Incidental Mutation 'IGL02567:Wdr24'
ID298881
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr24
Ensembl Gene ENSMUSG00000025737
Gene NameWD repeat domain 24
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02567
Quality Score
Status
Chromosome17
Chromosomal Location25823627-25828730 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 25824348 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Serine at position 48 (I48S)
Ref Sequence ENSEMBL: ENSMUSP00000026833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026832] [ENSMUST00000026833] [ENSMUST00000045692] [ENSMUST00000123582] [ENSMUST00000133595]
Predicted Effect probably benign
Transcript: ENSMUST00000026832
SMART Domains Protein: ENSMUSP00000026832
Gene: ENSMUSG00000025736

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
JmjC 140 271 5.27e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000026833
AA Change: I48S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026833
Gene: ENSMUSG00000025737
AA Change: I48S

DomainStartEndE-ValueType
Blast:WD40 19 53 6e-8 BLAST
WD40 68 103 2.13e1 SMART
WD40 109 149 5.77e-5 SMART
WD40 152 192 4.48e-2 SMART
WD40 196 236 1.48e-11 SMART
WD40 244 282 1.66e0 SMART
WD40 286 327 2.48e0 SMART
low complexity region 605 623 N/A INTRINSIC
Blast:RING 743 780 2e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000045692
SMART Domains Protein: ENSMUSP00000048562
Gene: ENSMUSG00000025738

DomainStartEndE-ValueType
low complexity region 49 65 N/A INTRINSIC
low complexity region 70 89 N/A INTRINSIC
Blast:FBOX 98 137 2e-14 BLAST
LRR 241 266 1.32e1 SMART
LRR 267 291 1.61e2 SMART
LRR 293 318 1.76e2 SMART
LRR 319 344 3.21e-4 SMART
LRR 345 370 7.67e-2 SMART
LRR 371 396 6.13e-1 SMART
LRR 421 446 3.52e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123582
SMART Domains Protein: ENSMUSP00000119840
Gene: ENSMUSG00000025736

DomainStartEndE-ValueType
low complexity region 158 172 N/A INTRINSIC
low complexity region 194 208 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123692
Predicted Effect probably benign
Transcript: ENSMUST00000133595
SMART Domains Protein: ENSMUSP00000122744
Gene: ENSMUSG00000025736

DomainStartEndE-ValueType
transmembrane domain 55 74 N/A INTRINSIC
JmjC 185 316 5.27e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144589
Predicted Effect probably benign
Transcript: ENSMUST00000152434
SMART Domains Protein: ENSMUSP00000119378
Gene: ENSMUSG00000025736

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160349
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160829
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180868
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 C A 11: 53,372,751 S199R possibly damaging Het
Ano1 A G 7: 144,611,625 L621P probably damaging Het
Calcr C T 6: 3,691,564 V404M probably damaging Het
Carmil3 A G 14: 55,498,882 S635G possibly damaging Het
Ccl12 C A 11: 82,102,621 S28R possibly damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdhr3 T C 12: 33,038,901 N761D probably benign Het
Col14a1 T C 15: 55,344,961 probably null Het
Col28a1 T C 6: 8,014,819 K862R possibly damaging Het
Cyp2c66 C T 19: 39,186,640 probably benign Het
D5Ertd615e T C 5: 45,163,416 noncoding transcript Het
Deup1 T C 9: 15,575,283 E367G probably damaging Het
Dpp8 T G 9: 65,078,776 Y849* probably null Het
Efhc1 T A 1: 20,972,964 V369E probably damaging Het
Epg5 A G 18: 78,033,073 Y2562C probably damaging Het
Fam189a1 T A 7: 64,786,731 M101L possibly damaging Het
Fbln5 A G 12: 101,761,800 probably null Het
Frem1 A T 4: 83,000,055 M551K probably damaging Het
Gba2 T C 4: 43,567,281 S889G probably benign Het
Golph3 C T 15: 12,349,421 R176* probably null Het
Got2 A T 8: 95,872,201 F191Y probably benign Het
Gtf2ird2 G T 5: 134,213,048 probably benign Het
Hist4h4 G A 6: 136,804,274 R36W probably damaging Het
Hivep3 A G 4: 120,133,956 T2218A probably damaging Het
Htr1f C T 16: 64,926,248 G227D probably benign Het
Ifi202b C T 1: 173,963,804 S436N possibly damaging Het
Nf1 T A 11: 79,547,143 V2109D probably damaging Het
Opa1 C A 16: 29,588,286 D29E probably benign Het
Papln C T 12: 83,778,837 P631S probably benign Het
Pde4c T A 8: 70,747,921 M352K probably benign Het
Pigu T C 2: 155,331,192 T129A possibly damaging Het
Pla2g4c T A 7: 13,346,040 H424Q probably damaging Het
Ptpn13 T G 5: 103,562,291 L1564R probably damaging Het
Rbm5 T C 9: 107,744,274 D642G probably damaging Het
Rnf111 T C 9: 70,459,005 T384A probably damaging Het
Scn11a T C 9: 119,804,489 T393A probably damaging Het
Sned1 A T 1: 93,274,347 K619M probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Syt9 A G 7: 107,436,661 Y295C probably damaging Het
Taar7f T A 10: 24,050,425 Y306N probably damaging Het
Tmem107 T G 11: 69,071,019 L25V possibly damaging Het
Zc3hc1 T C 6: 30,374,849 D231G probably benign Het
Zfp142 T A 1: 74,578,147 S342C possibly damaging Het
Zfp142 T G 1: 74,578,149 K341T possibly damaging Het
Zfp142 T C 1: 74,578,150 K341E possibly damaging Het
Zfp804b T A 5: 6,769,989 I989L probably benign Het
Zfyve9 A C 4: 108,674,523 V1095G probably damaging Het
Other mutations in Wdr24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00942:Wdr24 APN 17 25826621 missense probably benign 0.20
IGL01700:Wdr24 APN 17 25825828 missense probably damaging 1.00
IGL01763:Wdr24 APN 17 25826190 missense probably benign 0.20
IGL03100:Wdr24 APN 17 25825707 missense possibly damaging 0.47
R0012:Wdr24 UTSW 17 25827113 missense probably benign
R0799:Wdr24 UTSW 17 25826128 missense probably damaging 1.00
R1015:Wdr24 UTSW 17 25828238 missense probably benign 0.12
R1276:Wdr24 UTSW 17 25827467 missense probably benign 0.02
R1297:Wdr24 UTSW 17 25827348 missense possibly damaging 0.90
R1934:Wdr24 UTSW 17 25824266 missense possibly damaging 0.89
R2030:Wdr24 UTSW 17 25826043 missense probably benign 0.38
R2069:Wdr24 UTSW 17 25826282 missense probably damaging 1.00
R2508:Wdr24 UTSW 17 25824299 missense possibly damaging 0.52
R4601:Wdr24 UTSW 17 25828207 unclassified probably null
R4604:Wdr24 UTSW 17 25828505 missense probably damaging 1.00
R4894:Wdr24 UTSW 17 25826127 missense probably damaging 1.00
R5068:Wdr24 UTSW 17 25825779 missense possibly damaging 0.77
R5088:Wdr24 UTSW 17 25828207 unclassified probably null
R5104:Wdr24 UTSW 17 25824591 missense probably damaging 1.00
R5498:Wdr24 UTSW 17 25824561 missense probably damaging 1.00
R5719:Wdr24 UTSW 17 25828340 critical splice donor site probably null
R5892:Wdr24 UTSW 17 25827986 missense probably benign 0.00
R5975:Wdr24 UTSW 17 25827128 missense probably benign 0.37
R6084:Wdr24 UTSW 17 25824530 missense probably damaging 0.99
R6106:Wdr24 UTSW 17 25824605 missense probably benign
R6114:Wdr24 UTSW 17 25824605 missense probably benign
R6116:Wdr24 UTSW 17 25824605 missense probably benign
R6165:Wdr24 UTSW 17 25826421 missense probably benign 0.18
R6175:Wdr24 UTSW 17 25826578 missense probably damaging 1.00
R6331:Wdr24 UTSW 17 25825676 missense possibly damaging 0.61
R6548:Wdr24 UTSW 17 25827925 missense probably damaging 0.99
R6984:Wdr24 UTSW 17 25828235 missense possibly damaging 0.93
R7485:Wdr24 UTSW 17 25826127 missense probably damaging 1.00
X0022:Wdr24 UTSW 17 25824272 missense probably damaging 0.99
Posted On2015-04-16