Incidental Mutation 'IGL03186:Odf3l1'
ID412469
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Odf3l1
Ensembl Gene ENSMUSG00000045620
Gene Nameouter dense fiber of sperm tails 3-like 1
SynonymsLOC382075
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL03186
Quality Score
Status
Chromosome9
Chromosomal Location56848659-56864679 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 56849072 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Threonine at position 220 (N220T)
Ref Sequence ENSEMBL: ENSMUSP00000149166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055036] [ENSMUST00000215694]
Predicted Effect probably benign
Transcript: ENSMUST00000055036
AA Change: N189T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000060418
Gene: ENSMUSG00000045620
AA Change: N189T

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 235 264 5.8e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215694
AA Change: N220T

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,433,618 I4769T possibly damaging Het
Ankrd53 T C 6: 83,763,713 I106T probably benign Het
Arsi A G 18: 60,917,473 D476G probably damaging Het
Atp2c1 T C 9: 105,413,130 K760E probably benign Het
C030048H21Rik A G 2: 26,253,338 probably null Het
Cep152 A G 2: 125,563,975 S1546P probably benign Het
Clock T C 5: 76,243,082 H291R probably damaging Het
Fkbp4 T C 6: 128,434,800 T109A probably benign Het
Igkv1-117 T C 6: 68,121,799 Y111H probably damaging Het
Kif20b A T 19: 34,934,944 E250V probably benign Het
Mef2c A G 13: 83,652,868 N229S probably benign Het
Ndufa9 A G 6: 126,844,892 V36A possibly damaging Het
Neb T C 2: 52,210,659 probably benign Het
Neb G A 2: 52,169,088 H213Y probably damaging Het
Neurl1a T A 19: 47,240,477 F152Y probably damaging Het
Nlrp14 G T 7: 107,186,670 C651F probably damaging Het
Olfr1239 T A 2: 89,417,844 T190S probably damaging Het
Olfr202 A T 16: 59,283,903 V198E probably damaging Het
Olfr836 T A 9: 19,121,904 D316E probably benign Het
Pex2 C A 3: 5,561,717 A11S probably benign Het
Pitpna C A 11: 75,612,250 H137N probably benign Het
Pole T G 5: 110,299,920 probably null Het
Rft1 T A 14: 30,658,349 I35N possibly damaging Het
Serpina1e T C 12: 103,949,203 H248R probably benign Het
Sgsm1 C T 5: 113,285,021 A254T probably benign Het
St3gal3 G A 4: 117,940,054 P331S possibly damaging Het
Ttn T A 2: 76,771,762 K16773* probably null Het
Zfp687 T C 3: 95,011,094 T456A probably benign Het
Zranb1 A G 7: 132,950,203 I220M possibly damaging Het
Other mutations in Odf3l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00825:Odf3l1 APN 9 56851691 missense probably benign 0.14
IGL00990:Odf3l1 APN 9 56849057 missense probably benign 0.01
R1791:Odf3l1 UTSW 9 56851743 missense possibly damaging 0.90
R1893:Odf3l1 UTSW 9 56849214 missense probably benign 0.43
R7177:Odf3l1 UTSW 9 56849978 missense possibly damaging 0.70
R7471:Odf3l1 UTSW 9 56852499 critical splice donor site probably null
R7761:Odf3l1 UTSW 9 56852538 missense unknown
Posted On2016-08-02