Incidental Mutation 'R5522:Dnaaf9'
ID 501090
Institutional Source Beutler Lab
Gene Symbol Dnaaf9
Ensembl Gene ENSMUSG00000027309
Gene Name dynein axonemal assembly factor 9
Synonyms 4930402H24Rik
MMRRC Submission 043081-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5522 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 130548120-130682565 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 130656222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044766] [ENSMUST00000110243] [ENSMUST00000119422] [ENSMUST00000120316] [ENSMUST00000138990] [ENSMUST00000146975]
AlphaFold no structure available at present
Predicted Effect silent
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 silent
Transcript: ENSMUST00000110243
SMART Domains Protein: ENSMUSP00000105872
Gene: ENSMUSG00000027309

DomainStartEndE-ValueType
low complexity region 134 145 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 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 noncoding transcript
Transcript: ENSMUST00000142128
Predicted Effect probably benign
Transcript: ENSMUST00000146975
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.4%
  • 10x: 93.9%
  • 20x: 85.3%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 T C 8: 84,649,704 (GRCm39) Y121H possibly damaging Het
Agbl5 G A 5: 31,051,247 (GRCm39) probably null Het
Atp13a2 T A 4: 140,731,671 (GRCm39) probably null Het
Cd69 A T 6: 129,248,379 (GRCm39) S36T probably damaging Het
Ceacam5 A T 7: 17,449,005 (GRCm39) I124L probably benign Het
Cerkl T C 2: 79,223,328 (GRCm39) H131R probably benign Het
Cfap57 A T 4: 118,453,085 (GRCm39) N539K probably benign Het
Cyp4x1 C A 4: 114,979,174 (GRCm39) W141L probably damaging Het
Dlgap1 T C 17: 70,823,993 (GRCm39) probably null Het
Dst T C 1: 34,296,954 (GRCm39) I5781T possibly damaging Het
Epha2 T A 4: 141,035,867 (GRCm39) V101E probably damaging Het
Exph5 T C 9: 53,285,613 (GRCm39) F898S possibly damaging Het
Fyco1 G A 9: 123,623,836 (GRCm39) R1398* probably null Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Grb10 T C 11: 11,886,746 (GRCm39) I508V probably benign Het
Igf1r C A 7: 67,833,258 (GRCm39) Q473K probably damaging Het
Ighv1-66 T A 12: 115,556,755 (GRCm39) D109V probably damaging Het
Ipmk C A 10: 71,199,304 (GRCm39) T55K probably benign Het
Kdm2b A G 5: 123,087,225 (GRCm39) Y192H probably damaging Het
Krt32 A T 11: 99,977,497 (GRCm39) probably null Het
Kti12 T A 4: 108,705,620 (GRCm39) L178Q possibly damaging Het
Mchr1 A T 15: 81,122,211 (GRCm39) K320N possibly damaging Het
Mdn1 T C 4: 32,685,783 (GRCm39) L858S probably damaging Het
Myo3a T A 2: 22,464,353 (GRCm39) F198Y probably damaging Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nfatc1 T C 18: 80,696,744 (GRCm39) T647A probably benign Het
Nuf2 A G 1: 169,326,453 (GRCm39) Y433H probably damaging Het
Nup210l T C 3: 90,061,972 (GRCm39) V717A probably benign Het
Or3a1b A G 11: 74,012,484 (GRCm39) Y123C probably damaging Het
Or5h17 A T 16: 58,820,268 (GRCm39) L73F probably benign Het
Or6c35 A T 10: 129,168,798 (GRCm39) D16V probably damaging Het
Pbrm1 A G 14: 30,811,520 (GRCm39) Y1210C probably damaging Het
Pcdhb6 A G 18: 37,467,402 (GRCm39) I108V probably benign Het
Plac8 T A 5: 100,710,584 (GRCm39) T6S probably benign Het
Plbd1 A T 6: 136,594,298 (GRCm39) V317E probably benign Het
Rars1 A T 11: 35,708,195 (GRCm39) Y406* probably null Het
Scamp3 T C 3: 89,084,929 (GRCm39) F11L possibly damaging Het
Sctr A G 1: 119,964,146 (GRCm39) N142S probably benign Het
Sh2d4a T C 8: 68,749,349 (GRCm39) S128P probably benign Het
Snrnp70 C T 7: 45,026,601 (GRCm39) probably benign Het
Taf3 T C 2: 9,945,816 (GRCm39) K596R probably damaging Het
Tango6 T C 8: 107,422,230 (GRCm39) probably null Het
Taok3 A G 5: 117,411,822 (GRCm39) T414A probably benign Het
Tmem104 G A 11: 115,079,149 (GRCm39) probably null Het
Tmem231 T A 8: 112,645,042 (GRCm39) S155C possibly damaging Het
Tssk3 G A 4: 129,383,343 (GRCm39) R110W possibly damaging Het
Ugt2b37 T C 5: 87,388,759 (GRCm39) T485A probably benign Het
Unc5b T C 10: 60,613,974 (GRCm39) K292E possibly damaging Het
Upf3a T A 8: 13,845,497 (GRCm39) probably null Het
Usp24 T A 4: 106,229,918 (GRCm39) V797E probably damaging Het
Vcan T C 13: 89,839,929 (GRCm39) T1872A possibly damaging Het
Vmn1r195 A G 13: 22,463,120 (GRCm39) M197V probably damaging Het
Vmn2r40 T A 7: 8,911,203 (GRCm39) T697S probably benign Het
Xab2 A T 8: 3,661,718 (GRCm39) D578E probably benign Het
Xpo7 A T 14: 70,909,090 (GRCm39) Y810* probably null Het
Zcchc2 A G 1: 105,951,426 (GRCm39) N587S probably benign Het
Zfp189 C T 4: 49,529,739 (GRCm39) R281* probably null Het
Zranb1 T C 7: 132,585,678 (GRCm39) *735R 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
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
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
Predicted Primers
Posted On 2017-12-01