Incidental Mutation 'IGL02404:Daw1'
ID292005
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Daw1
Ensembl Gene ENSMUSG00000053161
Gene Namedynein assembly factor with WDR repeat domains 1
Synonymsb2b1116Clo, 4930563E19Rik, 4933429D11Rik, Wdr69
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.147) question?
Stock #IGL02404
Quality Score
Status
Chromosome1
Chromosomal Location83159752-83210574 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 83197231 bp
ZygosityHeterozygous
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]
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
2410089E03Rik T C 15: 8,187,284 I662T possibly damaging Het
Adcy6 T C 15: 98,596,938 I745V probably benign Het
Alppl2 A G 1: 87,088,863 V163A possibly damaging Het
Atad2b T A 12: 4,941,972 S190R probably benign Het
Cep68 A G 11: 20,240,004 V336A possibly damaging Het
Clcn4 A C 7: 7,287,858 N587K probably benign Het
Clic1 A G 17: 35,052,876 E82G probably damaging Het
Cnbd1 T C 4: 18,895,047 S232G possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dysf A G 6: 84,116,061 E1052G probably damaging Het
Gpr12 G A 5: 146,583,923 A63V probably damaging Het
Inmt C T 6: 55,171,110 R178Q possibly damaging Het
Metap1 A T 3: 138,489,308 C22S probably damaging Het
Mst1r A T 9: 107,913,067 probably benign Het
Olfr699 A C 7: 106,790,359 I214S probably damaging Het
Phkb T C 8: 85,878,115 S58P possibly damaging Het
Pigs T A 11: 78,340,031 I368N probably benign Het
Plekhm1 C T 11: 103,394,998 D204N probably benign Het
Pot1a A T 6: 25,764,432 probably benign Het
Rps4l A G 6: 148,354,779 probably benign Het
Scn8a T A 15: 101,039,730 M1660K probably damaging Het
Sec31b A C 19: 44,534,788 V23G probably damaging Het
Sorcs3 T C 19: 48,704,370 probably benign Het
Thap12 A G 7: 98,710,133 Y73C probably damaging Het
Thsd7b G A 1: 129,613,151 C254Y probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Ttn T A 2: 76,939,978 N2623I possibly damaging Het
Ulk1 A T 5: 110,796,234 probably null Het
Vps13d T C 4: 145,148,735 Y1734C probably damaging Het
Vsig10l A G 7: 43,463,747 D143G possibly damaging Het
Wac A G 18: 7,917,570 T347A probably damaging Het
Wdr62 G T 7: 30,267,873 R319S probably damaging Het
Zfp668 T C 7: 127,866,360 K551E probably damaging Het
Other mutations in Daw1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Daw1 APN 1 83197236 missense probably damaging 1.00
IGL00717:Daw1 APN 1 83198179 missense probably benign 0.03
IGL01320:Daw1 APN 1 83198180 missense possibly damaging 0.82
IGL01869:Daw1 APN 1 83182244 splice site probably benign
IGL02516:Daw1 APN 1 83209228 missense probably benign 0.03
IGL02608:Daw1 APN 1 83209334 nonsense probably null
IGL02992:Daw1 APN 1 83197213 splice site probably benign
IGL03015:Daw1 APN 1 83183382 splice site probably benign
IGL03099:Daw1 APN 1 83179367 critical splice donor site probably null
R0050:Daw1 UTSW 1 83180365 missense probably benign 0.01
R0631:Daw1 UTSW 1 83197260 missense probably damaging 1.00
R0711:Daw1 UTSW 1 83191338 splice site probably benign
R1420:Daw1 UTSW 1 83159827 missense possibly damaging 0.51
R1678:Daw1 UTSW 1 83183366 missense probably damaging 1.00
R1943:Daw1 UTSW 1 83209266 missense possibly damaging 0.91
R2006:Daw1 UTSW 1 83191345 missense probably damaging 1.00
R2191:Daw1 UTSW 1 83192663 missense probably benign 0.34
R4983:Daw1 UTSW 1 83187998 missense probably benign 0.38
R5129:Daw1 UTSW 1 83205903 missense probably damaging 0.99
R5282:Daw1 UTSW 1 83192698 missense probably benign
R6128:Daw1 UTSW 1 83205926 nonsense probably null
R7438:Daw1 UTSW 1 83192715 missense probably benign
Z1088:Daw1 UTSW 1 83205964 missense probably null 1.00
Posted On2015-04-16