Incidental Mutation 'IGL00959:Saxo4'
ID 29533
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Saxo4
Ensembl Gene ENSMUSG00000035179
Gene Name stabilizer of axonemal microtubules 4
Synonyms IIIG9, IIIG9L, 4930579J09Rik, Ppp1r32, IIIG9S
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00959
Quality Score
Status
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 T at 10454887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038842]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000038842
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b A T 11: 69,057,069 (GRCm39) H430L probably damaging Het
Aox4 G T 1: 58,278,333 (GRCm39) V443F probably damaging Het
Bmpr2 A T 1: 59,854,474 (GRCm39) I108F possibly damaging Het
Cflar G A 1: 58,768,321 (GRCm39) probably null Het
Chchd3 A G 6: 32,945,188 (GRCm39) V106A probably benign Het
Chl1 G T 6: 103,686,211 (GRCm39) probably null Het
Clvs2 C T 10: 33,404,459 (GRCm39) M252I probably benign Het
Cntnap5a T A 1: 116,112,057 (GRCm39) L449Q probably benign Het
Col6a2 T A 10: 76,450,368 (GRCm39) I188F probably damaging Het
Cyp2c55 A G 19: 39,026,587 (GRCm39) D398G probably benign Het
Dennd1b T C 1: 139,071,626 (GRCm39) probably benign Het
Dop1a T A 9: 86,369,484 (GRCm39) Y106N probably damaging Het
Dpy19l1 A T 9: 24,334,493 (GRCm39) probably null Het
Extl3 C T 14: 65,314,361 (GRCm39) V274I probably benign Het
Fras1 G A 5: 96,929,140 (GRCm39) R3848H probably damaging Het
Gm11437 A C 11: 84,039,448 (GRCm39) probably benign Het
Gss T A 2: 155,423,871 (GRCm39) D2V probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ilvbl G A 10: 78,419,739 (GRCm39) D548N probably damaging Het
Jmjd6 A T 11: 116,733,202 (GRCm39) D115E possibly damaging Het
Kidins220 T A 12: 25,101,132 (GRCm39) S1110R possibly damaging Het
Kmt2c T A 5: 25,481,227 (GRCm39) I4784F probably damaging Het
Mrpl52 T C 14: 54,664,494 (GRCm39) V11A possibly damaging Het
Myo3b A G 2: 70,144,636 (GRCm39) Y1036C probably damaging Het
Omp T C 7: 97,794,357 (GRCm39) D90G probably damaging Het
Or6c2b T A 10: 128,947,893 (GRCm39) M134L probably benign Het
Osmr T C 15: 6,854,086 (GRCm39) I541V probably benign Het
Ppp2r1a A T 17: 21,181,840 (GRCm39) probably benign Het
Ptpn13 T A 5: 103,665,437 (GRCm39) probably null Het
Rock2 C A 12: 17,028,056 (GRCm39) N1429K probably benign Het
Slc25a20 T G 9: 108,559,198 (GRCm39) M188R possibly damaging Het
Slc28a1 T C 7: 80,818,816 (GRCm39) probably benign Het
Sult2a6 T C 7: 13,988,634 (GRCm39) Y42C probably damaging Het
Tgfb2 A G 1: 186,436,784 (GRCm39) V63A probably benign Het
Ugt2b38 A T 5: 87,559,682 (GRCm39) N403K probably damaging Het
Vmn2r29 A G 7: 7,244,855 (GRCm39) W340R probably benign Het
Wnt5a C T 14: 28,244,866 (GRCm39) T351M probably damaging Het
Other mutations in Saxo4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-04-17