Incidental Mutation 'FR4342:Dnaaf9'
ID 511206
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 # FR4342 ()
Quality Score 156.468
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) TCC to TCCCCC at 130612662 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148924
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.4%
  • 10x: 97.8%
  • 20x: 93.8%
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: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik TT TTATGT 8: 125,566,572 (GRCm39) probably null Homo
4930433I11Rik AACC A 7: 40,642,479 (GRCm39) probably benign Het
7530416G11Rik T A 15: 85,378,508 (GRCm39) E45V unknown Homo
Ankrd35 TCCCC TCCC 3: 96,590,831 (GRCm39) probably null Het
Anxa2 CCC CCCACC 9: 69,387,487 (GRCm39) probably benign Het
Anxa2 C CCCA 9: 69,387,492 (GRCm39) probably benign Het
Apc CAATAAAGC CAATAAAGCAAATAAAGC 18: 34,415,052 (GRCm39) probably benign Homo
Arrb2 C T 11: 70,329,497 (GRCm39) T269M probably damaging Homo
Bcas3 G A 11: 85,400,323 (GRCm39) V431I probably benign Homo
Begain CCCCGCC CCCCGCCCCCGCC 12: 108,999,344 (GRCm39) probably benign Homo
Catsper2 TCA TCAACA 2: 121,228,274 (GRCm39) probably benign Het
Ccdc121 GAGAAG GAG 5: 31,644,717 (GRCm39) probably benign Homo
Cd164 G T 10: 41,397,922 (GRCm39) A59S probably benign Homo
Cd22 C T 7: 30,577,507 (GRCm39) R2H possibly damaging Homo
Cimip2b CAGAG CAG 4: 43,427,384 (GRCm39) probably null Homo
Cluh GAGCCT GAGCCTCAGCCT 11: 74,560,350 (GRCm39) probably benign Het
Cluh GCCTGA GCCTGAACCTGA 11: 74,560,352 (GRCm39) probably benign Het
Cntnap1 AGCCCC AGCCCCCGCCCC 11: 101,080,401 (GRCm39) probably benign Het
Col2a1 C A 15: 97,886,862 (GRCm39) probably null Het
Col6a5 A T 9: 105,811,373 (GRCm39) N715K unknown Homo
Cpeb4 T TGA 11: 31,877,638 (GRCm39) probably benign Homo
Dbr1 AGGAGG AGGAGGGGGAGG 9: 99,465,733 (GRCm39) probably benign Het
Defa29 C G 8: 21,816,160 (GRCm39) R69P probably benign Het
Dhx8 CG CGAGAACGG 11: 101,629,032 (GRCm39) probably null Het
Dnah12 G T 14: 26,571,342 (GRCm39) G2817V probably damaging Homo
Dthd1 C CTTA 5: 63,000,369 (GRCm39) probably benign Homo
E4f1 GC GCCCC 17: 24,674,171 (GRCm39) probably benign Het
F830016B08Rik A ACAG 18: 60,433,013 (GRCm39) probably benign Homo
Fbrsl1 GTGTGTGTGCTGGTGCGTGTGCTGGTG GTGTGTGTGCTGGTGTGTGTGCTGGTGCGTGTGCTGGTG 5: 110,525,991 (GRCm39) probably benign Het
Fbxo22 A C 9: 55,128,354 (GRCm39) probably null Het
Flg G A 3: 93,197,820 (GRCm39) probably benign Het
Fmn1 TCC TCCTCCACC 2: 113,356,128 (GRCm39) probably benign Homo
Frmpd2 G T 14: 33,232,978 (GRCm39) L399F probably damaging Homo
Gbp2b A G 3: 142,309,413 (GRCm39) I175V probably benign Het
Gjc2 T TCCCG 11: 59,073,569 (GRCm39) probably benign Homo
Gm14496 A C 2: 181,637,699 (GRCm39) K258Q probably benign Het
Gm4340 CAGAAG CAGAAGAAG 10: 104,031,960 (GRCm39) probably benign Het
Gm4340 CAGAAG CAGAAGAAG 10: 104,031,927 (GRCm39) probably benign Het
Gpatch11 AGAGGA AGAGGATGAGGA 17: 79,149,607 (GRCm39) probably benign Het
H1f6 TGTGG TG 13: 23,879,896 (GRCm39) probably benign Homo
H2-Q4 G A 17: 35,599,381 (GRCm39) D155N probably damaging Homo
Hoxa3 G GCTT 6: 52,147,110 (GRCm39) probably benign Homo
Ifi208 ATGGTG ATG 1: 173,505,264 (GRCm39) probably benign Homo
Ighv5-9 C T 12: 113,625,497 (GRCm39) S82N probably benign Homo
Klra10 G A 6: 130,249,710 (GRCm39) R192C probably benign Het
Kmt2b TCCTCC TCCTCCCCCTCC 7: 30,285,800 (GRCm39) probably benign Het
Krt10 CGCC CGCCGCC 11: 99,277,025 (GRCm39) probably benign Het
Krt10 ACC ACCCCC 11: 99,277,029 (GRCm39) probably benign Homo
Lce1m CGCTGCTGCTGCCACAGCA C 3: 92,925,554 (GRCm39) probably benign Het
Mak16 T G,A 8: 31,651,777 (GRCm39) E203D probably benign Homo
Med12l AGC AGCGGC 3: 59,183,409 (GRCm39) probably benign Het
Med12l AGCGGC AGCGGCGGC 3: 59,183,415 (GRCm39) probably benign Het
Mn1 AGC AGCGGC 5: 111,567,572 (GRCm39) probably benign Het
Nacad TC TCAGGGGC 11: 6,549,762 (GRCm39) probably benign Het
Naip1 C T 13: 100,561,979 (GRCm39) R1062K probably benign Het
Ndel1 G A 11: 68,724,235 (GRCm39) P246L probably damaging Het
Nelfe AC ACAAAGAGCGGGATCGAGACAGAGCC 17: 35,073,065 (GRCm39) probably benign Het
Or51q1 TCC TCCC 7: 103,629,110 (GRCm39) probably null Het
Or5p70 A G 7: 107,995,100 (GRCm39) T258A probably benign Het
Or5p70 G A 7: 107,995,105 (GRCm39) M259I probably benign Het
P4ha2 GTGTTGCTG GTG 11: 54,001,077 (GRCm39) probably benign Homo
Pde3b GGTGGTGGTG GGTGGTGGTGGTG 7: 114,134,010 (GRCm39) probably benign Homo
Pdik1l ACCACC ACCACCCCCACC 4: 134,006,820 (GRCm39) probably benign Homo
Phaf1 G A 8: 105,967,730 (GRCm39) G207E probably benign Homo
Plekhs1 AGAC AGACCTCCCCCGCGAC 19: 56,468,293 (GRCm39) probably benign Homo
Plekhs1 TCCAGAC TCCAGACCTCCCCCCAGAC 19: 56,468,290 (GRCm39) probably benign Homo
Pramel16 AAGAG AAG 4: 143,676,327 (GRCm39) probably null Het
Pramel16 G A 4: 143,676,312 (GRCm39) T264M probably damaging Het
Pramel27 AA AATA 4: 143,578,213 (GRCm39) probably null Homo
Prkn G A 17: 12,073,650 (GRCm39) V323M probably damaging Homo
Ptms TCT TCTCCT 6: 124,891,417 (GRCm39) probably benign Homo
Raet1d A G 10: 22,247,458 (GRCm39) Q178R probably benign Het
Rtbdn AGCG AGCGCCGGCG 8: 85,682,797 (GRCm39) probably benign Het
Rtbdn GC GCAGCGCC 8: 85,682,807 (GRCm39) probably benign Het
Semp2l2a G C 8: 13,887,613 (GRCm39) H159Q probably benign Het
Serac1 T A 17: 6,121,083 (GRCm39) K70N probably damaging Homo
Sfswap CCCACTC CCCACTCAGACCACTC 5: 129,646,821 (GRCm39) probably benign Homo
Sp110 ACT ACTGCT 1: 85,515,209 (GRCm39) probably benign Het
Spaca1 GCTCTC GCTCTCACTCTC 4: 34,049,838 (GRCm39) probably benign Het
Spag17 GGA GGATGA 3: 99,963,565 (GRCm39) probably benign Het
Spag17 GGAGGAGGA GGAGGAGGAGGA 3: 99,963,568 (GRCm39) probably benign Homo
Speer4a1 C A 5: 26,241,746 (GRCm39) E127* probably null Het
Sry GGT GGTTGT Y: 2,662,836 (GRCm39) probably benign Het
Sry TGG TGGGGG Y: 2,662,835 (GRCm39) probably benign Het
Sry CTGCTGGTG CTG Y: 2,663,146 (GRCm39) probably benign Het
Sry GGT GGTAGT Y: 2,662,839 (GRCm39) probably benign Homo
Tdpoz3 C T 3: 93,733,819 (GRCm39) P165S probably benign Het
Tdpoz4 GAA GA 3: 93,704,187 (GRCm39) probably null Het
Tert AGGCC AGGCCAAGGGGGCC 13: 73,796,419 (GRCm39) probably benign Homo
Tmbim7 C T 5: 3,720,064 (GRCm39) R100C possibly damaging Homo
Tnfrsf9 CT CTGAT 4: 151,018,851 (GRCm39) probably benign Homo
Tob1 AGC AGCCGC 11: 94,105,298 (GRCm39) probably benign Het
Trav6n-5 GCTT G 14: 53,342,369 (GRCm39) probably benign Homo
Triobp G GTCA 15: 78,877,592 (GRCm39) probably benign Homo
Tsen2 AGG AGGTGG 6: 115,537,033 (GRCm39) probably benign Het
Ubtf TCC TCCGCC 11: 102,197,782 (GRCm39) probably benign Het
Ubtf TC TCCCC 11: 102,197,785 (GRCm39) probably benign Het
Vmn2r125 G A 4: 156,703,260 (GRCm39) V213I probably benign Het
Vmn2r87 C T 10: 130,314,583 (GRCm39) M334I probably benign Homo
Zdhhc16 G A 19: 41,930,588 (GRCm39) probably benign Het
Zfp28 G A 7: 6,397,862 (GRCm39) G766R probably damaging Het
Zfp335 GTCGTC GTCGTCGTC 2: 164,749,385 (GRCm39) probably benign Het
Zfp335 C CCCC 2: 164,749,397 (GRCm39) probably benign Het
Zfp428 G A 7: 24,214,506 (GRCm39) D41N probably damaging Homo
Zfp429 A T 13: 67,544,769 (GRCm39) F48Y probably benign Het
Zfp598 CCACC CCACCCACACC 17: 24,899,754 (GRCm39) probably benign Het
Zfp93 G A 7: 23,975,011 (GRCm39) R332H possibly damaging Het
Zpld2 G GCTC 4: 133,929,942 (GRCm39) probably benign Homo
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
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
Predicted Primers PCR Primer
(F):5'- TAATCAGTTGGCTGGCTGTC -3'
(R):5'- TCAGGGATCCATCACCTGTTG -3'

Sequencing Primer
(F):5'- CTGGCTGTCATCTTTGGCTTAG -3'
(R):5'- CCATCACCTGTTGGAAAGTCTGAG -3'
Posted On 2018-04-05