Incidental Mutation 'IGL00579:Wdr74'
ID 5689
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 # IGL00579
Quality Score
Status
Chromosome 19
Chromosomal Location 8713191-8717988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8716830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 247 (T247A)
Ref Sequence ENSEMBL: ENSMUSP00000147758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010254] [ENSMUST00000049424] [ENSMUST00000073430] [ENSMUST00000163172] [ENSMUST00000175872] [ENSMUST00000210512] [ENSMUST00000177373] [ENSMUST00000176314] [ENSMUST00000176381] [ENSMUST00000175901] [ENSMUST00000176013] [ENSMUST00000177322] [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 probably benign
Transcript: ENSMUST00000049424
AA Change: T247A

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000043315
Gene: ENSMUSG00000042729
AA Change: T247A

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 probably benign
Transcript: ENSMUST00000210512
AA Change: T203A

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187020
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183342
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176260
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: 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 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: ENSMUST00000177322
SMART Domains Protein: ENSMUSP00000135624
Gene: ENSMUSG00000010110

DomainStartEndE-ValueType
low complexity region 26 44 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000210592
AA Change: T247A

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 T C 5: 24,773,794 (GRCm39) E365G possibly damaging Het
Adamts12 T C 15: 11,152,100 (GRCm39) Y197H probably benign Het
Cept1 A T 3: 106,413,119 (GRCm39) V202E possibly damaging Het
Cfap53 A T 18: 74,438,611 (GRCm39) K263* probably null Het
Dennd3 T C 15: 73,412,691 (GRCm39) I451T possibly damaging Het
Dync2h1 A C 9: 7,035,728 (GRCm39) probably benign Het
Egf T A 3: 129,491,447 (GRCm39) H850L probably benign Het
Gm11595 T C 11: 99,662,868 (GRCm39) T271A unknown Het
Gorab T C 1: 163,222,256 (GRCm39) E142G probably damaging Het
Gpat4 A G 8: 23,672,791 (GRCm39) S20P probably damaging Het
Gpr83 T C 9: 14,771,897 (GRCm39) V23A probably benign Het
Il13ra2 A G X: 146,177,386 (GRCm39) Y146H probably damaging Het
Kcnj16 C T 11: 110,916,034 (GRCm39) T232M probably benign Het
Mdfic A T 6: 15,741,073 (GRCm39) I61F possibly damaging Het
Mmp3 G T 9: 7,445,894 (GRCm39) probably benign Het
Olr1 C T 6: 129,470,486 (GRCm39) R227K probably benign Het
Otof T A 5: 30,556,666 (GRCm39) I257F possibly damaging Het
Oxsr1 T A 9: 119,088,277 (GRCm39) R43S probably damaging Het
Pacc1 T C 1: 191,060,405 (GRCm39) V21A unknown Het
Prkdc A G 16: 15,482,103 (GRCm39) D382G probably damaging Het
Slc35b2 G T 17: 45,875,886 (GRCm39) V81L probably damaging Het
Thumpd3 G A 6: 113,024,622 (GRCm39) R72H possibly damaging Het
Tsga10 G A 1: 37,874,534 (GRCm39) T117I probably damaging Het
Vps13a T A 19: 16,684,726 (GRCm39) T953S probably benign Het
Wdr62 A C 7: 29,967,320 (GRCm39) C311W probably damaging Het
Zbtb26 A T 2: 37,326,454 (GRCm39) V194D possibly damaging Het
Zfp639 A T 3: 32,574,626 (GRCm39) E417V probably damaging Het
Other mutations in Wdr74
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01832:Wdr74 APN 19 8,717,302 (GRCm39) missense probably damaging 0.99
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 2012-04-20