Incidental Mutation 'R1668:Dnaaf2'
ID 187395
Institutional Source Beutler Lab
Gene Symbol Dnaaf2
Ensembl Gene ENSMUSG00000020973
Gene Name dynein, axonemal assembly factor 2
Synonyms 1110034A24Rik, kintoun, 2810020C19Rik, Ktu
MMRRC Submission 039704-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1668 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 69235861-69245203 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69243465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 532 (V532A)
Ref Sequence ENSEMBL: ENSMUSP00000021356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021356] [ENSMUST00000222699]
AlphaFold Q8BPI1
Predicted Effect probably benign
Transcript: ENSMUST00000021356
AA Change: V532A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000021356
Gene: ENSMUSG00000020973
AA Change: V532A

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
Pfam:PIH1 43 352 2e-99 PFAM
low complexity region 360 373 N/A INTRINSIC
SCOP:d1keka4 398 460 4e-3 SMART
low complexity region 672 693 N/A INTRINSIC
low complexity region 734 743 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181850
SMART Domains Protein: ENSMUSP00000137753
Gene: ENSMUSG00000097061

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
low complexity region 46 59 N/A INTRINSIC
low complexity region 74 87 N/A INTRINSIC
low complexity region 113 132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000222699
Predicted Effect unknown
Transcript: ENSMUST00000223192
AA Change: V138A
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in the human gene have been associated with primary ciliary dyskinesia. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, reduced body size, situs inversus totalis, hydroencephaly and abnormal brain ependymal and tracheal cilia morphology and motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra2c T C 5: 35,437,641 (GRCm39) S138P probably damaging Het
Appl1 A C 14: 26,645,811 (GRCm39) S666R probably damaging Het
Arhgap45 A G 10: 79,864,584 (GRCm39) S879G possibly damaging Het
Calcoco2 T C 11: 95,993,563 (GRCm39) M140V probably benign Het
Cap2 C A 13: 46,768,799 (GRCm39) H147N probably damaging Het
Chd9 A T 8: 91,767,814 (GRCm39) H2437L probably damaging Het
Col5a3 A G 9: 20,682,392 (GRCm39) I1684T unknown Het
Comp A T 8: 70,831,607 (GRCm39) probably null Het
Cyp2c50 A T 19: 40,079,499 (GRCm39) M198L probably benign Het
Dnah10 A T 5: 124,842,626 (GRCm39) Q1358L probably benign Het
Dop1b T A 16: 93,562,404 (GRCm39) S832T probably damaging Het
Dus3l T G 17: 57,073,912 (GRCm39) F162C possibly damaging Het
Epb41l4a A G 18: 34,054,962 (GRCm39) L42P probably damaging Het
Ercc5 T A 1: 44,206,193 (GRCm39) S369T probably benign Het
Fbxl2 C T 9: 113,818,214 (GRCm39) V211M probably benign Het
Fermt3 A G 19: 6,996,060 (GRCm39) V45A probably damaging Het
Frs3 C A 17: 48,014,147 (GRCm39) P280Q possibly damaging Het
Fxn A G 19: 24,239,377 (GRCm39) Y172H probably damaging Het
Gabpa T C 16: 84,643,069 (GRCm39) V122A probably damaging Het
Gsta4 A G 9: 78,111,570 (GRCm39) T66A probably benign Het
Hsdl2 C T 4: 59,612,697 (GRCm39) T296M probably damaging Het
Kank4 T C 4: 98,667,133 (GRCm39) N438S probably damaging Het
Krt24 A G 11: 99,175,444 (GRCm39) I197T probably benign Het
Lct T C 1: 128,215,459 (GRCm39) probably null Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mc4r A G 18: 66,992,480 (GRCm39) L211P probably damaging Het
Mfsd4b5 T C 10: 39,849,687 (GRCm39) T111A probably damaging Het
Mgat5b T A 11: 116,874,474 (GRCm39) N635K probably benign Het
Mms19 A T 19: 41,940,995 (GRCm39) M443K possibly damaging Het
Morc2a G A 11: 3,625,885 (GRCm39) V162M probably benign Het
Mroh5 T C 15: 73,659,754 (GRCm39) N359S probably benign Het
Mroh9 T C 1: 162,852,161 (GRCm39) I843V possibly damaging Het
Nbeal2 T C 9: 110,467,961 (GRCm39) D436G probably damaging Het
Nbr1 A G 11: 101,460,592 (GRCm39) D502G probably benign Het
Ngfr C T 11: 95,478,371 (GRCm39) G5D probably damaging Het
Nlrc4 G A 17: 74,752,901 (GRCm39) T494M probably damaging Het
Notch3 T A 17: 32,377,563 (GRCm39) H171L probably damaging Het
Nsmaf A G 4: 6,398,880 (GRCm39) L795P probably damaging Het
Nup210 T C 6: 91,005,787 (GRCm39) T616A possibly damaging Het
Or10d5 C A 9: 39,861,465 (GRCm39) V201L possibly damaging Het
Or1j18 T A 2: 36,625,204 (GRCm39) Y290* probably null Het
Or5ak25 T A 2: 85,269,220 (GRCm39) Y94F probably benign Het
Or5b113 A C 19: 13,342,234 (GRCm39) M81L probably benign Het
Osbpl5 T C 7: 143,262,776 (GRCm39) H192R probably damaging Het
Parp2 G A 14: 51,058,313 (GRCm39) R486Q probably benign Het
Pcgf6 G A 19: 47,028,544 (GRCm39) A286V probably damaging Het
Pla2r1 T C 2: 60,258,990 (GRCm39) T1133A probably damaging Het
Plekha2 T C 8: 25,562,070 (GRCm39) N48S probably damaging Het
Pole T G 5: 110,445,235 (GRCm39) S461A probably damaging Het
Ppfibp2 T C 7: 107,329,099 (GRCm39) L536P probably damaging Het
Prkcz G T 4: 155,374,208 (GRCm39) F69L probably damaging Het
Prkd1 G A 12: 50,441,709 (GRCm39) H277Y probably damaging Het
Rab23 A T 1: 33,773,935 (GRCm39) K132* probably null Het
Rbck1 T A 2: 152,158,819 (GRCm39) S488C probably damaging Het
Rbl1 T C 2: 157,001,654 (GRCm39) Y878C probably damaging Het
Rpn2 C T 2: 157,136,075 (GRCm39) T161M possibly damaging Het
Rufy4 G A 1: 74,186,837 (GRCm39) V542I probably benign Het
Serpinb3d A G 1: 107,008,481 (GRCm39) V128A probably benign Het
Smarca2 A G 19: 26,624,434 (GRCm39) I365V possibly damaging Het
Spata31f1a G T 4: 42,848,424 (GRCm39) T1244K probably damaging Het
Sptb A G 12: 76,667,943 (GRCm39) V718A probably benign Het
Susd4 A G 1: 182,686,128 (GRCm39) H226R probably benign Het
Tmem151b T C 17: 45,856,831 (GRCm39) Y203C probably damaging Het
Tmppe T C 9: 114,233,968 (GRCm39) V89A possibly damaging Het
Trappc6b A T 12: 59,094,907 (GRCm39) probably null Het
Ube4b A T 4: 149,445,751 (GRCm39) M433K probably benign Het
Vmn1r202 A T 13: 22,685,540 (GRCm39) D292E possibly damaging Het
Vmn1r22 A G 6: 57,877,704 (GRCm39) M91T probably benign Het
Vmn1r43 T C 6: 89,846,683 (GRCm39) I268V probably benign Het
Vmn1r49 T A 6: 90,049,764 (GRCm39) R79S probably benign Het
Vmn2r14 T A 5: 109,366,913 (GRCm39) K436* probably null Het
Wdr72 A G 9: 74,117,444 (GRCm39) S719G probably damaging Het
Zfp526 T C 7: 24,924,967 (GRCm39) F409L probably benign Het
Zfp804b A C 5: 6,821,323 (GRCm39) L580R possibly damaging Het
Zfp977 T C 7: 42,230,070 (GRCm39) T152A probably benign Het
Zyx T A 6: 42,332,966 (GRCm39) V372E possibly damaging Het
Other mutations in Dnaaf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Dnaaf2 APN 12 69,243,540 (GRCm39) missense probably benign 0.23
IGL01321:Dnaaf2 APN 12 69,243,376 (GRCm39) missense probably damaging 1.00
IGL01880:Dnaaf2 APN 12 69,236,811 (GRCm39) missense probably benign 0.17
R0329:Dnaaf2 UTSW 12 69,244,518 (GRCm39) missense probably damaging 1.00
R0330:Dnaaf2 UTSW 12 69,244,518 (GRCm39) missense probably damaging 1.00
R1051:Dnaaf2 UTSW 12 69,244,569 (GRCm39) missense probably damaging 1.00
R2011:Dnaaf2 UTSW 12 69,243,559 (GRCm39) missense probably damaging 1.00
R2179:Dnaaf2 UTSW 12 69,245,071 (GRCm39) unclassified probably benign
R2243:Dnaaf2 UTSW 12 69,243,418 (GRCm39) missense possibly damaging 0.83
R2356:Dnaaf2 UTSW 12 69,244,992 (GRCm39) missense probably benign 0.01
R4120:Dnaaf2 UTSW 12 69,244,812 (GRCm39) missense possibly damaging 0.85
R5086:Dnaaf2 UTSW 12 69,244,060 (GRCm39) missense probably damaging 1.00
R5205:Dnaaf2 UTSW 12 69,239,698 (GRCm39) missense probably damaging 1.00
R5300:Dnaaf2 UTSW 12 69,245,002 (GRCm39) missense probably damaging 0.99
R5399:Dnaaf2 UTSW 12 69,243,516 (GRCm39) missense probably damaging 0.97
R5739:Dnaaf2 UTSW 12 69,243,715 (GRCm39) missense probably benign
R5765:Dnaaf2 UTSW 12 69,239,627 (GRCm39) missense probably damaging 1.00
R5872:Dnaaf2 UTSW 12 69,244,122 (GRCm39) missense probably damaging 1.00
R6043:Dnaaf2 UTSW 12 69,244,122 (GRCm39) missense probably damaging 1.00
R6338:Dnaaf2 UTSW 12 69,244,896 (GRCm39) missense probably damaging 1.00
R6503:Dnaaf2 UTSW 12 69,244,285 (GRCm39) missense probably benign 0.42
R6524:Dnaaf2 UTSW 12 69,237,159 (GRCm39) missense probably benign 0.43
R6895:Dnaaf2 UTSW 12 69,244,437 (GRCm39) missense probably benign 0.04
R7490:Dnaaf2 UTSW 12 69,244,380 (GRCm39) missense probably damaging 1.00
R7971:Dnaaf2 UTSW 12 69,244,119 (GRCm39) missense probably damaging 1.00
R8209:Dnaaf2 UTSW 12 69,244,866 (GRCm39) missense probably damaging 1.00
R8790:Dnaaf2 UTSW 12 69,244,068 (GRCm39) missense probably damaging 1.00
R9210:Dnaaf2 UTSW 12 69,244,602 (GRCm39) missense probably damaging 1.00
R9548:Dnaaf2 UTSW 12 69,244,776 (GRCm39) missense probably damaging 1.00
Z1176:Dnaaf2 UTSW 12 69,244,624 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTCAAGCCACAATACCACTCTCG -3'
(R):5'- AGATGGAACCGGAGCTGACCAC -3'

Sequencing Primer
(F):5'- ACTCTCGCCAAAGTCCGTG -3'
(R):5'- ACCTCTAGACCTCGGGAAAGG -3'
Posted On 2014-05-09