Incidental Mutation 'IGL01717:Rwdd4a'
ID104987
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: 0.190) question?
Stock #IGL01717
Quality Score
Status
Chromosome8
Chromosomal Location47533664-47552955 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 47544105 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033973] [ENSMUST00000175692] [ENSMUST00000176379]
Predicted Effect probably benign
Transcript: ENSMUST00000033973
SMART Domains Protein: ENSMUSP00000033973
Gene: ENSMUSG00000031568

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
SMART Domains Protein: ENSMUSP00000135059
Gene: ENSMUSG00000031568

DomainStartEndE-ValueType
RWD 9 111 1.07e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177215
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,034,736 S4112G probably benign Het
Aif1 A T 17: 35,171,555 M73K probably damaging Het
Alk T C 17: 72,603,382 I110V probably benign Het
Aoah T C 13: 20,999,977 S404P probably damaging Het
Bhlhe41 A G 6: 145,863,037 S350P possibly damaging Het
Capn12 A G 7: 28,889,105 D540G probably benign Het
Chd6 A G 2: 160,965,259 Y2012H possibly damaging Het
Col1a1 A G 11: 94,950,777 T1284A unknown Het
Col24a1 T C 3: 145,524,263 probably benign Het
Col4a5 T A X: 141,639,238 V1070D unknown Het
Col6a5 T C 9: 105,940,273 T280A unknown Het
Dicer1 A T 12: 104,702,787 L1212* probably null Het
Gigyf1 T A 5: 137,525,691 V1041E probably damaging Het
Gm4978 C T 9: 69,450,873 probably benign Het
Gnai1 A G 5: 18,291,461 probably null Het
Golgb1 C T 16: 36,915,502 R1704* probably null Het
Incenp A G 19: 9,893,265 probably benign Het
Lrrc39 A T 3: 116,579,497 probably benign Het
Man2a2 T C 7: 80,367,365 K319E probably damaging Het
Neb T C 2: 52,189,867 D83G probably damaging Het
Osbpl6 T C 2: 76,588,594 I732T probably damaging Het
Pacs1 T A 19: 5,167,972 K130N probably damaging Het
Pappa2 A G 1: 158,857,132 probably null Het
Pole2 T C 12: 69,213,849 M186V probably damaging Het
Sel1l3 A G 5: 53,200,168 Y161H probably damaging Het
Sf3a2 C T 10: 80,804,692 Q446* probably null Het
Slc26a3 T C 12: 31,463,477 I466T probably benign Het
Slc29a4 A T 5: 142,718,746 I348F probably damaging Het
Tbl1xr1 A G 3: 22,193,171 probably benign Het
Tlr5 A T 1: 182,975,398 I756F probably damaging Het
Ttn T A 2: 76,730,402 L29218F probably damaging Het
Ttn A T 2: 76,730,404 L29218I 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
IGL02268:Rwdd4a APN 8 47550696 nonsense probably null
IGL02813:Rwdd4a APN 8 47537361 critical splice donor site probably null
IGL03023:Rwdd4a APN 8 47542768 missense probably benign 0.00
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
R7816:Rwdd4a UTSW 8 47537300 missense probably damaging 1.00
Posted On2014-01-21