Incidental Mutation 'IGL03139:Saxo1'
ID410626
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Saxo1
Ensembl Gene ENSMUSG00000028492
Gene Namestabilizer of axonemal microtubules 1
Synonyms4930500O09Rik, Fam154a
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL03139
Quality Score
Status
Chromosome4
Chromosomal Location86444641-86558328 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 86487762 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 67 (M67V)
Ref Sequence ENSEMBL: ENSMUSP00000030216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030216]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030216
AA Change: M67V

PolyPhen 2 Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030216
Gene: ENSMUSG00000028492
AA Change: M67V

DomainStartEndE-ValueType
Pfam:STOP 5 129 2.4e-13 PFAM
Pfam:STOP 88 265 1.6e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139694
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151481
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,243,208 F97L probably benign Het
Acad10 T C 5: 121,626,082 Y928C probably benign Het
Aqp7 A G 4: 41,045,326 M18T probably benign Het
Atxn7 T C 14: 14,052,994 V144A probably damaging Het
Baiap2l2 T A 15: 79,271,553 N107I probably damaging Het
Cd180 A G 13: 102,706,416 K657E probably damaging Het
Cep192 T C 18: 67,828,476 probably null Het
Cma2 A G 14: 55,973,799 I183V probably damaging Het
Col18a1 C A 10: 77,113,343 A112S possibly damaging Het
Ctu2 A G 8: 122,478,707 D100G possibly damaging Het
Defb29 T C 2: 152,538,892 K66E probably damaging Het
Dis3l T A 9: 64,311,950 D566V probably damaging Het
Dtx1 C A 5: 120,694,890 R161L probably damaging Het
Efcab6 T A 15: 83,952,221 L436F probably benign Het
Fip1l1 A G 5: 74,571,115 I254V possibly damaging Het
Gid8 C A 2: 180,714,708 A46E probably damaging Het
Gm4951 T C 18: 60,246,149 V252A probably benign Het
Grm8 G T 6: 27,618,650 Q398K probably damaging Het
Hsd17b7 C T 1: 169,953,080 E320K probably damaging Het
Kcnt1 T C 2: 25,894,468 probably benign Het
Lrrc8a T C 2: 30,255,671 S166P probably damaging Het
Map2k6 A T 11: 110,496,473 probably benign Het
Mmab A G 5: 114,433,344 L157P probably damaging Het
Mmrn1 A T 6: 60,976,340 E535V probably damaging Het
Mup4 T C 4: 59,958,482 probably benign Het
Nup210 A G 6: 91,020,239 S820P probably benign Het
Olfr547 A G 7: 102,535,310 K188E possibly damaging Het
Pik3cg T C 12: 32,192,223 I963V probably damaging Het
Plcg1 T C 2: 160,748,129 probably null Het
Plscr1 T C 9: 92,266,385 probably benign Het
Prss36 C T 7: 127,933,611 G202E probably damaging Het
Psen2 A T 1: 180,240,785 V101E probably damaging Het
Sfrp4 G A 13: 19,623,558 M42I probably damaging Het
Strn3 C A 12: 51,652,850 probably benign Het
Tgfb1i1 C A 7: 128,249,304 P197Q possibly damaging Het
Thsd4 A G 9: 59,997,173 V580A probably benign Het
Tjp1 C A 7: 65,340,434 probably benign Het
Tprn C T 2: 25,264,054 A456V probably benign Het
Ttc34 T C 4: 154,861,270 Y763H probably benign Het
Ttn T C 2: 76,771,163 T18686A probably benign Het
Uggt2 T A 14: 119,095,310 T71S probably benign Het
Vmn2r120 T A 17: 57,524,742 Y349F probably benign Het
Zbtb41 A G 1: 139,423,838 T230A probably benign Het
Other mutations in Saxo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Saxo1 APN 4 86445572 missense probably damaging 1.00
IGL00563:Saxo1 APN 4 86445572 missense probably damaging 1.00
IGL01816:Saxo1 APN 4 86445614 missense probably benign 0.03
IGL02941:Saxo1 APN 4 86445584 missense probably damaging 1.00
R0498:Saxo1 UTSW 4 86478896 missense possibly damaging 0.78
R0522:Saxo1 UTSW 4 86445103 missense probably damaging 1.00
R1126:Saxo1 UTSW 4 86478987 missense probably benign 0.30
R2203:Saxo1 UTSW 4 86445761 missense probably damaging 1.00
R2261:Saxo1 UTSW 4 86478975 missense probably damaging 1.00
R2262:Saxo1 UTSW 4 86478975 missense probably damaging 1.00
R4017:Saxo1 UTSW 4 86557996 missense possibly damaging 0.82
R4629:Saxo1 UTSW 4 86487827 missense probably damaging 1.00
R5199:Saxo1 UTSW 4 86487782 missense probably damaging 1.00
R5471:Saxo1 UTSW 4 86445724 missense probably damaging 1.00
R5626:Saxo1 UTSW 4 86445589 missense probably damaging 1.00
R5679:Saxo1 UTSW 4 86445035 missense possibly damaging 0.89
R5710:Saxo1 UTSW 4 86445035 missense possibly damaging 0.89
R5782:Saxo1 UTSW 4 86445807 missense probably damaging 0.96
R6900:Saxo1 UTSW 4 86445334 missense possibly damaging 0.94
R7035:Saxo1 UTSW 4 86445122 missense probably damaging 1.00
R7491:Saxo1 UTSW 4 86445407 missense probably benign 0.27
Z1176:Saxo1 UTSW 4 86445803 frame shift probably null
Posted On2016-08-02