Incidental Mutation 'IGL01832:Wdr74'
ID 154803
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr74
Ensembl Gene ENSMUSG00000042729
Gene Name WD repeat domain 74
Synonyms 5730436H21Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # IGL01832
Quality Score
Status
Chromosome 19
Chromosomal Location 8713191-8717988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 8717302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 299 (R299C)
Ref Sequence ENSEMBL: ENSMUSP00000147758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010254] [ENSMUST00000049424] [ENSMUST00000073430] [ENSMUST00000163172] [ENSMUST00000175872] [ENSMUST00000210512] [ENSMUST00000177373] [ENSMUST00000176314] [ENSMUST00000177322] [ENSMUST00000176013] [ENSMUST00000176381] [ENSMUST00000175901] [ENSMUST00000210592]
AlphaFold Q8VCG3
Predicted Effect probably benign
Transcript: ENSMUST00000010254
SMART Domains Protein: ENSMUSP00000010254
Gene: ENSMUSG00000010110

DomainStartEndE-ValueType
low complexity region 26 44 N/A INTRINSIC
Pfam:Syntaxin-5_N 52 74 1.5e-15 PFAM
SCOP:d1fioa_ 92 298 7e-36 SMART
Blast:t_SNARE 258 304 9e-22 BLAST
low complexity region 346 376 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000049424
AA Change: R299C

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043315
Gene: ENSMUSG00000042729
AA Change: R299C

DomainStartEndE-ValueType
WD40 32 71 9.94e-1 SMART
Blast:WD40 76 113 1e-16 BLAST
WD40 120 159 1.85e0 SMART
Blast:WD40 175 211 2e-16 BLAST
Blast:WD40 214 255 2e-14 BLAST
WD40 258 297 2.8e-3 SMART
low complexity region 326 341 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073430
SMART Domains Protein: ENSMUSP00000073136
Gene: ENSMUSG00000010110

DomainStartEndE-ValueType
low complexity region 26 44 N/A INTRINSIC
Pfam:Syntaxin 90 194 1e-15 PFAM
t_SNARE 258 325 4.33e-15 SMART
transmembrane domain 334 353 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163172
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175642
Predicted Effect probably benign
Transcript: ENSMUST00000175872
SMART Domains Protein: ENSMUSP00000135416
Gene: ENSMUSG00000010110

DomainStartEndE-ValueType
low complexity region 26 44 N/A INTRINSIC
Pfam:Syntaxin 90 194 2.7e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000210512
AA Change: R255C

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183342
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176260
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187020
Predicted Effect probably benign
Transcript: ENSMUST00000177373
SMART Domains Protein: ENSMUSP00000134794
Gene: ENSMUSG00000010110

DomainStartEndE-ValueType
Pfam:Syntaxin 1 98 5.2e-15 PFAM
t_SNARE 162 229 4.33e-15 SMART
transmembrane domain 238 257 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176314
SMART Domains Protein: ENSMUSP00000135348
Gene: ENSMUSG00000010110

DomainStartEndE-ValueType
low complexity region 26 44 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177322
SMART Domains Protein: ENSMUSP00000135624
Gene: ENSMUSG00000010110

DomainStartEndE-ValueType
low complexity region 26 44 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176013
SMART Domains Protein: ENSMUSP00000135465
Gene: ENSMUSG00000010110

DomainStartEndE-ValueType
low complexity region 26 44 N/A INTRINSIC
Pfam:Syntaxin 90 143 3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176381
SMART Domains Protein: ENSMUSP00000134854
Gene: ENSMUSG00000010110

DomainStartEndE-ValueType
low complexity region 26 44 N/A INTRINSIC
Pfam:Syntaxin 90 194 1e-15 PFAM
t_SNARE 258 325 4.33e-15 SMART
transmembrane domain 334 353 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175901
SMART Domains Protein: ENSMUSP00000134951
Gene: ENSMUSG00000010110

DomainStartEndE-ValueType
low complexity region 26 44 N/A INTRINSIC
Pfam:Syntaxin 90 194 4e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000210592
AA Change: R299C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 G A 8: 77,985,758 (GRCm39) T681I probably benign Het
Atg4b T C 1: 93,713,626 (GRCm39) probably benign Het
Atp10b T A 11: 43,125,262 (GRCm39) M1076K probably damaging Het
Atp23 A T 10: 126,730,214 (GRCm39) N111K probably damaging Het
Atxn2 C A 5: 121,944,331 (GRCm39) Y72* probably null Het
C1qtnf12 A G 4: 156,050,323 (GRCm39) D220G probably damaging Het
C2cd3 A T 7: 100,076,421 (GRCm39) T1171S possibly damaging Het
Ccdc15 G A 9: 37,222,640 (GRCm39) R585W probably damaging Het
Cep152 A C 2: 125,460,414 (GRCm39) Y179* probably null Het
Cpa2 T C 6: 30,551,998 (GRCm39) S242P probably benign Het
Ctps2 G T X: 161,719,699 (GRCm39) probably benign Het
Cttnbp2nl A G 3: 104,918,544 (GRCm39) S99P probably damaging Het
Ddx20 A G 3: 105,586,327 (GRCm39) S673P probably damaging Het
Erbb4 T C 1: 68,293,725 (GRCm39) K722R possibly damaging Het
Ercc8 A G 13: 108,305,993 (GRCm39) T123A probably damaging Het
Ermard T C 17: 15,280,111 (GRCm39) V87A probably damaging Het
Fkbp8 A G 8: 70,984,195 (GRCm39) H182R probably benign Het
Gab2 T C 7: 96,953,445 (GRCm39) L606P probably damaging Het
Gls C T 1: 52,207,568 (GRCm39) probably null Het
Hook3 A T 8: 26,562,393 (GRCm39) M224K possibly damaging Het
Itga5 T A 15: 103,264,376 (GRCm39) K298* probably null Het
Itprid2 G A 2: 79,481,762 (GRCm39) V481M possibly damaging Het
Lrrc74a C A 12: 86,808,488 (GRCm39) T422K probably benign Het
Myh9 A C 15: 77,675,953 (GRCm39) D244E probably benign Het
Ndrg4 A G 8: 96,439,947 (GRCm39) E349G probably damaging Het
Or9m2 T A 2: 87,820,513 (GRCm39) D19E probably benign Het
Otop2 T C 11: 115,217,769 (GRCm39) S202P probably benign Het
Plppr2 C A 9: 21,854,742 (GRCm39) R138S possibly damaging Het
Prkaca A C 8: 84,717,366 (GRCm39) K206N probably damaging Het
Ptpro C T 6: 137,370,666 (GRCm39) T589I possibly damaging Het
Ptprq A G 10: 107,401,700 (GRCm39) probably null Het
Slc16a5 T C 11: 115,355,827 (GRCm39) V96A probably benign Het
Tcerg1 A G 18: 42,707,620 (GRCm39) K1047E probably damaging Het
Tinag T C 9: 76,939,038 (GRCm39) K147E probably benign Het
Urgcp T C 11: 5,667,325 (GRCm39) T338A probably damaging Het
Zzef1 C T 11: 72,765,892 (GRCm39) S1473L probably damaging Het
Other mutations in Wdr74
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Wdr74 APN 19 8,716,830 (GRCm39) missense possibly damaging 0.58
IGL03051:Wdr74 APN 19 8,716,875 (GRCm39) splice site probably benign
R1456:Wdr74 UTSW 19 8,717,776 (GRCm39) missense probably benign 0.00
R1481:Wdr74 UTSW 19 8,715,592 (GRCm39) missense possibly damaging 0.93
R1932:Wdr74 UTSW 19 8,715,311 (GRCm39) missense probably benign 0.00
R4876:Wdr74 UTSW 19 8,716,849 (GRCm39) missense possibly damaging 0.95
R5643:Wdr74 UTSW 19 8,715,240 (GRCm39) missense probably damaging 1.00
R5644:Wdr74 UTSW 19 8,715,240 (GRCm39) missense probably damaging 1.00
R5927:Wdr74 UTSW 19 8,717,197 (GRCm39) missense possibly damaging 0.65
R6352:Wdr74 UTSW 19 8,716,822 (GRCm39) missense possibly damaging 0.71
R6735:Wdr74 UTSW 19 8,713,586 (GRCm39) missense possibly damaging 0.89
R7516:Wdr74 UTSW 19 8,713,554 (GRCm39) nonsense probably null
R8510:Wdr74 UTSW 19 8,715,274 (GRCm39) missense probably benign 0.08
R9086:Wdr74 UTSW 19 8,713,358 (GRCm39) missense possibly damaging 0.88
R9193:Wdr74 UTSW 19 8,715,240 (GRCm39) missense probably damaging 1.00
Z1176:Wdr74 UTSW 19 8,716,661 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04