Incidental Mutation 'R5008:Dnaaf4'
ID 390292
Institutional Source Beutler Lab
Gene Symbol Dnaaf4
Ensembl Gene ENSMUSG00000092192
Gene Name dynein axonemal assembly factor 4
Synonyms EKN1, Dyx1c1, 1700010I24Rik, b2b811Clo
MMRRC Submission 042599-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.819) question?
Stock # R5008 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 72866067-72880346 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 72879600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034734] [ENSMUST00000098567] [ENSMUST00000149692]
AlphaFold Q8R368
Predicted Effect probably benign
Transcript: ENSMUST00000034734
SMART Domains Protein: ENSMUSP00000034734
Gene: ENSMUSG00000092192

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
SMART Domains Protein: ENSMUSP00000096166
Gene: ENSMUSG00000092192

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 probably benign
Transcript: ENSMUST00000149692
SMART Domains Protein: ENSMUSP00000120629
Gene: ENSMUSG00000089865

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193501
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 97% (73/75)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C G 7: 27,278,192 (GRCm39) T242R probably damaging Het
2310057N15Rik A G 16: 88,570,663 (GRCm39) Y126H probably damaging Het
Catsperg1 A T 7: 28,894,859 (GRCm39) Y579* probably null Het
Chchd5 A T 2: 128,972,319 (GRCm39) probably null Het
Chd1l T C 3: 97,491,224 (GRCm39) N423D probably damaging Het
Cntnap1 G A 11: 101,079,567 (GRCm39) W1268* probably null Het
Col2a1 G A 15: 97,877,550 (GRCm39) A1011V probably benign Het
Cst11 A G 2: 148,612,325 (GRCm39) I104T probably benign Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Dnah17 A G 11: 118,001,403 (GRCm39) F847L probably benign Het
Dspp A T 5: 104,323,439 (GRCm39) H194L possibly damaging Het
Dync2i2 C A 2: 29,922,781 (GRCm39) R322L probably benign Het
Frmd5 C A 2: 121,379,341 (GRCm39) R414L probably damaging Het
Galnt3 C A 2: 65,915,585 (GRCm39) R592L probably benign Het
Gm38706 T A 6: 130,461,580 (GRCm39) noncoding transcript Het
Gm38706 T A 6: 130,461,983 (GRCm39) noncoding transcript Het
Hivep3 A G 4: 119,956,114 (GRCm39) K1477E probably benign Het
Igsf3 C T 3: 101,358,233 (GRCm39) T708M probably damaging Het
Ikzf4 T G 10: 128,477,119 (GRCm39) E64A probably benign Het
Klhl28 C T 12: 65,004,001 (GRCm39) E171K probably damaging Het
Krt87 T A 15: 101,389,105 (GRCm39) I76F probably damaging Het
Lat2 A G 5: 134,631,991 (GRCm39) V152A probably benign Het
Lrp12 C T 15: 39,741,852 (GRCm39) D288N probably damaging Het
Mdp1 C T 14: 55,896,683 (GRCm39) R126Q probably damaging Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Muc6 G A 7: 141,223,981 (GRCm39) probably benign Het
Myh4 T A 11: 67,144,358 (GRCm39) S1243T probably benign Het
Myo3b T A 2: 70,088,412 (GRCm39) F892I probably damaging Het
Nckap5l T C 15: 99,323,731 (GRCm39) N924S possibly damaging Het
Npnt C T 3: 132,612,218 (GRCm39) C218Y probably damaging Het
Or2a20 T A 6: 43,193,991 (GRCm39) I48N probably damaging Het
Or2d2b A T 7: 106,705,288 (GRCm39) M260K probably damaging Het
Or7a42 T A 10: 78,791,905 (GRCm39) F289I probably damaging Het
Pfkm G A 15: 98,020,570 (GRCm39) C233Y probably benign Het
Pigq A G 17: 26,153,177 (GRCm39) V338A probably benign Het
Pld4 A T 12: 112,734,484 (GRCm39) N415I possibly damaging Het
Pmm1 A T 15: 81,842,095 (GRCm39) probably null Het
Polg G T 7: 79,109,822 (GRCm39) P394T probably damaging Het
Polq A T 16: 36,882,749 (GRCm39) I1359L probably benign Het
Pramel30 A G 4: 144,057,836 (GRCm39) S148G probably benign Het
Pros1 A G 16: 62,748,548 (GRCm39) N674D possibly damaging Het
Psme4 T A 11: 30,806,896 (GRCm39) probably benign Het
Rasa3 A T 8: 13,634,959 (GRCm39) C453* probably null Het
Repin1 T C 6: 48,573,542 (GRCm39) V101A probably damaging Het
Rnf186 A T 4: 138,694,540 (GRCm39) M27L probably benign Het
Rpa1 A G 11: 75,204,125 (GRCm39) probably null Het
Rph3a G T 5: 121,083,454 (GRCm39) N605K probably damaging Het
Rps18 A T 17: 34,171,258 (GRCm39) probably null Het
Scgn A G 13: 24,174,958 (GRCm39) I20T probably damaging Het
Skint6 A T 4: 112,848,452 (GRCm39) V652E possibly damaging Het
Slc23a2 T C 2: 131,943,414 (GRCm39) H29R probably damaging Het
Slc34a3 C T 2: 25,120,854 (GRCm39) V383I possibly damaging Het
Slc5a1 A G 5: 33,309,917 (GRCm39) M382V possibly damaging Het
Slc5a3 T A 16: 91,874,169 (GRCm39) S75R probably damaging Het
Stat5b G C 11: 100,693,309 (GRCm39) H111D probably benign Het
Tanc2 G A 11: 105,515,886 (GRCm39) M1I probably null Het
Tbcel C T 9: 42,327,419 (GRCm39) G328E probably damaging Het
Tecta C A 9: 42,284,358 (GRCm39) R909L possibly damaging Het
Tnip1 A T 11: 54,828,810 (GRCm39) M119K probably benign Het
Zbbx A C 3: 75,058,755 (GRCm39) S51A possibly damaging Het
Zc3h12c T C 9: 52,028,000 (GRCm39) N454S probably benign Het
Zfp980 G A 4: 145,428,653 (GRCm39) G461S 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
R1927:Dnaaf4 UTSW 9 72,867,909 (GRCm39) missense probably damaging 0.98
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
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'- AGAATGAAGGCACACGTCCG -3'
(R):5'- ACTAGCGCGGTACTGTACAG -3'

Sequencing Primer
(F):5'- GCATGCATGAGGCCATTAGATTCC -3'
(R):5'- CTGTACAGAGCTACAGTACTTGCAG -3'
Posted On 2016-06-06