Incidental Mutation 'R5471:Saxo1'
ID 433799
Institutional Source Beutler Lab
Gene Symbol Saxo1
Ensembl Gene ENSMUSG00000028492
Gene Name stabilizer of axonemal microtubules 1
Synonyms Fam154a, 4930500O09Rik
MMRRC Submission 043032-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R5471 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 86362878-86476565 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86363961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 174 (T174I)
Ref Sequence ENSEMBL: ENSMUSP00000030216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030216]
AlphaFold B1AXP3
Predicted Effect probably damaging
Transcript: ENSMUST00000030216
AA Change: T174I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030216
Gene: ENSMUSG00000028492
AA Change: T174I

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
Meta Mutation Damage Score 0.8198 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.5%
Validation Efficiency 96% (67/70)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm1 C T 7: 119,259,829 (GRCm39) H493Y probably damaging Het
Alox12e T C 11: 70,210,850 (GRCm39) I290V probably benign Het
Ankfy1 T A 11: 72,619,617 (GRCm39) N163K probably benign Het
Baiap2l1 T G 5: 144,218,951 (GRCm39) N219T probably benign Het
Cd72 T C 4: 43,448,345 (GRCm39) I312V probably benign Het
Cfap54 A T 10: 92,864,522 (GRCm39) M139K probably damaging Het
Clec4n T A 6: 123,209,145 (GRCm39) M70K probably benign Het
Cmklr2 A C 1: 63,223,058 (GRCm39) V59G probably damaging Het
Cwh43 T A 5: 73,565,574 (GRCm39) C46* probably null Het
Cyp1a2 A T 9: 57,586,303 (GRCm39) I405N probably damaging Het
Dlc1 G T 8: 37,051,879 (GRCm39) S617R probably benign Het
Eif2ak4 A G 2: 118,304,613 (GRCm39) N1546S probably benign Het
Elmo1 A G 13: 20,756,555 (GRCm39) I548V probably benign Het
Exoc6 A G 19: 37,588,065 (GRCm39) D566G probably benign Het
Fam20b T C 1: 156,533,299 (GRCm39) T106A probably damaging Het
Fam83h T C 15: 75,874,752 (GRCm39) T862A probably benign Het
Fgfr1op2 A T 6: 146,498,860 (GRCm39) probably null Het
Gcnt2 A G 13: 41,014,195 (GRCm39) Y122C probably damaging Het
Gm11992 A T 11: 9,018,333 (GRCm39) probably null Het
Gm5114 C A 7: 39,058,534 (GRCm39) E362* probably null Het
Gm815 A G 19: 26,865,769 (GRCm39) T96A unknown Het
Gm8674 A G 13: 50,054,849 (GRCm39) noncoding transcript Het
Gnat3 T A 5: 18,196,322 (GRCm39) I56N probably damaging Het
Igkv1-133 T C 6: 67,702,531 (GRCm39) V83A probably benign Het
Mrgprb8 T A 7: 48,038,471 (GRCm39) N47K probably damaging Het
Nav2 A G 7: 49,197,917 (GRCm39) D1182G probably damaging Het
Neto2 T C 8: 86,367,389 (GRCm39) T480A probably benign Het
Npnt T G 3: 132,620,148 (GRCm39) N115T probably benign Het
Nr1h5 T C 3: 102,856,442 (GRCm39) N279S possibly damaging Het
Ntrk2 T C 13: 59,019,574 (GRCm39) V395A probably benign Het
Or2ak6 T C 11: 58,593,151 (GRCm39) L208S probably damaging Het
Or5ac23 T G 16: 59,148,994 (GRCm39) N293H probably damaging Het
Or6c1 A G 10: 129,517,925 (GRCm39) S228P probably damaging Het
Padi2 A G 4: 140,660,519 (GRCm39) K333R possibly damaging Het
Pira1 T A 7: 3,738,514 (GRCm39) I621F probably benign Het
Ptgis C A 2: 167,066,039 (GRCm39) M130I probably benign Het
Ptpn4 A T 1: 119,693,649 (GRCm39) Y124* probably null Het
Saal1 C T 7: 46,349,072 (GRCm39) V281M probably benign Het
Slc7a12 G A 3: 14,545,935 (GRCm39) V27M probably damaging Het
Slco4c1 C A 1: 96,799,770 (GRCm39) R22L probably benign Het
Slfn9 T G 11: 82,873,613 (GRCm39) Q430P possibly damaging Het
Slit2 T A 5: 48,346,897 (GRCm39) N246K probably damaging Het
Stox2 G T 8: 47,646,548 (GRCm39) T304K probably damaging Het
Tmem87b T G 2: 128,693,240 (GRCm39) F542V possibly damaging Het
Topaz1 T G 9: 122,620,481 (GRCm39) probably null Het
Trappc12 G A 12: 28,741,499 (GRCm39) R737W probably damaging Het
Trim9 A G 12: 70,393,566 (GRCm39) I126T possibly damaging Het
Txnl1 A G 18: 63,809,997 (GRCm39) C149R probably damaging Het
Ubald1 G A 16: 4,693,705 (GRCm39) T70M probably damaging Het
Vash1 G A 12: 86,735,902 (GRCm39) V263M possibly damaging Het
Vsx1 T C 2: 150,524,986 (GRCm39) T343A probably benign Het
Zfp397 A G 18: 24,093,081 (GRCm39) N189D probably benign Het
Other mutations in Saxo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Saxo1 APN 4 86,363,809 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GGTTCTCAAAGGGGATGTCAC -3'
(R):5'- ACTTTGTTCTGTTAGGCCAGAG -3'

Sequencing Primer
(F):5'- GTCACAGGGTATATATTTCTCTGCC -3'
(R):5'- GGCCAGAGATTTTCATTAGAAACTGG -3'
Posted On 2016-10-06