Incidental Mutation 'R7963:Dnaaf11'
ID 650237
Institutional Source Beutler Lab
Gene Symbol Dnaaf11
Ensembl Gene ENSMUSG00000022375
Gene Name dynein axonemal assembly factor 11
Synonyms LRTP, Lrrc6
MMRRC Submission 046006-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R7963 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 66251707-66372759 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 66252366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 433 (D433E)
Ref Sequence ENSEMBL: ENSMUSP00000023006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023006]
AlphaFold O88978
Predicted Effect probably damaging
Transcript: ENSMUST00000023006
AA Change: D433E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023006
Gene: ENSMUSG00000022375
AA Change: D433E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,340,673 (GRCm39) K101E probably benign Het
4930407I10Rik A G 15: 81,948,137 (GRCm39) K678R possibly damaging Het
Akr1b10 G C 6: 34,364,643 (GRCm39) A35P possibly damaging Het
Arhgef10l T C 4: 140,306,736 (GRCm39) E106G probably damaging Het
Atp9a T C 2: 168,516,732 (GRCm39) Y445C probably damaging Het
Btbd18 T C 2: 84,498,239 (GRCm39) S626P probably benign Het
Cdh23 A T 10: 60,171,967 (GRCm39) N1738K probably damaging Het
Cdv3 T C 9: 103,241,210 (GRCm39) D119G probably damaging Het
Cep295 A G 9: 15,244,737 (GRCm39) F1240L possibly damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Ctsr C A 13: 61,310,276 (GRCm39) V127L probably damaging Het
Dlg1 G A 16: 31,609,119 (GRCm39) R271Q probably null Het
Dnajc1 G A 2: 18,227,535 (GRCm39) T377I possibly damaging Het
F2rl3 T C 8: 73,489,333 (GRCm39) Y187H probably damaging Het
Fgf1 A T 18: 38,980,167 (GRCm39) V69E probably damaging Het
Garem1 T C 18: 21,281,844 (GRCm39) K171E probably damaging Het
H3c13 C A 3: 96,176,309 (GRCm39) Y100* probably null Het
Il2ra G A 2: 11,679,235 (GRCm39) R65H probably benign Het
Lrp1b T C 2: 40,817,947 (GRCm39) I2428V Het
Lrp3 G A 7: 34,902,404 (GRCm39) Q579* probably null Het
Ncoa6 G A 2: 155,247,916 (GRCm39) T1796I probably benign Het
Ncor1 T C 11: 62,225,359 (GRCm39) I747V probably benign Het
Nfkb2 C T 19: 46,298,358 (GRCm39) T554M possibly damaging Het
Nrde2 T C 12: 100,116,127 (GRCm39) D119G probably damaging Het
Odf2 C A 2: 29,816,112 (GRCm39) Q720K probably benign Het
Or4c52 T C 2: 89,846,003 (GRCm39) V243A possibly damaging Het
Or4k41 T A 2: 111,279,971 (GRCm39) L162Q possibly damaging Het
Or5w1b C T 2: 87,475,769 (GRCm39) E233K probably benign Het
Or8k33 T C 2: 86,383,639 (GRCm39) I276M possibly damaging Het
Pcx T C 19: 4,652,034 (GRCm39) V94A probably damaging Het
Pdxdc1 A T 16: 13,694,030 (GRCm39) Y131N possibly damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Plod2 A G 9: 92,487,499 (GRCm39) H606R probably benign Het
Ptp4a2 A G 4: 129,733,237 (GRCm39) probably benign Het
Rsl1 A G 13: 67,330,173 (GRCm39) E207G probably damaging Het
Slc28a3 A G 13: 58,724,580 (GRCm39) Y225H probably damaging Het
Spag17 T A 3: 99,929,954 (GRCm39) M551K probably benign Het
Ssh2 C A 11: 77,312,182 (GRCm39) A231D possibly damaging Het
Stab2 A G 10: 86,683,887 (GRCm39) probably null Het
Stac2 T C 11: 97,932,403 (GRCm39) T197A probably benign Het
Syne2 T A 12: 76,067,174 (GRCm39) L4291Q probably benign Het
Vmn2r38 A T 7: 9,095,854 (GRCm39) D179E probably benign Het
Zfp597 T C 16: 3,689,022 (GRCm39) D51G probably benign Het
Zfp64 A T 2: 168,793,538 (GRCm39) F69L probably benign 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
R2844:Dnaaf11 UTSW 15 66,319,525 (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
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'- TGAATGACACATAGCCACTGTC -3'
(R):5'- AAACCAAGGACAGTGTTTCTTTGC -3'

Sequencing Primer
(F):5'- GTCAACACCAAGCAACATGAGTCTG -3'
(R):5'- CAAGGACAGTGTTTCTTTGCAATCTC -3'
Posted On 2020-09-15