Incidental Mutation 'R2384:Saxo4'
ID 247665
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 040358-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2384 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 10451599-10460292 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to C at 10458646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038842] [ENSMUST00000038842]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000038842
Predicted Effect probably null
Transcript: ENSMUST00000038842
Meta Mutation Damage Score 0.9495 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 92.5%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4933414I15Rik A G 11: 50,833,333 (GRCm39) S90P unknown Het
Abca13 T C 11: 9,217,450 (GRCm39) probably benign Het
Chpf C T 1: 75,451,753 (GRCm39) R567H probably benign Het
Cnp A G 11: 100,467,279 (GRCm39) Y74C probably damaging Het
Cul3 A T 1: 80,261,406 (GRCm39) V273D probably damaging Het
Dnmt3a A G 12: 3,951,591 (GRCm39) Y656C probably damaging Het
Erich3 A T 3: 154,470,288 (GRCm39) E107V possibly damaging Het
Fscn2 T C 11: 120,257,559 (GRCm39) S307P possibly damaging Het
Grm5 A G 7: 87,251,936 (GRCm39) E62G probably damaging Het
Hdac4 T C 1: 91,912,207 (GRCm39) Y394C probably benign Het
Hipk2 A G 6: 38,795,306 (GRCm39) I314T probably damaging Het
Hsd17b12 T A 2: 93,863,964 (GRCm39) I293L probably benign Het
Il36g A G 2: 24,082,660 (GRCm39) H145R probably benign Het
Ints12 T A 3: 132,814,864 (GRCm39) probably null Het
Khdrbs2 T C 1: 32,558,976 (GRCm39) S369G probably damaging Het
Klrh1 T A 6: 129,749,343 (GRCm39) H84L probably benign Het
Mup5 T A 4: 61,753,261 (GRCm39) probably null Het
Nlrp4g A G 9: 124,349,707 (GRCm38) noncoding transcript Het
Obscn A G 11: 58,933,663 (GRCm39) probably null Het
Ogdh C A 11: 6,292,526 (GRCm39) A413D probably damaging Het
Podn T C 4: 107,879,269 (GRCm39) E283G probably damaging Het
Ripk1 A G 13: 34,214,026 (GRCm39) D456G probably benign Het
Scg3 T C 9: 75,573,008 (GRCm39) T308A probably damaging Het
Sele A G 1: 163,878,344 (GRCm39) T228A probably benign Het
Slc41a3 A G 6: 90,603,393 (GRCm39) E138G probably damaging Het
Tmem161a T C 8: 70,630,204 (GRCm39) V104A probably benign Het
Tmem232 G A 17: 65,709,852 (GRCm39) R479W probably damaging Het
Trim26 C T 17: 37,161,781 (GRCm39) P67S probably damaging Het
Trpm8 A G 1: 88,287,378 (GRCm39) Y787C probably benign Het
Ttc28 T A 5: 111,424,074 (GRCm39) V1447D possibly damaging Het
Uaca G A 9: 60,777,199 (GRCm39) A527T probably damaging Het
Ucp2 A G 7: 100,147,461 (GRCm39) I172V probably benign Het
Zzef1 T A 11: 72,749,220 (GRCm39) Y903N probably damaging 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
R4362:Saxo4 UTSW 19 10,452,385 (GRCm39) missense probably damaging 1.00
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'- CGGGATAAAGACAGGACCAC -3'
(R):5'- CCCAGAACAAAGAAGGTGGC -3'

Sequencing Primer
(F):5'- ACCACAGTGGGGAGCGAC -3'
(R):5'- GGGGGCCCATCTCTTGCTTC -3'
Posted On 2014-11-11