Incidental Mutation 'R5998:Saxo4'
ID 480695
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 044177-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5998 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 10451599-10460292 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 10458716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 105 (W105R)
Ref Sequence ENSEMBL: ENSMUSP00000035684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038842]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000038842
AA Change: W105R

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,517,708 (GRCm39) V4437I probably damaging Het
Acot12 T C 13: 91,905,653 (GRCm39) I71T possibly damaging Het
Adcy10 A G 1: 165,369,218 (GRCm39) I630V probably benign Het
Adcy3 T A 12: 4,248,348 (GRCm39) V470E probably damaging Het
Adcy6 C A 15: 98,492,235 (GRCm39) E1008* probably null Het
Adgrb3 A T 1: 25,470,582 (GRCm39) probably null Het
Ahrr T A 13: 74,361,955 (GRCm39) S515C probably damaging Het
Ankrd52 T C 10: 128,218,992 (GRCm39) I416T probably damaging Het
Arhgap45 T C 10: 79,866,784 (GRCm39) S1096P probably damaging Het
Atp8b4 A G 2: 126,275,787 (GRCm39) probably null Het
Bcl6b A C 11: 70,119,009 (GRCm39) I200M probably damaging Het
Btbd19 T A 4: 116,978,196 (GRCm39) E234V probably benign Het
Csmd1 G A 8: 15,960,443 (GRCm39) T3324I probably damaging Het
Cyp2a5 G A 7: 26,536,578 (GRCm39) V186I probably benign Het
Eif4a3l1 T C 6: 136,305,622 (GRCm39) F28L probably benign Het
Glb1l2 G A 9: 26,677,299 (GRCm39) T533I possibly damaging Het
Helz G T 11: 107,576,360 (GRCm39) E1851* probably null Het
Igkv15-103 T A 6: 68,414,489 (GRCm39) F13Y unknown Het
Kcnq2 T C 2: 180,728,801 (GRCm39) H548R probably damaging Het
Mcm3ap T C 10: 76,316,976 (GRCm39) probably null Het
Micall2 T C 5: 139,692,666 (GRCm39) probably null Het
Mill2 A G 7: 18,573,989 (GRCm39) R25G probably benign Het
Mtcl1 G A 17: 66,675,275 (GRCm39) H1041Y probably damaging Het
Or5k16 T C 16: 58,736,993 (GRCm39) T4A probably benign Het
Or8d2b G A 9: 38,789,165 (GRCm39) R231H probably damaging Het
Pigt A G 2: 164,349,374 (GRCm39) E559G possibly damaging Het
Pkdrej A G 15: 85,699,654 (GRCm39) V2094A probably benign Het
Prkdc T A 16: 15,601,021 (GRCm39) L2894Q probably damaging Het
Speer4a2 T C 5: 26,289,704 (GRCm39) D241G probably damaging Het
Tmem63b A G 17: 45,980,926 (GRCm39) V256A possibly damaging Het
Zfp516 T C 18: 82,974,639 (GRCm39) L279P probably damaging Het
Zfp780b T A 7: 27,664,047 (GRCm39) K169N probably benign 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
R4362:Saxo4 UTSW 19 10,452,385 (GRCm39) missense probably damaging 1.00
R4884:Saxo4 UTSW 19 10,451,865 (GRCm39) makesense probably null
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'- TATGCAATGGGTAGAGGTGC -3'
(R):5'- TCCAAAGCAAGGCCTGAATG -3'

Sequencing Primer
(F):5'- CTACTTCAGCTTGCTAGAGGAAC -3'
(R):5'- AGATGATGCTCCTGGGAATAAGTAC -3'
Posted On 2017-06-26