Incidental Mutation 'IGL01326:Saxo2'
ID74267
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Saxo2
Ensembl Gene ENSMUSG00000038570
Gene Namestabilizer of axonemal microtubules 2
SynonymsFam154b, 1700129I04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.155) question?
Stock #IGL01326
Quality Score
Status
Chromosome7
Chromosomal Location82632960-82648528 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 82648405 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 9 (I9V)
Ref Sequence ENSEMBL: ENSMUSP00000057993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039881] [ENSMUST00000056728] [ENSMUST00000126478] [ENSMUST00000141726] [ENSMUST00000179489] [ENSMUST00000207693] [ENSMUST00000207868]
Predicted Effect probably benign
Transcript: ENSMUST00000039881
SMART Domains Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563

DomainStartEndE-ValueType
Pfam:GTP_EFTU 17 365 7.4e-62 PFAM
low complexity region 435 451 N/A INTRINSIC
Pfam:EFG_II 614 687 4.3e-9 PFAM
EFG_C 986 1075 1.03e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000056728
AA Change: I9V

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000057993
Gene: ENSMUSG00000038570
AA Change: I9V

DomainStartEndE-ValueType
Pfam:STOP 4 201 3.6e-42 PFAM
Pfam:STOP 237 390 4.3e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125245
Predicted Effect probably benign
Transcript: ENSMUST00000126478
Predicted Effect probably benign
Transcript: ENSMUST00000141726
SMART Domains Protein: ENSMUSP00000121909
Gene: ENSMUSG00000038563

DomainStartEndE-ValueType
Pfam:GTP_EFTU 17 222 2.3e-57 PFAM
Pfam:MMR_HSR1 21 147 2e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156720
Predicted Effect probably benign
Transcript: ENSMUST00000179489
SMART Domains Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563

DomainStartEndE-ValueType
Pfam:GTP_EFTU 17 364 8.7e-58 PFAM
low complexity region 435 451 N/A INTRINSIC
Pfam:GTP_EFTU_D2 504 599 1e-7 PFAM
Pfam:EFG_II 614 687 1.8e-9 PFAM
EFG_C 986 1075 1.03e-12 SMART
Predicted Effect unknown
Transcript: ENSMUST00000207693
AA Change: I9V
Predicted Effect probably benign
Transcript: ENSMUST00000207868
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 G A 3: 138,286,911 V263M probably damaging Het
Akap13 T A 7: 75,725,348 H1909Q probably benign Het
Atg2b C T 12: 105,622,144 A1936T probably damaging Het
Atp8b3 G T 10: 80,524,376 L954M probably damaging Het
C8a T C 4: 104,856,420 Y171C probably damaging Het
Cd6 A G 19: 10,791,102 S508P probably benign Het
Cdk4 A G 10: 127,064,623 D86G possibly damaging Het
Cdr2l G T 11: 115,390,970 R100S probably benign Het
Cndp1 T A 18: 84,622,232 T283S probably benign Het
Cr2 T C 1: 195,141,221 Y1023C probably null Het
Csmd3 A G 15: 47,849,785 F1494L probably benign Het
Eng G T 2: 32,672,382 G231W probably benign Het
Erp44 A G 4: 48,218,126 V181A probably benign Het
Fam102b A G 3: 108,979,785 V299A possibly damaging Het
Fkbp15 A G 4: 62,323,250 S553P probably damaging Het
Glg1 A G 8: 111,182,573 V495A probably damaging Het
Gm9631 A T 11: 121,945,628 D28E possibly damaging Het
Gnptab G T 10: 88,433,065 L543F probably damaging Het
Hist1h4c A T 13: 23,698,370 I27N probably damaging Het
Khdrbs2 T G 1: 32,657,477 L329R possibly damaging Het
Kidins220 C A 12: 25,038,499 H1080Q probably damaging Het
Maml1 G A 11: 50,265,888 P487S probably benign Het
Marc2 T C 1: 184,833,851 probably benign Het
Me1 C T 9: 86,598,718 probably null Het
Morc2a C T 11: 3,681,775 R569C probably benign Het
Mrc1 A G 2: 14,266,524 Q413R probably damaging Het
Mrgprx1 A T 7: 48,021,769 C77S probably benign Het
Myo1d A T 11: 80,684,321 probably benign Het
Nr4a1 T G 15: 101,274,059 L538R probably damaging Het
Olfm1 T C 2: 28,229,552 Y385H probably damaging Het
Olfr1034 A G 2: 86,047,283 E267G probably damaging Het
Olfr1238 A T 2: 89,406,331 F249L possibly damaging Het
Pkd1 T A 17: 24,576,174 Y2278* probably null Het
Plcg2 T C 8: 117,573,999 probably benign Het
Prkdc G T 16: 15,829,692 C3660F probably benign Het
Ptpn11 T C 5: 121,143,136 D493G probably damaging Het
Rad23b T A 4: 55,383,601 F278I possibly damaging Het
Scn7a T C 2: 66,752,260 I98V probably benign Het
Serac1 T A 17: 6,074,253 probably benign Het
Simc1 T C 13: 54,524,660 C274R probably benign Het
Sirt3 A G 7: 140,864,093 probably benign Het
Tctn3 A G 19: 40,597,436 L555P probably damaging Het
Ttc14 A G 3: 33,801,358 I151V probably benign Het
Ush2a T A 1: 188,263,321 Y96* probably null Het
Usp42 T C 5: 143,721,215 T270A possibly damaging Het
Vmn1r31 A G 6: 58,472,799 I27T probably benign Het
Vmn2r93 G A 17: 18,316,644 A530T possibly damaging Het
Other mutations in Saxo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01992:Saxo2 APN 7 82634900 missense probably damaging 0.97
R0973:Saxo2 UTSW 7 82634870 missense probably benign 0.00
R0973:Saxo2 UTSW 7 82634870 missense probably benign 0.00
R0974:Saxo2 UTSW 7 82634870 missense probably benign 0.00
R1169:Saxo2 UTSW 7 82635171 missense possibly damaging 0.77
R3113:Saxo2 UTSW 7 82643741 missense probably benign 0.05
R4912:Saxo2 UTSW 7 82634535 missense probably benign 0.00
R5406:Saxo2 UTSW 7 82635378 missense probably benign
R5784:Saxo2 UTSW 7 82634874 missense probably benign 0.01
R6344:Saxo2 UTSW 7 82634865 missense probably damaging 0.96
R6677:Saxo2 UTSW 7 82635276 missense probably benign 0.01
R6806:Saxo2 UTSW 7 82635032 missense probably benign 0.00
R6912:Saxo2 UTSW 7 82635194 missense possibly damaging 0.89
R6968:Saxo2 UTSW 7 82643761 missense probably damaging 0.99
R7621:Saxo2 UTSW 7 82648417 missense possibly damaging 0.67
R7655:Saxo2 UTSW 7 82635351 missense probably damaging 1.00
R7656:Saxo2 UTSW 7 82635351 missense probably damaging 1.00
Posted On2013-10-07