Incidental Mutation 'R6365:Dnaaf11'
ID 512661
Institutional Source Beutler Lab
Gene Symbol Dnaaf11
Ensembl Gene ENSMUSG00000022375
Gene Name dynein axonemal assembly factor 11
Synonyms LRTP, Lrrc6
MMRRC Submission 044515-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R6365 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 66251707-66372759 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 66325983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 197 (S197R)
Ref Sequence ENSEMBL: ENSMUSP00000023006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023006]
AlphaFold O88978
Predicted Effect probably benign
Transcript: ENSMUST00000023006
AA Change: S197R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023006
Gene: ENSMUSG00000022375
AA Change: S197R

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.8%
Validation Efficiency 98% (57/58)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik G T 5: 113,330,510 (GRCm39) R1235S probably benign Het
Abca9 T A 11: 110,036,481 (GRCm39) I543F possibly damaging Het
Acot6 A G 12: 84,156,186 (GRCm39) E378G probably benign Het
Adam30 T C 3: 98,068,350 (GRCm39) L61S probably damaging Het
Agap3 T A 5: 24,679,983 (GRCm39) L227Q probably benign Het
Ap5m1 T C 14: 49,316,285 (GRCm39) I285T probably benign Het
Atp2a2 A G 5: 122,599,979 (GRCm39) Y497H probably benign Het
Bace1 C T 9: 45,765,974 (GRCm39) Q17* probably null Het
Calcr T C 6: 3,711,455 (GRCm39) I189V probably benign Het
Cd48 A T 1: 171,509,732 (GRCm39) Q24L probably null Het
Cnga1 T C 5: 72,762,288 (GRCm39) I409V probably benign Het
Ctsd G A 7: 141,939,314 (GRCm39) T37M probably benign Het
Cyp2c29 T C 19: 39,296,198 (GRCm39) S171P probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Drd2 A T 9: 49,318,249 (GRCm39) N397I probably damaging Het
Dst A G 1: 34,231,008 (GRCm39) E3045G probably damaging Het
Dzip3 T A 16: 48,751,636 (GRCm39) R764S probably damaging Het
Efcab3 A G 11: 104,815,412 (GRCm39) E3247G unknown Het
Exosc10 T C 4: 148,645,562 (GRCm39) V114A probably benign Het
Fam234a C A 17: 26,439,429 (GRCm39) E32* probably null Het
Fbxw11 C A 11: 32,670,623 (GRCm39) D162E possibly damaging Het
Fcho2 A T 13: 98,926,367 (GRCm39) M72K probably benign Het
Fech T C 18: 64,591,251 (GRCm39) N391S probably benign Het
Foxp2 T C 6: 15,286,684 (GRCm39) L58P probably damaging Het
Gdi2 A G 13: 3,615,093 (GRCm39) D430G possibly damaging Het
Grm8 C T 6: 27,363,226 (GRCm39) C763Y probably damaging Het
H2bc6 C T 13: 23,769,641 (GRCm39) R100H probably benign Het
Hibch T A 1: 52,908,096 (GRCm39) probably null Het
Ifi44l C T 3: 151,467,142 (GRCm39) V63I unknown Het
Igf1r G T 7: 67,839,798 (GRCm39) A702S probably benign Het
Kctd13 G A 7: 126,529,862 (GRCm39) R101Q probably damaging Het
Klhl33 T C 14: 51,129,294 (GRCm39) D645G probably benign Het
Mylk A G 16: 34,680,961 (GRCm39) T74A probably benign Het
Myo1f A G 17: 33,805,090 (GRCm39) S453G probably benign Het
Naxe A G 3: 87,965,298 (GRCm39) V105A probably damaging Het
Nid2 A G 14: 19,853,201 (GRCm39) Y1140C probably damaging Het
Nlrp12 T C 7: 3,288,518 (GRCm39) T665A probably benign Het
Or51l4 T A 7: 103,404,402 (GRCm39) H130L probably benign Het
Otud7b T G 3: 96,062,567 (GRCm39) I602S probably benign Het
Pakap G T 4: 57,709,675 (GRCm39) G207* probably null Het
Papolg T C 11: 23,832,290 (GRCm39) D166G probably damaging Het
Pbx4 T G 8: 70,324,857 (GRCm39) probably null Het
Pdcd4 T C 19: 53,910,564 (GRCm39) probably null Het
Pde2a C T 7: 101,159,570 (GRCm39) T800I probably damaging Het
Polk A T 13: 96,620,517 (GRCm39) V582E probably damaging Het
Prss40 A G 1: 34,591,598 (GRCm39) probably benign Het
Robo4 G T 9: 37,322,008 (GRCm39) R597L probably benign Het
Scg2 T A 1: 79,413,017 (GRCm39) I529F probably benign Het
Sema7a T C 9: 57,862,188 (GRCm39) F180L probably benign Het
Sowahc T C 10: 59,059,349 (GRCm39) L495P probably damaging Het
Trf A G 9: 103,099,327 (GRCm39) V324A possibly damaging Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Vip C T 10: 5,594,021 (GRCm39) R125* probably null Het
Vmn1r159 T A 7: 22,542,826 (GRCm39) T69S probably damaging Het
Vmn1r202 A T 13: 22,686,374 (GRCm39) F14L probably benign Het
Vmn1r53 T C 6: 90,201,241 (GRCm39) N28D probably damaging Het
Vmn2r58 T A 7: 41,513,607 (GRCm39) K345N probably benign Het
Zbtb17 G A 4: 141,190,694 (GRCm39) G171S probably benign Het
Zbtb8os A T 4: 129,236,945 (GRCm39) N120I possibly damaging Het
Zfp959 T A 17: 56,204,785 (GRCm39) L274H 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
R5636:Dnaaf11 UTSW 15 66,372,665 (GRCm39) splice site probably null
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'- AGCCAAGCTTACTGTGATGTC -3'
(R):5'- GGTGCTTTGTAAACTATAAGGCTTG -3'

Sequencing Primer
(F):5'- GCCAAGCTTACTGTGATGTCATGTTC -3'
(R):5'- GAATCACCTTGCTCAGCTGAAGTG -3'
Posted On 2018-04-27