Incidental Mutation 'R7186:Saxo5'
ID 559300
Institutional Source Beutler Lab
Gene Symbol Saxo5
Ensembl Gene ENSMUSG00000040340
Gene Name stabilizer of axonemal microtubules 5
Synonyms 1700019B03Rik, Tex45
MMRRC Submission 045271-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7186 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 3520862-3537181 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3529049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 208 (F208S)
Ref Sequence ENSEMBL: ENSMUSP00000043586 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047265] [ENSMUST00000159076] [ENSMUST00000161680]
AlphaFold G3XA23
Predicted Effect probably damaging
Transcript: ENSMUST00000047265
AA Change: F208S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043586
Gene: ENSMUSG00000040340
AA Change: F208S

DomainStartEndE-ValueType
Pfam:DUF4601 58 499 7.4e-238 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159076
AA Change: F208S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123746
Gene: ENSMUSG00000040340
AA Change: F208S

DomainStartEndE-ValueType
Pfam:DUF4601 58 339 1.3e-144 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161680
AA Change: F208S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124916
Gene: ENSMUSG00000040340
AA Change: F208S

DomainStartEndE-ValueType
Pfam:DUF4601 58 499 3e-231 PFAM
Meta Mutation Damage Score 0.4073 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T A 11: 48,910,100 (GRCm39) I778F possibly damaging Het
Adam39 A T 8: 41,279,349 (GRCm39) N580I probably damaging Het
Adamts20 A G 15: 94,220,689 (GRCm39) S1415P possibly damaging Het
Adcy2 A G 13: 68,816,758 (GRCm39) Y743H probably damaging Het
Aldh1a3 A G 7: 66,055,831 (GRCm39) V320A probably damaging Het
Arid1a TGCCGCCGCCGCCGCCGCCGCCG TGCCGCCGCCGCCGCCGCCG 4: 133,480,544 (GRCm39) Het
Art5 G T 7: 101,746,536 (GRCm39) R268S probably benign Het
Bfar T C 16: 13,510,371 (GRCm39) V238A probably benign Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cdc23 G A 18: 34,770,175 (GRCm39) T408I probably damaging Het
Cdh24 G C 14: 54,870,949 (GRCm39) P522A probably benign Het
Clk4 T C 11: 51,159,607 (GRCm39) V61A probably benign Het
Clrn2 T C 5: 45,611,115 (GRCm39) probably benign Het
Cyp2j8 T C 4: 96,363,787 (GRCm39) D292G probably benign Het
Deaf1 T C 7: 140,907,383 (GRCm39) E34G probably benign Het
Elovl7 A G 13: 108,408,382 (GRCm39) E127G probably damaging Het
Flg A T 3: 93,187,252 (GRCm39) R235* probably null Het
Gbp3 G A 3: 142,269,923 (GRCm39) V77M probably damaging Het
Gda A T 19: 21,372,569 (GRCm39) F450I probably benign Het
Gipc1 A G 8: 84,390,762 (GRCm39) E289G possibly damaging Het
Gm4924 T C 10: 82,214,778 (GRCm39) Y859H unknown Het
Gpatch1 A T 7: 34,994,738 (GRCm39) D509E possibly damaging Het
Gpbp1 A G 13: 111,577,233 (GRCm39) V219A possibly damaging Het
Gpr107 A T 2: 31,042,371 (GRCm39) M1L possibly damaging Het
Heg1 T C 16: 33,552,034 (GRCm39) F1003L probably damaging Het
Hivep1 A G 13: 42,309,814 (GRCm39) T685A probably benign Het
Hpse T A 5: 100,843,395 (GRCm39) D259V probably damaging Het
Ido2 A T 8: 25,040,826 (GRCm39) probably null Het
Ighv14-1 T C 12: 113,895,649 (GRCm39) D92G probably damaging Het
Krt87 A T 15: 101,385,083 (GRCm39) probably null Het
Lsp1 T C 7: 142,044,089 (GRCm39) V278A probably damaging Het
Lurap1l C A 4: 80,829,747 (GRCm39) S52R possibly damaging Het
Luzp2 A G 7: 54,485,577 (GRCm39) probably benign Het
Micall1 A G 15: 79,009,575 (GRCm39) E399G unknown Het
Ncapd2 A G 6: 125,163,119 (GRCm39) S130P possibly damaging Het
Nrg2 A G 18: 36,178,973 (GRCm39) V321A probably benign Het
Nuf2 T C 1: 169,352,954 (GRCm39) H17R probably damaging Het
Numb A G 12: 83,842,920 (GRCm39) W419R probably damaging Het
Or4d2b G A 11: 87,780,591 (GRCm39) L44F possibly damaging Het
Or4f62 T A 2: 111,986,507 (GRCm39) D70E probably damaging Het
Or56a3b A G 7: 104,771,473 (GRCm39) R270G probably benign Het
Pde6a T A 18: 61,353,678 (GRCm39) M1K probably null Het
Pknox1 C T 17: 31,822,172 (GRCm39) A313V probably damaging Het
Ppp2ca T A 11: 52,010,080 (GRCm39) N229K possibly damaging Het
Ptgdr A T 14: 45,096,401 (GRCm39) C104S probably damaging Het
Ralgapa2 C A 2: 146,230,406 (GRCm39) probably null Het
Rfx5 G T 3: 94,865,659 (GRCm39) K319N probably benign Het
Rnase10 A T 14: 51,247,242 (GRCm39) T207S probably damaging Het
Rreb1 A G 13: 38,125,608 (GRCm39) T1305A probably benign Het
Rrp12 C A 19: 41,859,744 (GRCm39) probably null Het
Rubcnl A C 14: 75,269,453 (GRCm39) D37A possibly damaging Het
Scn9a T C 2: 66,364,567 (GRCm39) Y802C probably damaging Het
Sec16a A T 2: 26,330,715 (GRCm39) Y433* probably null Het
Sgk3 T A 1: 9,956,227 (GRCm39) V331D probably benign Het
Sirt7 C T 11: 120,511,311 (GRCm39) R280H probably benign Het
Snx13 G C 12: 35,142,912 (GRCm39) R252S probably damaging Het
Stk32b G T 5: 37,624,125 (GRCm39) D207E probably damaging Het
Sult2a7 C T 7: 14,203,978 (GRCm39) V262I not run Het
Tcstv7b C T 13: 120,702,587 (GRCm39) L128F probably damaging Het
Tent5b T A 4: 133,213,518 (GRCm39) F130I probably damaging Het
Tmem33 G C 5: 67,421,130 (GRCm39) V35L possibly damaging Het
Uba1y A G Y: 825,537 (GRCm39) I300V probably benign Het
Usp32 A T 11: 84,942,060 (GRCm39) V344E probably benign Het
Usp50 C T 2: 126,625,218 (GRCm39) probably benign Het
Vmn1r238 A C 18: 3,122,661 (GRCm39) F251C probably damaging Het
Vmn2r74 A T 7: 85,601,150 (GRCm39) Y829* probably null Het
Wars1 A G 12: 108,846,982 (GRCm39) F141L probably damaging Het
Zfp879 A G 11: 50,724,621 (GRCm39) V145A probably benign Het
Zfp934 A T 13: 62,640,204 (GRCm39) V56D probably benign Het
Other mutations in Saxo5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02418:Saxo5 APN 8 3,526,080 (GRCm39) missense probably damaging 0.98
IGL02717:Saxo5 APN 8 3,536,970 (GRCm39) missense probably damaging 1.00
PIT4131001:Saxo5 UTSW 8 3,526,062 (GRCm39) missense possibly damaging 0.75
R1842:Saxo5 UTSW 8 3,533,668 (GRCm39) missense possibly damaging 0.92
R1928:Saxo5 UTSW 8 3,536,947 (GRCm39) missense possibly damaging 0.93
R2202:Saxo5 UTSW 8 3,529,028 (GRCm39) missense probably benign 0.01
R2224:Saxo5 UTSW 8 3,529,249 (GRCm39) missense probably benign 0.11
R2227:Saxo5 UTSW 8 3,529,249 (GRCm39) missense probably benign 0.11
R4162:Saxo5 UTSW 8 3,529,067 (GRCm39) missense probably damaging 1.00
R4413:Saxo5 UTSW 8 3,533,529 (GRCm39) missense probably damaging 0.99
R4441:Saxo5 UTSW 8 3,526,105 (GRCm39) missense probably damaging 0.97
R4807:Saxo5 UTSW 8 3,529,004 (GRCm39) missense possibly damaging 0.95
R4869:Saxo5 UTSW 8 3,537,148 (GRCm39) missense probably damaging 0.98
R5753:Saxo5 UTSW 8 3,534,112 (GRCm39) missense probably benign
R6457:Saxo5 UTSW 8 3,529,268 (GRCm39) missense probably damaging 1.00
R7007:Saxo5 UTSW 8 3,526,309 (GRCm39) missense probably damaging 1.00
R7386:Saxo5 UTSW 8 3,537,079 (GRCm39) missense probably benign
R7609:Saxo5 UTSW 8 3,526,057 (GRCm39) missense probably benign 0.02
R7738:Saxo5 UTSW 8 3,533,525 (GRCm39) missense probably damaging 1.00
R9000:Saxo5 UTSW 8 3,526,083 (GRCm39) missense possibly damaging 0.93
R9169:Saxo5 UTSW 8 3,525,967 (GRCm39) missense possibly damaging 0.94
R9473:Saxo5 UTSW 8 3,529,232 (GRCm39) missense probably benign 0.03
R9732:Saxo5 UTSW 8 3,526,167 (GRCm39) missense possibly damaging 0.85
Z1177:Saxo5 UTSW 8 3,526,213 (GRCm39) missense probably benign 0.45
Predicted Primers PCR Primer
(F):5'- GAGAGATCTTCCAGCCTCTAATG -3'
(R):5'- TGTAGGTCTGCTTCACGAGG -3'

Sequencing Primer
(F):5'- AGCCTCTAATGATCATGGTTGC -3'
(R):5'- CAGGGGACTATAGCCAACCTTG -3'
Posted On 2019-06-26