Incidental Mutation 'R1927:Dnaaf4'
ID 214957
Institutional Source Beutler Lab
Gene Symbol Dnaaf4
Ensembl Gene ENSMUSG00000092192
Gene Name dynein axonemal assembly factor 4
Synonyms EKN1, Dyx1c1, 1700010I24Rik, b2b811Clo
MMRRC Submission 039945-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.819) question?
Stock # R1927 (G1)
Quality Score 198
Status Not validated
Chromosome 9
Chromosomal Location 72866067-72880346 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72867909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 57 (I57L)
Ref Sequence ENSEMBL: ENSMUSP00000034734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034734] [ENSMUST00000098567] [ENSMUST00000149692]
AlphaFold Q8R368
Predicted Effect probably damaging
Transcript: ENSMUST00000034734
AA Change: I57L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034734
Gene: ENSMUSG00000092192
AA Change: I57L

DomainStartEndE-ValueType
Pfam:CS 6 77 5.8e-9 PFAM
coiled coil region 101 161 N/A INTRINSIC
TPR 288 321 2.56e1 SMART
TPR 322 355 1.26e-1 SMART
TPR 364 397 2.59e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098567
AA Change: I57L

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000096166
Gene: ENSMUSG00000092192
AA Change: I57L

DomainStartEndE-ValueType
Pfam:CS 6 77 1.3e-14 PFAM
TPR 168 201 2.56e1 SMART
TPR 202 235 1.26e-1 SMART
TPR 244 277 2.59e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000149692
AA Change: I57L

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120629
Gene: ENSMUSG00000089865
AA Change: I57L

DomainStartEndE-ValueType
Pfam:CS 6 77 2.1e-9 PFAM
coiled coil region 101 161 N/A INTRINSIC
Pfam:TPR_11 286 352 2e-14 PFAM
Pfam:TPR_1 322 352 5.6e-6 PFAM
Blast:TPR 364 386 1e-5 BLAST
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit both pre- and postnatal lethality, hydrocephalus, and defects in organ laterality and ciliary motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,613,338 (GRCm39) S31P probably damaging Het
Abca12 G T 1: 71,283,999 (GRCm39) H2524Q probably damaging Het
Acsl5 T C 19: 55,266,586 (GRCm39) V135A probably benign Het
Actl11 T G 9: 107,806,736 (GRCm39) L353R possibly damaging Het
Adcy6 G T 15: 98,496,379 (GRCm39) probably null Het
B230104I21Rik A G 4: 154,425,694 (GRCm39) I697T probably damaging Het
BC061237 G A 14: 44,738,700 (GRCm39) R33K possibly damaging Het
Brf1 C A 12: 112,963,964 (GRCm39) V5F possibly damaging Het
Chmp2a C T 7: 12,767,863 (GRCm39) A21T possibly damaging Het
Cwh43 A G 5: 73,610,417 (GRCm39) N607S probably benign Het
Ddhd2 G A 8: 26,231,688 (GRCm39) L445F possibly damaging Het
Dicer1 C A 12: 104,669,143 (GRCm39) D1180Y possibly damaging Het
Dock5 A T 14: 68,083,511 (GRCm39) S133T possibly damaging Het
Efs A T 14: 55,154,620 (GRCm39) C540S possibly damaging Het
Ehd4 C T 2: 119,921,973 (GRCm39) G428S probably benign Het
Eml1 C T 12: 108,504,476 (GRCm39) R812* probably null Het
Enpp1 C T 10: 24,530,786 (GRCm39) D557N possibly damaging Het
Fn3krp A G 11: 121,315,803 (GRCm39) T65A probably damaging Het
Galnt5 A G 2: 57,888,615 (GRCm39) R72G probably benign Het
Gfod1 C T 13: 43,354,336 (GRCm39) R213H possibly damaging Het
Gm10518 A G 1: 179,631,210 (GRCm39) probably benign Het
Gm5431 A G 11: 48,780,082 (GRCm39) F558S probably damaging Het
Got1 C T 19: 43,504,119 (GRCm39) probably null Het
Gucy2g C T 19: 55,226,191 (GRCm39) V242I probably benign Het
Hdgfl2 T A 17: 56,406,874 (GRCm39) V606E possibly damaging Het
Hoxa3 T C 6: 52,146,979 (GRCm39) probably benign Het
Iqub T A 6: 24,491,670 (GRCm39) I339L probably benign Het
Kdm4c C T 4: 74,263,720 (GRCm39) T668I probably benign Het
Klhl32 T C 4: 24,617,474 (GRCm39) I592V probably benign Het
Mfsd12 G T 10: 81,197,921 (GRCm39) M296I probably benign Het
Mfsd4b4 C T 10: 39,768,437 (GRCm39) A219T probably damaging Het
Mrpl52 T C 14: 54,664,414 (GRCm39) S9P possibly damaging Het
Nbr1 A G 11: 101,458,040 (GRCm39) Y273C possibly damaging Het
Ncf4 G T 15: 78,144,846 (GRCm39) G217V probably damaging Het
Neo1 T C 9: 58,897,668 (GRCm39) E96G probably benign Het
Nid2 T A 14: 19,818,344 (GRCm39) N279K probably damaging Het
Nr5a2 A G 1: 136,872,732 (GRCm39) Y56H probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Nynrin A G 14: 56,101,049 (GRCm39) T280A probably benign Het
Or1o2 A G 17: 37,542,434 (GRCm39) Y276H probably damaging Het
Or2b28 T A 13: 21,531,116 (GRCm39) I6N probably benign Het
Or2w2 A G 13: 21,758,426 (GRCm39) F67L probably benign Het
Or55b10 A G 7: 102,143,266 (GRCm39) S239P possibly damaging Het
Or5b109 T C 19: 13,212,393 (GRCm39) Y260H probably damaging Het
Otog G A 7: 45,895,707 (GRCm39) C107Y probably damaging Het
Ptprn A G 1: 75,230,766 (GRCm39) V565A probably benign Het
Rbm6 T G 9: 107,730,102 (GRCm39) D182A probably damaging Het
Rhbg A G 3: 88,151,859 (GRCm39) F400L probably benign Het
Rpl22l1 T A 3: 28,860,738 (GRCm39) N33K possibly damaging Het
Rtp1 T A 16: 23,249,959 (GRCm39) I108N probably damaging Het
Sema6b A T 17: 56,439,797 (GRCm39) F15I probably benign Het
Sirpa C T 2: 129,458,296 (GRCm39) T304I possibly damaging Het
Slc22a29 A G 19: 8,184,430 (GRCm39) I257T probably benign Het
Slc41a1 T C 1: 131,768,938 (GRCm39) I256T probably damaging Het
Smg6 A G 11: 75,033,674 (GRCm39) K1208R probably damaging Het
Sorcs1 G T 19: 50,210,633 (GRCm39) P744Q probably damaging Het
Sptbn5 T C 2: 119,900,943 (GRCm39) T213A probably benign Het
St18 A G 1: 6,872,936 (GRCm39) T224A probably benign Het
Stat3 T C 11: 100,785,655 (GRCm39) N465S probably damaging Het
Stmn2 T A 3: 8,610,636 (GRCm39) M40K probably benign Het
Tespa1 A G 10: 130,184,108 (GRCm39) D63G probably benign Het
Thrb T A 14: 18,008,674 (GRCm38) C133S probably damaging Het
Tmem25 C T 9: 44,707,780 (GRCm39) V172M possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trhde T A 10: 114,636,754 (GRCm39) Y151F probably damaging Het
Trp53bp2 A G 1: 182,280,229 (GRCm39) T912A probably damaging Het
Unc79 C A 12: 103,135,951 (GRCm39) A2269E probably damaging Het
Zfp507 C T 7: 35,493,150 (GRCm39) R631Q probably damaging Het
Zfp758 T G 17: 22,594,823 (GRCm39) S436R probably damaging Het
Zfp791 G T 8: 85,837,312 (GRCm39) T184K probably benign Het
Znrf3 A G 11: 5,231,062 (GRCm39) V817A probably benign Het
Other mutations in Dnaaf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02198:Dnaaf4 APN 9 72,876,348 (GRCm39) missense probably benign 0.02
R0211:Dnaaf4 UTSW 9 72,868,649 (GRCm39) missense possibly damaging 0.82
R0310:Dnaaf4 UTSW 9 72,879,618 (GRCm39) missense probably damaging 1.00
R0712:Dnaaf4 UTSW 9 72,867,939 (GRCm39) nonsense probably null
R1791:Dnaaf4 UTSW 9 72,867,966 (GRCm39) missense possibly damaging 0.90
R3085:Dnaaf4 UTSW 9 72,879,688 (GRCm39) missense probably benign 0.00
R4624:Dnaaf4 UTSW 9 72,871,453 (GRCm39) missense probably benign 0.01
R4998:Dnaaf4 UTSW 9 72,867,960 (GRCm39) missense possibly damaging 0.93
R5008:Dnaaf4 UTSW 9 72,879,600 (GRCm39) intron probably benign
R5200:Dnaaf4 UTSW 9 72,879,713 (GRCm39) missense probably damaging 1.00
R5256:Dnaaf4 UTSW 9 72,879,362 (GRCm39) critical splice donor site probably null
R5806:Dnaaf4 UTSW 9 72,869,336 (GRCm39) missense probably benign 0.06
R5930:Dnaaf4 UTSW 9 72,879,280 (GRCm39) missense probably damaging 1.00
R6751:Dnaaf4 UTSW 9 72,869,257 (GRCm39) missense probably benign 0.08
R8018:Dnaaf4 UTSW 9 72,879,598 (GRCm39) intron probably benign
R9373:Dnaaf4 UTSW 9 72,871,462 (GRCm39) missense probably damaging 1.00
Z1177:Dnaaf4 UTSW 9 72,869,246 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- ACTATGTCCCCACCCTAGCATG -3'
(R):5'- AGGTACATACTGAGCTCTCGTG -3'

Sequencing Primer
(F):5'- CCCAGGTTGTCTACAAGAATAAGTGC -3'
(R):5'- ACATACTGAGCTCTCGTGAATGGC -3'
Posted On 2014-07-14