Incidental Mutation 'R6352:Wdr74'
ID 513310
Institutional Source Beutler Lab
Gene Symbol Wdr74
Ensembl Gene ENSMUSG00000042729
Gene Name WD repeat domain 74
Synonyms 5730436H21Rik
MMRRC Submission 044504-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R6352 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 8713191-8717988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8716822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 200 (V200A)
Ref Sequence ENSEMBL: ENSMUSP00000147765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010254] [ENSMUST00000049424] [ENSMUST00000073430] [ENSMUST00000163172] [ENSMUST00000175872] [ENSMUST00000210512] [ENSMUST00000177373] [ENSMUST00000176013] [ENSMUST00000176314] [ENSMUST00000176381] [ENSMUST00000175901] [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: V244A

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000043315
Gene: ENSMUSG00000042729
AA Change: V244A

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: V200A

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
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: 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: 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 noncoding transcript
Transcript: ENSMUST00000187020
Predicted Effect probably benign
Transcript: ENSMUST00000177322
SMART Domains Protein: ENSMUSP00000135624
Gene: ENSMUSG00000010110

DomainStartEndE-ValueType
low complexity region 26 44 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176260
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183342
Predicted Effect probably benign
Transcript: ENSMUST00000210592
AA Change: V244A

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.1062 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 96% (48/50)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T C 17: 48,347,945 (GRCm39) S120G probably benign Het
Abca13 G A 11: 9,259,139 (GRCm39) probably null Het
Aco1 G A 4: 40,186,367 (GRCm39) R593Q probably benign Het
Adgra3 T A 5: 50,136,478 (GRCm39) D669V probably benign Het
Adgra3 T A 5: 50,147,592 (GRCm39) M483L probably benign Het
Ccdc42 T C 11: 68,485,191 (GRCm39) V88A probably damaging Het
Cdh16 G C 8: 105,343,624 (GRCm39) S624C probably damaging Het
Cpt1c A T 7: 44,616,219 (GRCm39) probably null Het
Cul9 T C 17: 46,822,241 (GRCm39) T1795A probably benign Het
Dnah2 C T 11: 69,339,053 (GRCm39) V3098I probably damaging Het
Fbxl16 T C 17: 26,037,919 (GRCm39) L426P probably damaging Het
Flt4 T C 11: 49,534,333 (GRCm39) I1168T probably benign Het
Fmo5 T C 3: 97,552,991 (GRCm39) V313A probably benign Het
Foxj3 A G 4: 119,442,975 (GRCm39) N133S probably damaging Het
Gbp8 T C 5: 105,162,926 (GRCm39) I489M possibly damaging Het
Gm10801 TC TCGAC 2: 98,494,151 (GRCm39) probably benign Het
Hdgfl1 T G 13: 26,953,733 (GRCm39) E113D probably benign Het
Heatr5a A T 12: 51,997,949 (GRCm39) S317T possibly damaging Het
Hycc2 A G 1: 58,596,471 (GRCm39) V38A probably damaging Het
Insr C T 8: 3,223,479 (GRCm39) probably null Het
Iqcf5 A G 9: 106,392,929 (GRCm39) E62G possibly damaging Het
Kcnj3 G A 2: 55,327,561 (GRCm39) V117I probably benign Het
Klf9 T A 19: 23,119,138 (GRCm39) M7K probably benign Het
Mboat1 G A 13: 30,386,403 (GRCm39) G139E possibly damaging Het
Mical3 T C 6: 120,929,434 (GRCm39) T1811A probably damaging Het
Mllt10 A C 2: 18,128,604 (GRCm39) K117T probably damaging Het
Mpped1 A G 15: 83,720,564 (GRCm39) D8G probably damaging Het
Myh4 A T 11: 67,143,108 (GRCm39) D1012V probably damaging Het
Myo9b C A 8: 71,801,054 (GRCm39) P1070T probably benign Het
Myo9b C T 8: 71,801,055 (GRCm39) P1071L probably benign Het
Nlrp1b T A 11: 71,072,527 (GRCm39) I439F probably damaging Het
Nlrp9a T A 7: 26,257,051 (GRCm39) I134N probably damaging Het
Nop2 C T 6: 125,114,170 (GRCm39) T212M probably benign Het
Notch4 T C 17: 34,786,435 (GRCm39) C188R probably damaging Het
Or10q12 A T 19: 13,745,828 (GRCm39) M41L probably benign Het
Or2ag19 G T 7: 106,444,429 (GRCm39) V204F probably damaging Het
Pgd C T 4: 149,245,209 (GRCm39) probably null Het
Plet1 T C 9: 50,412,407 (GRCm39) S142P probably damaging Het
Ptk7 A T 17: 46,887,816 (GRCm39) W539R probably benign Het
Ptprd A T 4: 76,009,789 (GRCm39) probably null Het
Rgs22 T G 15: 36,093,067 (GRCm39) Q402P probably damaging Het
Rpl10a T C 17: 28,549,820 (GRCm39) V167A possibly damaging Het
Sdr16c5 A G 4: 4,016,421 (GRCm39) S2P probably benign Het
Slc14a2 T C 18: 78,252,309 (GRCm39) M1V probably null Het
Spta1 T A 1: 174,039,212 (GRCm39) M1185K possibly damaging Het
Syde2 G T 3: 145,704,229 (GRCm39) E127* probably null Het
Thoc2l A G 5: 104,668,064 (GRCm39) E862G probably benign Het
Ugt2b38 T A 5: 87,571,860 (GRCm39) R57S possibly damaging Het
Wdr11 C T 7: 129,208,399 (GRCm39) L385F possibly damaging Het
Other mutations in Wdr74
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Wdr74 APN 19 8,716,830 (GRCm39) missense possibly damaging 0.58
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
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
Predicted Primers PCR Primer
(F):5'- GGTCCGTGTCTATGATCCAGTC -3'
(R):5'- GGCATGGGTGTTAGCTAACC -3'

Sequencing Primer
(F):5'- GTGTCTATGATCCAGTCTCCCC -3'
(R):5'- GCTAACCAGCCACTGAATATGTAG -3'
Posted On 2018-04-27