Incidental Mutation 'R4362:Saxo4'
ID 324974
Institutional Source Beutler Lab
Gene Symbol Saxo4
Ensembl Gene ENSMUSG00000035179
Gene Name stabilizer of axonemal microtubules 4
Synonyms IIIG9, IIIG9L, 4930579J09Rik, Ppp1r32, IIIG9S
MMRRC Submission 041671-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4362 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 10451599-10460292 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10452385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 375 (Y375C)
Ref Sequence ENSEMBL: ENSMUSP00000035684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038842]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000038842
AA Change: Y375C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.4375 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik C T 7: 28,947,687 (GRCm39) probably benign Het
Abcc6 A G 7: 45,648,256 (GRCm39) probably benign Het
Adamts13 G A 2: 26,894,794 (GRCm39) C1034Y probably damaging Het
Atp2b4 G T 1: 133,667,669 (GRCm39) P125Q possibly damaging Het
Atp8b1 C T 18: 64,697,608 (GRCm39) R412H probably damaging Het
Bicc1 ATGTG ATG 10: 70,779,204 (GRCm39) probably null Het
Cap1 G A 4: 122,756,780 (GRCm39) P302S probably benign Het
Chodl G T 16: 78,741,546 (GRCm39) probably null Het
Cplane1 T A 15: 8,300,229 (GRCm39) S3179T unknown Het
Cplx2 A T 13: 54,526,630 (GRCm39) T13S probably benign Het
Dennd5a G A 7: 109,495,550 (GRCm39) R1194W probably damaging Het
Dsc2 T A 18: 20,183,214 (GRCm39) D68V probably damaging Het
Dus4l A C 12: 31,698,827 (GRCm39) I59R probably damaging Het
Edc3 C T 9: 57,620,829 (GRCm39) P50L probably damaging Het
Ext1 G A 15: 52,970,987 (GRCm39) probably benign Het
Fam219a C T 4: 41,518,844 (GRCm39) probably benign Het
Fbxl3 A T 14: 103,329,749 (GRCm39) D106E probably damaging Het
Garem1 T C 18: 21,369,172 (GRCm39) N50D possibly damaging Het
Gins1 G A 2: 150,751,682 (GRCm39) R15H probably damaging Het
Glrx2 A G 1: 143,617,418 (GRCm39) K44R possibly damaging Het
Icam1 A G 9: 20,937,608 (GRCm39) D215G possibly damaging Het
Nedd9 A T 13: 41,471,429 (GRCm39) I184N probably damaging Het
Or10a2 T C 7: 106,673,799 (GRCm39) S255P probably damaging Het
Or1e21 T C 11: 73,344,391 (GRCm39) M216V probably benign Het
Otulinl C T 15: 27,664,429 (GRCm39) probably null Het
Rhot2 A G 17: 26,061,065 (GRCm39) C147R probably damaging Het
Setd4 T C 16: 93,380,574 (GRCm39) probably null Het
Slc6a4 A G 11: 76,907,904 (GRCm39) N356S probably damaging Het
Tas2r136 C A 6: 132,754,972 (GRCm39) V52L probably damaging Het
Tmem168 A C 6: 13,595,072 (GRCm39) I381S probably benign Het
Tnfrsf11b T A 15: 54,119,555 (GRCm39) T140S possibly damaging Het
Ttpa G T 4: 20,023,827 (GRCm39) E130* probably null Het
Ubr5 A G 15: 38,078,647 (GRCm39) V8A probably damaging Het
Vmn2r18 C T 5: 151,496,368 (GRCm39) C450Y probably damaging Het
Vmn2r32 A T 7: 7,482,857 (GRCm39) L39* probably null Het
Other mutations in Saxo4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Saxo4 APN 19 10,454,887 (GRCm39) critical splice donor site probably null
IGL00979:Saxo4 APN 19 10,451,863 (GRCm39) makesense probably null
IGL02405:Saxo4 APN 19 10,451,930 (GRCm39) missense probably damaging 1.00
IGL02664:Saxo4 APN 19 10,459,655 (GRCm39) missense probably damaging 1.00
IGL03105:Saxo4 APN 19 10,454,384 (GRCm39) splice site probably benign
R0255:Saxo4 UTSW 19 10,452,418 (GRCm39) missense probably damaging 1.00
R0268:Saxo4 UTSW 19 10,454,449 (GRCm39) missense possibly damaging 0.88
R1018:Saxo4 UTSW 19 10,456,824 (GRCm39) splice site probably benign
R1559:Saxo4 UTSW 19 10,458,770 (GRCm39) missense probably benign 0.01
R2384:Saxo4 UTSW 19 10,458,646 (GRCm39) critical splice donor site probably null
R4884:Saxo4 UTSW 19 10,451,865 (GRCm39) makesense probably null
R5998:Saxo4 UTSW 19 10,458,716 (GRCm39) missense possibly damaging 0.50
R6130:Saxo4 UTSW 19 10,455,128 (GRCm39) missense probably benign 0.16
R6360:Saxo4 UTSW 19 10,456,845 (GRCm39) missense probably damaging 1.00
R6388:Saxo4 UTSW 19 10,459,665 (GRCm39) missense probably damaging 1.00
R6625:Saxo4 UTSW 19 10,459,100 (GRCm39) missense probably damaging 0.97
R6754:Saxo4 UTSW 19 10,454,453 (GRCm39) missense probably damaging 1.00
R7188:Saxo4 UTSW 19 10,459,702 (GRCm39) missense probably benign 0.15
R7361:Saxo4 UTSW 19 10,456,943 (GRCm39) missense probably damaging 1.00
R7679:Saxo4 UTSW 19 10,459,618 (GRCm39) missense probably damaging 1.00
R8157:Saxo4 UTSW 19 10,455,629 (GRCm39) missense probably damaging 1.00
R8797:Saxo4 UTSW 19 10,455,602 (GRCm39) missense probably benign 0.43
R8859:Saxo4 UTSW 19 10,459,599 (GRCm39) missense probably damaging 1.00
R9315:Saxo4 UTSW 19 10,458,767 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGAGGGAATGAATCTGGCCAG -3'
(R):5'- TCCTGATTGAGTGTCCTGCG -3'

Sequencing Primer
(F):5'- TGAATCTGGCCAGGTAGGAG -3'
(R):5'- TGCGGCTCAGGTATGACAG -3'
Posted On 2015-07-06