Incidental Mutation 'IGL03023:Rwdd4a'
ID 408038
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rwdd4a
Ensembl Gene ENSMUSG00000031568
Gene Name RWD domain containing 4A
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # IGL03023
Quality Score
Status
Chromosome 8
Chromosomal Location 47986680-48005872 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47995803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 61 (V61A)
Ref Sequence ENSEMBL: ENSMUSP00000135059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033973] [ENSMUST00000175692] [ENSMUST00000176379]
AlphaFold Q9CPR1
Predicted Effect probably benign
Transcript: ENSMUST00000033973
AA Change: V61A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000033973
Gene: ENSMUSG00000031568
AA Change: V61A

DomainStartEndE-ValueType
RWD 9 111 1.07e-12 SMART
low complexity region 131 153 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175692
Predicted Effect probably benign
Transcript: ENSMUST00000176379
AA Change: V61A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000135059
Gene: ENSMUSG00000031568
AA Change: V61A

DomainStartEndE-ValueType
RWD 9 111 1.07e-12 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A G 3: 40,859,419 (GRCm39) D28G probably damaging Het
Btaf1 C T 19: 36,987,415 (GRCm39) R1746C possibly damaging Het
Comp T C 8: 70,831,260 (GRCm39) probably benign Het
Cspg4b A G 13: 113,488,275 (GRCm39) D99G probably benign Het
Cyp2d9 A G 15: 82,339,719 (GRCm39) T313A probably damaging Het
Cyp3a59 T A 5: 146,022,660 (GRCm39) D55E probably benign Het
Dysf A G 6: 84,169,989 (GRCm39) Y1790C probably damaging Het
Fmo3 A C 1: 162,786,034 (GRCm39) F319V probably benign Het
Frem2 A T 3: 53,563,049 (GRCm39) V486D probably benign Het
Gucy2c A T 6: 136,679,794 (GRCm39) probably null Het
Hdac7 A T 15: 97,695,838 (GRCm39) Y674N probably damaging Het
Inpp5a G A 7: 139,105,702 (GRCm39) probably null Het
Jup T C 11: 100,271,518 (GRCm39) probably benign Het
Krt84 T C 15: 101,436,880 (GRCm39) T385A possibly damaging Het
Nbeal1 T C 1: 60,292,572 (GRCm39) Y1075H probably damaging Het
Nphp4 A G 4: 152,608,692 (GRCm39) probably null Het
Or10ak11 A T 4: 118,687,449 (GRCm39) F63I probably damaging Het
Or12d17 A G 17: 37,777,885 (GRCm39) T263A probably benign Het
Or4p7 G A 2: 88,221,687 (GRCm39) C32Y probably damaging Het
Psmc4 T A 7: 27,742,285 (GRCm39) I264L possibly damaging Het
Setx A G 2: 29,035,914 (GRCm39) T800A probably benign Het
Vmn1r74 T C 7: 11,581,257 (GRCm39) C186R possibly damaging Het
Vsig2 A G 9: 37,453,708 (GRCm39) Y136C probably damaging Het
Other mutations in Rwdd4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Rwdd4a APN 8 47,997,219 (GRCm39) missense probably damaging 1.00
IGL01092:Rwdd4a APN 8 47,997,147 (GRCm39) missense possibly damaging 0.96
IGL01717:Rwdd4a APN 8 47,997,140 (GRCm39) splice site probably benign
IGL02268:Rwdd4a APN 8 48,003,731 (GRCm39) nonsense probably null
IGL02813:Rwdd4a APN 8 47,990,396 (GRCm39) critical splice donor site probably null
R0051:Rwdd4a UTSW 8 47,990,400 (GRCm39) splice site probably benign
R0051:Rwdd4a UTSW 8 47,990,400 (GRCm39) splice site probably benign
R0149:Rwdd4a UTSW 8 47,997,255 (GRCm39) missense probably null 0.02
R0179:Rwdd4a UTSW 8 47,995,742 (GRCm39) missense probably damaging 1.00
R5046:Rwdd4a UTSW 8 47,995,837 (GRCm39) critical splice donor site probably null
R5141:Rwdd4a UTSW 8 48,003,709 (GRCm39) intron probably benign
R6280:Rwdd4a UTSW 8 47,995,832 (GRCm39) missense probably benign 0.00
R6742:Rwdd4a UTSW 8 48,000,998 (GRCm39) splice site probably null
R7816:Rwdd4a UTSW 8 47,990,335 (GRCm39) missense probably damaging 1.00
R8864:Rwdd4a UTSW 8 48,000,876 (GRCm39) unclassified probably benign
Posted On 2016-08-02