Incidental Mutation 'IGL02236:Rnf224'
ID 285875
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf224
Ensembl Gene ENSMUSG00000089953
Gene Name ring finger protein 224
Synonyms Gm757, LOC329360
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL02236
Quality Score
Status
Chromosome 2
Chromosomal Location 25124488-25126799 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25126260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 31 (D31G)
Ref Sequence ENSEMBL: ENSMUSP00000145127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006638] [ENSMUST00000043379] [ENSMUST00000091318] [ENSMUST00000114356] [ENSMUST00000205192] [ENSMUST00000186719]
AlphaFold Q3UIW8
Predicted Effect probably benign
Transcript: ENSMUST00000006638
SMART Domains Protein: ENSMUSP00000006638
Gene: ENSMUSG00000006469

DomainStartEndE-ValueType
Pfam:Na_Pi_cotrans 84 231 1.8e-25 PFAM
low complexity region 254 269 N/A INTRINSIC
Pfam:Na_Pi_cotrans 337 538 1.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000043379
SMART Domains Protein: ENSMUSP00000045363
Gene: ENSMUSG00000036731

DomainStartEndE-ValueType
Pfam:DUF2477 1 141 2.2e-92 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000091318
AA Change: D31G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088868
Gene: ENSMUSG00000089953
AA Change: D31G

DomainStartEndE-ValueType
RING 23 69 8.23e-6 SMART
low complexity region 137 148 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000091318
AA Change: D31G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145470
Gene: ENSMUSG00000089953
AA Change: D31G

DomainStartEndE-ValueType
RING 23 69 8.23e-6 SMART
low complexity region 137 148 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114356
SMART Domains Protein: ENSMUSP00000109996
Gene: ENSMUSG00000036731

DomainStartEndE-ValueType
Pfam:DUF2477 1 141 2.3e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124146
Predicted Effect probably damaging
Transcript: ENSMUST00000205192
AA Change: D31G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145127
Gene: ENSMUSG00000089953
AA Change: D31G

DomainStartEndE-ValueType
RING 23 69 8.23e-6 SMART
low complexity region 137 148 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152997
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142095
Predicted Effect probably benign
Transcript: ENSMUST00000186719
SMART Domains Protein: ENSMUSP00000140416
Gene: ENSMUSG00000036731

DomainStartEndE-ValueType
Pfam:DUF2477 1 141 2.2e-92 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baz1b T C 5: 135,246,138 (GRCm39) L529P probably damaging Het
Bdp1 A T 13: 100,197,399 (GRCm39) D995E probably benign Het
Cd22 T C 7: 30,566,893 (GRCm39) N607S possibly damaging Het
Ddx10 T A 9: 53,146,682 (GRCm39) D180V probably damaging Het
Dennd4c T C 4: 86,725,672 (GRCm39) Y709H possibly damaging Het
Dhrs3 A C 4: 144,620,133 (GRCm39) I17L probably benign Het
Dnah8 A T 17: 30,868,747 (GRCm39) K394* probably null Het
Flnc T A 6: 29,454,375 (GRCm39) I1896N probably damaging Het
Glipr1l2 A G 10: 111,928,534 (GRCm39) Y143C probably damaging Het
Lmo7 T C 14: 102,163,524 (GRCm39) probably benign Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mast3 A G 8: 71,241,888 (GRCm39) S98P probably benign Het
Myf5 A G 10: 107,320,051 (GRCm39) S200P possibly damaging Het
Or52r1b T G 7: 102,690,928 (GRCm39) S76A possibly damaging Het
Pramel12 G A 4: 143,143,512 (GRCm39) V93I probably benign Het
Recql5 A C 11: 115,784,856 (GRCm39) S824A probably benign Het
Reg2 A G 6: 78,383,188 (GRCm39) E45G probably damaging Het
Rergl T C 6: 139,471,918 (GRCm39) D77G probably benign Het
Sema4c C T 1: 36,592,166 (GRCm39) S227N probably damaging Het
Sgsm2 C T 11: 74,750,698 (GRCm39) G439D probably damaging Het
Smap2 T A 4: 120,832,587 (GRCm39) M185L probably benign Het
Spty2d1 A G 7: 46,647,360 (GRCm39) V523A probably benign Het
Stk17b C A 1: 53,803,247 (GRCm39) R184L probably damaging Het
Syt13 A G 2: 92,771,210 (GRCm39) D99G probably damaging Het
Trav14-1 T A 14: 53,791,763 (GRCm39) S38T possibly damaging Het
Ttn T C 2: 76,700,812 (GRCm39) probably benign Het
Usp17la G A 7: 104,510,353 (GRCm39) W319* probably null Het
Vmn2r73 T C 7: 85,521,902 (GRCm39) T146A probably benign Het
Vwa3b C T 1: 37,193,132 (GRCm39) probably benign Het
Zfp13 A T 17: 23,799,739 (GRCm39) probably benign Het
Zscan18 A C 7: 12,503,251 (GRCm39) D769E probably benign Het
Other mutations in Rnf224
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01289:Rnf224 APN 2 25,126,259 (GRCm39) missense possibly damaging 0.51
R0036:Rnf224 UTSW 2 25,126,143 (GRCm39) missense probably damaging 1.00
R0240:Rnf224 UTSW 2 25,126,219 (GRCm39) missense probably damaging 0.98
R0240:Rnf224 UTSW 2 25,126,219 (GRCm39) missense probably damaging 0.98
R1528:Rnf224 UTSW 2 25,126,110 (GRCm39) missense probably benign 0.04
R5739:Rnf224 UTSW 2 25,126,012 (GRCm39) missense probably benign
R6369:Rnf224 UTSW 2 25,125,954 (GRCm39) missense probably damaging 1.00
R9567:Rnf224 UTSW 2 25,126,354 (GRCm39) start gained probably benign
R9621:Rnf224 UTSW 2 25,126,200 (GRCm39) missense probably benign 0.09
R9674:Rnf224 UTSW 2 25,126,330 (GRCm39) missense probably benign
Posted On 2015-04-16