Incidental Mutation 'R4222:Spag5'
ID 319413
Institutional Source Beutler Lab
Gene Symbol Spag5
Ensembl Gene ENSMUSG00000002055
Gene Name sperm associated antigen 5
Synonyms s17, Astrin, Mastrin, MAP126, Deepest, D11Bhm180e, S17
MMRRC Submission 041042-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4222 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 78192412-78213283 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 78195337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 215 (V215I)
Ref Sequence ENSEMBL: ENSMUSP00000045286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045026]
AlphaFold Q7TME2
Predicted Effect probably damaging
Transcript: ENSMUST00000045026
AA Change: V215I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045286
Gene: ENSMUSG00000002055
AA Change: V215I

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 noncoding transcript
Transcript: ENSMUST00000133579
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146068
Meta Mutation Damage Score 0.0723 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 91% (49/54)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 A G 17: 56,092,121 (GRCm39) Y127C probably damaging Het
Aif1l A T 2: 31,852,251 (GRCm39) S40C probably damaging Het
Alkal1 A G 1: 6,458,839 (GRCm39) K76R probably damaging Het
Atm T C 9: 53,391,969 (GRCm39) S1807G probably benign Het
Bhmt-ps1 T A 4: 26,369,352 (GRCm39) noncoding transcript Het
Brd10 A T 19: 29,696,149 (GRCm39) S1115T probably benign Het
Cyp3a11 A T 5: 145,797,276 (GRCm39) Y368N probably damaging Het
Gar1 A T 3: 129,624,455 (GRCm39) probably benign Het
Gm5265 A T 1: 169,281,370 (GRCm39) noncoding transcript Het
Gm7964 T G 7: 83,406,030 (GRCm39) N281K probably damaging Het
Grin1 T C 2: 25,187,332 (GRCm39) probably benign Het
H1f5 A T 13: 21,964,147 (GRCm39) probably benign Het
Hapln4 T A 8: 70,539,610 (GRCm39) W214R probably damaging Het
Ift56 A G 6: 38,372,010 (GRCm39) Y200C probably damaging Het
Irgq C A 7: 24,233,050 (GRCm39) A297D possibly damaging Het
Kri1 T C 9: 21,192,359 (GRCm39) E145G probably benign Het
Lama3 T C 18: 12,583,460 (GRCm39) C683R probably damaging Het
Mrpl22 T A 11: 58,062,693 (GRCm39) probably benign Het
Myo7a T A 7: 97,722,436 (GRCm39) Q1163L possibly damaging Het
Nipsnap3a T A 4: 52,997,251 (GRCm39) D172E probably benign Het
Nrxn3 G T 12: 89,499,762 (GRCm39) G718* probably null Het
Olfm3 C T 3: 114,883,820 (GRCm39) Q41* probably null Het
Or52z12 A G 7: 103,233,966 (GRCm39) T246A probably damaging Het
Or8u8 G T 2: 86,012,341 (GRCm39) T38K probably damaging Het
Parm1 G A 5: 91,741,726 (GRCm39) M31I probably benign Het
Phc3 A T 3: 30,990,968 (GRCm39) S383R probably damaging Het
Pkn2 A T 3: 142,499,627 (GRCm39) L950* probably null Het
Plec C T 15: 76,061,519 (GRCm39) R2671H probably damaging Het
Ptbp1 T C 10: 79,695,047 (GRCm39) I125T probably benign Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Ptk7 A T 17: 46,885,389 (GRCm39) M679K probably benign Het
Ptx3 C T 3: 66,132,127 (GRCm39) T216I probably damaging Het
Rrp8 T C 7: 105,383,229 (GRCm39) I346V possibly damaging Het
Rsrc1 A G 3: 66,901,900 (GRCm39) K17E unknown Het
Ryr2 T A 13: 11,752,759 (GRCm39) E1854V possibly damaging Het
Semp2l2a T C 8: 13,888,061 (GRCm39) E10G probably benign Het
Slc25a45 A T 19: 5,930,146 (GRCm39) I39F probably damaging Het
Ston1 A G 17: 88,944,199 (GRCm39) Y535C probably damaging Het
Tbc1d14 A T 5: 36,650,452 (GRCm39) S395T probably benign Het
Tlr11 C T 14: 50,599,306 (GRCm39) P431S probably damaging Het
Trerf1 G T 17: 47,625,727 (GRCm39) noncoding transcript Het
Trim43b T A 9: 88,972,692 (GRCm39) Q154L probably benign Het
Vmn1r49 A G 6: 90,049,228 (GRCm39) F258S probably benign Het
Vmn1r-ps103 C A 13: 22,626,198 (GRCm39) noncoding transcript Het
Vmn2r14 A G 5: 109,364,149 (GRCm39) M589T probably benign Het
Vmn2r60 A T 7: 41,765,952 (GRCm39) T20S probably benign Het
Zbtb5 A G 4: 44,993,855 (GRCm39) probably null Het
Zfp35 T G 18: 24,136,246 (GRCm39) F197V possibly damaging 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
IGL02251:Spag5 APN 11 78,210,860 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCTCACTTAGATACCACAGCAG -3'
(R):5'- GAGACGGCTTCTGCATTTGC -3'

Sequencing Primer
(F):5'- TTAGATACCACAGCAGAGAGAAC -3'
(R):5'- GCAGGTGCTTGGTCTCC -3'
Posted On 2015-06-10