Incidental Mutation 'IGL01958:Rnf215'
ID181466
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: 0.089) question?
Stock #IGL01958
Quality Score
Status
Chromosome11
Chromosomal Location4135202-4141172 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 4140317 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 345 (C345F)
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: C345F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003677
Gene: ENSMUSG00000003581
AA Change: C345F

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik T C 10: 95,793,797 I29T probably damaging Het
5830411N06Rik T C 7: 140,274,127 C348R probably damaging Het
Agps G A 2: 75,909,701 probably null Het
Agxt2 A G 15: 10,393,708 probably null Het
Ahnak T C 19: 9,014,909 V4519A possibly damaging Het
Aktip T C 8: 91,126,225 D159G probably damaging Het
Ankrd44 T C 1: 54,766,966 I94V probably damaging Het
Asph T C 4: 9,474,904 E674G possibly damaging Het
Atat1 T A 17: 35,908,843 probably benign Het
Ccar1 G A 10: 62,790,935 A20V possibly damaging Het
Cdc26 T C 4: 62,402,764 D14G probably damaging Het
Cdh15 T C 8: 122,859,350 F156S probably damaging Het
Dctn1 A G 6: 83,191,344 T525A possibly damaging Het
Dnah8 T G 17: 30,855,895 probably benign Het
Dnajc10 T A 2: 80,321,304 probably benign Het
Dtl C A 1: 191,568,377 W125L probably damaging Het
Fam3c G A 6: 22,318,955 T149I probably damaging Het
Fgd6 A G 10: 94,138,308 T1304A probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm6578 A G 6: 12,099,767 noncoding transcript Het
Gnai1 A G 5: 18,273,570 F199S probably damaging Het
Grb7 T A 11: 98,454,654 V480D probably damaging Het
Hdc A G 2: 126,594,532 L473P possibly damaging Het
Hmcn1 T C 1: 150,603,871 N4614S probably benign Het
Il20ra A G 10: 19,759,043 D344G probably benign Het
Ints1 C T 5: 139,760,088 R1342Q possibly damaging Het
Itga9 T A 9: 118,636,494 probably benign Het
Kat14 T C 2: 144,394,365 L339P probably damaging Het
Klhl22 A G 16: 17,776,462 I152V probably benign Het
Krtap5-2 C A 7: 142,175,722 G74* probably null Het
Lrrc59 C A 11: 94,638,528 probably null Het
Map3k13 A G 16: 21,892,123 Q52R probably benign Het
Mb21d2 A G 16: 28,827,743 probably benign Het
Mphosph9 A T 5: 124,324,990 probably benign Het
Myrf A G 19: 10,210,378 probably benign Het
Nek11 T C 9: 105,300,303 T250A probably benign Het
Nek5 A T 8: 22,096,826 V323E probably benign Het
Nfasc A T 1: 132,608,438 C586* probably null Het
Nup210l T A 3: 90,203,924 L1711Q possibly damaging Het
Parp8 T G 13: 116,876,572 K644Q probably benign Het
Pcnt G T 10: 76,433,679 Q252K probably damaging Het
Pianp A G 6: 125,000,683 T181A possibly damaging Het
Pkd1 T C 17: 24,580,324 V2839A probably damaging Het
Poli C T 18: 70,526,586 R58H possibly damaging Het
Ptk7 T C 17: 46,579,427 D447G probably benign Het
Rapgef5 A G 12: 117,730,651 I637V probably benign Het
Rasip1 A T 7: 45,636,764 R804* probably null Het
Relt A G 7: 100,851,143 V113A probably benign Het
Scn2a A G 2: 65,701,829 D595G probably damaging Het
Serpina3k G A 12: 104,341,057 V183M probably damaging Het
Snapc4 T C 2: 26,366,440 probably benign Het
Sparcl1 A T 5: 104,092,540 D339E probably benign Het
Tg T C 15: 66,759,486 F535L probably benign Het
Zbtb45 C A 7: 13,006,276 A471S probably benign Het
Zfp106 T A 2: 120,534,807 K373M probably benign Het
Other mutations in Rnf215
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01973:Rnf215 APN 11 4136615 missense probably damaging 1.00
IGL02664:Rnf215 APN 11 4140307 missense probably damaging 0.98
IGL02724:Rnf215 APN 11 4140305 missense probably damaging 1.00
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
R8210:Rnf215 UTSW 11 4135544 missense possibly damaging 0.95
Posted On2014-05-07