Incidental Mutation 'IGL02019:Wdr38'
ID183883
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: 0.076) question?
Stock #IGL02019
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik C T 5: 114,879,584 A178V possibly damaging Het
9930021J03Rik A T 19: 29,717,063 S976T probably benign Het
Acad11 A G 9: 104,115,345 I495M probably damaging Het
Adgrd1 T C 5: 129,115,138 S91P probably benign Het
Agk A G 6: 40,376,226 I175V probably damaging Het
Ascc3 A T 10: 50,690,139 N727Y probably damaging Het
Atrnl1 A T 19: 57,691,763 probably benign Het
B4galt3 G A 1: 171,271,792 G42D probably damaging Het
Brip1 C T 11: 86,197,949 C42Y possibly damaging Het
Camkk1 T C 11: 73,037,201 F233L probably damaging Het
Cd300ld A T 11: 114,987,401 M95K probably damaging Het
Cdv3 A G 9: 103,360,025 probably benign Het
Cog3 G T 14: 75,730,604 Q430K possibly damaging Het
D6Wsu163e G A 6: 126,955,221 G308S probably damaging Het
Dnah2 A G 11: 69,474,285 M1951T probably damaging Het
Elavl3 G A 9: 22,036,718 T51I probably damaging Het
Eri2 A T 7: 119,786,080 C399* probably null Het
Ezh2 A T 6: 47,551,901 probably null Het
Fgd6 C A 10: 94,133,354 T1161K probably damaging Het
Gbf1 A T 19: 46,279,292 H1193L possibly damaging Het
Gbp2b T A 3: 142,606,990 F378Y possibly damaging Het
Hectd2 G A 19: 36,615,516 V694M possibly damaging Het
Hook1 T A 4: 96,022,197 S683T probably benign Het
Ifi202b G A 1: 173,974,984 R95C possibly damaging Het
Kdm8 G T 7: 125,452,486 V84L probably damaging Het
Kifc3 G A 8: 95,107,540 probably benign Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Lrig1 G T 6: 94,616,429 Q424K probably damaging Het
Lrriq1 A T 10: 103,178,800 M1049K probably benign Het
Mcidas A G 13: 112,996,843 N103D probably benign Het
Mdn1 T C 4: 32,749,948 L4377S possibly damaging Het
Mrpl41 T C 2: 24,974,417 D81G possibly damaging Het
Mug2 G A 6: 122,047,435 V489I probably benign Het
P2rx5 G T 11: 73,167,977 probably benign Het
Pfas A T 11: 68,993,463 probably benign Het
Pknox2 A G 9: 36,923,633 L180P probably damaging Het
Psmd5 C A 2: 34,854,274 C412F probably benign Het
Rbks T A 5: 31,660,017 D136V probably damaging Het
Rgl1 A G 1: 152,528,469 probably benign Het
Scube3 A G 17: 28,167,684 D721G probably damaging Het
Snrnp200 T A 2: 127,232,905 V1466D possibly damaging Het
Stambp A T 6: 83,552,031 L344Q probably damaging Het
Tctn1 A T 5: 122,258,849 I157N probably damaging Het
Top2b T A 14: 16,409,965 D877E probably benign Het
Vmn1r78 G A 7: 12,152,707 G82S probably damaging Het
Vnn1 T C 10: 23,903,551 F453L possibly damaging Het
Other mutations in Wdr38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01549:Wdr38 APN 2 39000718 missense probably damaging 1.00
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
IGL02621: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
R7917:Wdr38 UTSW 2 39000184 missense possibly damaging 0.84
Posted On2014-05-07