Incidental Mutation 'R5200:Dnaaf4'
ID 400703
Institutional Source Beutler Lab
Gene Symbol Dnaaf4
Ensembl Gene ENSMUSG00000092192
Gene Name dynein axonemal assembly factor 4
Synonyms EKN1, Dyx1c1, 1700010I24Rik, b2b811Clo
Accession Numbers
Essential gene? Probably essential (E-score: 0.819) question?
Stock # R5200 (G1)
Quality Score 156
Status Not validated
Chromosome 9
Chromosomal Location 72866067-72880346 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72879713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 418 (S418P)
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: S418P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034734
Gene: ENSMUSG00000092192
AA Change: S418P

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 damaging
Transcript: ENSMUST00000098567
AA Change: S298P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096166
Gene: ENSMUSG00000092192
AA Change: S298P

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T C 5: 4,010,734 (GRCm39) V497A probably benign Het
Alx3 T C 3: 107,507,980 (GRCm39) F163S possibly damaging Het
Ankmy1 T C 1: 92,798,014 (GRCm39) R997G probably benign Het
Arfgef2 T C 2: 166,702,604 (GRCm39) S848P probably benign Het
Atp11b A G 3: 35,891,156 (GRCm39) I810V probably benign Het
C1ql4 T G 15: 98,982,718 (GRCm39) I212L probably benign Het
Cep63 T C 9: 102,475,387 (GRCm39) Y443C probably benign Het
Cfap45 C T 1: 172,372,696 (GRCm39) Q464* probably null Het
Clcn3 T C 8: 61,376,039 (GRCm39) K618R probably damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
H2-M10.2 T G 17: 36,595,641 (GRCm39) R216S probably benign Het
Hook1 A G 4: 95,881,367 (GRCm39) D113G probably damaging Het
Ift122 A G 6: 115,897,340 (GRCm39) E914G probably damaging Het
Insr A G 8: 3,248,059 (GRCm39) probably null Het
Itpr2 A T 6: 146,045,605 (GRCm39) probably null Het
Myo6 C T 9: 80,183,656 (GRCm39) Q684* probably null Het
Nrde2 T A 12: 100,096,756 (GRCm39) I1015F possibly damaging Het
Or12e9 T A 2: 87,202,446 (GRCm39) V190E probably damaging Het
Or2d4 G A 7: 106,544,187 (GRCm39) T7I possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pappa A T 4: 65,074,076 (GRCm39) N210I probably damaging Het
Pax4 G A 6: 28,445,138 (GRCm39) P179L probably damaging Het
Pcx G A 19: 4,668,532 (GRCm39) D656N probably damaging Het
Pms1 T A 1: 53,245,916 (GRCm39) H541L probably benign Het
Pten C T 19: 32,777,291 (GRCm39) P95L probably damaging Het
Rsrc2 G A 5: 123,877,562 (GRCm39) R140* probably null Het
Shc3 T C 13: 51,670,601 (GRCm39) M49V probably damaging Het
Snap91 C G 9: 86,697,497 (GRCm39) K288N probably damaging Het
Spag17 C T 3: 99,970,787 (GRCm39) Q1324* probably null Het
Tasor A G 14: 27,151,183 (GRCm39) E53G probably benign Het
Tfr2 A G 5: 137,569,242 (GRCm39) probably benign Het
Tgfbrap1 A T 1: 43,114,803 (GRCm39) I99K probably damaging Het
Tmem38a T A 8: 73,333,878 (GRCm39) V119E probably damaging Het
Tmtc4 T G 14: 123,182,969 (GRCm39) D243A probably benign Het
Tnc A T 4: 63,889,515 (GRCm39) S1755T probably damaging Het
Trim67 T C 8: 125,551,589 (GRCm39) S590P probably damaging Het
Ttn T A 2: 76,590,287 (GRCm39) T12814S probably damaging Het
Uspl1 T A 5: 149,150,923 (GRCm39) S708T probably benign Het
Vmn2r69 A T 7: 85,055,717 (GRCm39) F807Y probably damaging Het
Vmn2r97 C T 17: 19,148,615 (GRCm39) P170L probably damaging Het
Zfp612 C T 8: 110,816,532 (GRCm39) Q580* probably null 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
R5008:Dnaaf4 UTSW 9 72,879,600 (GRCm39) intron probably benign
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'- AGGAGACCCTGTTTCAGAAAGAC -3'
(R):5'- GAGGACTCAAACAGCCTGTTCTC -3'

Sequencing Primer
(F):5'- CCCTGTTTCAGAAAGACAAAAAGTTG -3'
(R):5'- TGGCCTCAAGCTCATAGAGACTTG -3'
Posted On 2016-07-06