Incidental Mutation 'R6732:Dnaaf9'
ID 530095
Institutional Source Beutler Lab
Gene Symbol Dnaaf9
Ensembl Gene ENSMUSG00000027309
Gene Name dynein axonemal assembly factor 9
Synonyms 4930402H24Rik
MMRRC Submission 044850-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6732 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 130548120-130682565 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 130652740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044766] [ENSMUST00000110243] [ENSMUST00000119422] [ENSMUST00000120316] [ENSMUST00000138990] [ENSMUST00000146975]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000044766
SMART Domains Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309

DomainStartEndE-ValueType
low complexity region 134 145 N/A INTRINSIC
low complexity region 463 473 N/A INTRINSIC
low complexity region 533 545 N/A INTRINSIC
coiled coil region 1143 1171 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000110243
SMART Domains Protein: ENSMUSP00000105872
Gene: ENSMUSG00000027309

DomainStartEndE-ValueType
low complexity region 134 145 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000119422
SMART Domains Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
low complexity region 332 342 N/A INTRINSIC
low complexity region 402 414 N/A INTRINSIC
coiled coil region 1012 1040 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120316
SMART Domains Protein: ENSMUSP00000112540
Gene: ENSMUSG00000027309

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123049
Predicted Effect probably benign
Transcript: ENSMUST00000138990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148924
Predicted Effect probably benign
Transcript: ENSMUST00000146975
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142128
Meta Mutation Damage Score 0.9499 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 98% (43/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A G 2: 69,117,190 (GRCm39) I486T probably damaging Het
Abcc5 T C 16: 20,223,434 (GRCm39) N158S probably benign Het
AI182371 G T 2: 34,974,717 (GRCm39) probably benign Het
Ap1ar G A 3: 127,609,334 (GRCm39) Q96* probably null Het
Cd101 C T 3: 100,915,515 (GRCm39) S684N probably benign Het
Cdh16 T G 8: 105,345,165 (GRCm39) I375L probably benign Het
Chchd6 A G 6: 89,551,436 (GRCm39) V75A probably benign Het
Coro2a A T 4: 46,551,374 (GRCm39) N110K probably damaging Het
Cyp2c69 A G 19: 39,869,943 (GRCm39) V93A probably benign Het
Egln3 C T 12: 54,227,427 (GRCm39) A235T probably benign Het
Fryl T C 5: 73,212,124 (GRCm39) T2335A probably damaging Het
Fzd3 T C 14: 65,473,252 (GRCm39) D172G probably benign Het
Galnt2 T A 8: 125,067,561 (GRCm39) W447R probably damaging Het
Iqce A G 5: 140,660,990 (GRCm39) L450P probably benign Het
Ly9 T C 1: 171,421,653 (GRCm39) T533A possibly damaging Het
Map3k19 A C 1: 127,751,969 (GRCm39) F257V probably benign Het
Mroh7 GTT GTTT 4: 106,537,910 (GRCm39) probably null Het
Or5ac20 A T 16: 59,104,314 (GRCm39) V182E probably benign Het
Pcdhb11 A T 18: 37,555,197 (GRCm39) I176F probably benign Het
Pigp A C 16: 94,166,300 (GRCm39) L96R probably damaging Het
Pkd1 A G 17: 24,788,387 (GRCm39) D715G probably damaging Het
Plxnd1 A C 6: 115,946,890 (GRCm39) L828R possibly damaging Het
Pramel15 C T 4: 144,099,743 (GRCm39) V341I probably benign Het
Psmd2 T A 16: 20,481,386 (GRCm39) S814T probably benign Het
Pusl1 A G 4: 155,975,573 (GRCm39) S87P probably benign Het
Rgs3 T A 4: 62,521,180 (GRCm39) D34E probably benign Het
Rhof A G 5: 123,269,999 (GRCm39) F53L probably damaging Het
Sik3 C A 9: 46,123,851 (GRCm39) P1217T probably benign Het
Skic2 G A 17: 35,064,166 (GRCm39) R507* probably null Het
Slc14a2 A G 18: 78,235,389 (GRCm39) Y263H probably damaging Het
Slc26a4 C T 12: 31,576,599 (GRCm39) probably null Het
Smyd3 T G 1: 179,223,395 (GRCm39) H178P probably benign Het
Thada T C 17: 84,761,842 (GRCm39) probably null Het
Top1mt A C 15: 75,541,337 (GRCm39) probably null Het
Trim17 A T 11: 58,861,851 (GRCm39) probably null Het
Ttn A T 2: 76,770,395 (GRCm39) F2599I possibly damaging Het
Tuba3a A T 6: 125,258,608 (GRCm39) D127E probably benign Het
Ucp1 A G 8: 84,018,106 (GRCm39) T68A probably benign Het
Vmn2r69 A G 7: 85,060,351 (GRCm39) V411A probably benign Het
Vmn2r74 A T 7: 85,606,758 (GRCm39) V196E probably damaging Het
Wdr59 T C 8: 112,227,684 (GRCm39) Y131C probably damaging Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zbtb21 G T 16: 97,752,282 (GRCm39) S667Y probably damaging Het
Other mutations in Dnaaf9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00556:Dnaaf9 APN 2 130,626,377 (GRCm39) missense probably benign 0.00
IGL01093:Dnaaf9 APN 2 130,619,156 (GRCm39) missense probably benign 0.01
IGL01111:Dnaaf9 APN 2 130,578,518 (GRCm39) missense possibly damaging 0.66
IGL01146:Dnaaf9 APN 2 130,612,591 (GRCm39) critical splice donor site probably null
IGL01346:Dnaaf9 APN 2 130,633,766 (GRCm39) splice site probably benign
IGL01548:Dnaaf9 APN 2 130,656,179 (GRCm39) missense probably damaging 1.00
IGL02339:Dnaaf9 APN 2 130,581,385 (GRCm39) missense probably damaging 0.97
IGL02637:Dnaaf9 APN 2 130,656,227 (GRCm39) intron probably benign
IGL02926:Dnaaf9 APN 2 130,554,286 (GRCm39) missense probably benign 0.00
IGL02978:Dnaaf9 APN 2 130,569,082 (GRCm39) missense probably damaging 0.99
IGL03126:Dnaaf9 APN 2 130,633,915 (GRCm39) splice site probably null
IGL03387:Dnaaf9 APN 2 130,559,200 (GRCm39) missense probably damaging 1.00
best_times UTSW 2 130,578,496 (GRCm39) missense probably damaging 0.99
Hard_times UTSW 2 130,555,390 (GRCm39) missense probably benign 0.16
worst_times UTSW 2 130,555,334 (GRCm39) missense probably damaging 1.00
FR4304:Dnaaf9 UTSW 2 130,612,668 (GRCm39) small insertion probably benign
FR4342:Dnaaf9 UTSW 2 130,612,662 (GRCm39) small insertion probably benign
FR4589:Dnaaf9 UTSW 2 130,612,672 (GRCm39) small insertion probably benign
FR4589:Dnaaf9 UTSW 2 130,612,665 (GRCm39) small insertion probably benign
FR4737:Dnaaf9 UTSW 2 130,612,672 (GRCm39) small insertion probably benign
FR4976:Dnaaf9 UTSW 2 130,612,673 (GRCm39) small insertion probably benign
FR4976:Dnaaf9 UTSW 2 130,612,662 (GRCm39) small insertion probably benign
FR4976:Dnaaf9 UTSW 2 130,612,659 (GRCm39) small insertion probably benign
R0034:Dnaaf9 UTSW 2 130,578,492 (GRCm39) missense probably damaging 1.00
R0034:Dnaaf9 UTSW 2 130,578,492 (GRCm39) missense probably damaging 1.00
R0357:Dnaaf9 UTSW 2 130,554,866 (GRCm39) splice site probably benign
R0379:Dnaaf9 UTSW 2 130,627,466 (GRCm39) splice site probably benign
R0515:Dnaaf9 UTSW 2 130,582,408 (GRCm39) missense probably damaging 1.00
R0576:Dnaaf9 UTSW 2 130,555,390 (GRCm39) missense probably benign 0.16
R0811:Dnaaf9 UTSW 2 130,555,334 (GRCm39) missense probably damaging 1.00
R0812:Dnaaf9 UTSW 2 130,555,334 (GRCm39) missense probably damaging 1.00
R1334:Dnaaf9 UTSW 2 130,617,642 (GRCm39) splice site probably null
R1485:Dnaaf9 UTSW 2 130,590,603 (GRCm39) critical splice donor site probably null
R1486:Dnaaf9 UTSW 2 130,579,338 (GRCm39) missense probably damaging 1.00
R1670:Dnaaf9 UTSW 2 130,554,299 (GRCm39) missense probably damaging 1.00
R1678:Dnaaf9 UTSW 2 130,656,193 (GRCm39) missense probably damaging 0.99
R1700:Dnaaf9 UTSW 2 130,551,858 (GRCm39) missense probably damaging 0.99
R1742:Dnaaf9 UTSW 2 130,582,315 (GRCm39) splice site probably null
R2046:Dnaaf9 UTSW 2 130,652,837 (GRCm39) missense possibly damaging 0.61
R2374:Dnaaf9 UTSW 2 130,662,494 (GRCm39) missense probably damaging 1.00
R3878:Dnaaf9 UTSW 2 130,620,423 (GRCm39) missense possibly damaging 0.92
R3907:Dnaaf9 UTSW 2 130,578,496 (GRCm39) missense probably damaging 0.99
R4467:Dnaaf9 UTSW 2 130,609,567 (GRCm39) missense probably damaging 0.96
R4931:Dnaaf9 UTSW 2 130,583,793 (GRCm39) missense possibly damaging 0.58
R5098:Dnaaf9 UTSW 2 130,640,101 (GRCm39) missense probably damaging 0.99
R5191:Dnaaf9 UTSW 2 130,579,323 (GRCm39) missense possibly damaging 0.68
R5313:Dnaaf9 UTSW 2 130,551,188 (GRCm39) missense probably damaging 1.00
R5405:Dnaaf9 UTSW 2 130,554,380 (GRCm39) missense probably damaging 1.00
R5436:Dnaaf9 UTSW 2 130,606,419 (GRCm39) missense probably benign 0.16
R5522:Dnaaf9 UTSW 2 130,656,222 (GRCm39) intron probably benign
R5783:Dnaaf9 UTSW 2 130,581,003 (GRCm39) missense possibly damaging 0.59
R5931:Dnaaf9 UTSW 2 130,656,109 (GRCm39) missense probably damaging 1.00
R6145:Dnaaf9 UTSW 2 130,620,393 (GRCm39) missense probably benign
R6938:Dnaaf9 UTSW 2 130,617,673 (GRCm39) missense probably benign 0.00
R7161:Dnaaf9 UTSW 2 130,648,708 (GRCm39) missense unknown
R7193:Dnaaf9 UTSW 2 130,648,708 (GRCm39) missense unknown
R7194:Dnaaf9 UTSW 2 130,648,708 (GRCm39) missense unknown
R7233:Dnaaf9 UTSW 2 130,648,708 (GRCm39) missense unknown
R7234:Dnaaf9 UTSW 2 130,648,708 (GRCm39) missense unknown
R7238:Dnaaf9 UTSW 2 130,648,708 (GRCm39) missense unknown
R7239:Dnaaf9 UTSW 2 130,648,708 (GRCm39) missense unknown
R7268:Dnaaf9 UTSW 2 130,648,708 (GRCm39) missense unknown
R7807:Dnaaf9 UTSW 2 130,552,785 (GRCm39) missense probably damaging 1.00
R7904:Dnaaf9 UTSW 2 130,633,923 (GRCm39) splice site probably null
R7999:Dnaaf9 UTSW 2 130,579,372 (GRCm39) missense probably benign 0.00
R8047:Dnaaf9 UTSW 2 130,617,019 (GRCm39) missense probably damaging 0.98
R8286:Dnaaf9 UTSW 2 130,559,248 (GRCm39) missense probably damaging 1.00
R8315:Dnaaf9 UTSW 2 130,612,655 (GRCm39) small deletion probably benign
R8439:Dnaaf9 UTSW 2 130,612,621 (GRCm39) missense probably damaging 1.00
R8925:Dnaaf9 UTSW 2 130,579,300 (GRCm39) nonsense probably null
R8927:Dnaaf9 UTSW 2 130,579,300 (GRCm39) nonsense probably null
R9070:Dnaaf9 UTSW 2 130,654,793 (GRCm39) missense possibly damaging 0.61
R9367:Dnaaf9 UTSW 2 130,581,380 (GRCm39) missense probably benign 0.00
R9558:Dnaaf9 UTSW 2 130,617,660 (GRCm39) missense probably damaging 1.00
R9565:Dnaaf9 UTSW 2 130,648,711 (GRCm39) missense unknown
R9758:Dnaaf9 UTSW 2 130,554,938 (GRCm39) missense probably damaging 0.99
RF027:Dnaaf9 UTSW 2 130,612,664 (GRCm39) small insertion probably benign
RF038:Dnaaf9 UTSW 2 130,612,664 (GRCm39) nonsense probably null
RF046:Dnaaf9 UTSW 2 130,612,654 (GRCm39) nonsense probably null
RF048:Dnaaf9 UTSW 2 130,612,654 (GRCm39) nonsense probably null
Z1177:Dnaaf9 UTSW 2 130,552,787 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- AGACTCGCTCTCACCTATTAAC -3'
(R):5'- TGCGATTGGGTCCAACTGTC -3'

Sequencing Primer
(F):5'- CCTCTCTCAAAAGACATTTATTGGTC -3'
(R):5'- CCAACTGTCCGGGATGGTATTTG -3'
Posted On 2018-08-01