Incidental Mutation 'IGL01782:Odf4'
ID153955
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Odf4
Ensembl Gene ENSMUSG00000032921
Gene Nameouter dense fiber of sperm tails 4
SynonymsOppo1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01782
Quality Score
Status
Chromosome11
Chromosomal Location68921835-68927081 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 68926633 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 76 (H76Q)
Ref Sequence ENSEMBL: ENSMUSP00000133636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038932] [ENSMUST00000125134] [ENSMUST00000130271]
Predicted Effect possibly damaging
Transcript: ENSMUST00000038932
AA Change: H77Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040050
Gene: ENSMUSG00000032921
AA Change: H77Q

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 42 222 1.1e-8 PFAM
low complexity region 272 287 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000125134
AA Change: H76Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133636
Gene: ENSMUSG00000032921
AA Change: H76Q

DomainStartEndE-ValueType
transmembrane domain 41 63 N/A INTRINSIC
transmembrane domain 125 147 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000130271
AA Change: H77Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134383
Gene: ENSMUSG00000032921
AA Change: H77Q

DomainStartEndE-ValueType
transmembrane domain 42 64 N/A INTRINSIC
transmembrane domain 126 148 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000156828
AA Change: H61Q
SMART Domains Protein: ENSMUSP00000133569
Gene: ENSMUSG00000032921
AA Change: H61Q

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
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 a protein that is localized in the outer dense fibers of the tails of mature sperm. This protein is thought to have some important role in the sperm tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab T C 9: 63,616,713 V34A probably benign Het
Acacb G T 5: 114,200,520 G764W probably damaging Het
Ankib1 A G 5: 3,727,607 C428R probably damaging Het
Card11 A G 5: 140,927,726 M1T probably null Het
Ccdc62 T A 5: 123,954,576 N541K possibly damaging Het
Cep290 C T 10: 100,545,125 Q1742* probably null Het
Cyp2c23 T C 19: 44,029,115 T25A possibly damaging Het
Dtx2 C A 5: 136,010,127 Y13* probably null Het
Dync1h1 T C 12: 110,614,940 I273T probably damaging Het
E430018J23Rik T C 7: 127,393,304 T45A probably benign Het
Etfb A G 7: 43,454,542 T134A probably damaging Het
Fig4 A C 10: 41,270,400 L182R probably benign Het
Gm10220 A T 5: 26,117,023 L217Q probably damaging Het
Gm4871 T G 5: 145,030,360 probably benign Het
Gm5346 T A 8: 43,626,735 T151S probably benign Het
Gm5464 T C 14: 66,869,388 probably benign Het
Lurap1 A G 4: 116,144,503 probably benign Het
Mmp17 T A 5: 129,602,141 V368E probably damaging Het
Mrpl22 T A 11: 58,171,844 probably null Het
Nisch G A 14: 31,176,639 probably benign Het
Olfr330 T A 11: 58,529,159 M276L probably benign Het
Olfr777 C T 10: 129,269,039 V95I probably benign Het
Orc1 T C 4: 108,606,268 S661P possibly damaging Het
Otud4 T G 8: 79,673,011 F784V possibly damaging Het
Prkch A G 12: 73,759,662 D561G probably damaging Het
Pttg1ip T C 10: 77,581,929 probably null Het
Ranbp2 A G 10: 58,478,309 K1617R probably damaging Het
Rarb T G 14: 16,434,180 S333R probably damaging Het
Rps6ka2 A G 17: 7,236,124 K99E probably benign Het
Sel1l2 A T 2: 140,243,935 W542R probably damaging Het
Sema3g G T 14: 31,227,791 R643L probably damaging Het
Sltm T A 9: 70,573,641 D258E probably damaging Het
Stx18 G A 5: 38,106,611 V80I possibly damaging Het
Taar2 A T 10: 23,941,144 N194I probably damaging Het
Ube2r2 T C 4: 41,174,129 probably null Het
Unk C A 11: 116,058,379 N645K probably benign Het
Vmn1r73 A G 7: 11,756,738 K161R probably benign Het
Vps13a T C 19: 16,754,337 D137G probably damaging Het
Xrra1 A G 7: 99,875,194 T104A possibly damaging Het
Zfp410 T A 12: 84,327,274 probably benign Het
Other mutations in Odf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:Odf4 APN 11 68921952 unclassified probably benign
BB006:Odf4 UTSW 11 68922933 missense possibly damaging 0.80
BB016:Odf4 UTSW 11 68922933 missense possibly damaging 0.80
R0030:Odf4 UTSW 11 68926941 missense probably benign 0.33
R0030:Odf4 UTSW 11 68926941 missense probably benign 0.33
R1945:Odf4 UTSW 11 68922157 missense possibly damaging 0.53
R4551:Odf4 UTSW 11 68922040 missense probably benign 0.02
R4552:Odf4 UTSW 11 68922040 missense probably benign 0.02
R4685:Odf4 UTSW 11 68922839 critical splice donor site probably null
R4707:Odf4 UTSW 11 68926688 missense probably damaging 1.00
R5163:Odf4 UTSW 11 68922846 missense probably damaging 1.00
R6657:Odf4 UTSW 11 68926812 missense probably benign 0.12
R7073:Odf4 UTSW 11 68926688 missense probably damaging 1.00
R7508:Odf4 UTSW 11 68922423 missense possibly damaging 0.71
R7778:Odf4 UTSW 11 68922072 missense probably benign 0.01
R7824:Odf4 UTSW 11 68922072 missense probably benign 0.01
R7929:Odf4 UTSW 11 68922933 missense possibly damaging 0.80
X0025:Odf4 UTSW 11 68926790 missense probably damaging 0.98
Posted On2014-02-04