Incidental Mutation 'IGL02251:Spag5'
ID 286385
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spag5
Ensembl Gene ENSMUSG00000002055
Gene Name sperm associated antigen 5
Synonyms s17, Astrin, Mastrin, MAP126, Deepest, D11Bhm180e, S17
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02251
Quality Score
Status
Chromosome 11
Chromosomal Location 78192412-78213283 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 78210860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Cysteine at position 921 (F921C)
Ref Sequence ENSEMBL: ENSMUSP00000045286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017534] [ENSMUST00000045026] [ENSMUST00000102478]
AlphaFold Q7TME2
Predicted Effect probably benign
Transcript: ENSMUST00000017534
SMART Domains Protein: ENSMUSP00000017534
Gene: ENSMUSG00000017390

DomainStartEndE-ValueType
Pfam:Glycolytic 15 363 2.6e-185 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000045026
AA Change: F921C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045286
Gene: ENSMUSG00000002055
AA Change: F921C

DomainStartEndE-ValueType
low complexity region 405 420 N/A INTRINSIC
low complexity region 477 493 N/A INTRINSIC
coiled coil region 514 547 N/A INTRINSIC
coiled coil region 638 700 N/A INTRINSIC
coiled coil region 743 854 N/A INTRINSIC
low complexity region 898 912 N/A INTRINSIC
coiled coil region 970 1006 N/A INTRINSIC
coiled coil region 1032 1068 N/A INTRINSIC
coiled coil region 1104 1140 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102478
SMART Domains Protein: ENSMUSP00000099536
Gene: ENSMUSG00000017390

DomainStartEndE-ValueType
Pfam:Glycolytic 15 363 5.5e-179 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133579
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148689
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein associated with the mitotic spindle apparatus. The encoded protein may be involved in the functional and dynamic regulation of mitotic spindles. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation are viable and fertile with normal breeding and mating behavio; no abnormalities in male reproductive system anatomy or histology or in spermatogenesis were detectable. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,626,840 (GRCm39) C1406R probably damaging Het
Acp2 T A 2: 91,038,678 (GRCm39) probably null Het
Antxr2 A C 5: 98,125,454 (GRCm39) probably null Het
Arhgef11 C T 3: 87,590,854 (GRCm39) R32C probably damaging Het
Armc6 A T 8: 70,677,870 (GRCm39) L153* probably null Het
Btnl2 G T 17: 34,582,213 (GRCm39) G260* probably null Het
Ccnf A G 17: 24,445,513 (GRCm39) S551P probably benign Het
Cdh19 A G 1: 110,882,382 (GRCm39) S37P probably benign Het
Cntnap3 T A 13: 64,909,850 (GRCm39) T752S probably damaging Het
Crispld1 A G 1: 17,799,064 (GRCm39) M62V probably benign Het
Ddr1 G A 17: 35,994,372 (GRCm39) A801V probably damaging Het
Dner G T 1: 84,361,747 (GRCm39) Q621K probably damaging Het
Dph6 A G 2: 114,366,004 (GRCm39) probably null Het
Dpp3 T G 19: 4,968,343 (GRCm39) H243P probably benign Het
Eif3j2 T A 18: 43,610,431 (GRCm39) K127N probably damaging Het
Esrp1 G A 4: 11,361,202 (GRCm39) R315C probably damaging Het
Gm973 A C 1: 59,621,582 (GRCm39) H574P probably benign Het
Gprasp1 G A X: 134,701,288 (GRCm39) V494I probably benign Het
Hbb-bh1 T A 7: 103,492,017 (GRCm39) K66* probably null Het
Hoxb9 T A 11: 96,165,651 (GRCm39) M240K probably damaging Het
Irf2 T C 8: 47,260,788 (GRCm39) probably null Het
Lgi4 A G 7: 30,766,688 (GRCm39) probably null Het
Mylk3 C T 8: 86,081,805 (GRCm39) V328M probably benign Het
Nf2 T C 11: 4,798,873 (GRCm39) E38G probably null Het
Or4k40 A C 2: 111,250,657 (GRCm39) L213R probably damaging Het
Or51l14 A T 7: 103,100,978 (GRCm39) K145* probably null Het
Pdpk1 A G 17: 24,298,612 (GRCm39) F346L probably damaging Het
Prex1 T C 2: 166,419,806 (GRCm39) Y1120C probably damaging Het
Rab3gap1 A G 1: 127,865,237 (GRCm39) T742A probably benign Het
Scai A T 2: 38,989,429 (GRCm39) D401E probably benign Het
Scd1 T C 19: 44,386,533 (GRCm39) H298R probably damaging Het
Shld2 T C 14: 33,990,235 (GRCm39) R224G probably benign Het
Slc45a1 A G 4: 150,723,176 (GRCm39) probably benign Het
Smim10l1 G T 6: 133,082,471 (GRCm39) R6L probably damaging Het
Sun1 T C 5: 139,227,186 (GRCm39) S667P probably damaging Het
Tas2r124 A G 6: 132,732,524 (GRCm39) I278V probably benign Het
Thbs1 G A 2: 117,943,999 (GRCm39) D206N probably benign Het
Trim37 T A 11: 87,058,256 (GRCm39) probably benign Het
Vcp T C 4: 42,988,728 (GRCm39) T249A possibly damaging Het
Vmn2r103 A G 17: 20,014,231 (GRCm39) N341S possibly damaging Het
Zmat3 A G 3: 32,399,732 (GRCm39) probably benign Het
Other mutations in Spag5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01380:Spag5 APN 11 78,195,443 (GRCm39) missense possibly damaging 0.62
IGL01820:Spag5 APN 11 78,195,085 (GRCm39) missense probably benign 0.06
IGL02066:Spag5 APN 11 78,195,358 (GRCm39) missense probably benign
IGL02140:Spag5 APN 11 78,206,459 (GRCm39) missense possibly damaging 0.62
IGL02452:Spag5 APN 11 78,195,449 (GRCm39) missense probably benign 0.08
IGL02658:Spag5 APN 11 78,212,157 (GRCm39) nonsense probably null
boyardee UTSW 11 78,204,017 (GRCm39) critical splice donor site probably null
Franco UTSW 11 78,205,008 (GRCm39) nonsense probably null
spaghetto UTSW 11 78,204,205 (GRCm39) nonsense probably null
IGL02991:Spag5 UTSW 11 78,205,077 (GRCm39) missense probably damaging 0.99
R0477:Spag5 UTSW 11 78,205,024 (GRCm39) missense probably damaging 1.00
R0512:Spag5 UTSW 11 78,210,412 (GRCm39) unclassified probably benign
R0535:Spag5 UTSW 11 78,195,554 (GRCm39) missense probably benign 0.00
R0557:Spag5 UTSW 11 78,205,037 (GRCm39) missense probably damaging 0.99
R0584:Spag5 UTSW 11 78,194,921 (GRCm39) missense possibly damaging 0.49
R0666:Spag5 UTSW 11 78,204,222 (GRCm39) missense probably damaging 1.00
R0723:Spag5 UTSW 11 78,210,410 (GRCm39) unclassified probably benign
R1413:Spag5 UTSW 11 78,196,143 (GRCm39) nonsense probably null
R1680:Spag5 UTSW 11 78,211,442 (GRCm39) missense probably damaging 1.00
R1687:Spag5 UTSW 11 78,195,755 (GRCm39) missense probably benign 0.32
R1696:Spag5 UTSW 11 78,212,152 (GRCm39) missense probably damaging 1.00
R1831:Spag5 UTSW 11 78,205,082 (GRCm39) missense probably benign 0.08
R1866:Spag5 UTSW 11 78,195,281 (GRCm39) missense possibly damaging 0.62
R1918:Spag5 UTSW 11 78,195,002 (GRCm39) missense probably benign 0.01
R4004:Spag5 UTSW 11 78,212,355 (GRCm39) missense probably benign 0.22
R4005:Spag5 UTSW 11 78,212,355 (GRCm39) missense probably benign 0.22
R4222:Spag5 UTSW 11 78,195,337 (GRCm39) missense probably damaging 1.00
R4750:Spag5 UTSW 11 78,210,878 (GRCm39) missense probably benign 0.00
R4771:Spag5 UTSW 11 78,195,592 (GRCm39) missense probably damaging 1.00
R4928:Spag5 UTSW 11 78,205,199 (GRCm39) missense probably damaging 0.97
R5360:Spag5 UTSW 11 78,205,588 (GRCm39) missense probably damaging 0.99
R5366:Spag5 UTSW 11 78,211,152 (GRCm39) splice site probably null
R5618:Spag5 UTSW 11 78,194,906 (GRCm39) missense probably benign 0.00
R5668:Spag5 UTSW 11 78,195,542 (GRCm39) missense possibly damaging 0.53
R5762:Spag5 UTSW 11 78,194,972 (GRCm39) missense probably benign 0.25
R5859:Spag5 UTSW 11 78,204,360 (GRCm39) missense probably benign 0.38
R6564:Spag5 UTSW 11 78,206,401 (GRCm39) missense probably damaging 1.00
R6571:Spag5 UTSW 11 78,212,095 (GRCm39) missense probably damaging 1.00
R6573:Spag5 UTSW 11 78,205,008 (GRCm39) nonsense probably null
R7074:Spag5 UTSW 11 78,195,868 (GRCm39) critical splice donor site probably null
R7091:Spag5 UTSW 11 78,204,017 (GRCm39) critical splice donor site probably null
R7332:Spag5 UTSW 11 78,204,205 (GRCm39) nonsense probably null
R8073:Spag5 UTSW 11 78,192,803 (GRCm39) missense probably benign 0.22
R8709:Spag5 UTSW 11 78,192,738 (GRCm39) missense probably benign
R8723:Spag5 UTSW 11 78,212,215 (GRCm39) missense probably damaging 1.00
R8976:Spag5 UTSW 11 78,195,413 (GRCm39) missense probably benign 0.01
R9053:Spag5 UTSW 11 78,212,575 (GRCm39) missense probably benign 0.14
R9142:Spag5 UTSW 11 78,192,823 (GRCm39) missense possibly damaging 0.56
Z1176:Spag5 UTSW 11 78,205,808 (GRCm39) missense possibly damaging 0.62
Posted On 2015-04-16