Incidental Mutation 'R6625:Saxo4'
ID 524772
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 044747-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6625 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 10451599-10460292 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 10459100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 65 (P65L)
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: P65L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.6%
Validation Efficiency 91% (30/33)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Apcdd1 C A 18: 63,084,929 (GRCm39) D375E probably damaging Het
Cacna2d1 A T 5: 16,567,391 (GRCm39) R984W probably null Het
Csmd3 T G 15: 47,470,471 (GRCm39) I3402L probably benign Het
Dnah7a T A 1: 53,604,916 (GRCm39) T1281S probably benign Het
Dnmt3b T C 2: 153,507,233 (GRCm39) I139T probably benign Het
Dtnbp1 T C 13: 45,145,507 (GRCm39) E40G possibly damaging Het
Fam162b C T 10: 51,466,391 (GRCm39) G43R probably damaging Het
G2e3 T G 12: 51,400,572 (GRCm39) probably null Het
Kiss1r G A 10: 79,755,368 (GRCm39) V118I possibly damaging Het
Mre11a T C 9: 14,716,687 (GRCm39) M294T possibly damaging Het
Muc16 A T 9: 18,571,574 (GRCm39) V315D unknown Het
Nelfe C T 17: 35,073,334 (GRCm39) P290S probably benign Het
Or2v2 T A 11: 49,003,896 (GRCm39) Y219F probably damaging Het
Or5a3 T G 19: 12,400,205 (GRCm39) H177Q probably damaging Het
Pcolce2 T A 9: 95,560,492 (GRCm39) C180* probably null Het
Piezo2 A T 18: 63,154,333 (GRCm39) V2482D probably damaging Het
Plagl1 T C 10: 13,003,806 (GRCm39) probably benign Het
Pramel31 T A 4: 144,090,369 (GRCm39) Y470N probably damaging Het
Pramel57 C T 5: 95,669,342 (GRCm39) H124Y possibly damaging Het
Prss48 G T 3: 85,905,373 (GRCm39) Q167K probably benign Het
Scyl1 C A 19: 5,810,854 (GRCm39) V488F probably damaging Het
Sh3pxd2b T A 11: 32,372,594 (GRCm39) L587Q possibly damaging Het
Sim1 A G 10: 50,860,082 (GRCm39) D648G probably benign Het
Snupn G A 9: 56,890,054 (GRCm39) V292I probably benign Het
St6galnac1 T C 11: 116,656,717 (GRCm39) H474R probably damaging Het
Thap12 G A 7: 98,365,277 (GRCm39) V482I probably benign Het
Usp13 T A 3: 32,949,025 (GRCm39) V454D probably damaging Het
Usp40 T C 1: 87,894,935 (GRCm39) I862V probably benign Het
Vmn2r59 A T 7: 41,693,177 (GRCm39) F474L probably benign Het
Zbtb38 T C 9: 96,569,366 (GRCm39) R573G probably damaging Het
Zfp493 C T 13: 67,934,514 (GRCm39) Q156* probably null Het
Zfp873 C A 10: 81,896,138 (GRCm39) P290T 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
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
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
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'- ACTTATTCCCAGGAGCATCATCTC -3'
(R):5'- TTAGGGTTCCTTAGGCCCTG -3'

Sequencing Primer
(F):5'- AATGTTTTAAGAGTCCTTCTTGGCC -3'
(R):5'- CTGGTGGCTGCTGGCTC -3'
Posted On 2018-06-22