Incidental Mutation 'IGL02658:Spag5'
ID302426
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 #IGL02658
Quality Score
Status
Chromosome11
Chromosomal Location78301529-78322457 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 78321331 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 1062 (Q1062*)
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 null
Transcript: ENSMUST00000045026
AA Change: Q1062*
SMART Domains Protein: ENSMUSP00000045286
Gene: ENSMUSG00000002055
AA Change: Q1062*

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: ENSMUST00000124090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156039
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,952,560 Y946F probably benign Het
Abcb4 T G 5: 8,934,240 W657G probably benign Het
Adcy1 T C 11: 7,138,279 probably benign Het
Arap3 A G 18: 37,990,994 V351A probably benign Het
Bpifb9b A C 2: 154,311,281 Y89S probably benign Het
Carns1 C T 19: 4,173,084 C47Y probably benign Het
Chd5 C T 4: 152,360,593 H344Y probably damaging Het
Ctnna2 T C 6: 76,980,824 T481A probably benign Het
Cyth1 T A 11: 118,182,246 D264V probably damaging Het
Dph1 C A 11: 75,180,635 L311F probably benign Het
Eif3l A G 15: 79,076,942 D65G probably damaging Het
Gtf2a1l T A 17: 88,668,718 F3Y probably benign Het
Hcn4 A T 9: 58,859,465 T770S unknown Het
Hydin A T 8: 110,413,276 I726F possibly damaging Het
Klf2 A G 8: 72,319,096 I7V probably benign Het
Ltn1 A T 16: 87,415,774 L633H probably damaging Het
Ncoa3 A G 2: 166,051,393 D206G probably benign Het
Nlrp4a T G 7: 26,449,713 D248E probably benign Het
Nyap1 A G 5: 137,735,484 I429T probably damaging Het
Olfr1370 G A 13: 21,072,812 T163I probably damaging Het
Olfr285 A G 15: 98,313,356 S65P probably damaging Het
Olfr338 T A 2: 36,377,060 C95S probably damaging Het
Olfr578 A G 7: 102,984,330 M278T probably benign Het
Olfr720 T A 14: 14,175,732 M117L possibly damaging Het
Pcf11 T C 7: 92,647,046 E1322G probably damaging Het
Plcxd2 A T 16: 45,972,326 F217I probably benign Het
Plxna4 A T 6: 32,185,411 I1389N probably damaging Het
Ppp1r15a T C 7: 45,524,667 Y239C probably benign Het
Psma6 A G 12: 55,412,211 E126G probably benign Het
R3hcc1l T A 19: 42,562,702 V46E probably damaging Het
Rap1gds1 G T 3: 138,957,479 H320N probably damaging Het
Sdhaf3 A G 6: 7,038,992 M105V probably damaging Het
Slc22a26 T A 19: 7,788,248 N345I probably benign Het
Sncaip T C 18: 52,894,955 I412T possibly damaging Het
Sorcs1 A T 19: 50,190,092 I864N probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Szrd1 A G 4: 141,139,746 probably benign Het
Tns2 C A 15: 102,107,796 probably benign Het
Trcg1 C A 9: 57,242,228 S361* probably null Het
Tshz3 T C 7: 36,769,158 F191L probably damaging Het
Ttc39a T C 4: 109,422,893 V124A probably damaging Het
Ttf1 T C 2: 29,074,011 I633T probably damaging Het
Zfp691 A G 4: 119,170,507 F176S probably damaging 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
IGL02251:Spag5 APN 11 78320034 missense probably damaging 1.00
IGL02452:Spag5 APN 11 78304623 missense probably benign 0.08
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
R8709:Spag5 UTSW 11 78301912 missense probably benign
R8723:Spag5 UTSW 11 78321389 missense probably damaging 1.00
Z1176:Spag5 UTSW 11 78314982 missense possibly damaging 0.62
Posted On2015-04-16