Incidental Mutation 'IGL02621:Wdr38'
ID300851
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr38
Ensembl Gene ENSMUSG00000035295
Gene NameWD repeat domain 38
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL02621
Quality Score
Status
Chromosome2
Chromosomal Location38997476-39006168 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 38998412 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 7 (N7I)
Ref Sequence ENSEMBL: ENSMUSP00000108493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039535] [ENSMUST00000080861] [ENSMUST00000112872]
Predicted Effect probably damaging
Transcript: ENSMUST00000039535
AA Change: N7I

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043834
Gene: ENSMUSG00000035295
AA Change: N7I

DomainStartEndE-ValueType
WD40 15 54 9.67e-7 SMART
WD40 57 96 9.22e-13 SMART
WD40 99 138 4.4e-10 SMART
WD40 141 180 1.21e-7 SMART
WD40 186 224 9.97e-9 SMART
WD40 227 266 4.34e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000080861
SMART Domains Protein: ENSMUSP00000079672
Gene: ENSMUSG00000062997

DomainStartEndE-ValueType
Pfam:Ribosomal_L29 7 63 2.7e-22 PFAM
low complexity region 95 108 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112872
AA Change: N7I

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108493
Gene: ENSMUSG00000035295
AA Change: N7I

DomainStartEndE-ValueType
WD40 15 54 9.67e-7 SMART
WD40 57 96 9.22e-13 SMART
WD40 99 138 4.4e-10 SMART
WD40 141 180 1.21e-7 SMART
WD40 186 224 9.97e-9 SMART
WD40 227 266 4.34e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124062
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152441
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002L01Rik C A 12: 3,426,688 probably benign Het
2210408I21Rik T C 13: 77,260,031 I159T possibly damaging Het
4932438A13Rik T A 3: 37,041,484 probably benign Het
Agpat3 T A 10: 78,285,066 I93F probably damaging Het
AI481877 A T 4: 59,062,668 W863R probably damaging Het
Armc8 T C 9: 99,527,069 probably benign Het
Atr G A 9: 95,908,400 A1598T probably benign Het
Clk1 T C 1: 58,414,455 D324G probably damaging Het
Cntnap4 A T 8: 112,810,723 D742V probably damaging Het
Esrrb A G 12: 86,421,961 N16S probably benign Het
Grm1 A T 10: 10,689,011 Y1184* probably null Het
Hint1 G T 11: 54,870,185 probably benign Het
Itch A T 2: 155,172,584 probably null Het
Lmod3 T C 6: 97,238,835 probably benign Het
Map3k4 C A 17: 12,264,013 A606S probably damaging Het
Mapk4 A T 18: 73,970,275 S54R probably damaging Het
Megf11 A G 9: 64,693,932 D807G probably benign Het
Mgat5 A G 1: 127,397,589 T398A possibly damaging Het
Nme8 T G 13: 19,675,648 K28N probably damaging Het
Pamr1 A G 2: 102,634,343 N279S probably benign Het
Pcca A T 14: 122,684,979 D384V probably damaging Het
Prkag1 A T 15: 98,814,028 I239N probably damaging Het
Psme4 A G 11: 30,848,131 T1375A probably benign Het
Ptk2 A C 15: 73,206,145 L1024R probably damaging Het
Rere G A 4: 150,613,812 probably benign Het
Scn2a A G 2: 65,748,879 probably benign Het
Sema5a T A 15: 32,538,656 probably benign Het
Slc9a1 T A 4: 133,370,568 W9R probably benign Het
Slco1a5 T A 6: 142,242,015 M533L probably benign Het
Ttll4 T A 1: 74,687,484 S720T probably damaging Het
Vmn1r168 A T 7: 23,541,355 R212S probably damaging Het
Vmn2r114 T C 17: 23,310,520 I203V probably damaging Het
Other mutations in Wdr38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01549:Wdr38 APN 2 39000718 missense probably damaging 1.00
IGL02019:Wdr38 APN 2 38998412 missense probably damaging 0.97
IGL02020:Wdr38 APN 2 38998412 missense probably damaging 0.97
IGL02137:Wdr38 APN 2 38998412 missense probably damaging 0.97
IGL02138:Wdr38 APN 2 38998412 missense probably damaging 0.97
IGL02172:Wdr38 APN 2 38998412 missense probably damaging 0.97
IGL02178:Wdr38 APN 2 38998412 missense probably damaging 0.97
IGL02422:Wdr38 APN 2 38998412 missense probably damaging 0.97
IGL02423:Wdr38 APN 2 38998412 missense probably damaging 0.97
IGL02525:Wdr38 APN 2 38998412 missense probably damaging 0.97
IGL02526:Wdr38 APN 2 38998412 missense probably damaging 0.97
IGL02623:Wdr38 APN 2 38998412 missense probably damaging 0.97
IGL02624:Wdr38 APN 2 38998412 missense probably damaging 0.97
IGL02625:Wdr38 APN 2 38998412 missense probably damaging 0.97
PIT4696001:Wdr38 UTSW 2 38999972 critical splice acceptor site probably null
R1473:Wdr38 UTSW 2 39000979 missense probably benign 0.03
R1794:Wdr38 UTSW 2 39000729 missense probably damaging 1.00
R3964:Wdr38 UTSW 2 38999350 missense probably damaging 1.00
R6005:Wdr38 UTSW 2 39001321 missense possibly damaging 0.57
R6432:Wdr38 UTSW 2 39000711 missense probably damaging 1.00
R6513:Wdr38 UTSW 2 38999958 splice site probably null
R7266:Wdr38 UTSW 2 39000264 missense probably damaging 1.00
R7454:Wdr38 UTSW 2 38998340 start gained probably benign
R7834:Wdr38 UTSW 2 39000184 missense possibly damaging 0.84
R8333:Wdr38 UTSW 2 38999349 missense probably damaging 1.00
Posted On2015-04-16