Incidental Mutation 'IGL01289:Rnf224'
ID72843
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf224
Ensembl Gene ENSMUSG00000089953
Gene Namering finger protein 224
SynonymsGm757, LOC329360
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL01289
Quality Score
Status
Chromosome2
Chromosomal Location25234476-25236787 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 25236247 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 31 (D31E)
Ref Sequence ENSEMBL: ENSMUSP00000145127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006638] [ENSMUST00000043379] [ENSMUST00000091318] [ENSMUST00000114356] [ENSMUST00000186719] [ENSMUST00000205192]
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 possibly damaging
Transcript: ENSMUST00000091318
AA Change: D31E

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000088868
Gene: ENSMUSG00000089953
AA Change: D31E

DomainStartEndE-ValueType
RING 23 69 8.23e-6 SMART
low complexity region 137 148 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000091318
AA Change: D31E

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145470
Gene: ENSMUSG00000089953
AA Change: D31E

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 noncoding transcript
Transcript: ENSMUST00000137482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152997
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155420
Predicted Effect probably benign
Transcript: ENSMUST00000186719
SMART Domains Protein: ENSMUSP00000140416
Gene: ENSMUSG00000036731

DomainStartEndE-ValueType
Pfam:DUF2477 1 141 2.2e-92 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000205192
AA Change: D31E

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145127
Gene: ENSMUSG00000089953
AA Change: D31E

DomainStartEndE-ValueType
RING 23 69 8.23e-6 SMART
low complexity region 137 148 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T A 7: 131,138,621 M289L probably benign Het
Actg2 A T 6: 83,523,175 M38K probably damaging Het
Atp8a2 G A 14: 59,691,461 A1048V probably benign Het
Cables1 T C 18: 11,944,564 V583A probably damaging Het
Ccng2 A G 5: 93,273,417 K262R probably null Het
Cfap206 C A 4: 34,716,469 S332I probably null Het
Dscam A T 16: 96,643,882 Y1536* probably null Het
Fam136b-ps T A 15: 31,276,864 probably benign Het
Fga A G 3: 83,031,245 Y309C possibly damaging Het
Fgd4 A T 16: 16,484,303 N129K probably damaging Het
Gbp8 G A 5: 105,017,869 A306V probably benign Het
Hecw1 T C 13: 14,264,134 Y888C probably damaging Het
Herc6 G A 6: 57,598,623 G210R probably damaging Het
Ints7 G A 1: 191,615,778 R754H probably benign Het
Itga1 T C 13: 114,986,226 I731M possibly damaging Het
Itpr2 T A 6: 146,112,535 K2588* probably null Het
Itpr3 T A 17: 27,099,765 M965K probably damaging Het
Kif22 A G 7: 127,033,473 V247A probably damaging Het
Lrrc17 T C 5: 21,560,901 F127S probably damaging Het
Lrriq4 T A 3: 30,650,393 L190Q probably damaging Het
Mcee T A 7: 64,400,318 F66I probably damaging Het
Med23 T C 10: 24,902,121 F789S probably damaging Het
Nmd3 T G 3: 69,724,287 S25R possibly damaging Het
Npy5r T A 8: 66,681,866 N92Y possibly damaging Het
Olfr1241 A G 2: 89,482,847 M96T probably benign Het
Timd2 T C 11: 46,679,672 E192G probably benign Het
Ttll13 T A 7: 80,260,439 C777S probably benign Het
Tubgcp3 A G 8: 12,639,625 L547P probably damaging Het
Usp47 G T 7: 112,063,358 V236F probably damaging Het
Xirp2 A T 2: 67,513,181 N1922I probably damaging Het
Zdhhc24 G T 19: 4,878,822 W25L probably damaging Het
Other mutations in Rnf224
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02236:Rnf224 APN 2 25236248 missense probably damaging 0.96
R0036:Rnf224 UTSW 2 25236131 missense probably damaging 1.00
R0240:Rnf224 UTSW 2 25236207 missense probably damaging 0.98
R0240:Rnf224 UTSW 2 25236207 missense probably damaging 0.98
R1528:Rnf224 UTSW 2 25236098 missense probably benign 0.04
R5739:Rnf224 UTSW 2 25236000 missense probably benign
R6369:Rnf224 UTSW 2 25235942 missense probably damaging 1.00
Posted On2013-10-07