Incidental Mutation 'IGL00562:Saxo1'
ID 277757
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Saxo1
Ensembl Gene ENSMUSG00000028492
Gene Name stabilizer of axonemal microtubules 1
Synonyms Fam154a, 4930500O09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL00562
Quality Score
Status
Chromosome 4
Chromosomal Location 86362878-86476565 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86363809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 225 (E225K)
Ref Sequence ENSEMBL: ENSMUSP00000030216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030216]
AlphaFold B1AXP3
Predicted Effect probably damaging
Transcript: ENSMUST00000030216
AA Change: E225K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000030216
Gene: ENSMUSG00000028492
AA Change: E225K

DomainStartEndE-ValueType
Pfam:STOP 5 129 2.4e-13 PFAM
Pfam:STOP 88 265 1.6e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151481
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T C 5: 25,202,619 (GRCm39) probably benign Het
AU016765 C A 17: 64,826,877 (GRCm39) noncoding transcript Het
Chaf1b T C 16: 93,697,079 (GRCm39) probably benign Het
Clstn2 A G 9: 97,464,505 (GRCm39) probably benign Het
Crip1 T A 12: 113,117,232 (GRCm39) probably null Het
Cubn A G 2: 13,299,041 (GRCm39) S3211P probably benign Het
Dlx6 C T 6: 6,865,143 (GRCm39) R172W probably damaging Het
Fktn A T 4: 53,747,007 (GRCm39) probably null Het
Focad T A 4: 88,267,046 (GRCm39) M1019K unknown Het
Fuca2 A T 10: 13,381,651 (GRCm39) D188V probably damaging Het
Kcna3 A G 3: 106,944,046 (GRCm39) D103G probably damaging Het
Mrpl19 A G 6: 81,942,853 (GRCm39) V19A probably benign Het
Ndufb3 T A 1: 58,634,958 (GRCm39) H103Q possibly damaging Het
Pkd1l3 T C 8: 110,382,779 (GRCm39) V1675A possibly damaging Het
Ptger4 A T 15: 5,272,614 (GRCm39) S2T probably benign Het
Sftpb G T 6: 72,286,845 (GRCm39) A228S probably benign Het
Slc22a29 T A 19: 8,138,993 (GRCm39) T490S probably benign Het
Slc29a1 T C 17: 45,900,918 (GRCm39) N50S probably damaging Het
Smc6 T A 12: 11,351,532 (GRCm39) S854T probably benign Het
Smim23 T C 11: 32,771,893 (GRCm39) T58A probably benign Het
Tas2r134 T C 2: 51,518,100 (GRCm39) I193T possibly damaging Het
Thsd7a G T 6: 12,379,658 (GRCm39) probably null Het
Trav13n-4 T G 14: 53,601,423 (GRCm39) V64G possibly damaging Het
Trmt10a G A 3: 137,853,177 (GRCm39) E13K probably damaging Het
Txndc11 T C 16: 10,922,496 (GRCm39) S239G probably damaging Het
Vmn2r96 T A 17: 18,804,077 (GRCm39) N442K probably benign Het
Vps13a C T 19: 16,712,078 (GRCm39) probably null Het
Other mutations in Saxo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00563:Saxo1 APN 4 86,363,809 (GRCm39) missense probably damaging 1.00
IGL01816:Saxo1 APN 4 86,363,851 (GRCm39) missense probably benign 0.03
IGL02941:Saxo1 APN 4 86,363,821 (GRCm39) missense probably damaging 1.00
IGL03139:Saxo1 APN 4 86,405,999 (GRCm39) missense possibly damaging 0.49
R0498:Saxo1 UTSW 4 86,397,133 (GRCm39) missense possibly damaging 0.78
R0522:Saxo1 UTSW 4 86,363,340 (GRCm39) missense probably damaging 1.00
R1126:Saxo1 UTSW 4 86,397,224 (GRCm39) missense probably benign 0.30
R2203:Saxo1 UTSW 4 86,363,998 (GRCm39) missense probably damaging 1.00
R2261:Saxo1 UTSW 4 86,397,212 (GRCm39) missense probably damaging 1.00
R2262:Saxo1 UTSW 4 86,397,212 (GRCm39) missense probably damaging 1.00
R4017:Saxo1 UTSW 4 86,476,233 (GRCm39) missense possibly damaging 0.82
R4629:Saxo1 UTSW 4 86,406,064 (GRCm39) missense probably damaging 1.00
R5199:Saxo1 UTSW 4 86,406,019 (GRCm39) missense probably damaging 1.00
R5471:Saxo1 UTSW 4 86,363,961 (GRCm39) missense probably damaging 1.00
R5626:Saxo1 UTSW 4 86,363,826 (GRCm39) missense probably damaging 1.00
R5679:Saxo1 UTSW 4 86,363,272 (GRCm39) missense possibly damaging 0.89
R5710:Saxo1 UTSW 4 86,363,272 (GRCm39) missense possibly damaging 0.89
R5782:Saxo1 UTSW 4 86,364,044 (GRCm39) missense probably damaging 0.96
R6900:Saxo1 UTSW 4 86,363,571 (GRCm39) missense possibly damaging 0.94
R7035:Saxo1 UTSW 4 86,363,359 (GRCm39) missense probably damaging 1.00
R7491:Saxo1 UTSW 4 86,363,644 (GRCm39) missense probably benign 0.27
R9524:Saxo1 UTSW 4 86,397,132 (GRCm39) missense probably benign 0.05
R9525:Saxo1 UTSW 4 86,363,186 (GRCm39) nonsense probably null
Z1176:Saxo1 UTSW 4 86,364,040 (GRCm39) frame shift probably null
Posted On 2015-04-16