Incidental Mutation 'IGL01320:Daw1'
ID74017
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: 0.121) question?
Stock #IGL01320
Quality Score
Status
Chromosome1
Chromosomal Location83159752-83210574 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 83198180 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 213 (I213T)
Ref Sequence ENSEMBL: ENSMUSP00000109063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065403] [ENSMUST00000065436] [ENSMUST00000113436] [ENSMUST00000149342]
Predicted Effect possibly damaging
Transcript: ENSMUST00000065403
AA Change: I318T

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000067583
Gene: ENSMUSG00000053161
AA Change: I318T

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 possibly damaging
Transcript: ENSMUST00000065436
AA Change: I213T

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000067102
Gene: ENSMUSG00000053161
AA Change: I213T

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 possibly damaging
Transcript: ENSMUST00000113436
AA Change: I213T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109063
Gene: ENSMUSG00000053161
AA Change: I213T

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
A2ml1 T C 6: 128,575,588 E229G probably benign Het
Abca16 T A 7: 120,439,199 L368Q probably damaging Het
Ankrd17 A T 5: 90,260,129 S1410T probably damaging Het
Arntl T C 7: 113,303,407 I421T probably damaging Het
Asb8 A G 15: 98,141,278 probably benign Het
Chrdl2 A G 7: 100,017,041 Y56C probably damaging Het
Crnn T C 3: 93,148,212 S102P probably damaging Het
Cyb5a T C 18: 84,879,523 I115T probably damaging Het
Dcp1b T A 6: 119,215,075 S317R probably benign Het
Dnah7a T C 1: 53,434,046 M3474V probably benign Het
E2f7 G A 10: 110,754,093 V36I probably benign Het
Esrp1 A G 4: 11,384,374 I103T possibly damaging Het
Hap1 G A 11: 100,349,380 T530I probably damaging Het
Hps3 T C 3: 20,030,469 N185S probably benign Het
Klra1 T A 6: 130,364,261 I250F probably benign Het
Lipn A G 19: 34,084,640 T332A probably benign Het
Ltbp4 A G 7: 27,328,359 probably benign Het
Ncor2 A G 5: 125,109,927 V11A probably benign Het
Nipsnap2 C T 5: 129,744,764 T108M probably damaging Het
Olfr153 T A 2: 87,532,285 M84K probably benign Het
Olfr479 A G 7: 108,054,981 probably benign Het
Ppid A G 3: 79,595,277 E46G probably damaging Het
Rrp12 A G 19: 41,877,936 L626P probably damaging Het
Slc6a15 A T 10: 103,404,745 I410F probably benign Het
Sorcs1 A G 19: 50,288,079 probably benign Het
Src G A 2: 157,469,503 G461R probably damaging Het
St8sia5 A T 18: 77,254,622 T307S probably damaging Het
Stac2 T C 11: 98,040,095 probably null Het
Tiam2 T C 17: 3,505,745 L77P probably damaging Het
Tmem87b G T 2: 128,831,216 G190V probably damaging Het
Trav7-6 T C 14: 53,717,108 S32P possibly damaging Het
Unc45b A G 11: 82,912,393 probably null Het
Wnt1 C A 15: 98,792,523 D244E possibly 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
IGL01869:Daw1 APN 1 83182244 splice site probably benign
IGL02404:Daw1 APN 1 83197231 missense probably benign 0.15
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 On2013-10-07