Incidental Mutation 'R8830:Spag17'
ID 673734
Institutional Source Beutler Lab
Gene Symbol Spag17
Ensembl Gene ENSMUSG00000027867
Gene Name sperm associated antigen 17
Synonyms 4931427F14Rik, PF6
Accession Numbers

Genbank: NM_028892; MGI: 1921612

Essential gene? Non essential (E-score: 0.000) question?
Stock # R8830 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 99885406-100143322 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 100125435 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 2320 (H2320Q)
Ref Sequence ENSEMBL: ENSMUSP00000134066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164539]
AlphaFold Q5S003
Predicted Effect possibly damaging
Transcript: ENSMUST00000164539
AA Change: H2320Q

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134066
Gene: ENSMUSG00000027867
AA Change: H2320Q

DomainStartEndE-ValueType
low complexity region 155 170 N/A INTRINSIC
low complexity region 384 400 N/A INTRINSIC
low complexity region 876 887 N/A INTRINSIC
coiled coil region 909 964 N/A INTRINSIC
coiled coil region 1079 1120 N/A INTRINSIC
low complexity region 1179 1190 N/A INTRINSIC
low complexity region 1192 1205 N/A INTRINSIC
low complexity region 1209 1220 N/A INTRINSIC
low complexity region 1223 1238 N/A INTRINSIC
low complexity region 1394 1405 N/A INTRINSIC
low complexity region 1931 1942 N/A INTRINSIC
Pfam:PapD-like 2171 2277 1.2e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (68/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a central pair protein present in the axonemes of cells with a "9 + 2" organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017]
PHENOTYPE: Homozygous null mice exhibit immotile respiratory cilia with axoneme structural defects, impaired mucociliary clearance, respiratory distress, pulmonary edema, disrupted alveolar epithelium, enlarged brain ventricles consistent with evolving hydrocephalus, failure to suckle, and neonatal lethality. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaed1 G A 13: 64,297,300 (GRCm38) Q170* probably null Het
Abca7 T A 10: 80,008,971 (GRCm38) V1509E probably damaging Het
Abraxas2 A G 7: 132,883,356 (GRCm38) D376G probably damaging Het
Agbl1 A G 7: 76,335,311 (GRCm38) T159A Het
Ahnak2 G A 12: 112,787,036 (GRCm38) R89W Het
Arhgef40 A C 14: 52,003,708 (GRCm38) D1396A probably damaging Het
Atp13a5 A T 16: 29,248,176 (GRCm38) F1060I probably damaging Het
Atp6v1c1 T A 15: 38,677,545 (GRCm38) F105I probably damaging Het
Atp9b C T 18: 80,765,800 (GRCm38) E635K Het
BC017643 C T 11: 121,228,723 (GRCm38) probably benign Het
Brix1 T A 15: 10,479,596 (GRCm38) Q124L possibly damaging Het
Cep68 A G 11: 20,230,418 (GRCm38) probably benign Het
Cfap46 A G 7: 139,615,649 (GRCm38) S2208P unknown Het
Crisp1 T A 17: 40,294,419 (GRCm38) K234* probably null Het
Cryzl1 C T 16: 91,712,204 (GRCm38) V70I probably benign Het
Dnah7b T C 1: 46,191,793 (GRCm38) Y1404H probably damaging Het
Dot1l A G 10: 80,771,199 (GRCm38) H109R possibly damaging Het
E330034G19Rik A C 14: 24,309,508 (GRCm38) H329P unknown Het
Erbb4 A T 1: 68,075,468 (GRCm38) L939Q probably damaging Het
Fst A T 13: 114,455,828 (GRCm38) C118S probably damaging Het
Gfra3 A G 18: 34,711,136 (GRCm38) V117A possibly damaging Het
Gldc C G 19: 30,100,812 (GRCm38) M928I probably benign Het
Gm5538 A T 3: 59,747,323 (GRCm38) T193S probably benign Het
Gm996 T G 2: 25,577,250 (GRCm38) D883A Het
Greb1 A G 12: 16,688,519 (GRCm38) M1481T probably benign Het
Hecw2 G A 1: 53,891,146 (GRCm38) R1045C probably damaging Het
Hexb C T 13: 97,194,254 (GRCm38) V84I probably benign Het
Hpse T C 5: 100,695,586 (GRCm38) E240G probably benign Het
Hspa12a T C 19: 58,805,463 (GRCm38) D322G possibly damaging Het
Hspa9 A T 18: 34,948,104 (GRCm38) probably null Het
Kif9 A G 9: 110,524,930 (GRCm38) K790R probably damaging Het
Klc2 C T 19: 5,110,366 (GRCm38) probably null Het
Ldha C G 7: 46,850,278 (GRCm38) N144K probably benign Het
Micalcl A G 7: 112,381,196 (GRCm38) T126A probably benign Het
Mrpl15 A T 1: 4,782,584 (GRCm38) V137D probably damaging Het
Muc16 G A 9: 18,646,069 (GRCm38) T2976I unknown Het
Mybpc2 A T 7: 44,512,541 (GRCm38) V495D probably damaging Het
Olfr597 A G 7: 103,321,005 (GRCm38) K198R Het
Olfr713 A G 7: 107,036,682 (GRCm38) N176D probably benign Het
Olfr772 A T 10: 129,174,846 (GRCm38) Y58* probably null Het
Pcnt G A 10: 76,382,174 (GRCm38) T2089I probably benign Het
Pdzd7 T C 19: 45,033,073 (GRCm38) D563G probably damaging Het
Phlpp1 T G 1: 106,350,603 (GRCm38) L915R probably damaging Het
Plekhh2 T A 17: 84,521,803 (GRCm38) I34N probably damaging Het
Pou6f2 T A 13: 18,378,498 (GRCm38) T84S Het
Ptprq A G 10: 107,586,695 (GRCm38) V1612A possibly damaging Het
Pvrig T G 5: 138,342,148 (GRCm38) probably benign Het
Rasl10b A T 11: 83,412,676 (GRCm38) I20F probably damaging Het
Rimbp3 T A 16: 17,209,006 (GRCm38) V98E probably damaging Het
Rims2 T C 15: 39,437,362 (GRCm38) I355T possibly damaging Het
Slc1a2 A G 2: 102,736,015 (GRCm38) H30R probably benign Het
Slc28a1 G A 7: 81,161,046 (GRCm38) V389M possibly damaging Het
Slc7a13 T C 4: 19,819,189 (GRCm38) S130P probably benign Het
Sp140 TTTTTTTT TTTTTTTTTTTTT 1: 85,644,574 (GRCm38) probably benign Het
Speer4a T C 5: 26,036,795 (GRCm38) E111G possibly damaging Het
Ss18l1 T C 2: 180,067,338 (GRCm38) Y397H unknown Het
Tbck T C 3: 132,838,057 (GRCm38) S890P probably damaging Het
Tcp11 T C 17: 28,080,230 (GRCm38) E17G probably benign Het
Tesk2 C T 4: 116,802,287 (GRCm38) R315C probably benign Het
Tln1 T C 4: 43,556,383 (GRCm38) N45S probably benign Het
Trim10 C T 17: 36,869,954 (GRCm38) P26S probably damaging Het
Vmac C A 17: 56,715,573 (GRCm38) G146C probably damaging Het
Vmn1r14 G A 6: 57,234,032 (GRCm38) M198I probably damaging Het
Vmn1r194 T C 13: 22,244,836 (GRCm38) Y208H possibly damaging Het
Vmn1r78 G A 7: 12,153,191 (GRCm38) C243Y probably damaging Het
Wasf3 C T 5: 146,466,862 (GRCm38) Q261* probably null Het
Ybx2 A G 11: 69,936,237 (GRCm38) K88R probably benign Het
Zfhx4 G A 3: 5,398,889 (GRCm38) R1394H probably damaging Het
Zfp871 T C 17: 32,774,927 (GRCm38) T425A probably benign Het
Zfy2 C T Y: 2,106,600 (GRCm38) S678N possibly damaging Het
Zswim4 T C 8: 84,223,316 (GRCm38) E650G possibly damaging Het
Other mutations in Spag17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01096:Spag17 APN 3 100,063,375 (GRCm38) missense probably benign 0.00
IGL01143:Spag17 APN 3 99,939,298 (GRCm38) missense probably benign 0.00
IGL01329:Spag17 APN 3 100,095,549 (GRCm38) missense probably benign 0.16
IGL01393:Spag17 APN 3 100,027,610 (GRCm38) missense possibly damaging 0.53
IGL01617:Spag17 APN 3 100,109,508 (GRCm38) missense possibly damaging 0.65
IGL01705:Spag17 APN 3 100,022,730 (GRCm38) missense probably benign 0.01
IGL01928:Spag17 APN 3 99,940,074 (GRCm38) splice site probably benign
IGL01981:Spag17 APN 3 100,058,833 (GRCm38) missense probably benign 0.03
IGL02435:Spag17 APN 3 99,982,444 (GRCm38) missense possibly damaging 0.53
IGL02452:Spag17 APN 3 100,027,391 (GRCm38) missense probably benign 0.00
IGL02465:Spag17 APN 3 100,075,871 (GRCm38) missense probably damaging 0.96
IGL02615:Spag17 APN 3 100,072,085 (GRCm38) missense probably benign 0.09
IGL02751:Spag17 APN 3 100,010,794 (GRCm38) nonsense probably null
IGL02803:Spag17 APN 3 100,109,397 (GRCm38) missense probably benign
IGL02898:Spag17 APN 3 100,101,386 (GRCm38) missense probably benign 0.00
IGL03037:Spag17 APN 3 100,072,170 (GRCm38) splice site probably null
IGL03068:Spag17 APN 3 100,080,205 (GRCm38) missense probably benign 0.35
IGL03131:Spag17 APN 3 100,010,759 (GRCm38) missense possibly damaging 0.85
IGL03224:Spag17 APN 3 100,010,840 (GRCm38) missense possibly damaging 0.53
FR4342:Spag17 UTSW 3 100,056,252 (GRCm38) small insertion probably benign
FR4342:Spag17 UTSW 3 100,056,249 (GRCm38) small insertion probably benign
FR4548:Spag17 UTSW 3 100,056,254 (GRCm38) small insertion probably benign
FR4589:Spag17 UTSW 3 100,056,258 (GRCm38) small insertion probably benign
FR4589:Spag17 UTSW 3 100,056,245 (GRCm38) small insertion probably benign
FR4737:Spag17 UTSW 3 100,056,257 (GRCm38) small insertion probably benign
FR4976:Spag17 UTSW 3 100,056,255 (GRCm38) small insertion probably benign
FR4976:Spag17 UTSW 3 100,056,254 (GRCm38) small insertion probably benign
N/A:Spag17 UTSW 3 99,982,254 (GRCm38) splice site probably benign
PIT4504001:Spag17 UTSW 3 100,103,110 (GRCm38) critical splice acceptor site probably null
PIT4514001:Spag17 UTSW 3 100,013,211 (GRCm38) missense possibly damaging 0.53
R0107:Spag17 UTSW 3 100,050,787 (GRCm38) missense possibly damaging 0.72
R0230:Spag17 UTSW 3 100,106,827 (GRCm38) missense probably benign 0.08
R0243:Spag17 UTSW 3 100,085,368 (GRCm38) missense probably benign 0.04
R0321:Spag17 UTSW 3 100,101,403 (GRCm38) missense probably damaging 0.99
R0375:Spag17 UTSW 3 100,027,590 (GRCm38) missense probably benign
R0417:Spag17 UTSW 3 100,065,554 (GRCm38) missense probably benign 0.11
R0490:Spag17 UTSW 3 99,982,411 (GRCm38) missense probably damaging 0.97
R0537:Spag17 UTSW 3 100,125,302 (GRCm38) missense probably damaging 0.98
R0714:Spag17 UTSW 3 100,080,156 (GRCm38) missense probably damaging 0.97
R0844:Spag17 UTSW 3 100,004,785 (GRCm38) missense probably benign
R0919:Spag17 UTSW 3 100,071,943 (GRCm38) splice site probably benign
R0926:Spag17 UTSW 3 100,072,116 (GRCm38) missense probably benign
R1037:Spag17 UTSW 3 100,103,117 (GRCm38) missense probably benign 0.01
R1075:Spag17 UTSW 3 100,093,676 (GRCm38) missense probably damaging 0.99
R1109:Spag17 UTSW 3 100,027,351 (GRCm38) missense possibly damaging 0.86
R1213:Spag17 UTSW 3 100,095,638 (GRCm38) missense probably benign 0.01
R1221:Spag17 UTSW 3 99,982,268 (GRCm38) missense possibly damaging 0.72
R1576:Spag17 UTSW 3 99,939,363 (GRCm38) missense possibly damaging 0.73
R1586:Spag17 UTSW 3 100,021,752 (GRCm38) missense possibly damaging 0.53
R1768:Spag17 UTSW 3 100,027,352 (GRCm38) missense possibly damaging 0.53
R1782:Spag17 UTSW 3 100,010,754 (GRCm38) missense probably benign 0.02
R1789:Spag17 UTSW 3 99,939,356 (GRCm38) missense possibly damaging 0.73
R1945:Spag17 UTSW 3 99,939,982 (GRCm38) missense probably benign
R2065:Spag17 UTSW 3 100,013,208 (GRCm38) missense probably benign 0.03
R2118:Spag17 UTSW 3 100,049,240 (GRCm38) missense possibly damaging 0.72
R2265:Spag17 UTSW 3 100,061,866 (GRCm38) splice site probably null
R2266:Spag17 UTSW 3 100,061,866 (GRCm38) splice site probably null
R2267:Spag17 UTSW 3 100,061,866 (GRCm38) splice site probably null
R2268:Spag17 UTSW 3 100,061,866 (GRCm38) splice site probably null
R2271:Spag17 UTSW 3 100,106,797 (GRCm38) missense probably damaging 1.00
R2389:Spag17 UTSW 3 100,106,837 (GRCm38) missense probably benign 0.27
R2420:Spag17 UTSW 3 100,027,619 (GRCm38) missense probably benign
R2422:Spag17 UTSW 3 100,027,619 (GRCm38) missense probably benign
R2423:Spag17 UTSW 3 100,103,456 (GRCm38) missense probably benign
R3407:Spag17 UTSW 3 100,085,299 (GRCm38) missense probably benign 0.09
R3801:Spag17 UTSW 3 100,053,853 (GRCm38) missense possibly damaging 0.53
R3856:Spag17 UTSW 3 100,106,759 (GRCm38) missense probably damaging 1.00
R4021:Spag17 UTSW 3 100,049,230 (GRCm38) missense probably benign 0.00
R4022:Spag17 UTSW 3 100,049,230 (GRCm38) missense probably benign 0.00
R4408:Spag17 UTSW 3 100,103,378 (GRCm38) missense probably benign
R4468:Spag17 UTSW 3 100,085,366 (GRCm38) missense probably damaging 0.98
R4540:Spag17 UTSW 3 100,088,381 (GRCm38) missense probably damaging 1.00
R4621:Spag17 UTSW 3 100,103,243 (GRCm38) missense probably benign 0.08
R4622:Spag17 UTSW 3 100,103,243 (GRCm38) missense probably benign 0.08
R4756:Spag17 UTSW 3 100,103,385 (GRCm38) missense possibly damaging 0.68
R4797:Spag17 UTSW 3 99,984,479 (GRCm38) missense possibly damaging 0.70
R4855:Spag17 UTSW 3 100,063,333 (GRCm38) missense probably benign 0.02
R4887:Spag17 UTSW 3 100,050,831 (GRCm38) missense probably damaging 1.00
R4962:Spag17 UTSW 3 100,027,623 (GRCm38) missense probably benign
R5030:Spag17 UTSW 3 100,085,341 (GRCm38) nonsense probably null
R5042:Spag17 UTSW 3 100,072,149 (GRCm38) missense probably damaging 1.00
R5074:Spag17 UTSW 3 100,080,118 (GRCm38) missense possibly damaging 0.94
R5195:Spag17 UTSW 3 100,101,388 (GRCm38) missense probably benign 0.16
R5200:Spag17 UTSW 3 100,063,471 (GRCm38) nonsense probably null
R5267:Spag17 UTSW 3 100,061,948 (GRCm38) missense probably damaging 0.98
R5360:Spag17 UTSW 3 100,109,410 (GRCm38) missense probably benign 0.00
R5444:Spag17 UTSW 3 100,056,152 (GRCm38) missense probably benign 0.06
R5498:Spag17 UTSW 3 100,103,345 (GRCm38) missense possibly damaging 0.83
R5503:Spag17 UTSW 3 100,027,244 (GRCm38) missense possibly damaging 0.72
R5540:Spag17 UTSW 3 100,056,272 (GRCm38) missense possibly damaging 0.91
R5547:Spag17 UTSW 3 100,056,152 (GRCm38) missense probably benign 0.06
R5575:Spag17 UTSW 3 100,053,822 (GRCm38) missense possibly damaging 0.85
R5629:Spag17 UTSW 3 100,080,119 (GRCm38) missense probably benign 0.33
R5639:Spag17 UTSW 3 100,056,166 (GRCm38) missense probably damaging 1.00
R5842:Spag17 UTSW 3 99,939,250 (GRCm38) missense possibly damaging 0.85
R5976:Spag17 UTSW 3 100,095,791 (GRCm38) nonsense probably null
R6082:Spag17 UTSW 3 100,124,185 (GRCm38) missense possibly damaging 0.46
R6228:Spag17 UTSW 3 100,022,602 (GRCm38) missense probably benign 0.33
R6254:Spag17 UTSW 3 100,065,585 (GRCm38) missense probably benign 0.03
R6321:Spag17 UTSW 3 100,088,427 (GRCm38) missense probably benign 0.05
R6446:Spag17 UTSW 3 100,103,132 (GRCm38) missense probably benign
R6687:Spag17 UTSW 3 100,092,950 (GRCm38) missense probably benign 0.07
R6853:Spag17 UTSW 3 100,013,235 (GRCm38) missense possibly damaging 0.86
R6946:Spag17 UTSW 3 100,004,683 (GRCm38) missense possibly damaging 0.53
R6953:Spag17 UTSW 3 100,034,975 (GRCm38) missense possibly damaging 0.53
R7038:Spag17 UTSW 3 99,984,609 (GRCm38) missense probably benign 0.00
R7084:Spag17 UTSW 3 99,939,270 (GRCm38) missense probably benign 0.18
R7126:Spag17 UTSW 3 100,101,435 (GRCm38) missense probably benign 0.00
R7144:Spag17 UTSW 3 100,027,401 (GRCm38) splice site probably null
R7198:Spag17 UTSW 3 100,095,572 (GRCm38) missense probably benign 0.02
R7318:Spag17 UTSW 3 99,939,983 (GRCm38) missense probably benign 0.00
R7403:Spag17 UTSW 3 99,939,375 (GRCm38) missense possibly damaging 0.53
R7409:Spag17 UTSW 3 100,034,159 (GRCm38) missense probably benign 0.00
R7409:Spag17 UTSW 3 100,027,231 (GRCm38) missense possibly damaging 0.73
R7537:Spag17 UTSW 3 99,939,247 (GRCm38) missense possibly damaging 0.96
R7609:Spag17 UTSW 3 100,095,595 (GRCm38) nonsense probably null
R7772:Spag17 UTSW 3 100,080,118 (GRCm38) missense probably damaging 0.98
R7842:Spag17 UTSW 3 100,053,858 (GRCm38) missense probably benign 0.18
R7963:Spag17 UTSW 3 100,022,638 (GRCm38) missense probably benign 0.02
R8168:Spag17 UTSW 3 100,034,984 (GRCm38) missense possibly damaging 0.96
R8291:Spag17 UTSW 3 100,060,850 (GRCm38) missense probably benign
R8347:Spag17 UTSW 3 100,027,641 (GRCm38) missense probably benign
R8383:Spag17 UTSW 3 100,085,392 (GRCm38) missense probably damaging 0.98
R8474:Spag17 UTSW 3 100,027,270 (GRCm38) missense probably benign 0.00
R8528:Spag17 UTSW 3 100,124,185 (GRCm38) missense possibly damaging 0.46
R8804:Spag17 UTSW 3 99,967,190 (GRCm38) missense probably benign
R8809:Spag17 UTSW 3 99,982,422 (GRCm38) missense probably benign 0.33
R8818:Spag17 UTSW 3 100,013,227 (GRCm38) missense probably benign 0.02
R8890:Spag17 UTSW 3 100,004,678 (GRCm38) missense possibly damaging 0.73
R9008:Spag17 UTSW 3 100,027,626 (GRCm38) missense possibly damaging 0.73
R9095:Spag17 UTSW 3 100,004,776 (GRCm38) missense possibly damaging 0.86
R9143:Spag17 UTSW 3 100,027,590 (GRCm38) missense probably benign
R9182:Spag17 UTSW 3 100,058,842 (GRCm38) missense possibly damaging 0.92
R9211:Spag17 UTSW 3 100,125,298 (GRCm38) critical splice acceptor site probably benign
R9344:Spag17 UTSW 3 100,103,477 (GRCm38) missense probably benign 0.01
R9354:Spag17 UTSW 3 100,027,589 (GRCm38) missense probably benign
R9527:Spag17 UTSW 3 100,063,461 (GRCm38) missense probably damaging 1.00
R9658:Spag17 UTSW 3 100,027,616 (GRCm38) missense possibly damaging 0.93
R9738:Spag17 UTSW 3 100,027,210 (GRCm38) missense possibly damaging 0.53
X0025:Spag17 UTSW 3 100,101,451 (GRCm38) missense probably benign 0.31
Z1088:Spag17 UTSW 3 100,095,630 (GRCm38) missense probably benign 0.09
Z1176:Spag17 UTSW 3 100,012,993 (GRCm38) missense probably benign 0.18
Z1177:Spag17 UTSW 3 100,088,399 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTAATGCTGCTGGAGACTCTG -3'
(R):5'- ATTGGACACGCAGACTTTGTG -3'

Sequencing Primer
(F):5'- CTGCTGGAGACTCTGATTTTAAAATG -3'
(R):5'- AGACTTTGTGTGCCCCGGTAC -3'
Posted On 2021-07-15