Incidental Mutation 'IGL00508:Dnaaf5'
ID6384
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: 0.247) question?
Stock #IGL00508
Quality Score
Status
Chromosome5
Chromosomal Location139150223-139186510 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 139177946 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 653 (N653D)
Ref Sequence ENSEMBL: ENSMUSP00000026975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026975] [ENSMUST00000196441]
Predicted Effect probably benign
Transcript: ENSMUST00000026975
AA Change: N653D

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000026975
Gene: ENSMUSG00000025857
AA Change: N653D

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: ENSMUST00000127542
Predicted Effect probably benign
Transcript: ENSMUST00000196441
AA Change: N358D

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000142924
Gene: ENSMUSG00000025857
AA Change: N358D

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A C 13: 81,506,187 D2188E probably damaging Het
Atrx A G X: 105,823,799 S2026P probably damaging Het
Cacna1b A C 2: 24,657,289 probably null Het
Cfap46 C T 7: 139,660,689 S56N probably damaging Het
Cfap57 C T 4: 118,581,170 probably null Het
Ckap5 T G 2: 91,606,256 V1567G probably damaging Het
Cyp2c38 A T 19: 39,460,725 Y61* probably null Het
D130052B06Rik A G 11: 33,599,402 E7G unknown Het
Dhx38 A G 8: 109,556,934 L527P possibly damaging Het
Dnah8 T G 17: 30,855,930 M4541R probably damaging Het
Dpyd A T 3: 119,064,987 T617S probably benign Het
Fpr2 A T 17: 17,892,772 N10I probably damaging Het
Frmd4a A T 2: 4,594,734 K524* probably null Het
Gpr45 C T 1: 43,032,292 P32S possibly damaging Het
H2-Eb2 A T 17: 34,334,367 I176F probably damaging Het
Hcrtr1 T A 4: 130,137,269 N74I probably damaging Het
Ifi47 C T 11: 49,095,414 Q3* probably null Het
Krt8 T A 15: 101,998,025 M350L probably benign Het
Lilra6 A G 7: 3,911,554 S533P probably benign Het
Map1b A T 13: 99,429,233 S2327T unknown Het
Mcoln3 T A 3: 146,133,928 I345N probably damaging Het
Mettl3 C A 14: 52,294,979 probably benign Het
Mgat4a G A 1: 37,449,123 R472* probably null Het
Micall1 A G 15: 79,130,568 K715E probably damaging Het
Pak1 G T 7: 97,854,568 G37C probably benign Het
Pomt2 T G 12: 87,119,627 H426P probably damaging Het
Pou2f3 G A 9: 43,139,963 P155S probably benign Het
Psg25 A G 7: 18,529,731 Y56H probably benign Het
Rab9 G T X: 166,457,864 Y150* probably null Het
Rhox2g T A X: 37,642,810 N152I probably damaging Het
Sema6d T C 2: 124,656,924 probably benign Het
Simc1 C A 13: 54,525,176 Q446K probably benign Het
Svs2 G T 2: 164,237,042 T315K possibly damaging Het
Syt9 C T 7: 107,425,367 R156* probably null Het
Tmem260 A T 14: 48,509,121 Y618F probably damaging Het
Wdr44 A G X: 23,800,544 I719V possibly damaging Het
Zfp518a T G 19: 40,913,470 I614M probably damaging Het
Other mutations in Dnaaf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02699:Dnaaf5 APN 5 139153350 splice site probably benign
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 On2012-04-20