Incidental Mutation 'IGL02813:Rwdd4a'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rwdd4a
Ensembl Gene ENSMUSG00000031568
Gene NameRWD domain containing 4A
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.125) question?
Stock #IGL02813
Quality Score
Chromosomal Location47533664-47552955 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 47537361 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033973] [ENSMUST00000039061] [ENSMUST00000175692] [ENSMUST00000176379]
Predicted Effect probably null
Transcript: ENSMUST00000033973
SMART Domains Protein: ENSMUSP00000033973
Gene: ENSMUSG00000031568

RWD 9 111 1.07e-12 SMART
low complexity region 131 153 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000039061
SMART Domains Protein: ENSMUSP00000047562
Gene: ENSMUSG00000038102

Pfam:Foie-gras_1 263 522 3e-78 PFAM
Pfam:Gryzun 978 1114 3.9e-10 PFAM
Pfam:Gryzun-like 1036 1095 2.4e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125065
Predicted Effect probably benign
Transcript: ENSMUST00000175692
Predicted Effect probably null
Transcript: ENSMUST00000176379
SMART Domains Protein: ENSMUSP00000135059
Gene: ENSMUSG00000031568

RWD 9 111 1.07e-12 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 C A 11: 7,146,591 Q660K possibly damaging Het
Arhgap5 A C 12: 52,516,965 T240P probably benign Het
Arhgef7 C T 8: 11,800,767 probably benign Het
Cttnbp2 C A 6: 18,367,538 V1594F possibly damaging Het
Cyp2a22 G T 7: 26,936,434 Q235K probably benign Het
E330009J07Rik C T 6: 40,418,539 V212I probably benign Het
Ecm1 G A 3: 95,736,786 P169S probably damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Ern1 T C 11: 106,423,425 D183G probably damaging Het
Gpat2 T C 2: 127,434,455 V635A possibly damaging Het
Gria1 A G 11: 57,283,584 N564S probably damaging Het
Grtp1 A C 8: 13,186,945 I173S possibly damaging Het
Hsd17b4 A G 18: 50,128,348 probably benign Het
Lrp1b T C 2: 40,679,217 probably null Het
Mark4 A T 7: 19,447,256 probably null Het
Mphosph9 T C 5: 124,315,628 D207G probably benign Het
Mrgprd A G 7: 145,321,514 M41V probably benign Het
Myo1g T C 11: 6,518,743 *66W probably null Het
Neto2 C A 8: 85,690,886 D30Y probably benign Het
Nlrp6 A T 7: 140,923,420 I450F possibly damaging Het
Nup155 T A 15: 8,130,121 probably benign Het
Olfr1205 A G 2: 88,831,151 I11M probably benign Het
Pcdhb10 T G 18: 37,413,762 S630R possibly damaging Het
Slc12a7 T A 13: 73,813,676 probably benign Het
Slc22a20 C T 19: 5,984,858 V192I probably benign Het
Slc9a2 T A 1: 40,742,669 S353T probably damaging Het
Srgap3 A G 6: 112,731,480 F753L probably damaging Het
Tcea1 C T 1: 4,886,756 T93I probably benign Het
Tctex1d1 A G 4: 102,992,572 N64S probably damaging Het
Tecpr2 A T 12: 110,933,192 S665C probably damaging Het
Tor4a C A 2: 25,194,749 E381* probably null Het
Vdr A G 15: 97,869,681 Y143H probably benign Het
Vmn2r91 A C 17: 18,136,086 T672P possibly damaging Het
Wdr41 A G 13: 94,995,245 probably null 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
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 On2015-12-18