Incidental Mutation 'IGL01326:Saxo2'
ID 74267
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Saxo2
Ensembl Gene ENSMUSG00000038570
Gene Name stabilizer of axonemal microtubules 2
Synonyms Fam154b, 1700129I04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # IGL01326
Quality Score
Status
Chromosome 7
Chromosomal Location 82282168-82297736 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82297613 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000207693] [ENSMUST00000207868] [ENSMUST00000179489]
AlphaFold Q8BQB6
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 unknown
Transcript: ENSMUST00000207693
AA Change: I9V
Predicted Effect probably benign
Transcript: ENSMUST00000207868
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 G A 3: 137,992,672 (GRCm39) V263M probably damaging Het
Akap13 T A 7: 75,375,096 (GRCm39) H1909Q probably benign Het
Atg2b C T 12: 105,588,403 (GRCm39) A1936T probably damaging Het
Atp8b3 G T 10: 80,360,210 (GRCm39) L954M probably damaging Het
C8a T C 4: 104,713,617 (GRCm39) Y171C probably damaging Het
Cd6 A G 19: 10,768,466 (GRCm39) S508P probably benign Het
Cdk4 A G 10: 126,900,492 (GRCm39) D86G possibly damaging Het
Cdr2l G T 11: 115,281,796 (GRCm39) R100S probably benign Het
Cndp1 T A 18: 84,640,357 (GRCm39) T283S probably benign Het
Cr2 T C 1: 194,823,529 (GRCm39) Y1023C probably null Het
Csmd3 A G 15: 47,713,181 (GRCm39) F1494L probably benign Het
Eeig2 A G 3: 108,887,101 (GRCm39) V299A possibly damaging Het
Eng G T 2: 32,562,394 (GRCm39) G231W probably benign Het
Erp44 A G 4: 48,218,126 (GRCm39) V181A probably benign Het
Fkbp15 A G 4: 62,241,487 (GRCm39) S553P probably damaging Het
Glg1 A G 8: 111,909,205 (GRCm39) V495A probably damaging Het
Gm9631 A T 11: 121,836,454 (GRCm39) D28E possibly damaging Het
Gnptab G T 10: 88,268,927 (GRCm39) L543F probably damaging Het
H4c3 A T 13: 23,882,353 (GRCm39) I27N probably damaging Het
Khdrbs2 T G 1: 32,696,558 (GRCm39) L329R possibly damaging Het
Kidins220 C A 12: 25,088,498 (GRCm39) H1080Q probably damaging Het
Maml1 G A 11: 50,156,715 (GRCm39) P487S probably benign Het
Me1 C T 9: 86,480,771 (GRCm39) probably null Het
Morc2a C T 11: 3,631,775 (GRCm39) R569C probably benign Het
Mrc1 A G 2: 14,271,335 (GRCm39) Q413R probably damaging Het
Mrgprx1 A T 7: 47,671,517 (GRCm39) C77S probably benign Het
Mtarc2 T C 1: 184,566,048 (GRCm39) probably benign Het
Myo1d A T 11: 80,575,147 (GRCm39) probably benign Het
Nr4a1 T G 15: 101,171,940 (GRCm39) L538R probably damaging Het
Olfm1 T C 2: 28,119,564 (GRCm39) Y385H probably damaging Het
Or4a39 A T 2: 89,236,675 (GRCm39) F249L possibly damaging Het
Or5m9 A G 2: 85,877,627 (GRCm39) E267G probably damaging Het
Pkd1 T A 17: 24,795,148 (GRCm39) Y2278* probably null Het
Plcg2 T C 8: 118,300,738 (GRCm39) probably benign Het
Prkdc G T 16: 15,647,556 (GRCm39) C3660F probably benign Het
Ptpn11 T C 5: 121,281,199 (GRCm39) D493G probably damaging Het
Rad23b T A 4: 55,383,601 (GRCm39) F278I possibly damaging Het
Scn7a T C 2: 66,582,604 (GRCm39) I98V probably benign Het
Serac1 T A 17: 6,124,528 (GRCm39) probably benign Het
Simc1 T C 13: 54,672,473 (GRCm39) C274R probably benign Het
Sirt3 A G 7: 140,444,006 (GRCm39) probably benign Het
Tctn3 A G 19: 40,585,880 (GRCm39) L555P probably damaging Het
Ttc14 A G 3: 33,855,507 (GRCm39) I151V probably benign Het
Ush2a T A 1: 187,995,518 (GRCm39) Y96* probably null Het
Usp42 T C 5: 143,706,970 (GRCm39) T270A possibly damaging Het
Vmn1r31 A G 6: 58,449,784 (GRCm39) I27T probably benign Het
Vmn2r93 G A 17: 18,536,906 (GRCm39) A530T possibly damaging Het
Other mutations in Saxo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01992:Saxo2 APN 7 82,284,108 (GRCm39) missense probably damaging 0.97
R0973:Saxo2 UTSW 7 82,284,078 (GRCm39) missense probably benign 0.00
R0973:Saxo2 UTSW 7 82,284,078 (GRCm39) missense probably benign 0.00
R0974:Saxo2 UTSW 7 82,284,078 (GRCm39) missense probably benign 0.00
R1169:Saxo2 UTSW 7 82,284,379 (GRCm39) missense possibly damaging 0.77
R3113:Saxo2 UTSW 7 82,292,949 (GRCm39) missense probably benign 0.05
R4912:Saxo2 UTSW 7 82,283,743 (GRCm39) missense probably benign 0.00
R5406:Saxo2 UTSW 7 82,284,586 (GRCm39) missense probably benign
R5784:Saxo2 UTSW 7 82,284,082 (GRCm39) missense probably benign 0.01
R6344:Saxo2 UTSW 7 82,284,073 (GRCm39) missense probably damaging 0.96
R6677:Saxo2 UTSW 7 82,284,484 (GRCm39) missense probably benign 0.01
R6806:Saxo2 UTSW 7 82,284,240 (GRCm39) missense probably benign 0.00
R6912:Saxo2 UTSW 7 82,284,402 (GRCm39) missense possibly damaging 0.89
R6968:Saxo2 UTSW 7 82,292,969 (GRCm39) missense probably damaging 0.99
R7621:Saxo2 UTSW 7 82,297,625 (GRCm39) missense possibly damaging 0.67
R7655:Saxo2 UTSW 7 82,284,559 (GRCm39) missense probably damaging 1.00
R7656:Saxo2 UTSW 7 82,284,559 (GRCm39) missense probably damaging 1.00
R9108:Saxo2 UTSW 7 82,284,082 (GRCm39) missense probably benign 0.01
R9241:Saxo2 UTSW 7 82,284,250 (GRCm39) missense probably benign 0.00
R9682:Saxo2 UTSW 7 82,292,881 (GRCm39) missense probably benign 0.12
Posted On 2013-10-07