Incidental Mutation 'IGL01760:Odf2'
ID153238
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Odf2
Ensembl Gene ENSMUSG00000026790
Gene Nameouter dense fiber of sperm tails 2
SynonymsMMTEST29, cenexin
Accession Numbers

Genbank: NM_001113213; MGI: 1098824 

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01760
Quality Score
Status
Chromosome2
Chromosomal Location29889221-29931746 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 29914460 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 347 (Q347K)
Ref Sequence ENSEMBL: ENSMUSP00000109384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028128] [ENSMUST00000046571] [ENSMUST00000113755] [ENSMUST00000113756] [ENSMUST00000113757] [ENSMUST00000113759] [ENSMUST00000113762] [ENSMUST00000113763] [ENSMUST00000113764] [ENSMUST00000113765] [ENSMUST00000113767] [ENSMUST00000184845]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028128
AA Change: Q333K

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000028128
Gene: ENSMUSG00000026790
AA Change: Q333K

DomainStartEndE-ValueType
coiled coil region 125 197 N/A INTRINSIC
internal_repeat_1 248 284 1.04e-5 PROSPERO
internal_repeat_1 447 481 1.04e-5 PROSPERO
Predicted Effect possibly damaging
Transcript: ENSMUST00000046571
AA Change: Q347K

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049272
Gene: ENSMUSG00000026790
AA Change: Q347K

DomainStartEndE-ValueType
internal_repeat_2 120 138 1.77e-5 PROSPERO
coiled coil region 139 211 N/A INTRINSIC
internal_repeat_2 218 236 1.77e-5 PROSPERO
internal_repeat_1 262 298 8.12e-7 PROSPERO
internal_repeat_1 461 495 8.12e-7 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000113755
AA Change: Q347K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109384
Gene: ENSMUSG00000026790
AA Change: Q347K

DomainStartEndE-ValueType
coiled coil region 139 211 N/A INTRINSIC
internal_repeat_1 262 298 2.12e-5 PROSPERO
internal_repeat_1 461 495 2.12e-5 PROSPERO
Predicted Effect possibly damaging
Transcript: ENSMUST00000113756
AA Change: Q347K

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109385
Gene: ENSMUSG00000026790
AA Change: Q347K

DomainStartEndE-ValueType
internal_repeat_2 120 138 1.77e-5 PROSPERO
coiled coil region 139 211 N/A INTRINSIC
internal_repeat_2 218 236 1.77e-5 PROSPERO
internal_repeat_1 262 298 8.12e-7 PROSPERO
internal_repeat_1 461 495 8.12e-7 PROSPERO
Predicted Effect possibly damaging
Transcript: ENSMUST00000113757
AA Change: Q328K

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109386
Gene: ENSMUSG00000026790
AA Change: Q328K

DomainStartEndE-ValueType
internal_repeat_2 101 119 9.13e-6 PROSPERO
coiled coil region 120 192 N/A INTRINSIC
internal_repeat_2 199 217 9.13e-6 PROSPERO
internal_repeat_1 243 279 3.83e-7 PROSPERO
internal_repeat_1 442 476 3.83e-7 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000113759
AA Change: Q348K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109388
Gene: ENSMUSG00000026790
AA Change: Q348K

DomainStartEndE-ValueType
internal_repeat_2 120 138 1.82e-5 PROSPERO
coiled coil region 139 211 N/A INTRINSIC
internal_repeat_2 218 236 1.82e-5 PROSPERO
internal_repeat_1 262 299 1.55e-6 PROSPERO
internal_repeat_1 462 496 1.55e-6 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000113762
AA Change: Q352K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109391
Gene: ENSMUSG00000026790
AA Change: Q352K

DomainStartEndE-ValueType
coiled coil region 144 216 N/A INTRINSIC
internal_repeat_1 267 303 1.9e-5 PROSPERO
internal_repeat_1 466 500 1.9e-5 PROSPERO
Predicted Effect possibly damaging
Transcript: ENSMUST00000113763
AA Change: Q333K

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109392
Gene: ENSMUSG00000026790
AA Change: Q333K

DomainStartEndE-ValueType
coiled coil region 125 197 N/A INTRINSIC
internal_repeat_1 248 284 1.04e-5 PROSPERO
internal_repeat_1 447 481 1.04e-5 PROSPERO
Predicted Effect possibly damaging
Transcript: ENSMUST00000113764
AA Change: Q333K

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109393
Gene: ENSMUSG00000026790
AA Change: Q333K

DomainStartEndE-ValueType
coiled coil region 125 197 N/A INTRINSIC
internal_repeat_1 248 284 1.04e-5 PROSPERO
internal_repeat_1 447 481 1.04e-5 PROSPERO
Predicted Effect possibly damaging
Transcript: ENSMUST00000113765
AA Change: Q352K

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109394
Gene: ENSMUSG00000026790
AA Change: Q352K

DomainStartEndE-ValueType
internal_repeat_2 125 143 1.66e-5 PROSPERO
coiled coil region 144 216 N/A INTRINSIC
internal_repeat_2 223 241 1.66e-5 PROSPERO
internal_repeat_1 267 303 7.56e-7 PROSPERO
internal_repeat_1 466 500 7.56e-7 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000113767
AA Change: Q396K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109396
Gene: ENSMUSG00000026790
AA Change: Q396K

DomainStartEndE-ValueType
low complexity region 9 23 N/A INTRINSIC
coiled coil region 188 260 N/A INTRINSIC
internal_repeat_1 311 347 3e-5 PROSPERO
internal_repeat_1 510 544 3e-5 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000184845
AA Change: Q347K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139390
Gene: ENSMUSG00000026790
AA Change: Q347K

DomainStartEndE-ValueType
coiled coil region 139 211 N/A INTRINSIC
internal_repeat_1 262 298 3.95e-5 PROSPERO
internal_repeat_1 461 495 3.95e-5 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131165
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. This gene encodes one of the major outer dense fiber proteins. Alternative splicing results in multiple transcript variants. The longer transcripts, also known as 'Cenexins', encode proteins with a C-terminal extension that are differentially targeted to somatic centrioles and thought to be crucial for the formation of microtubule organizing centers. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality before implantation and transmission ratio distortion while all heterozygous males display normal development and fertility. Males heterozygous for other alleles are either infertile orshow reduced fertility. [provided by MGI curators]
Allele List at MGI

All alleles(18) : Gene trapped(18)

Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T A 8: 83,731,957 T147S probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Chst3 A T 10: 60,186,470 V185D probably damaging Het
Col14a1 A C 15: 55,423,459 D892A unknown Het
Dopey1 A G 9: 86,519,923 T1059A probably benign Het
Erlec1 A C 11: 30,934,731 S441A probably benign Het
Frmd4b G T 6: 97,308,702 T289N probably damaging Het
Gm2016 A T 12: 87,877,021 probably benign Het
Gm6133 G A 18: 78,350,175 R128Q probably benign Het
Gnai2 A G 9: 107,616,518 S155P probably damaging Het
Hspg2 T C 4: 137,512,671 S517P possibly damaging Het
Ighv9-1 C A 12: 114,094,194 E29* probably null Het
Lrp1 T C 10: 127,573,501 K1583R probably benign Het
Ltbp1 C T 17: 75,227,150 T211M probably damaging Het
Mttp A G 3: 138,111,736 S418P probably benign Het
Napa A G 7: 16,098,744 N23S possibly damaging Het
Ogdhl A G 14: 32,339,937 D504G probably damaging Het
Olfr433 T C 1: 174,042,625 L225P probably damaging Het
Pdxdc1 A T 16: 13,859,152 N273K probably damaging Het
Rslcan18 T C 13: 67,113,951 I11V probably benign Het
Spidr G T 16: 15,912,560 R664S possibly damaging Het
Tead3 T C 17: 28,333,081 N385S probably benign Het
Trim13 T A 14: 61,605,723 N396K probably benign Het
Trp53bp2 C T 1: 182,448,428 A160V possibly damaging Het
Vmn2r69 A G 7: 85,406,864 S689P possibly damaging Het
Vmn2r79 A T 7: 87,002,158 Q255L probably benign Het
Wsb1 T C 11: 79,242,041 Y276C probably damaging Het
Zfp236 G T 18: 82,621,422 N1233K probably damaging Het
Other mutations in Odf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01472:Odf2 APN 2 29893059 missense probably damaging 1.00
IGL01511:Odf2 APN 2 29914309 splice site probably benign
IGL02487:Odf2 APN 2 29920839 missense possibly damaging 0.80
IGL03047:Odf2 APN 2 29920895 splice site probably benign
IGL03057:Odf2 APN 2 29923645 intron probably benign
IGL03064:Odf2 APN 2 29901079 missense probably benign 0.28
3-1:Odf2 UTSW 2 29904075 nonsense probably null
IGL02837:Odf2 UTSW 2 29926713 missense probably damaging 0.99
R4025:Odf2 UTSW 2 29926815 missense probably damaging 1.00
R4227:Odf2 UTSW 2 29901284 intron probably benign
R4357:Odf2 UTSW 2 29892244 missense probably benign 0.00
R4417:Odf2 UTSW 2 29915321 splice site probably benign
R4512:Odf2 UTSW 2 29926097 splice site probably null
R4705:Odf2 UTSW 2 29904034 missense probably damaging 1.00
R4815:Odf2 UTSW 2 29902240 missense possibly damaging 0.87
R5325:Odf2 UTSW 2 29912571 missense probably benign 0.19
R5614:Odf2 UTSW 2 29920867 missense probably damaging 0.99
R6998:Odf2 UTSW 2 29912617 missense probably benign 0.43
R7740:Odf2 UTSW 2 29930624 missense probably damaging 1.00
R7963:Odf2 UTSW 2 29926100 missense probably benign 0.44
Posted On2014-02-04