Incidental Mutation 'IGL01346:Dnaaf9'
ID 75072
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnaaf9
Ensembl Gene ENSMUSG00000027309
Gene Name dynein axonemal assembly factor 9
Synonyms 4930402H24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01346
Quality Score
Status
Chromosome 2
Chromosomal Location 130548120-130682565 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 130633766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044766] [ENSMUST00000119422]
AlphaFold no structure available at present
Predicted Effect probably benign
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 benign
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 noncoding transcript
Transcript: ENSMUST00000123049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148924
Coding Region Coverage
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik A G 2: 150,152,980 (GRCm39) V135A unknown Het
Cnot4 A T 6: 35,047,183 (GRCm39) I143N probably damaging Het
Cnot6l A T 5: 96,234,105 (GRCm39) M302K probably damaging Het
Dmxl2 T C 9: 54,322,759 (GRCm39) T1542A probably damaging Het
Dnhd1 T C 7: 105,363,116 (GRCm39) S3893P probably benign Het
Duox2 A T 2: 122,117,683 (GRCm39) probably benign Het
Dusp1 T C 17: 26,725,295 (GRCm39) N355D probably benign Het
Fam76b T C 9: 13,741,046 (GRCm39) C60R probably damaging Het
Gnptab G A 10: 88,272,041 (GRCm39) V944I possibly damaging Het
Gys1 A G 7: 45,091,961 (GRCm39) Y249C probably damaging Het
Ift88 A T 14: 57,681,862 (GRCm39) E215D probably damaging Het
Kcnu1 T C 8: 26,424,551 (GRCm39) probably benign Het
Lmln C A 16: 32,937,490 (GRCm39) N618K probably benign Het
Lrrc75a T C 11: 62,496,813 (GRCm39) T250A probably damaging Het
Mpp4 A G 1: 59,164,719 (GRCm39) S435P probably damaging Het
Myo1c T A 11: 75,563,076 (GRCm39) V1036E probably damaging Het
Nlrp12 T G 7: 3,289,316 (GRCm39) T399P probably damaging Het
Or2y16 A G 11: 49,335,595 (GRCm39) R306G probably benign Het
Or4c118 A G 2: 88,974,575 (GRCm39) F264S possibly damaging Het
Parp8 A T 13: 117,031,600 (GRCm39) C332S possibly damaging Het
Pdcd11 G A 19: 47,098,053 (GRCm39) V780I probably benign Het
Plekha5 A G 6: 140,480,292 (GRCm39) probably benign Het
Ppt1 T A 4: 122,737,848 (GRCm39) I62K probably damaging Het
Proser3 T C 7: 30,249,071 (GRCm39) N7S probably benign Het
Ptk2b A G 14: 66,414,567 (GRCm39) L311P possibly damaging Het
Rasal2 T C 1: 156,988,786 (GRCm39) N706S probably benign Het
Ripk2 A G 4: 16,132,775 (GRCm39) probably null Het
Setx T A 2: 29,034,821 (GRCm39) H435Q probably damaging Het
Smurf2 T A 11: 106,721,741 (GRCm39) probably benign Het
Snx32 A G 19: 5,547,764 (GRCm39) L182P possibly damaging Het
Stpg2 A G 3: 139,125,635 (GRCm39) probably benign Het
Taar2 A G 10: 23,816,997 (GRCm39) Y179C probably damaging Het
Tenm2 G A 11: 35,918,232 (GRCm39) R1843* probably null Het
Tmco4 T C 4: 138,748,260 (GRCm39) I280T probably damaging Het
Tuba4a C A 1: 75,193,921 (GRCm39) C46F probably damaging Het
Ubr1 A G 2: 120,703,603 (GRCm39) probably null Het
Vldlr A T 19: 27,217,081 (GRCm39) I45L possibly damaging Het
Vmn2r120 C A 17: 57,852,232 (GRCm39) G28V probably benign Het
Vmn2r37 C A 7: 9,209,680 (GRCm39) V611L probably benign Het
Vmn2r67 A G 7: 84,786,127 (GRCm39) L626P probably damaging Het
Wdr19 C T 5: 65,379,082 (GRCm39) probably benign Het
Zfp595 T A 13: 67,464,749 (GRCm39) K505* probably null 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
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
R6732:Dnaaf9 UTSW 2 130,652,740 (GRCm39) critical splice donor site probably null
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
Posted On 2013-10-07