311E unknown Het
Hebp2 T C 10: 18,420,122 (GRCm39) T104A probably benign Het
Ighv1-19 T A 12: 114,672,377 (GRCm39) Q80L probably benign Het
Kctd19 T A 8: 106,122,959 (GRCm39) probably null Het
Kdm3b T C 18: 34,955,428 (GRCm39) L905P probably damaging Het
Klkb1 T C 8: 45,735,814 (GRCm39) D183G probably benign Het
Krt6b T C 15: 101,588,460 (GRCm39) R67G possibly damaging Het
Krt75 T C 15: 101,482,248 (GRCm39) I7V probably benign Het
Lpo A T 11: 87,697,751 (GRCm39) N685K probably benign Het
Mroh7 A T 4: 106,538,070 (GRCm39) I1202N probably benign Het
Muc4 T A 16: 32,754,572 (GRCm38) M1482K probably benign Het
Mylk T A 16: 34,791,810 (GRCm39) V1494E probably damaging Het
Neurl4 A G 11: 69,801,913 (GRCm39) D17G probably damaging Het
Nkx6-3 A G 8: 23,647,725 (GRCm39) Y228C probably damaging Het
Nprl2 G A 9: 107,420,273 (GRCm39) probably null Het
Nxf1 A G 19: 8,739,669 (GRCm39) probably null Het
Or4a39 A G 2: 89,236,770 (GRCm39) F218L probably benign Het
Or52u1 A T 7: 104,237,730 (GRCm39) N240Y probably damaging Het
Pde3b A G 7: 114,118,847 (GRCm39) E662G possibly damaging Het
Plekhm3 G A 1: 64,977,078 (GRCm39) R131C probably damaging Het
Plpp7 T C 2: 31,985,950 (GRCm39) S43P probably benign Het
Pramel5 A G 4: 143,998,187 (GRCm39) L352P probably damaging Het
Prepl T C 17: 85,395,902 (GRCm39) S27G probably benign Het
Ptprd A G 4: 76,051,542 (GRCm39) I227T probably damaging Het
Pttg1ip C T 10: 77,419,854 (GRCm39) Q6* probably null Het
Rgl1 C T 1: 152,424,813 (GRCm39) probably null Het
Riiad1 C A 3: 94,380,173 (GRCm39) G41* probably null Het
Rpap3 C T 15: 97,584,407 (GRCm39) V346I probably benign Het
Scaf4 G A 16: 90,048,831 (GRCm39) Q328* probably null Het
Sec23a A G 12: 59,051,274 (GRCm39) probably null Het
Slc5a8 T A 10: 88,740,774 (GRCm39) probably null Het
Slc9a8 A G 2: 167,288,449 (GRCm39) T183A probably benign Het
Sod3 A T 5: 52,525,736 (GRCm39) H145L probably damaging Het
Sp4 A G 12: 118,263,341 (GRCm39) V235A probably damaging Het
Spp1 A C 5: 104,588,153 (GRCm39) E185A possibly damaging Het
Susd1 A T 4: 59,351,679 (GRCm39) W461R probably benign Het
Svil A C 18: 5,095,516 (GRCm39) K1124Q probably damaging Het
Tdrd12 A T 7: 35,186,720 (GRCm39) probably null Het
Terb1 A T 8: 105,221,795 (GRCm39) N168K probably benign Het
Tnnt1 A G 7: 4,510,573 (GRCm39) L216P probably damaging Het
Ttc28 A G 5: 111,424,121 (GRCm39) K1463E probably damaging Het
Twf2 T G 9: 106,089,098 (GRCm39) probably null Het
Urb1 C T 16: 90,602,299 (GRCm39) R90Q probably damaging Het
Wdr45b A T 11: 121,219,650 (GRCm39) C299* probably null Het
Wrap73 A G 4: 154,237,138 (GRCm39) S54G probably damaging Het
Zeb2 T C 2: 44,888,931 (GRCm39) K323R probably damaging Het
Zfp410 T C 12: 84,378,582 (GRCm39) I302T possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- AACACAATACTTATCTGAGTTGCC -3'
(R):5'- AAATGCTTGTGCGTGCTTCAG -3'

Sequencing Primer
(F):5'- ATCGAACCCAGGTTTCTGAG -3'
(R):5'- GGTTGATAGAACACTTGCCATCGC -3'
Posted On 2016-04-27