Incidental Mutation 'IGL02608:Daw1'
ID 300358
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 # IGL02608
Quality Score
Status
Chromosome 1
Chromosomal Location 83137473-83188295 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 83187055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 288 (C288*)
Ref Sequence ENSEMBL: ENSMUSP00000109063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065403] [ENSMUST00000065436] [ENSMUST00000113436] [ENSMUST00000149342]
AlphaFold D3Z7A5
Predicted Effect probably null
Transcript: ENSMUST00000065403
AA Change: C393*
SMART Domains Protein: ENSMUSP00000067583
Gene: ENSMUSG00000053161
AA Change: C393*

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 null
Transcript: ENSMUST00000065436
AA Change: C288*
SMART Domains Protein: ENSMUSP00000067102
Gene: ENSMUSG00000053161
AA Change: C288*

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 null
Transcript: ENSMUST00000113436
AA Change: C288*
SMART Domains Protein: ENSMUSP00000109063
Gene: ENSMUSG00000053161
AA Change: C288*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178732
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas T A 15: 102,247,627 (GRCm39) M415L probably benign Het
Akap6 T C 12: 53,057,389 (GRCm39) S952P probably benign Het
Aldh3a1 A G 11: 61,107,147 (GRCm39) R284G probably damaging Het
Aldh3b1 G T 19: 3,964,061 (GRCm39) H414N probably damaging Het
Chd5 G A 4: 152,440,564 (GRCm39) M141I possibly damaging Het
Cntn2 C T 1: 132,453,654 (GRCm39) A340T possibly damaging Het
Dcn A G 10: 97,319,319 (GRCm39) E32G probably damaging Het
Dock5 C T 14: 68,065,888 (GRCm39) V372M probably benign Het
Etf1 T C 18: 35,064,670 (GRCm39) E13G probably damaging Het
Filip1l A G 16: 57,392,469 (GRCm39) E781G probably benign Het
Gucy1a2 A G 9: 3,635,113 (GRCm39) I386V probably damaging Het
Gvin-ps5 T A 7: 105,928,876 (GRCm39) noncoding transcript Het
Hoxb5 T A 11: 96,195,969 (GRCm39) probably benign Het
Iqch T A 9: 63,329,110 (GRCm39) probably benign Het
Itgal C T 7: 126,909,416 (GRCm39) P423S probably damaging Het
Kti12 T G 4: 108,705,359 (GRCm39) L91R probably damaging Het
Lgals3 T C 14: 47,623,058 (GRCm39) M239T probably benign Het
Lrrc8a T C 2: 30,146,311 (GRCm39) M375T possibly damaging Het
Ly75 T C 2: 60,152,244 (GRCm39) E1103G probably benign Het
Lyst A T 13: 13,887,339 (GRCm39) E3056V probably damaging Het
Map3k7 T C 4: 31,981,452 (GRCm39) probably benign Het
Ncor1 G A 11: 62,264,040 (GRCm39) T180I probably benign Het
Nectin4 T C 1: 171,212,341 (GRCm39) V313A probably benign Het
Nol4l A G 2: 153,278,213 (GRCm39) S8P possibly damaging Het
Npas2 T A 1: 39,384,527 (GRCm39) S607T probably benign Het
Nup155 T A 15: 8,138,955 (GRCm39) M9K probably benign Het
Nwd1 T C 8: 73,394,003 (GRCm39) L422P probably damaging Het
Or14j3 T A 17: 37,901,110 (GRCm39) I45F probably damaging Het
Papola G T 12: 105,775,818 (GRCm39) G245C probably damaging Het
Pcdhb6 T C 18: 37,467,747 (GRCm39) S223P probably damaging Het
Pdcd4 T C 19: 53,915,638 (GRCm39) probably null Het
Pigg T C 5: 108,460,869 (GRCm39) F27L probably damaging Het
Prpf40a A T 2: 53,036,165 (GRCm39) M588K probably damaging Het
Psme4 A G 11: 30,770,944 (GRCm39) N764S probably benign Het
Ptar1 A C 19: 23,683,076 (GRCm39) E110A possibly damaging Het
Rbm12 A T 2: 155,937,818 (GRCm39) probably benign Het
Rfx7 A G 9: 72,524,576 (GRCm39) T589A probably benign Het
Rpl21-ps4 G T 14: 11,227,831 (GRCm38) noncoding transcript Het
Rpp38 T C 2: 3,330,198 (GRCm39) T235A probably benign Het
Sbno2 A T 10: 79,903,236 (GRCm39) probably null Het
Scn3a A T 2: 65,354,510 (GRCm39) C337* probably null Het
Sec61a2 T C 2: 5,879,073 (GRCm39) T312A probably benign Het
Snrpg C A 6: 86,353,550 (GRCm39) D43E probably damaging Het
Stag1 A T 9: 100,639,822 (GRCm39) Q126L probably null Het
Taar6 A G 10: 23,861,081 (GRCm39) V155A probably benign Het
Tet1 G A 10: 62,715,388 (GRCm39) H136Y possibly damaging Het
Tet1 C A 10: 62,674,866 (GRCm39) S1070I probably damaging Het
Tfcp2 T C 15: 100,411,991 (GRCm39) T327A possibly damaging Het
Tnfrsf13c C T 15: 82,107,364 (GRCm39) V144M probably damaging Het
Tnfrsf22 T A 7: 143,198,533 (GRCm39) K61* probably null Het
Trhr T C 15: 44,061,074 (GRCm39) V198A probably benign Het
Trp53inp2 A G 2: 155,228,569 (GRCm39) R175G probably damaging Het
Try10 G A 6: 41,332,421 (GRCm39) G26R probably damaging Het
Vmn1r205 A G 13: 22,776,370 (GRCm39) V244A probably damaging Het
Wrnip1 T A 13: 32,990,857 (GRCm39) L372H probably damaging Het
Zfp280d T A 9: 72,215,261 (GRCm39) L149Q probably damaging Het
Zfp445 A G 9: 122,690,940 (GRCm39) V85A 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
IGL02404:Daw1 APN 1 83,174,952 (GRCm39) missense probably benign 0.15
IGL02516:Daw1 APN 1 83,186,949 (GRCm39) missense probably benign 0.03
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