Incidental Mutation 'IGL02637:Dnaaf9'
ID 301588
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 # IGL02637
Quality Score
Status
Chromosome 2
Chromosomal Location 130548120-130682565 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to A at 130656227 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 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: 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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,309,907 (GRCm39) Y435C probably damaging Het
Adgrb1 C T 15: 74,460,143 (GRCm39) probably benign Het
Ampd1 T C 3: 103,002,199 (GRCm39) probably benign Het
Camk1g G A 1: 193,030,696 (GRCm39) P338S probably benign Het
Cog3 T C 14: 75,959,636 (GRCm39) probably benign Het
Crat A G 2: 30,296,401 (GRCm39) V355A probably benign Het
Ctla2a T A 13: 61,083,899 (GRCm39) probably benign Het
Efhb A G 17: 53,756,580 (GRCm39) I357T probably benign Het
Fh1 T C 1: 175,437,332 (GRCm39) M256V probably benign Het
Gabrg3 A G 7: 56,384,775 (GRCm39) I262T probably damaging Het
Gata2 C T 6: 88,181,558 (GRCm39) probably benign Het
Gm6356 A G 14: 6,970,926 (GRCm38) V178A possibly damaging Het
Hacl1 T C 14: 31,362,458 (GRCm39) E63G probably damaging Het
Hid1 A T 11: 115,241,421 (GRCm39) I623N probably damaging Het
Hivep2 A G 10: 14,006,452 (GRCm39) K1017E possibly damaging Het
Ifi208 C T 1: 173,506,508 (GRCm39) T97I probably benign Het
Ighg1 T C 12: 113,293,132 (GRCm39) H186R unknown Het
Igkv8-26 T C 6: 70,170,642 (GRCm39) S78P probably damaging Het
Itih3 T C 14: 30,637,617 (GRCm39) N514S probably benign Het
Kcnj16 A T 11: 110,916,439 (GRCm39) D367V probably benign Het
Klhl23 A T 2: 69,659,258 (GRCm39) R428* probably null Het
Lgmn T C 12: 102,366,485 (GRCm39) E216G probably damaging Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Lrp5 C T 19: 3,680,269 (GRCm39) G405D probably benign Het
Lrrc74a C T 12: 86,788,521 (GRCm39) R53* probably null Het
Lsm12 G A 11: 102,054,948 (GRCm39) R123C probably benign Het
Marchf5 T A 19: 37,198,033 (GRCm39) probably benign Het
Mark3 C A 12: 111,559,090 (GRCm39) A44D probably damaging Het
Mndal T A 1: 173,685,003 (GRCm39) N522I possibly damaging Het
Nbeal2 G T 9: 110,455,045 (GRCm39) R2611S possibly damaging Het
Nlrp4d T C 7: 10,116,482 (GRCm39) noncoding transcript Het
Npnt T A 3: 132,590,271 (GRCm39) I507F possibly damaging Het
Or51a7 G A 7: 102,622,250 (GRCm39) probably benign Het
Pde4a T A 9: 21,112,628 (GRCm39) L91Q probably damaging Het
Pdzd2 C T 15: 12,385,720 (GRCm39) V1017M probably benign Het
Pkhd1l1 A G 15: 44,427,720 (GRCm39) N3259S probably damaging Het
Plxnb2 A T 15: 89,048,260 (GRCm39) H683Q possibly damaging Het
Reck T A 4: 43,898,009 (GRCm39) S96T probably damaging Het
Rnf135 A G 11: 80,089,704 (GRCm39) K347E probably benign Het
Ro60 A G 1: 143,646,526 (GRCm39) V73A probably damaging Het
Rxfp2 A G 5: 149,979,378 (GRCm39) D246G probably damaging Het
Sdk1 C T 5: 142,080,327 (GRCm39) T1273I probably damaging Het
Slc12a8 A T 16: 33,355,330 (GRCm39) M49L probably benign Het
Slc5a11 A T 7: 122,859,728 (GRCm39) probably null Het
Surf2 A G 2: 26,809,790 (GRCm39) K247E probably damaging Het
Sys1 G A 2: 164,303,312 (GRCm39) V9M possibly damaging Het
Tcf4 G A 18: 69,480,421 (GRCm39) D18N probably damaging Het
Tmc6 A T 11: 117,658,416 (GRCm39) V773D possibly damaging Het
Trappc13 T C 13: 104,286,570 (GRCm39) Q229R probably benign Het
Xkr5 T C 8: 18,984,099 (GRCm39) E481G probably benign Het
Xpo5 C A 17: 46,546,905 (GRCm39) D885E probably damaging 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
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 2015-04-16