Incidental Mutation 'IGL01511:Wdr78'
ID89209
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr78
Ensembl Gene ENSMUSG00000035126
Gene NameWD repeat domain 78
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #IGL01511
Quality Score
Status
Chromosome4
Chromosomal Location103038065-103114555 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 103048361 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 741 (D741G)
Ref Sequence ENSEMBL: ENSMUSP00000102481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036451] [ENSMUST00000036557] [ENSMUST00000106868] [ENSMUST00000116316]
Predicted Effect probably benign
Transcript: ENSMUST00000036451
SMART Domains Protein: ENSMUSP00000037588
Gene: ENSMUSG00000035126

DomainStartEndE-ValueType
low complexity region 12 20 N/A INTRINSIC
low complexity region 32 43 N/A INTRINSIC
low complexity region 138 157 N/A INTRINSIC
low complexity region 189 206 N/A INTRINSIC
low complexity region 219 234 N/A INTRINSIC
low complexity region 382 390 N/A INTRINSIC
low complexity region 399 423 N/A INTRINSIC
internal_repeat_1 447 466 2.11e-5 PROSPERO
WD40 485 524 1.85e-3 SMART
WD40 534 581 5.7e1 SMART
Predicted Effect silent
Transcript: ENSMUST00000036557
SMART Domains Protein: ENSMUSP00000042272
Gene: ENSMUSG00000035126

DomainStartEndE-ValueType
low complexity region 59 67 N/A INTRINSIC
low complexity region 76 100 N/A INTRINSIC
WD40 133 172 9.24e-4 SMART
WD40 182 229 5.7e1 SMART
low complexity region 249 261 N/A INTRINSIC
Blast:WD40 262 296 2e-12 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000106868
AA Change: D741G

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102481
Gene: ENSMUSG00000035126
AA Change: D741G

DomainStartEndE-ValueType
low complexity region 12 20 N/A INTRINSIC
low complexity region 32 43 N/A INTRINSIC
low complexity region 138 157 N/A INTRINSIC
low complexity region 189 206 N/A INTRINSIC
low complexity region 219 234 N/A INTRINSIC
low complexity region 382 390 N/A INTRINSIC
low complexity region 399 423 N/A INTRINSIC
internal_repeat_1 447 466 8.61e-5 PROSPERO
WD40 485 524 1.85e-3 SMART
WD40 534 581 5.7e1 SMART
low complexity region 601 613 N/A INTRINSIC
Blast:WD40 614 648 3e-12 BLAST
WD40 652 692 2.38e-6 SMART
WD40 695 734 1.48e-2 SMART
WD40 739 779 6.14e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116316
SMART Domains Protein: ENSMUSP00000112018
Gene: ENSMUSG00000035126

DomainStartEndE-ValueType
low complexity region 12 20 N/A INTRINSIC
low complexity region 32 43 N/A INTRINSIC
low complexity region 138 157 N/A INTRINSIC
low complexity region 189 206 N/A INTRINSIC
low complexity region 219 234 N/A INTRINSIC
low complexity region 382 390 N/A INTRINSIC
low complexity region 399 423 N/A INTRINSIC
internal_repeat_1 447 466 2.11e-5 PROSPERO
WD40 485 524 1.85e-3 SMART
WD40 534 581 5.7e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138960
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,244,310 D216E probably benign Het
Abcc4 C A 14: 118,599,341 L669F probably benign Het
Adam29 C T 8: 55,871,421 G666D probably damaging Het
Adat2 T G 10: 13,560,238 M109R probably null Het
Atf3 T A 1: 191,171,496 T178S probably benign Het
Birc6 T A 17: 74,627,003 Y2522* probably null Het
Ccr8 G A 9: 120,094,625 G269R probably damaging Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Chrna4 C T 2: 181,028,668 V432I probably benign Het
Commd8 A G 5: 72,165,379 V65A probably benign Het
Cyp2j13 A G 4: 96,077,315 F52L possibly damaging Het
Desi1 T A 15: 82,002,588 K45* probably null Het
Dmbt1 T A 7: 131,116,728 M1552K possibly damaging Het
Dna2 G A 10: 62,955,314 M197I possibly damaging Het
Dnah7a A C 1: 53,419,595 L3795V probably damaging Het
Fam221b T C 4: 43,660,135 probably null Het
Fbxw18 A T 9: 109,688,821 S366T possibly damaging Het
Fzd8 A G 18: 9,213,293 Y125C unknown Het
Gcsam T C 16: 45,615,952 Y11H probably damaging Het
Gucy2f G T X: 142,161,734 D410E probably damaging Het
Hdac3 C T 18: 37,952,595 A53T probably benign Het
Lamp2 A G X: 38,431,875 L244P probably damaging Het
Lrrk1 A T 7: 66,265,450 F1630Y possibly damaging Het
M1ap C A 6: 83,028,412 D434E probably benign Het
Mcmbp A G 7: 128,707,164 Y378H probably damaging Het
Mvb12a T A 8: 71,545,302 V120E probably damaging Het
Nbeal2 A C 9: 110,629,234 W2063G probably damaging Het
Neto1 A C 18: 86,395,908 H9P possibly damaging Het
Nmu C T 5: 76,340,821 V126M probably damaging Het
Odf2 T C 2: 29,914,309 probably benign Het
Olfr1387 A G 11: 49,460,216 E179G probably damaging Het
Pdzrn3 T C 6: 101,153,256 H533R possibly damaging Het
Pikfyve G T 1: 65,258,869 E1586* probably null Het
Plcb3 C A 19: 6,955,843 R970L probably damaging Het
Plxna3 A G X: 74,335,308 E686G probably damaging Het
Polrmt T A 10: 79,740,151 Y586F probably benign Het
Ppt1 T A 4: 122,854,425 F225I probably damaging Het
Prcc T G 3: 87,872,241 D162A probably damaging Het
Ripor1 T C 8: 105,619,930 probably benign Het
Rnaseh1 A G 12: 28,659,009 H263R probably damaging Het
Rnf19b T A 4: 129,080,418 S490R probably damaging Het
Slc15a2 T A 16: 36,784,726 T23S probably damaging Het
Slc17a2 T C 13: 23,819,138 probably null Het
Slc35f4 T C 14: 49,298,877 M434V probably benign Het
Slc52a3 C T 2: 152,004,644 T175I probably benign Het
Slc5a2 C T 7: 128,270,622 T409M probably benign Het
Tbc1d24 A G 17: 24,181,918 S108P probably benign Het
Thnsl2 T G 6: 71,139,793 Q125P probably benign Het
Ttc13 T C 8: 124,676,371 D672G probably damaging Het
Ttn G T 2: 76,753,745 H14013N possibly damaging Het
Unc5a T C 13: 55,004,816 F792L probably damaging Het
Vac14 T C 8: 110,712,798 V669A possibly damaging Het
Vmn1r13 A T 6: 57,210,329 M158L probably benign Het
Vmn1r220 A T 13: 23,184,214 V104D probably damaging Het
Zfp738 A T 13: 67,683,401 probably null Het
Zscan5b A C 7: 6,231,422 H149P probably benign Het
Other mutations in Wdr78
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Wdr78 APN 4 103103242 missense possibly damaging 0.77
IGL01508:Wdr78 APN 4 103072687 missense possibly damaging 0.94
IGL01509:Wdr78 APN 4 103072687 missense possibly damaging 0.94
IGL01693:Wdr78 APN 4 103087330 splice site probably null
IGL01731:Wdr78 APN 4 103062435 missense probably benign 0.01
IGL02033:Wdr78 APN 4 103066293 missense possibly damaging 0.58
IGL02100:Wdr78 APN 4 103050149 missense probably damaging 1.00
IGL02218:Wdr78 APN 4 103096774 missense probably damaging 1.00
IGL02226:Wdr78 APN 4 103090398 missense probably benign 0.00
IGL02476:Wdr78 APN 4 103087348 missense possibly damaging 0.46
IGL02929:Wdr78 APN 4 103059991 nonsense probably null
R0070:Wdr78 UTSW 4 103059934 missense probably damaging 1.00
R0377:Wdr78 UTSW 4 103048259 missense probably damaging 1.00
R0433:Wdr78 UTSW 4 103103253 missense probably benign 0.41
R0518:Wdr78 UTSW 4 103064530 nonsense probably null
R0538:Wdr78 UTSW 4 103096618 missense possibly damaging 0.65
R0624:Wdr78 UTSW 4 103072857 splice site probably benign
R0894:Wdr78 UTSW 4 103049386 intron probably benign
R1463:Wdr78 UTSW 4 103087418 missense possibly damaging 0.95
R1818:Wdr78 UTSW 4 103072657 missense possibly damaging 0.67
R2073:Wdr78 UTSW 4 103050193 missense probably damaging 1.00
R2075:Wdr78 UTSW 4 103050193 missense probably damaging 1.00
R2436:Wdr78 UTSW 4 103066352 missense probably benign 0.01
R2851:Wdr78 UTSW 4 103096661 missense probably benign 0.12
R2852:Wdr78 UTSW 4 103096661 missense probably benign 0.12
R2853:Wdr78 UTSW 4 103050158 missense possibly damaging 0.90
R4491:Wdr78 UTSW 4 103066399 missense probably benign 0.04
R4792:Wdr78 UTSW 4 103072684 missense possibly damaging 0.94
R5223:Wdr78 UTSW 4 103049403 missense possibly damaging 0.87
R5290:Wdr78 UTSW 4 103049533 missense probably benign 0.00
R5465:Wdr78 UTSW 4 103049561 missense probably damaging 1.00
R5975:Wdr78 UTSW 4 103049589 missense probably benign 0.03
R6239:Wdr78 UTSW 4 103066443 missense probably benign
R6304:Wdr78 UTSW 4 103087356 missense probably benign 0.35
R6456:Wdr78 UTSW 4 103049549 missense probably benign 0.00
R6467:Wdr78 UTSW 4 103049561 missense probably damaging 1.00
R6813:Wdr78 UTSW 4 103048326 missense probably benign 0.26
R7161:Wdr78 UTSW 4 103096616 missense probably benign 0.28
R7198:Wdr78 UTSW 4 103062413 missense probably damaging 0.98
R7208:Wdr78 UTSW 4 103066352 missense probably benign 0.00
R7320:Wdr78 UTSW 4 103050187 missense possibly damaging 0.68
Posted On2013-12-03