Incidental Mutation 'IGL02699:Dnaaf5'
ID304082
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnaaf5
Ensembl Gene ENSMUSG00000025857
Gene Namedynein, axonemal assembly factor 5
SynonymsHeatr2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.205) question?
Stock #IGL02699
Quality Score
Status
Chromosome5
Chromosomal Location139150223-139186510 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 139153350 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026975] [ENSMUST00000155833] [ENSMUST00000196441]
Predicted Effect probably benign
Transcript: ENSMUST00000026975
SMART Domains Protein: ENSMUSP00000026975
Gene: ENSMUSG00000025857

DomainStartEndE-ValueType
low complexity region 2 32 N/A INTRINSIC
low complexity region 43 59 N/A INTRINSIC
low complexity region 73 83 N/A INTRINSIC
low complexity region 91 153 N/A INTRINSIC
low complexity region 162 175 N/A INTRINSIC
Pfam:Vac14_Fab1_bd 673 770 2.4e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130180
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151512
Predicted Effect probably benign
Transcript: ENSMUST00000155833
SMART Domains Protein: ENSMUSP00000122693
Gene: ENSMUSG00000025855

DomainStartEndE-ValueType
RIIa 25 62 3.14e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196441
SMART Domains Protein: ENSMUSP00000142924
Gene: ENSMUSG00000025857

DomainStartEndE-ValueType
Pfam:Vac14_Fab1_bd 378 475 4.1e-5 PFAM
Pfam:HEAT 447 477 1.7e-3 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T C 10: 77,322,019 D198G probably benign Het
Casq1 T C 1: 172,219,696 probably benign Het
Cd109 T A 9: 78,671,989 probably benign Het
Col15a1 T G 4: 47,284,471 probably benign Het
Ctdp1 T C 18: 80,450,185 D365G probably benign Het
Daam1 T C 12: 71,988,943 F971L probably damaging Het
Dalrd3 T A 9: 108,570,889 probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fbxo8 A G 8: 56,590,188 T236A possibly damaging Het
Ighv1-12 C A 12: 114,616,116 E29* probably null Het
Il17re A G 6: 113,468,919 D397G probably damaging Het
Ing5 A G 1: 93,816,442 N157D possibly damaging Het
Ipo11 T C 13: 106,889,397 E395G possibly damaging Het
Letm1 T C 5: 33,745,148 E599G possibly damaging Het
Mansc1 T C 6: 134,610,354 T287A probably benign Het
Med1 T C 11: 98,180,025 N131D possibly damaging Het
Olfr1085 A T 2: 86,658,347 I37N probably benign Het
Olfr1337 G T 4: 118,782,152 C144* probably null Het
Olfr1341 T C 4: 118,710,198 S264P probably benign Het
Olfr769 T G 10: 129,111,771 Y218S probably benign Het
Osm T C 11: 4,239,723 V169A possibly damaging Het
Phkg2 C T 7: 127,582,550 A278V probably benign Het
Plod2 T A 9: 92,607,142 M709K probably damaging Het
Pzp A T 6: 128,487,401 probably null Het
Ric1 T C 19: 29,522,557 L12P possibly damaging Het
Skor1 C A 9: 63,140,046 probably benign Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Syncrip A G 9: 88,456,554 probably benign Het
Tex2 T C 11: 106,568,433 E57G possibly damaging Het
Tmc1 C T 19: 20,832,350 probably null Het
Tmem59 T C 4: 107,192,538 M140T probably benign Het
Ttn T C 2: 76,944,089 T2158A probably damaging Het
Other mutations in Dnaaf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Dnaaf5 APN 5 139177946 missense probably benign 0.19
IGL00730:Dnaaf5 APN 5 139151668 critical splice donor site probably null
IGL01468:Dnaaf5 APN 5 139151480 splice site probably null
IGL02106:Dnaaf5 APN 5 139151513 missense probably damaging 1.00
IGL02273:Dnaaf5 APN 5 139177916 nonsense probably null
IGL02514:Dnaaf5 APN 5 139174117 splice site probably benign
IGL02572:Dnaaf5 APN 5 139184629 missense probably benign 0.00
PIT4142001:Dnaaf5 UTSW 5 139185518 missense possibly damaging 0.91
PIT4283001:Dnaaf5 UTSW 5 139166162 missense probably benign 0.26
R0458:Dnaaf5 UTSW 5 139161878 missense possibly damaging 0.47
R2060:Dnaaf5 UTSW 5 139178003 missense probably damaging 1.00
R2162:Dnaaf5 UTSW 5 139181565 missense possibly damaging 0.46
R3833:Dnaaf5 UTSW 5 139181565 missense possibly damaging 0.46
R3944:Dnaaf5 UTSW 5 139152924 start gained probably benign
R4438:Dnaaf5 UTSW 5 139163392 missense probably damaging 1.00
R4534:Dnaaf5 UTSW 5 139151527 nonsense probably null
R4576:Dnaaf5 UTSW 5 139185639 missense probably damaging 0.98
R4581:Dnaaf5 UTSW 5 139184685 missense probably damaging 1.00
R4715:Dnaaf5 UTSW 5 139178000 missense probably damaging 0.99
R4791:Dnaaf5 UTSW 5 139184650 missense possibly damaging 0.56
R4868:Dnaaf5 UTSW 5 139170186 missense probably benign 0.01
R5011:Dnaaf5 UTSW 5 139163257 missense probably damaging 1.00
R5074:Dnaaf5 UTSW 5 139174207 missense probably damaging 1.00
R5137:Dnaaf5 UTSW 5 139181460 missense probably damaging 1.00
R5215:Dnaaf5 UTSW 5 139161877 missense probably benign 0.00
R5309:Dnaaf5 UTSW 5 139152862 missense probably damaging 0.99
R5312:Dnaaf5 UTSW 5 139152862 missense probably damaging 0.99
R6632:Dnaaf5 UTSW 5 139170333 missense probably benign 0.04
R6863:Dnaaf5 UTSW 5 139151596 missense probably damaging 0.96
R7292:Dnaaf5 UTSW 5 139150317 missense unknown
R7439:Dnaaf5 UTSW 5 139166113 missense probably damaging 1.00
R7571:Dnaaf5 UTSW 5 139170208 missense possibly damaging 0.73
R7679:Dnaaf5 UTSW 5 139150637 missense unknown
R7706:Dnaaf5 UTSW 5 139152841 missense probably damaging 1.00
R7867:Dnaaf5 UTSW 5 139161810 missense probably damaging 1.00
R8191:Dnaaf5 UTSW 5 139181495 missense probably benign 0.06
X0020:Dnaaf5 UTSW 5 139163320 missense probably damaging 0.99
Z1177:Dnaaf5 UTSW 5 139177975 missense probably damaging 1.00
Z1177:Dnaaf5 UTSW 5 139185542 missense probably benign 0.04
Z1177:Dnaaf5 UTSW 5 139185585 missense probably damaging 1.00
Posted On2015-04-16