Incidental Mutation 'IGL03023:Rwdd4a'
ID408038
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rwdd4a
Ensembl Gene ENSMUSG00000031568
Gene NameRWD domain containing 4A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #IGL03023
Quality Score
Status
Chromosome8
Chromosomal Location47533664-47552955 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 47542768 bp
ZygosityHeterozygous
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]
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: 40,904,984 D28G probably damaging Het
BC067074 A G 13: 113,351,741 D99G probably benign Het
Btaf1 C T 19: 37,010,015 R1746C possibly damaging Het
Comp T C 8: 70,378,610 probably benign Het
Cyp2d9 A G 15: 82,455,518 T313A probably damaging Het
Cyp3a59 T A 5: 146,085,850 D55E probably benign Het
Dysf A G 6: 84,193,007 Y1790C probably damaging Het
Fmo3 A C 1: 162,958,465 F319V probably benign Het
Frem2 A T 3: 53,655,628 V486D probably benign Het
Gucy2c A T 6: 136,702,796 probably null Het
Hdac7 A T 15: 97,797,957 Y674N probably damaging Het
Inpp5a G A 7: 139,525,786 probably null Het
Jup T C 11: 100,380,692 probably benign Het
Krt84 T C 15: 101,528,445 T385A possibly damaging Het
Nbeal1 T C 1: 60,253,413 Y1075H probably damaging Het
Nphp4 A G 4: 152,524,235 probably null Het
Olfr109 A G 17: 37,466,994 T263A probably benign Het
Olfr1178 G A 2: 88,391,343 C32Y probably damaging Het
Olfr1333 A T 4: 118,830,252 F63I probably damaging Het
Psmc4 T A 7: 28,042,860 I264L possibly damaging Het
Setx A G 2: 29,145,902 T800A probably benign Het
Vmn1r74 T C 7: 11,847,330 C186R possibly damaging Het
Vsig2 A G 9: 37,542,412 Y136C probably damaging Het
Other mutations in Rwdd4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Rwdd4a APN 8 47544184 missense probably damaging 1.00
IGL01092:Rwdd4a APN 8 47544112 missense possibly damaging 0.96
IGL01717:Rwdd4a APN 8 47544105 splice site probably benign
IGL02268:Rwdd4a APN 8 47550696 nonsense probably null
IGL02813:Rwdd4a APN 8 47537361 critical splice donor site probably null
R0051:Rwdd4a UTSW 8 47537365 splice site probably benign
R0051:Rwdd4a UTSW 8 47537365 splice site probably benign
R0149:Rwdd4a UTSW 8 47544220 missense probably null 0.02
R0179:Rwdd4a UTSW 8 47542707 missense probably damaging 1.00
R5046:Rwdd4a UTSW 8 47542802 critical splice donor site probably null
R5141:Rwdd4a UTSW 8 47550674 intron probably benign
R6280:Rwdd4a UTSW 8 47542797 missense probably benign 0.00
R6742:Rwdd4a UTSW 8 47547963 splice site probably null
Posted On2016-08-02