Incidental Mutation 'R8209:Dnaaf2'
ID 636077
Institutional Source Beutler Lab
Gene Symbol Dnaaf2
Ensembl Gene ENSMUSG00000020973
Gene Name dynein, axonemal assembly factor 2
Synonyms 1110034A24Rik, kintoun, 2810020C19Rik, Ktu
MMRRC Submission 067632-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8209 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 69235861-69245203 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69244866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 65 (V65E)
Ref Sequence ENSEMBL: ENSMUSP00000021356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021356] [ENSMUST00000021359]
AlphaFold Q8BPI1
Predicted Effect probably damaging
Transcript: ENSMUST00000021356
AA Change: V65E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021356
Gene: ENSMUSG00000020973
AA Change: V65E

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 probably benign
Transcript: ENSMUST00000021359
SMART Domains Protein: ENSMUSP00000021359
Gene: ENSMUSG00000020974

DomainStartEndE-ValueType
Pfam:Dpoe2NT 2 74 1.9e-32 PFAM
Pfam:DNA_pol_E_B 287 489 1.4e-58 PFAM
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,094,195 (GRCm39) N27S probably damaging Het
Akr1b1 G C 6: 34,288,867 (GRCm39) T114R probably damaging Het
Alx4 T C 2: 93,505,696 (GRCm39) M266T possibly damaging Het
Arhgap21 C T 2: 20,876,556 (GRCm39) D820N probably damaging Het
Clec4a1 A G 6: 122,907,773 (GRCm39) S154G probably damaging Het
Col11a2 T C 17: 34,266,253 (GRCm39) probably null Het
Dnah14 A G 1: 181,623,110 (GRCm39) E3996G possibly damaging Het
Dsg1b A G 18: 20,541,947 (GRCm39) Y818C probably benign Het
Dzip3 C T 16: 48,798,307 (GRCm39) G133S probably damaging Het
Efcab6 T C 15: 83,788,456 (GRCm39) Y946C probably benign Het
Eprs1 A G 1: 185,139,812 (GRCm39) E967G possibly damaging Het
F5 T C 1: 164,021,959 (GRCm39) V1478A probably benign Het
Fchsd2 C T 7: 100,931,679 (GRCm39) P745L probably damaging Het
Gart T C 16: 91,425,041 (GRCm39) I661V possibly damaging Het
Gm14295 T A 2: 176,502,970 (GRCm39) I820K unknown Het
Grb10 G T 11: 11,901,533 (GRCm39) L214M probably damaging Het
Gria2 A G 3: 80,616,764 (GRCm39) V396A probably benign Het
Il17rc C A 6: 113,449,771 (GRCm39) Q126K probably benign Het
Ipo8 A G 6: 148,698,176 (GRCm39) I615T possibly damaging Het
Irak4 T A 15: 94,456,244 (GRCm39) L277Q probably damaging Het
Islr T C 9: 58,065,340 (GRCm39) S56G probably damaging Het
Krt78 A T 15: 101,855,480 (GRCm39) M777K possibly damaging Het
Lrch4 A G 5: 137,637,997 (GRCm39) H93R Het
Muc21 T C 17: 35,930,599 (GRCm39) probably benign Het
Nbeal1 A T 1: 60,316,336 (GRCm39) K1846N probably damaging Het
Nedd1 T A 10: 92,527,797 (GRCm39) M466L probably benign Het
Nup107 T C 10: 117,593,836 (GRCm39) K786E probably benign Het
Or51f23b T C 7: 102,402,950 (GRCm39) Y62C probably benign Het
Or5ak25 T A 2: 85,268,981 (GRCm39) I174F probably damaging Het
Or5m12 T C 2: 85,734,547 (GRCm39) I284V probably benign Het
Phc2 T C 4: 128,603,299 (GRCm39) L143P probably benign Het
Pkhd1l1 A G 15: 44,437,803 (GRCm39) N3533D possibly damaging Het
Plpp1 A T 13: 113,003,465 (GRCm39) T230S probably benign Het
Prokr2 C A 2: 132,215,961 (GRCm39) A167S probably damaging Het
Qser1 C T 2: 104,619,070 (GRCm39) A491T probably benign Het
Rc3h2 T A 2: 37,267,001 (GRCm39) Y1040F possibly damaging Het
Rgl2 C T 17: 34,151,501 (GRCm39) L182F possibly damaging Het
Rnf130 T C 11: 49,962,097 (GRCm39) V181A probably benign Het
Scn7a T G 2: 66,531,204 (GRCm39) I558L possibly damaging Het
Shtn1 T C 19: 58,992,328 (GRCm39) I417V possibly damaging Het
Slco1a5 T G 6: 142,208,408 (GRCm39) N128H probably damaging Het
Smg5 C T 3: 88,258,838 (GRCm39) A603V probably benign Het
Svs3b T A 2: 164,098,140 (GRCm39) E60D possibly damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Timm44 A T 8: 4,316,844 (GRCm39) M263K probably benign Het
Tmem150b A G 7: 4,723,691 (GRCm39) L162P probably damaging Het
Tmprss11f A G 5: 86,687,566 (GRCm39) V114A probably damaging Het
Trak1 C T 9: 121,280,793 (GRCm39) T394I probably benign Het
Tram2 A C 1: 21,075,801 (GRCm39) Y206D probably damaging Het
Trhde C T 10: 114,403,133 (GRCm39) V497M probably damaging Het
Trpc2 A G 7: 101,737,482 (GRCm39) M425V possibly damaging Het
Tuba1b C T 15: 98,829,591 (GRCm39) G410S probably benign Het
Vmn2r1 A G 3: 63,997,199 (GRCm39) D285G possibly damaging Het
Zfp536 A T 7: 37,268,080 (GRCm39) S445R probably benign Het
Zfp606 A T 7: 12,227,234 (GRCm39) T452S probably benign 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
R1668:Dnaaf2 UTSW 12 69,243,465 (GRCm39) missense probably benign 0.04
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
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'- ACTTGATCTTCAGGGTCTTGGC -3'
(R):5'- CTGATCCTTCACTGGGTCTG -3'

Sequencing Primer
(F):5'- GGAAGACCACGTCGTAGAC -3'
(R):5'- TGGGTCACCATGGCCAAG -3'
Posted On 2020-07-13