Incidental Mutation 'R5636:Dnaaf11'
ID 440393
Institutional Source Beutler Lab
Gene Symbol Dnaaf11
Ensembl Gene ENSMUSG00000022375
Gene Name dynein axonemal assembly factor 11
Synonyms LRTP, Lrrc6
MMRRC Submission 043287-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R5636 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 66251707-66372759 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 66372665 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 null
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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf C T 19: 31,922,382 (GRCm39) Q448* probably null Het
Abca5 A G 11: 110,192,362 (GRCm39) Y717H probably benign Het
Abcg2 T A 6: 58,649,041 (GRCm39) D295E probably damaging Het
Accsl C T 2: 93,699,370 (GRCm39) E7K probably benign Het
Acvr2b A G 9: 119,257,375 (GRCm39) Y152C probably damaging Het
Akap13 A G 7: 75,354,120 (GRCm39) E1747G probably damaging Het
Arpp19 C T 9: 74,945,215 (GRCm39) probably benign Het
Atp10d A G 5: 72,445,562 (GRCm39) Y74C probably damaging Het
Atp6v0b T C 4: 117,743,582 (GRCm39) probably benign Het
Bms1 C A 6: 118,365,786 (GRCm39) M1133I probably benign Het
Bysl A C 17: 47,913,648 (GRCm39) D259E probably benign Het
Capn1 A T 19: 6,064,472 (GRCm39) V9E probably benign Het
Cdkl2 T C 5: 92,181,601 (GRCm39) I127V probably benign Het
Cyp2c38 G A 19: 39,426,750 (GRCm39) Q184* probably null Het
Cypt12 C T 3: 18,002,749 (GRCm39) R41C probably benign Het
Fat2 T C 11: 55,173,307 (GRCm39) I2469V probably damaging Het
Fbxo38 A G 18: 62,644,089 (GRCm39) V923A possibly damaging Het
Gm13889 A G 2: 93,787,031 (GRCm39) C148R probably damaging Het
Gpd1 A T 15: 99,619,939 (GRCm39) T223S probably benign Het
Hcrtr1 C A 4: 130,024,738 (GRCm39) G383C possibly damaging Het
Hivep1 C T 13: 42,316,932 (GRCm39) P2047S possibly damaging Het
Islr2 T C 9: 58,108,584 (GRCm39) T35A probably benign Het
Lgr6 T C 1: 134,914,816 (GRCm39) D644G probably benign Het
Mdn1 C T 4: 32,695,480 (GRCm39) T1173I probably damaging Het
Mon1a T C 9: 107,778,439 (GRCm39) V221A probably damaging Het
Mrgprb4 A G 7: 47,848,218 (GRCm39) C237R probably benign Het
Myo1b A G 1: 51,836,687 (GRCm39) M264T probably damaging Het
Naxd A G 8: 11,552,676 (GRCm39) N32S probably benign Het
Nlrp12 A T 7: 3,273,926 (GRCm39) L1010Q probably damaging Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Nuggc A T 14: 65,885,637 (GRCm39) K755* probably null Het
Or2av9 T C 11: 58,380,877 (GRCm39) K235E probably damaging Het
Or9i2 C T 19: 13,815,701 (GRCm39) V279M possibly damaging Het
Pik3ca G A 3: 32,515,709 (GRCm39) R794Q probably damaging Het
Pnp2 A G 14: 51,193,649 (GRCm39) probably null Het
Ric3 G A 7: 108,638,027 (GRCm39) T242I probably damaging Het
Rnf213 A C 11: 119,327,731 (GRCm39) Q1906P probably damaging Het
Rnf213 G A 11: 119,327,455 (GRCm39) R1814K probably benign Het
Rufy2 T A 10: 62,833,733 (GRCm39) I265N probably damaging Het
Scap G T 9: 110,209,662 (GRCm39) G744C probably damaging Het
Serpinb3c T C 1: 107,202,744 (GRCm39) Q88R possibly damaging Het
Sf3b1 T C 1: 55,036,352 (GRCm39) D907G probably damaging Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc4a3 C T 1: 75,530,860 (GRCm39) L749F possibly damaging Het
Smtn T G 11: 3,467,829 (GRCm39) probably null Het
Spag9 C A 11: 93,959,838 (GRCm39) D342E probably damaging Het
Sptbn5 G A 2: 119,887,885 (GRCm39) probably benign Het
Stam G T 2: 14,122,238 (GRCm39) M112I probably damaging Het
Tex35 C T 1: 156,927,794 (GRCm39) W125* probably null Het
Tmem215 A G 4: 40,474,394 (GRCm39) E157G probably damaging Het
Traf6 G A 2: 101,527,254 (GRCm39) V335M probably benign Het
Ubr5 T A 15: 37,984,240 (GRCm39) K2302N probably damaging Het
Vmn2r78 A G 7: 86,603,637 (GRCm39) H605R probably damaging 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
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'- GAATCTGAGGAGTACTGGGC -3'
(R):5'- GGACTGCTCCAAAGAAAGCC -3'

Sequencing Primer
(F):5'- TCTGAGGAGTACTGGGCAGAAG -3'
(R):5'- TCAGGGACAGTGGAGCTTGC -3'
Posted On 2016-11-08