Incidental Mutation 'IGL02404:Daw1'
ID 292005
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Daw1
Ensembl Gene ENSMUSG00000053161
Gene Name dynein assembly factor with WDR repeat domains 1
Synonyms b2b1584Clo, Wdr69, b2b1116Clo, 4933429D11Rik, 4930563E19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # IGL02404
Quality Score
Status
Chromosome 1
Chromosomal Location 83137473-83188295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83174952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 151 (T151A)
Ref Sequence ENSEMBL: ENSMUSP00000109063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065403] [ENSMUST00000065436] [ENSMUST00000113436] [ENSMUST00000149342]
AlphaFold D3Z7A5
Predicted Effect probably benign
Transcript: ENSMUST00000065403
AA Change: T256A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000067583
Gene: ENSMUSG00000053161
AA Change: T256A

DomainStartEndE-ValueType
WD40 81 120 1.17e-5 SMART
WD40 123 163 1.14e-8 SMART
WD40 166 205 1.95e-11 SMART
WD40 208 247 3.47e-8 SMART
WD40 250 289 2.98e-7 SMART
WD40 292 331 1.51e-8 SMART
WD40 334 373 4.87e-12 SMART
WD40 376 415 5.14e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000065436
AA Change: T151A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000067102
Gene: ENSMUSG00000053161
AA Change: T151A

DomainStartEndE-ValueType
WD40 81 120 1.17e-5 SMART
WD40 145 184 3.37e-6 SMART
WD40 187 226 1.51e-8 SMART
WD40 229 268 4.87e-12 SMART
WD40 271 310 5.14e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113436
AA Change: T151A

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109063
Gene: ENSMUSG00000053161
AA Change: T151A

DomainStartEndE-ValueType
WD40 81 120 1.17e-5 SMART
WD40 145 184 3.37e-6 SMART
WD40 187 226 1.51e-8 SMART
WD40 229 268 4.87e-12 SMART
WD40 271 317 7.99e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149342
SMART Domains Protein: ENSMUSP00000117796
Gene: ENSMUSG00000053161

DomainStartEndE-ValueType
low complexity region 36 48 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an induced mutation exhibit dextrocardia associated with situs inversus totalis, overriding aorta, ventricular septal defects, and dual inferior vena cava as well as dextrogastria, hypoplastic spleen, inverted liver, lung lobation/isomerism and dyskinetic/immotile airway cilia [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 T C 15: 98,494,819 (GRCm39) I745V probably benign Het
Alppl2 A G 1: 87,016,585 (GRCm39) V163A possibly damaging Het
Atad2b T A 12: 4,991,972 (GRCm39) S190R probably benign Het
Cep68 A G 11: 20,190,004 (GRCm39) V336A possibly damaging Het
Clcn4 A C 7: 7,290,857 (GRCm39) N587K probably benign Het
Clic1 A G 17: 35,271,852 (GRCm39) E82G probably damaging Het
Cnbd1 T C 4: 18,895,047 (GRCm39) S232G possibly damaging Het
Cplane1 T C 15: 8,216,768 (GRCm39) I662T possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dysf A G 6: 84,093,043 (GRCm39) E1052G probably damaging Het
Gpr12 G A 5: 146,520,733 (GRCm39) A63V probably damaging Het
Inmt C T 6: 55,148,095 (GRCm39) R178Q possibly damaging Het
Metap1 A T 3: 138,195,069 (GRCm39) C22S probably damaging Het
Mst1r A T 9: 107,790,266 (GRCm39) probably benign Het
Or2ag17 A C 7: 106,389,566 (GRCm39) I214S probably damaging Het
Phkb T C 8: 86,604,744 (GRCm39) S58P possibly damaging Het
Pigs T A 11: 78,230,857 (GRCm39) I368N probably benign Het
Plekhm1 C T 11: 103,285,824 (GRCm39) D204N probably benign Het
Pot1a A T 6: 25,764,431 (GRCm39) probably benign Het
Rps4l A G 6: 148,256,277 (GRCm39) probably benign Het
Scn8a T A 15: 100,937,611 (GRCm39) M1660K probably damaging Het
Sec31b A C 19: 44,523,227 (GRCm39) V23G probably damaging Het
Sorcs3 T C 19: 48,692,809 (GRCm39) probably benign Het
Thap12 A G 7: 98,359,340 (GRCm39) Y73C probably damaging Het
Thsd7b G A 1: 129,540,888 (GRCm39) C254Y probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Ttn T A 2: 76,770,322 (GRCm39) N2623I possibly damaging Het
Ulk1 A T 5: 110,944,100 (GRCm39) probably null Het
Vps13d T C 4: 144,875,305 (GRCm39) Y1734C probably damaging Het
Vsig10l A G 7: 43,113,171 (GRCm39) D143G possibly damaging Het
Wac A G 18: 7,917,570 (GRCm39) T347A probably damaging Het
Wdr62 G T 7: 29,967,298 (GRCm39) R319S probably damaging Het
Zfp668 T C 7: 127,465,532 (GRCm39) K551E probably damaging Het
Other mutations in Daw1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Daw1 APN 1 83,174,957 (GRCm39) missense probably damaging 1.00
IGL00717:Daw1 APN 1 83,175,900 (GRCm39) missense probably benign 0.03
IGL01320:Daw1 APN 1 83,175,901 (GRCm39) missense possibly damaging 0.82
IGL01869:Daw1 APN 1 83,159,965 (GRCm39) splice site probably benign
IGL02516:Daw1 APN 1 83,186,949 (GRCm39) missense probably benign 0.03
IGL02608:Daw1 APN 1 83,187,055 (GRCm39) nonsense probably null
IGL02992:Daw1 APN 1 83,174,934 (GRCm39) splice site probably benign
IGL03015:Daw1 APN 1 83,161,103 (GRCm39) splice site probably benign
IGL03099:Daw1 APN 1 83,157,088 (GRCm39) critical splice donor site probably null
R0050:Daw1 UTSW 1 83,158,086 (GRCm39) missense probably benign 0.01
R0631:Daw1 UTSW 1 83,174,981 (GRCm39) missense probably damaging 1.00
R0711:Daw1 UTSW 1 83,169,059 (GRCm39) splice site probably benign
R1420:Daw1 UTSW 1 83,137,548 (GRCm39) missense possibly damaging 0.51
R1678:Daw1 UTSW 1 83,161,087 (GRCm39) missense probably damaging 1.00
R1943:Daw1 UTSW 1 83,186,987 (GRCm39) missense possibly damaging 0.91
R2006:Daw1 UTSW 1 83,169,066 (GRCm39) missense probably damaging 1.00
R2191:Daw1 UTSW 1 83,170,384 (GRCm39) missense probably benign 0.34
R4983:Daw1 UTSW 1 83,165,719 (GRCm39) missense probably benign 0.38
R5129:Daw1 UTSW 1 83,183,624 (GRCm39) missense probably damaging 0.99
R5282:Daw1 UTSW 1 83,170,419 (GRCm39) missense probably benign
R6128:Daw1 UTSW 1 83,183,647 (GRCm39) nonsense probably null
R7438:Daw1 UTSW 1 83,170,436 (GRCm39) missense probably benign
R8888:Daw1 UTSW 1 83,187,011 (GRCm39) missense probably damaging 0.99
R8895:Daw1 UTSW 1 83,187,011 (GRCm39) missense probably damaging 0.99
R8900:Daw1 UTSW 1 83,175,898 (GRCm39) missense probably benign 0.00
R8901:Daw1 UTSW 1 83,183,643 (GRCm39) missense possibly damaging 0.70
Z1088:Daw1 UTSW 1 83,183,685 (GRCm39) missense probably null 1.00
Z1176:Daw1 UTSW 1 83,186,976 (GRCm39) missense probably damaging 1.00
Z1176:Daw1 UTSW 1 83,161,021 (GRCm39) missense probably damaging 1.00
Z1176:Daw1 UTSW 1 83,158,112 (GRCm39) missense probably damaging 0.99
Z1177:Daw1 UTSW 1 83,187,935 (GRCm39) missense unknown
Posted On 2015-04-16