Incidental Mutation 'IGL02251:Spag5'
ID286385
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spag5
Ensembl Gene ENSMUSG00000002055
Gene Namesperm associated antigen 5
SynonymsD11Bhm180e, Astrin, MAP126, Deepest, Mastrin, S17, s17
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02251
Quality Score
Status
Chromosome11
Chromosomal Location78301529-78322457 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 78320034 bp
ZygosityHeterozygous
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]
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: ENSMUST00000133579
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150016
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: 45,977,416 C1406R probably damaging Het
Acp2 T A 2: 91,208,333 probably null Het
Antxr2 A C 5: 97,977,595 probably null Het
Arhgef11 C T 3: 87,683,547 R32C probably damaging Het
Armc6 A T 8: 70,225,220 L153* probably null Het
Btnl2 G T 17: 34,363,239 G260* probably null Het
Ccnf A G 17: 24,226,539 S551P probably benign Het
Cdh19 A G 1: 110,954,652 S37P probably benign Het
Cntnap3 T A 13: 64,762,036 T752S probably damaging Het
Crispld1 A G 1: 17,728,840 M62V probably benign Het
Ddr1 G A 17: 35,683,480 A801V probably damaging Het
Dner G T 1: 84,384,026 Q621K probably damaging Het
Dph6 A G 2: 114,535,523 probably null Het
Dpp3 T G 19: 4,918,315 H243P probably benign Het
Eif3j2 T A 18: 43,477,366 K127N probably damaging Het
Esrp1 G A 4: 11,361,202 R315C probably damaging Het
Fam35a T C 14: 34,268,278 R224G probably benign Het
Gm973 A C 1: 59,582,423 H574P probably benign Het
Gprasp1 G A X: 135,800,539 V494I probably benign Het
Hbb-bh1 T A 7: 103,842,810 K66* probably null Het
Hoxb9 T A 11: 96,274,825 M240K probably damaging Het
Irf2 T C 8: 46,807,753 probably null Het
Lgi4 A G 7: 31,067,263 probably null Het
Mylk3 C T 8: 85,355,176 V328M probably benign Het
Nf2 T C 11: 4,848,873 E38G probably null Het
Olfr1286 A C 2: 111,420,312 L213R probably damaging Het
Olfr606 A T 7: 103,451,771 K145* probably null Het
Pdpk1 A G 17: 24,079,638 F346L probably damaging Het
Prex1 T C 2: 166,577,886 Y1120C probably damaging Het
Rab3gap1 A G 1: 127,937,500 T742A probably benign Het
Scai A T 2: 39,099,417 D401E probably benign Het
Scd1 T C 19: 44,398,094 H298R probably damaging Het
Slc45a1 A G 4: 150,638,719 probably benign Het
Smim10l1 G T 6: 133,105,508 R6L probably damaging Het
Sun1 T C 5: 139,241,431 S667P probably damaging Het
Tas2r124 A G 6: 132,755,561 I278V probably benign Het
Thbs1 G A 2: 118,113,518 D206N probably benign Het
Trim37 T A 11: 87,167,430 probably benign Het
Vcp T C 4: 42,988,728 T249A possibly damaging Het
Vmn2r103 A G 17: 19,793,969 N341S possibly damaging Het
Zmat3 A G 3: 32,345,583 probably benign Het
Other mutations in Spag5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01380:Spag5 APN 11 78304617 missense possibly damaging 0.62
IGL01820:Spag5 APN 11 78304259 missense probably benign 0.06
IGL02066:Spag5 APN 11 78304532 missense probably benign
IGL02140:Spag5 APN 11 78315633 missense possibly damaging 0.62
IGL02452:Spag5 APN 11 78304623 missense probably benign 0.08
IGL02658:Spag5 APN 11 78321331 nonsense probably null
boyardee UTSW 11 78313191 critical splice donor site probably null
Franco UTSW 11 78314182 nonsense probably null
spaghetto UTSW 11 78313379 nonsense probably null
IGL02991:Spag5 UTSW 11 78314251 missense probably damaging 0.99
R0477:Spag5 UTSW 11 78314198 missense probably damaging 1.00
R0512:Spag5 UTSW 11 78319586 unclassified probably benign
R0535:Spag5 UTSW 11 78304728 missense probably benign 0.00
R0557:Spag5 UTSW 11 78314211 missense probably damaging 0.99
R0584:Spag5 UTSW 11 78304095 missense possibly damaging 0.49
R0666:Spag5 UTSW 11 78313396 missense probably damaging 1.00
R0723:Spag5 UTSW 11 78319584 unclassified probably benign
R1413:Spag5 UTSW 11 78305317 nonsense probably null
R1680:Spag5 UTSW 11 78320616 missense probably damaging 1.00
R1687:Spag5 UTSW 11 78304929 missense probably benign 0.32
R1696:Spag5 UTSW 11 78321326 missense probably damaging 1.00
R1831:Spag5 UTSW 11 78314256 missense probably benign 0.08
R1866:Spag5 UTSW 11 78304455 missense possibly damaging 0.62
R1918:Spag5 UTSW 11 78304176 missense probably benign 0.01
R4004:Spag5 UTSW 11 78321529 missense probably benign 0.22
R4005:Spag5 UTSW 11 78321529 missense probably benign 0.22
R4222:Spag5 UTSW 11 78304511 missense probably damaging 1.00
R4750:Spag5 UTSW 11 78320052 missense probably benign 0.00
R4771:Spag5 UTSW 11 78304766 missense probably damaging 1.00
R4928:Spag5 UTSW 11 78314373 missense probably damaging 0.97
R5360:Spag5 UTSW 11 78314762 missense probably damaging 0.99
R5366:Spag5 UTSW 11 78320326 splice site probably null
R5618:Spag5 UTSW 11 78304080 missense probably benign 0.00
R5668:Spag5 UTSW 11 78304716 missense possibly damaging 0.53
R5762:Spag5 UTSW 11 78304146 missense probably benign 0.25
R5859:Spag5 UTSW 11 78313534 missense probably benign 0.38
R6564:Spag5 UTSW 11 78315575 missense probably damaging 1.00
R6571:Spag5 UTSW 11 78321269 missense probably damaging 1.00
R6573:Spag5 UTSW 11 78314182 nonsense probably null
R7074:Spag5 UTSW 11 78305042 critical splice donor site probably null
R7091:Spag5 UTSW 11 78313191 critical splice donor site probably null
R7332:Spag5 UTSW 11 78313379 nonsense probably null
R8073:Spag5 UTSW 11 78301977 missense probably benign 0.22
Z1176:Spag5 UTSW 11 78314982 missense possibly damaging 0.62
Posted On2015-04-16