Incidental Mutation 'R5846:Dnaaf3'
ID 453617
Institutional Source Beutler Lab
Gene Symbol Dnaaf3
Ensembl Gene ENSMUSG00000055809
Gene Name dynein, axonemal assembly factor 3
Synonyms 6030429G01Rik, b2b1739Clo
MMRRC Submission 044064-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.483) question?
Stock # R5846 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 4525932-4535452 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4526686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 464 (S464T)
Ref Sequence ENSEMBL: ENSMUSP00000092498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094897] [ENSMUST00000098859] [ENSMUST00000209148] [ENSMUST00000140424] [ENSMUST00000154913]
AlphaFold Q3UYV8
Predicted Effect possibly damaging
Transcript: ENSMUST00000094897
AA Change: S464T

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000092498
Gene: ENSMUSG00000055809
AA Change: S464T

DomainStartEndE-ValueType
Pfam:DUF4470 16 122 1.3e-27 PFAM
Pfam:DUF4471 154 436 5.3e-104 PFAM
internal_repeat_1 467 512 1.63e-5 PROSPERO
internal_repeat_1 525 568 1.63e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000098859
SMART Domains Protein: ENSMUSP00000096458
Gene: ENSMUSG00000035458

DomainStartEndE-ValueType
Pfam:Troponin-I_N 1 32 1e-10 PFAM
Pfam:Troponin 47 178 3.6e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127736
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132621
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150166
Predicted Effect probably benign
Transcript: ENSMUST00000209148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205662
Predicted Effect probably benign
Transcript: ENSMUST00000140424
SMART Domains Protein: ENSMUSP00000115015
Gene: ENSMUSG00000035458

DomainStartEndE-ValueType
Pfam:Troponin-I_N 1 32 1.1e-14 PFAM
Pfam:Troponin 47 125 3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154913
SMART Domains Protein: ENSMUSP00000122916
Gene: ENSMUSG00000035458

DomainStartEndE-ValueType
Pfam:Troponin-I_N 1 32 9e-15 PFAM
Pfam:Troponin 47 112 1.8e-20 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 97% (67/69)
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 required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit situs inversus totalis and complex congenital heart disease associated with heterotaxy, abdominal organ situs anomalies and immotile respiratory cilia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,562,377 (GRCm39) S335P unknown Het
Ace3 A T 11: 105,889,188 (GRCm39) I473F probably benign Het
Adcy2 T A 13: 68,886,707 (GRCm39) N281Y probably damaging Het
Adgra1 T A 7: 139,455,196 (GRCm39) W275R probably damaging Het
Apmap T C 2: 150,450,341 (GRCm39) D20G probably damaging Het
Arap2 T C 5: 62,807,116 (GRCm39) T1184A probably damaging Het
Atp13a2 T C 4: 140,722,907 (GRCm39) V303A possibly damaging Het
BC004004 A T 17: 29,501,282 (GRCm39) probably benign Het
C1s1 G A 6: 124,517,912 (GRCm39) P23S possibly damaging Het
C1s2 T A 6: 124,608,123 (GRCm39) N197Y probably damaging Het
Camsap3 A G 8: 3,653,980 (GRCm39) H539R probably damaging Het
Catsperb A T 12: 101,569,025 (GRCm39) N899I probably damaging Het
Cct4 T C 11: 22,951,354 (GRCm39) probably benign Het
Chrm2 A T 6: 36,500,385 (GRCm39) T81S probably damaging Het
Dnah10 T A 5: 124,900,437 (GRCm39) I3898N possibly damaging Het
Dnah3 TTCCTC TTC 7: 119,550,244 (GRCm39) probably benign Het
Dnajc13 T C 9: 104,067,584 (GRCm39) K1187E probably damaging Het
Dock4 A T 12: 40,867,735 (GRCm39) D1437V probably damaging Het
Dst C T 1: 34,234,942 (GRCm39) Q3674* probably null Het
Eef1a2 T C 2: 180,794,776 (GRCm39) Y141C probably damaging Het
Fads3 G T 19: 10,030,397 (GRCm39) Q178H probably null Het
Fbxw22 T A 9: 109,215,829 (GRCm39) M140L probably benign Het
Fndc7 A G 3: 108,788,707 (GRCm39) I178T probably damaging Het
Foxd1 T C 13: 98,491,549 (GRCm39) M141T probably damaging Het
H4c2 T C 13: 23,941,215 (GRCm39) V71A possibly damaging Het
Havcr2 T C 11: 46,360,343 (GRCm39) I141T probably benign Het
Hectd1 A C 12: 51,820,618 (GRCm39) N1190K probably damaging Het
Hook3 T A 8: 26,534,355 (GRCm39) probably benign Het
Hpgd T A 8: 56,760,702 (GRCm39) I133N possibly damaging Het
Itih2 T C 2: 10,102,714 (GRCm39) R807G probably benign Het
Klhl35 G A 7: 99,122,094 (GRCm39) G65D probably damaging Het
Lrch4 C G 5: 137,631,919 (GRCm39) C48W probably damaging Het
Mafa A G 15: 75,619,627 (GRCm39) S49P probably benign Het
Magi1 A G 6: 93,662,584 (GRCm39) V1170A probably damaging Het
Mprip A T 11: 59,649,380 (GRCm39) K1028M probably damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Numb G T 12: 83,923,521 (GRCm39) probably benign Het
Obscn A G 11: 58,929,435 (GRCm39) L6063P probably damaging Het
Or2y6 A G 11: 52,103,881 (GRCm39) *312Q probably null Het
Or6c6c A T 10: 129,540,756 (GRCm39) N3I probably damaging Het
P3h3 A T 6: 124,834,157 (GRCm39) probably null Het
Pi4k2a A G 19: 42,103,477 (GRCm39) D329G probably benign Het
Ptch1 T C 13: 63,713,268 (GRCm39) probably benign Het
Samd9l A G 6: 3,376,754 (GRCm39) V169A probably benign Het
Sdk1 T C 5: 142,100,148 (GRCm39) Y1393H probably damaging Het
Slc18a3 T A 14: 32,185,880 (GRCm39) M168L probably benign Het
Smurf1 T C 5: 144,816,190 (GRCm39) T722A probably damaging Het
Ssr2 C T 3: 88,488,379 (GRCm39) P85L probably damaging Het
Syne2 G T 12: 76,074,898 (GRCm39) A4614S probably benign Het
Tgfbr3 C A 5: 107,288,521 (GRCm39) G380V possibly damaging Het
Tk1 G T 11: 117,706,748 (GRCm39) probably benign Het
Tmem245 A T 4: 56,903,241 (GRCm39) S610T probably benign Het
Tmtc2 A G 10: 105,107,302 (GRCm39) probably benign Het
Trim30b A G 7: 104,006,578 (GRCm39) Y93H possibly damaging Het
Tsks A G 7: 44,593,412 (GRCm39) D126G probably damaging Het
Ttn T A 2: 76,733,812 (GRCm39) probably benign Het
Usp15 A G 10: 123,017,647 (GRCm39) W50R probably damaging Het
Vmn2r55 A T 7: 12,404,492 (GRCm39) F304I probably benign Het
Xirp2 T A 2: 67,339,587 (GRCm39) D609E probably damaging Het
Zan C T 5: 137,392,638 (GRCm39) probably null Het
Other mutations in Dnaaf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02197:Dnaaf3 APN 7 4,530,496 (GRCm39) missense probably damaging 1.00
IGL02319:Dnaaf3 APN 7 4,526,946 (GRCm39) missense probably damaging 1.00
IGL02805:Dnaaf3 APN 7 4,526,704 (GRCm39) missense possibly damaging 0.64
R1818:Dnaaf3 UTSW 7 4,526,569 (GRCm39) missense probably benign 0.35
R1818:Dnaaf3 UTSW 7 4,526,568 (GRCm39) splice site probably null
R2063:Dnaaf3 UTSW 7 4,526,798 (GRCm39) missense possibly damaging 0.87
R2064:Dnaaf3 UTSW 7 4,526,798 (GRCm39) missense possibly damaging 0.87
R2066:Dnaaf3 UTSW 7 4,526,798 (GRCm39) missense possibly damaging 0.87
R2068:Dnaaf3 UTSW 7 4,526,798 (GRCm39) missense possibly damaging 0.87
R2132:Dnaaf3 UTSW 7 4,526,800 (GRCm39) missense probably benign 0.00
R2363:Dnaaf3 UTSW 7 4,535,276 (GRCm39) critical splice acceptor site probably null
R4710:Dnaaf3 UTSW 7 4,529,493 (GRCm39) missense probably damaging 1.00
R4803:Dnaaf3 UTSW 7 4,529,903 (GRCm39) missense probably benign 0.14
R4939:Dnaaf3 UTSW 7 4,530,144 (GRCm39) missense probably damaging 1.00
R5487:Dnaaf3 UTSW 7 4,526,864 (GRCm39) splice site probably null
R6084:Dnaaf3 UTSW 7 4,527,212 (GRCm39) missense probably benign 0.00
R6218:Dnaaf3 UTSW 7 4,526,671 (GRCm39) missense probably benign 0.23
R6576:Dnaaf3 UTSW 7 4,526,379 (GRCm39) missense probably benign 0.41
R6916:Dnaaf3 UTSW 7 4,530,532 (GRCm39) missense probably damaging 1.00
R7219:Dnaaf3 UTSW 7 4,531,076 (GRCm39) missense probably damaging 1.00
R8399:Dnaaf3 UTSW 7 4,526,936 (GRCm39) critical splice donor site probably null
R8678:Dnaaf3 UTSW 7 4,533,814 (GRCm39) missense probably damaging 1.00
R9515:Dnaaf3 UTSW 7 4,531,100 (GRCm39) missense probably damaging 1.00
Z1088:Dnaaf3 UTSW 7 4,526,794 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACAGGCAGGACTAGCTTAGC -3'
(R):5'- ATAGGTACTTGGTGGACCTGCG -3'

Sequencing Primer
(F):5'- ATGGGCTCAACGCTTCTAGAG -3'
(R):5'- TGCGGCCCAAGGAGTTG -3'
Posted On 2017-02-10