Incidental Mutation 'IGL02724:Rnf215'
ID305084
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf215
Ensembl Gene ENSMUSG00000003581
Gene Namering finger protein 215
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL02724
Quality Score
Status
Chromosome11
Chromosomal Location4135202-4141172 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 4140305 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 341 (R341L)
Ref Sequence ENSEMBL: ENSMUSP00000003677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003677] [ENSMUST00000093381] [ENSMUST00000101626] [ENSMUST00000124670] [ENSMUST00000145705]
Predicted Effect probably damaging
Transcript: ENSMUST00000003677
AA Change: R341L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003677
Gene: ENSMUSG00000003581
AA Change: R341L

DomainStartEndE-ValueType
signal peptide 1 45 N/A INTRINSIC
low complexity region 82 97 N/A INTRINSIC
low complexity region 149 162 N/A INTRINSIC
low complexity region 274 285 N/A INTRINSIC
RING 327 367 6.89e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093381
SMART Domains Protein: ENSMUSP00000091074
Gene: ENSMUSG00000051427

DomainStartEndE-ValueType
low complexity region 76 88 N/A INTRINSIC
low complexity region 321 343 N/A INTRINSIC
low complexity region 385 414 N/A INTRINSIC
SCOP:d1fxkc_ 452 595 4e-5 SMART
low complexity region 639 659 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101626
SMART Domains Protein: ENSMUSP00000099148
Gene: ENSMUSG00000051427

DomainStartEndE-ValueType
low complexity region 219 241 N/A INTRINSIC
low complexity region 283 312 N/A INTRINSIC
SCOP:d1fxkc_ 350 493 3e-4 SMART
low complexity region 537 557 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124670
SMART Domains Protein: ENSMUSP00000114532
Gene: ENSMUSG00000003581

DomainStartEndE-ValueType
signal peptide 1 42 N/A INTRINSIC
low complexity region 87 111 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137060
Predicted Effect probably benign
Transcript: ENSMUST00000145705
SMART Domains Protein: ENSMUSP00000117540
Gene: ENSMUSG00000003581

DomainStartEndE-ValueType
signal peptide 1 45 N/A INTRINSIC
low complexity region 82 97 N/A INTRINSIC
low complexity region 149 162 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175339
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T G 2: 93,845,776 K85Q probably damaging Het
Acmsd A T 1: 127,749,085 T116S possibly damaging Het
Agrn T A 4: 156,172,807 K1189* probably null Het
Alk T C 17: 71,985,460 R508G probably benign Het
Arhgap23 T A 11: 97,491,179 Y1123N probably damaging Het
Arl6ip5 G T 6: 97,232,404 M133I probably benign Het
Axin2 G A 11: 108,942,946 G573D possibly damaging Het
B4galt2 A G 4: 117,876,878 probably null Het
Baz2b G T 2: 59,977,374 D180E possibly damaging Het
Btnl6 G T 17: 34,508,175 Y460* probably null Het
C530008M17Rik T C 5: 76,858,459 V889A unknown Het
Cct7 A T 6: 85,459,149 D14V probably damaging Het
Cd55 T A 1: 130,449,412 probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdh2 C T 18: 16,629,480 R526Q probably benign Het
Chil1 A C 1: 134,189,243 E315A probably damaging Het
Cmya5 A G 13: 93,096,655 S642P probably benign Het
Cpm C A 10: 117,629,851 T43K probably damaging Het
Cyp8b1 A T 9: 121,915,387 V293D probably benign Het
Dock1 T G 7: 135,163,353 D1691E probably benign Het
Fasn T C 11: 120,809,833 D2120G probably benign Het
Gal3st4 T C 5: 138,265,417 K440R probably benign Het
Gfpt1 A T 6: 87,056,182 K130* probably null Het
Gpr26 T C 7: 131,974,392 probably null Het
Htr2a A T 14: 74,645,062 I163F probably damaging Het
Insrr A G 3: 87,809,572 D673G probably benign Het
Ipo8 G T 6: 148,791,481 C636* probably null Het
Kirrel C A 3: 87,090,473 E248* probably null Het
Lrp6 A G 6: 134,484,265 V743A probably damaging Het
Lrrc45 C A 11: 120,718,318 S374R probably benign Het
Map3k9 G A 12: 81,724,742 P714S probably benign Het
Mrgprb8 T A 7: 48,389,373 L264Q possibly damaging Het
Mroh4 C A 15: 74,606,151 W902L probably benign Het
Nfat5 T A 8: 107,358,735 D535E probably damaging Het
Nfatc3 T C 8: 106,108,185 V713A probably benign Het
Npc1l1 C T 11: 6,214,684 V1122M possibly damaging Het
Nsg2 A G 11: 32,055,011 probably null Het
Olfr1211 C A 2: 88,929,448 R289L probably damaging Het
Olfr282 T A 15: 98,437,779 F103L probably benign Het
Pax9 A T 12: 56,709,819 H314L possibly damaging Het
Phf21a A T 2: 92,360,247 I584F probably damaging Het
Pip5k1c A G 10: 81,313,462 E536G probably benign Het
Plekhm3 A G 1: 64,795,117 S736P probably damaging Het
Ppil2 A G 16: 17,103,602 Y73H probably benign Het
Ppp3cb T A 14: 20,523,577 probably null Het
Prdm9 A T 17: 15,563,260 S14R probably benign Het
Proc A G 18: 32,134,872 I71T probably damaging Het
Prom2 T A 2: 127,538,657 probably benign Het
Psd T C 19: 46,319,545 T675A probably benign Het
Ryr3 A G 2: 112,902,576 probably null Het
Sh2d7 C A 9: 54,540,821 T42N probably benign Het
Sh3glb2 C T 2: 30,346,356 G279D probably benign Het
Slc25a46 A G 18: 31,605,815 probably benign Het
Snx17 T C 5: 31,197,046 S167P probably damaging Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Sptbn4 G A 7: 27,367,679 R1937C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Srsf11 T C 3: 158,016,431 probably benign Het
Taar7b A T 10: 24,000,683 M249L probably benign Het
Tle6 G A 10: 81,600,064 Q6* probably null Het
Ttc30a2 T C 2: 75,976,338 E610G probably benign Het
Twnk G T 19: 45,008,118 R330L probably damaging Het
Unc13a C A 8: 71,656,305 probably benign Het
Vmn2r107 A G 17: 20,356,744 T335A possibly damaging Het
Wdtc1 A T 4: 133,297,478 S469R possibly damaging Het
Zfp382 A T 7: 30,133,737 Y271F probably benign Het
Other mutations in Rnf215
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01958:Rnf215 APN 11 4140317 missense probably damaging 1.00
IGL01973:Rnf215 APN 11 4136615 missense probably damaging 1.00
IGL02664:Rnf215 APN 11 4140307 missense probably damaging 0.98
IGL02986:Rnf215 APN 11 4139793 missense probably damaging 0.99
IGL02988:Rnf215 UTSW 11 4136785 missense probably damaging 0.96
R0316:Rnf215 UTSW 11 4139760 missense probably damaging 0.99
R0693:Rnf215 UTSW 11 4140401 critical splice donor site probably null
R1297:Rnf215 UTSW 11 4139806 missense possibly damaging 0.60
R1519:Rnf215 UTSW 11 4135451 missense probably damaging 0.97
R1584:Rnf215 UTSW 11 4136719 missense probably damaging 0.99
R1778:Rnf215 UTSW 11 4135873 nonsense probably null
R5444:Rnf215 UTSW 11 4135843 missense probably benign 0.36
R5623:Rnf215 UTSW 11 4135453 missense probably benign 0.00
R5964:Rnf215 UTSW 11 4135898 missense probably benign 0.01
R6823:Rnf215 UTSW 11 4136609 missense probably damaging 1.00
R7346:Rnf215 UTSW 11 4139792 nonsense probably null
R7635:Rnf215 UTSW 11 4139989 missense probably damaging 1.00
Posted On2015-04-16