Incidental Mutation 'R1670:Dnaaf9'
ID 187523
Institutional Source Beutler Lab
Gene Symbol Dnaaf9
Ensembl Gene ENSMUSG00000027309
Gene Name dynein axonemal assembly factor 9
Synonyms 4930402H24Rik
MMRRC Submission 039706-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1670 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 130548120-130682565 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 130554299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 187 (P187S)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044766] [ENSMUST00000119422]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000044766
AA Change: P1048S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309
AA Change: P1048S

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 damaging
Transcript: ENSMUST00000119422
AA Change: P917S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309
AA Change: P917S

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 damaging
Transcript: ENSMUST00000138758
AA Change: P187S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000139684
Meta Mutation Damage Score 0.3366 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.3%
Validation Efficiency 97% (74/76)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,540,448 (GRCm39) V1497A possibly damaging Het
Adam15 T C 3: 89,255,817 (GRCm39) probably benign Het
Angel2 T A 1: 190,674,360 (GRCm39) S371T probably benign Het
Atr T A 9: 95,743,509 (GRCm39) N49K probably benign Het
Bace2 G A 16: 97,213,335 (GRCm39) M228I probably damaging Het
Bdp1 A C 13: 100,163,941 (GRCm39) probably null Het
Calr A T 8: 85,570,748 (GRCm39) D302E probably benign Het
Camta1 T C 4: 151,164,228 (GRCm39) D340G probably benign Het
Car11 C T 7: 45,352,949 (GRCm39) T236I possibly damaging Het
Cfap69 A T 5: 5,636,409 (GRCm39) S275T probably benign Het
Cib2 G A 9: 54,455,653 (GRCm39) R104W probably damaging Het
CN725425 T C 15: 91,130,018 (GRCm39) S294P possibly damaging Het
Coro7 G A 16: 4,446,097 (GRCm39) S876F possibly damaging Het
Cspg4 G A 9: 56,804,687 (GRCm39) V1833M probably damaging Het
Dennd6b C A 15: 89,069,540 (GRCm39) probably benign Het
Dhx30 A T 9: 109,914,341 (GRCm39) Y979N possibly damaging Het
Dnah8 A T 17: 30,944,098 (GRCm39) I1772F probably damaging Het
Dync2h1 A T 9: 6,993,942 (GRCm39) I3976N possibly damaging Het
Ebi3 T C 17: 56,261,479 (GRCm39) I125T probably damaging Het
Elfn2 C T 15: 78,556,568 (GRCm39) A660T probably benign Het
F12 C T 13: 55,569,346 (GRCm39) C209Y probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fgfr2 T A 7: 129,782,187 (GRCm39) D413V probably damaging Het
Gdf10 T A 14: 33,654,000 (GRCm39) I169N possibly damaging Het
Gdnf T C 15: 7,845,130 (GRCm39) V41A probably benign Het
Gm9857 A T 3: 108,847,478 (GRCm39) probably benign Het
Gpatch11 A G 17: 79,146,529 (GRCm39) E58G possibly damaging Het
Gpr55 A G 1: 85,869,137 (GRCm39) V148A possibly damaging Het
Gucy1b1 A G 3: 81,952,767 (GRCm39) I222T probably benign Het
Hnf4a T C 2: 163,404,496 (GRCm39) S227P probably damaging Het
Hsfy2 A G 1: 56,675,548 (GRCm39) S330P possibly damaging Het
Hycc1 T A 5: 24,204,989 (GRCm39) M1L possibly damaging Het
Ift122 T C 6: 115,900,844 (GRCm39) V1054A probably benign Het
Il27 T A 7: 126,188,647 (GRCm39) E175D probably benign Het
Lactb2 A T 1: 13,730,641 (GRCm39) S12T probably damaging Het
Lrfn2 T C 17: 49,403,605 (GRCm39) V576A probably benign Het
Mansc4 C G 6: 146,976,689 (GRCm39) R309T possibly damaging Het
Med12l AACAGCA AACAGCAACAGCA 3: 59,183,379 (GRCm39) probably benign Het
Mrpl16 C T 19: 11,751,959 (GRCm39) R240* probably null Het
Muc17 A G 5: 137,172,843 (GRCm39) V70A probably benign Het
Ndnf A G 6: 65,680,054 (GRCm39) D111G probably benign Het
Nek4 T C 14: 30,704,384 (GRCm39) F688S probably damaging Het
Nkx2-6 T A 14: 69,412,126 (GRCm39) M98K probably benign Het
Nup188 T C 2: 30,230,667 (GRCm39) S1402P probably benign Het
Or10j2 T A 1: 173,098,467 (GRCm39) S242T probably damaging Het
Or2t48 A T 11: 58,420,237 (GRCm39) S192T probably damaging Het
Or4f14b C T 2: 111,775,264 (GRCm39) C179Y probably damaging Het
Or52i2 A G 7: 102,319,609 (GRCm39) T161A possibly damaging Het
Or5ac23 A T 16: 59,149,607 (GRCm39) N88K probably benign Het
Or5ac24 T C 16: 59,165,790 (GRCm39) I91M possibly damaging Het
Or5m9b T A 2: 85,905,594 (GRCm39) V170D probably benign Het
Parp10 A T 15: 76,126,270 (GRCm39) V306E probably benign Het
Pcnx3 A G 19: 5,723,343 (GRCm39) L1284P probably damaging Het
Pld1 A T 3: 28,103,389 (GRCm39) I365F probably benign Het
Pnisr A G 4: 21,865,893 (GRCm39) D294G probably damaging Het
Pogz C T 3: 94,786,160 (GRCm39) T863I probably benign Het
Ptprn2 A C 12: 116,685,792 (GRCm39) T84P possibly damaging Het
Rln1 C T 19: 29,309,468 (GRCm39) E104K possibly damaging Het
Rnf38 A G 4: 44,138,681 (GRCm39) S271P probably damaging Het
Rngtt A G 4: 33,368,660 (GRCm39) T398A probably benign Het
Rprd2 G T 3: 95,672,115 (GRCm39) T1096K probably damaging Het
Sema3e C T 5: 14,212,199 (GRCm39) probably benign Het
Sema5a T A 15: 32,548,945 (GRCm39) C140S probably damaging Het
Shpk A C 11: 73,113,757 (GRCm39) D390A probably benign Het
Slc22a20 C T 19: 6,022,876 (GRCm39) probably benign Het
Steap2 A G 5: 5,727,393 (GRCm39) V314A possibly damaging Het
Stxbp5l A G 16: 37,111,289 (GRCm39) probably null Het
Tgm3 G T 2: 129,883,688 (GRCm39) E449* probably null Het
Tmem68 A C 4: 3,560,627 (GRCm39) L186V probably damaging Het
Ttc41 T A 10: 86,612,116 (GRCm39) W1130R possibly damaging Het
Ttpal T C 2: 163,457,286 (GRCm39) F253L possibly damaging Het
Vmn2r99 G T 17: 19,582,514 (GRCm39) V40F probably benign Het
Xkr9 G A 1: 13,771,167 (GRCm39) V228M probably damaging Het
Zc3h7b C T 15: 81,661,268 (GRCm39) A369V 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
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'- TGGTCATACTCAGGCTCAGCAGTG -3'
(R):5'- TAGGGAATGGTCCAGCTTCTCCTC -3'

Sequencing Primer
(F):5'- ACACAAGGTAGCATTCTGGC -3'
(R):5'- CTAGGTAACAGTGTGTCTGACCAC -3'
Posted On 2014-05-09