Incidental Mutation 'RF027:Dnaaf9'
ID 604181
Institutional Source Beutler Lab
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 # RF027 (G1)
Quality Score 191.468
Status Not validated
Chromosome 2
Chromosomal Location 130548120-130682565 bp(-) (GRCm39)
Type of Mutation small insertion (1 aa in frame mutation)
DNA Base Change (assembly) CTC to CTCGTC at 130612664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 probably benign
Transcript: ENSMUST00000145851
SMART Domains Protein: ENSMUSP00000118946
Gene: ENSMUSG00000027309

DomainStartEndE-ValueType
low complexity region 6 16 N/A INTRINSIC
low complexity region 76 88 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Blm CCTCCTCCTCCTC CCTCCTCCTCCTCTCCTCCTCCTC 7: 80,162,662 (GRCm39) probably null Het
Cacna1f GAG GAGTAG X: 7,486,293 (GRCm39) probably null Het
Ccdc170 ACC ACCTCC 10: 4,511,026 (GRCm39) probably benign Het
Cul9 CTTC CTTCTTC 17: 46,811,774 (GRCm39) probably benign Het
Cyb5r4 AGACACACTGCCCAGG AGACACACTGCCCAGGTATGTGACCGACACACTGCCCAGG 9: 86,922,484 (GRCm39) probably benign Het
Dmkn GTGGA GTGGACGTGGTGGAAGTGGTGGAAGTGTTGGA 7: 30,466,619 (GRCm39) probably benign Het
Dnah8 CCCTCCCG C 17: 30,854,450 (GRCm39) probably null Het
Fam171b AGCAGC AGCAGCTGCAGC 2: 83,643,220 (GRCm39) probably benign Het
Flywch1 TCACTCACCCACTCCTGGTGT TCACTCACCCACTCCTGGTGTGGGGAGGCTACGCACTCACCCACTCCTGGTGT 17: 23,981,132 (GRCm39) probably null Het
Ifi208 AGATG AG 1: 173,505,262 (GRCm39) probably benign Het
Irag2 TG TGAGCACATGG 6: 145,119,516 (GRCm39) probably benign Het
Kri1 CTCCTCCT C 9: 21,192,364 (GRCm39) probably null Het
Krtap28-10 CACAGC CACAGCCACAGCCACAACAGC 1: 83,020,006 (GRCm39) probably benign Het
Loricrin ATAGCCG A 3: 91,989,183 (GRCm39) probably benign Het
Med12l AGC AGCGGC 3: 59,183,388 (GRCm39) probably benign Het
Med12l CAG CAGAAG 3: 59,183,402 (GRCm39) probably benign Het
Mn1 CAG CAGAAG 5: 111,567,571 (GRCm39) probably benign Het
Mnd1 G A 3: 84,041,366 (GRCm39) L79F possibly damaging Het
Nolc1 AGCAGCAGC AGCAGCAGCGGCAGCAGC 19: 46,069,802 (GRCm39) probably benign Het
Pdcd11 GGAGGAG GG 19: 47,101,888 (GRCm39) probably null Het
Rbfox2 G T 15: 77,016,973 (GRCm39) Q134K possibly damaging Het
Tcof1 AGC AGCTGC 18: 60,968,808 (GRCm39) probably benign Het
Tent4a GACA G 13: 69,681,973 (GRCm39) probably benign Het
Ttf2 TTCT TTCTTCT 3: 100,870,473 (GRCm39) probably benign Het
Ubtf CTTC CTTCTTC 11: 102,197,771 (GRCm39) probably benign Het
Vmn2r58 CAAAATGATGTAGCACTT C 7: 41,486,383 (GRCm39) probably null Het
Zfhx3 CAGCAGCA CAGCAGCAAGAGCAGCA 8: 109,682,730 (GRCm39) probably benign Het
Zfp384 CCCAGGC CCCAGGCCCAGGACCAGGC 6: 125,013,453 (GRCm39) probably benign 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
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
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'- AATCAGTTGGCTGGCTGTCATC -3'
(R):5'- TCAGGGATCCATCACCTGTTGG -3'

Sequencing Primer
(F):5'- CTGGCTGTCATCTTTGGCTTAG -3'
(R):5'- CCATCACCTGTTGGAAAGTCTGAG -3'
Posted On 2019-12-04