Incidental Mutation 'R2844:Dnaaf11'
ID 251465
Institutional Source Beutler Lab
Gene Symbol Dnaaf11
Ensembl Gene ENSMUSG00000022375
Gene Name dynein axonemal assembly factor 11
Synonyms LRTP, Lrrc6
MMRRC Submission 040437-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R2844 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 66251707-66372759 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 66319525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023006]
AlphaFold O88978
Predicted Effect probably benign
Transcript: ENSMUST00000023006
SMART Domains Protein: ENSMUSP00000023006
Gene: ENSMUSG00000022375

DomainStartEndE-ValueType
internal_repeat_1 23 65 8.03e-6 PROSPERO
internal_repeat_1 68 109 8.03e-6 PROSPERO
LRRcap 128 146 2.42e-2 SMART
low complexity region 178 204 N/A INTRINSIC
low complexity region 277 290 N/A INTRINSIC
low complexity region 397 408 N/A INTRINSIC
low complexity region 449 471 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (42/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 G A 3: 59,843,830 (GRCm39) V175I probably benign Het
Abcb1a A T 5: 8,736,164 (GRCm39) I186F probably benign Het
Afg3l1 T C 8: 124,221,678 (GRCm39) probably benign Het
Atg4a G A X: 139,893,589 (GRCm39) E106K probably benign Het
Ccdc50 A G 16: 27,225,479 (GRCm39) E64G probably damaging Het
Celsr3 G T 9: 108,706,507 (GRCm39) G997W probably damaging Het
Chd8 C T 14: 52,441,952 (GRCm39) E2138K possibly damaging Het
Col19a1 C T 1: 24,598,762 (GRCm39) G77E unknown Het
Fhad1 G T 4: 141,632,279 (GRCm39) Q1287K probably benign Het
Fzr1 G T 10: 81,205,252 (GRCm39) T159K probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gna13 T C 11: 109,253,951 (GRCm39) I51T probably damaging Het
Gorab A G 1: 163,224,375 (GRCm39) probably null Het
Hydin T C 8: 111,245,746 (GRCm39) V2153A probably benign Het
Ints6 A G 14: 62,942,275 (GRCm39) V486A probably damaging Het
Irx2 A G 13: 72,779,709 (GRCm39) K331R probably damaging Het
Mark2 T C 19: 7,264,227 (GRCm39) E116G probably damaging Het
Med14 A T X: 12,550,235 (GRCm39) H684Q probably benign Het
Or1e25 A T 11: 73,494,209 (GRCm39) T268S probably benign Het
Pde5a T C 3: 122,645,357 (GRCm39) L755P probably damaging Het
Pex14 A T 4: 149,047,968 (GRCm39) I203N probably benign Het
Pi4ka T C 16: 17,168,657 (GRCm39) E691G probably damaging Het
Plekha1 G T 7: 130,510,095 (GRCm39) W280C probably damaging Het
Pnoc A T 14: 65,642,284 (GRCm39) F160I probably damaging Het
Ppfia3 C A 7: 45,005,852 (GRCm39) R348L probably damaging Het
Ppil6 A T 10: 41,377,689 (GRCm39) probably benign Het
Psmd13 C A 7: 140,477,653 (GRCm39) probably benign Het
Psme4 T C 11: 30,795,173 (GRCm39) probably benign Het
Rfx3 T C 19: 27,784,186 (GRCm39) probably benign Het
Rnase11 A G 14: 51,287,227 (GRCm39) L109S probably damaging Het
Rngtt A G 4: 33,368,678 (GRCm39) T404A probably benign Het
Sbf1 A G 15: 89,187,421 (GRCm39) probably null Het
Sema5b A G 16: 35,480,301 (GRCm39) N656S probably damaging Het
Ssh3 T C 19: 4,315,324 (GRCm39) Y338C probably damaging Het
Tgfbr3l A G 8: 4,299,280 (GRCm39) D49G probably damaging Het
Thbs1 C T 2: 117,948,109 (GRCm39) T423I probably benign Het
Ttc17 A T 2: 94,206,419 (GRCm39) Y243* probably null Het
Zbtb8os A T 4: 129,235,309 (GRCm39) E54D probably damaging Het
Zfp648 A T 1: 154,080,881 (GRCm39) K347* probably null Het
Zfp84 T G 7: 29,474,758 (GRCm39) probably null Het
Other mutations in Dnaaf11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01292:Dnaaf11 APN 15 66,353,082 (GRCm39) splice site probably benign
IGL01313:Dnaaf11 APN 15 66,252,362 (GRCm39) missense probably benign 0.00
IGL01739:Dnaaf11 APN 15 66,321,326 (GRCm39) missense probably benign
IGL01863:Dnaaf11 APN 15 66,268,823 (GRCm39) splice site probably benign
IGL02074:Dnaaf11 APN 15 66,361,339 (GRCm39) missense probably damaging 1.00
IGL02146:Dnaaf11 APN 15 66,361,375 (GRCm39) missense probably benign 0.08
IGL02146:Dnaaf11 APN 15 66,361,374 (GRCm39) nonsense probably null
IGL03194:Dnaaf11 APN 15 66,314,048 (GRCm39) missense probably benign 0.03
droopy UTSW 15 66,319,525 (GRCm39) splice site probably benign
R0087:Dnaaf11 UTSW 15 66,341,824 (GRCm39) missense probably benign 0.00
R0178:Dnaaf11 UTSW 15 66,325,950 (GRCm39) missense probably benign 0.05
R0463:Dnaaf11 UTSW 15 66,252,323 (GRCm39) missense probably benign
R0539:Dnaaf11 UTSW 15 66,319,455 (GRCm39) missense probably damaging 0.99
R0608:Dnaaf11 UTSW 15 66,252,323 (GRCm39) missense probably benign
R1124:Dnaaf11 UTSW 15 66,310,264 (GRCm39) missense possibly damaging 0.92
R2209:Dnaaf11 UTSW 15 66,321,400 (GRCm39) missense probably benign 0.00
R2257:Dnaaf11 UTSW 15 66,309,436 (GRCm39) splice site probably benign
R2867:Dnaaf11 UTSW 15 66,310,257 (GRCm39) nonsense probably null
R2867:Dnaaf11 UTSW 15 66,310,257 (GRCm39) nonsense probably null
R4281:Dnaaf11 UTSW 15 66,252,378 (GRCm39) missense probably benign 0.35
R5163:Dnaaf11 UTSW 15 66,314,067 (GRCm39) missense probably benign 0.01
R5636:Dnaaf11 UTSW 15 66,372,665 (GRCm39) splice site probably null
R6365:Dnaaf11 UTSW 15 66,325,983 (GRCm39) missense probably benign 0.00
R6567:Dnaaf11 UTSW 15 66,310,228 (GRCm39) missense probably benign 0.43
R7751:Dnaaf11 UTSW 15 66,321,412 (GRCm39) missense probably benign 0.00
R7774:Dnaaf11 UTSW 15 66,321,401 (GRCm39) missense probably benign 0.01
R7963:Dnaaf11 UTSW 15 66,252,366 (GRCm39) missense probably damaging 1.00
R9018:Dnaaf11 UTSW 15 66,321,479 (GRCm39) missense probably benign 0.01
R9499:Dnaaf11 UTSW 15 66,361,483 (GRCm39) missense probably damaging 0.97
Z1177:Dnaaf11 UTSW 15 66,341,748 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GGGTCAACATGTTCTAGTCAAACC -3'
(R):5'- CCCTGGCAAATTGTTTTGGTC -3'

Sequencing Primer
(F):5'- GTTCTAGTCAAACCAAGCCTGTGG -3'
(R):5'- TTAAGGGGACAGACTCTCGATG -3'
Posted On 2014-12-04