Incidental Mutation 'R7403:Spag17'
ID 574325
Institutional Source Beutler Lab
Gene Symbol Spag17
Ensembl Gene ENSMUSG00000027867
Gene Name sperm associated antigen 17
Synonyms PF6, 4931427F14Rik
MMRRC Submission 045485-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7403 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 99792722-100050638 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99846691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 72 (I72F)
Ref Sequence ENSEMBL: ENSMUSP00000134066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164539]
AlphaFold Q5S003
Predicted Effect possibly damaging
Transcript: ENSMUST00000164539
AA Change: I72F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134066
Gene: ENSMUSG00000027867
AA Change: I72F

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: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Appl2 G A 10: 83,450,059 (GRCm39) A271V probably benign Het
Brpf3 C T 17: 29,040,330 (GRCm39) T917I probably benign Het
Camta1 G A 4: 151,537,752 (GRCm39) Q143* probably null Het
Cd3e C A 9: 44,913,590 (GRCm39) E48D probably benign Het
Clca3b A G 3: 144,529,259 (GRCm39) L805P probably benign Het
Crispld1 A G 1: 17,817,820 (GRCm39) Y241C probably damaging Het
Ddx43 T G 9: 78,321,133 (GRCm39) N380K probably damaging Het
Dtl A T 1: 191,295,285 (GRCm39) V155E probably damaging Het
Eif1ad19 G T 12: 87,740,314 (GRCm39) Q82K probably benign Het
Elp1 A T 4: 56,778,994 (GRCm39) C608S probably damaging Het
Elp2 A G 18: 24,752,542 (GRCm39) H365R probably damaging Het
Fam78a T C 2: 31,959,627 (GRCm39) N161S probably damaging Het
Far2 T C 6: 148,060,475 (GRCm39) I276T possibly damaging Het
Frem3 T C 8: 81,342,774 (GRCm39) L1689P probably damaging Het
Gak T C 5: 108,761,401 (GRCm39) K210R probably benign Het
Gna14 G T 19: 16,576,445 (GRCm39) D151Y Het
Hdhd2 A G 18: 77,042,736 (GRCm39) D55G probably benign Het
Hycc2 A T 1: 58,587,861 (GRCm39) D117E possibly damaging Het
Ifna5 A G 4: 88,754,110 (GRCm39) N117D probably benign Het
Il16 T A 7: 83,319,343 (GRCm39) T383S probably damaging Het
Il36rn T C 2: 24,171,214 (GRCm39) F101L probably damaging Het
Ino80d A G 1: 63,101,378 (GRCm39) V416A possibly damaging Het
Ints6 T C 14: 62,945,104 (GRCm39) R409G possibly damaging Het
Itgb5 G T 16: 33,723,163 (GRCm39) probably null Het
Itprid1 T A 6: 55,953,399 (GRCm39) L905* probably null Het
Kcnq3 T A 15: 65,874,066 (GRCm39) R561W probably damaging Het
Lipo4 C T 19: 33,480,679 (GRCm39) E230K possibly damaging Het
Lrrc7 A T 3: 157,854,311 (GRCm39) L1299* probably null Het
Mcm3ap T C 10: 76,318,657 (GRCm39) probably null Het
Mok A T 12: 110,781,563 (GRCm39) probably null Het
Mylk2 T A 2: 152,759,261 (GRCm39) V344E probably damaging Het
Oacyl T C 18: 65,870,966 (GRCm39) V389A probably benign Het
Oplah T C 15: 76,189,209 (GRCm39) D278G probably benign Het
Or1j8 T C 2: 36,192,342 (GRCm39) F264L probably benign Het
Or8s5 T C 15: 98,238,000 (GRCm39) Y290C probably damaging Het
Padi3 T C 4: 140,527,430 (GRCm39) N124D probably benign Het
Parp3 T C 9: 106,352,052 (GRCm39) S107G probably benign Het
Pcdhb18 G A 18: 37,624,950 (GRCm39) G760D probably benign Het
Plekhh1 G A 12: 79,087,351 (GRCm39) W13* probably null Het
Poglut3 T A 9: 53,301,741 (GRCm39) V131E probably damaging Het
Pou2f1 C T 1: 165,738,955 (GRCm39) A166T unknown Het
Ppp1r10 C T 17: 36,240,326 (GRCm39) P539S probably benign Het
Prdm11 T C 2: 92,817,036 (GRCm39) T310A probably benign Het
Rbm25 A G 12: 83,722,908 (GRCm39) Y777C probably damaging Het
Relt A T 7: 100,500,655 (GRCm39) C72S probably damaging Het
Rhag T A 17: 41,145,549 (GRCm39) I334N probably damaging Het
Rhbdf2 A C 11: 116,491,245 (GRCm39) L630R probably damaging Het
Rnps1 T C 17: 24,644,061 (GRCm39) S274P unknown Het
Rtkn2 A G 10: 67,841,466 (GRCm39) I205V probably benign Het
Ryr1 A T 7: 28,713,292 (GRCm39) V4690E probably benign Het
Secisbp2l T C 2: 125,602,199 (GRCm39) Y387C possibly damaging Het
Sema3d A T 5: 12,547,551 (GRCm39) I158F probably damaging Het
Slc17a1 A G 13: 24,058,690 (GRCm39) N48S probably benign Het
Slc2a1 G A 4: 118,989,752 (GRCm39) G130S probably damaging Het
Slc6a3 T C 13: 73,710,546 (GRCm39) probably null Het
Snx27 A T 3: 94,436,233 (GRCm39) S261T probably damaging Het
Spink6 T G 18: 44,204,564 (GRCm39) L10R unknown Het
Swt1 G A 1: 151,264,444 (GRCm39) T690I probably benign Het
Syne2 G A 12: 75,962,020 (GRCm39) E729K not run Het
Synj2 C T 17: 6,088,005 (GRCm39) T1352M possibly damaging Het
Taar4 G A 10: 23,836,957 (GRCm39) G189D probably damaging Het
Thsd4 T C 9: 59,964,170 (GRCm39) N441D probably damaging Het
Tm9sf2 A G 14: 122,378,640 (GRCm39) D248G probably benign Het
Tmem69 A T 4: 116,410,664 (GRCm39) L102Q probably damaging Het
Tshr A G 12: 91,464,548 (GRCm39) Y98C probably damaging Het
Tspan1 A G 4: 116,020,219 (GRCm39) V230A probably benign Het
Upk3a T C 15: 84,903,709 (GRCm39) V136A possibly damaging Het
Ush2a T A 1: 188,365,924 (GRCm39) N2259K probably damaging Het
Usp24 A G 4: 106,264,232 (GRCm39) D1721G possibly damaging Het
Vldlr T A 19: 27,213,674 (GRCm39) C120* probably null Het
Vmn2r23 A T 6: 123,681,538 (GRCm39) I149L probably benign Het
Vps8 A T 16: 21,253,722 (GRCm39) E21V possibly damaging Het
Wdr35 A G 12: 9,062,685 (GRCm39) I635V probably damaging Het
Zfp955a T C 17: 33,462,720 (GRCm39) D58G probably benign Het
Zkscan5 A G 5: 145,155,403 (GRCm39) Q358R probably benign Het
Other mutations in Spag17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01096:Spag17 APN 3 99,970,691 (GRCm39) missense probably benign 0.00
IGL01143:Spag17 APN 3 99,846,614 (GRCm39) missense probably benign 0.00
IGL01329:Spag17 APN 3 100,002,865 (GRCm39) missense probably benign 0.16
IGL01393:Spag17 APN 3 99,934,926 (GRCm39) missense possibly damaging 0.53
IGL01617:Spag17 APN 3 100,016,824 (GRCm39) missense possibly damaging 0.65
IGL01705:Spag17 APN 3 99,930,046 (GRCm39) missense probably benign 0.01
IGL01928:Spag17 APN 3 99,847,390 (GRCm39) splice site probably benign
IGL01981:Spag17 APN 3 99,966,149 (GRCm39) missense probably benign 0.03
IGL02435:Spag17 APN 3 99,889,760 (GRCm39) missense possibly damaging 0.53
IGL02452:Spag17 APN 3 99,934,707 (GRCm39) missense probably benign 0.00
IGL02465:Spag17 APN 3 99,983,187 (GRCm39) missense probably damaging 0.96
IGL02615:Spag17 APN 3 99,979,401 (GRCm39) missense probably benign 0.09
IGL02751:Spag17 APN 3 99,918,110 (GRCm39) nonsense probably null
IGL02803:Spag17 APN 3 100,016,713 (GRCm39) missense probably benign
IGL02898:Spag17 APN 3 100,008,702 (GRCm39) missense probably benign 0.00
IGL03037:Spag17 APN 3 99,979,486 (GRCm39) splice site probably null
IGL03068:Spag17 APN 3 99,987,521 (GRCm39) missense probably benign 0.35
IGL03131:Spag17 APN 3 99,918,075 (GRCm39) missense possibly damaging 0.85
IGL03224:Spag17 APN 3 99,918,156 (GRCm39) missense possibly damaging 0.53
FR4342:Spag17 UTSW 3 99,963,568 (GRCm39) small insertion probably benign
FR4342:Spag17 UTSW 3 99,963,565 (GRCm39) small insertion probably benign
FR4548:Spag17 UTSW 3 99,963,570 (GRCm39) small insertion probably benign
FR4589:Spag17 UTSW 3 99,963,574 (GRCm39) small insertion probably benign
FR4589:Spag17 UTSW 3 99,963,561 (GRCm39) small insertion probably benign
FR4737:Spag17 UTSW 3 99,963,573 (GRCm39) small insertion probably benign
FR4976:Spag17 UTSW 3 99,963,571 (GRCm39) small insertion probably benign
FR4976:Spag17 UTSW 3 99,963,570 (GRCm39) small insertion probably benign
N/A:Spag17 UTSW 3 99,889,570 (GRCm39) splice site probably benign
PIT4504001:Spag17 UTSW 3 100,010,426 (GRCm39) critical splice acceptor site probably null
PIT4514001:Spag17 UTSW 3 99,920,527 (GRCm39) missense possibly damaging 0.53
R0107:Spag17 UTSW 3 99,958,103 (GRCm39) missense possibly damaging 0.72
R0230:Spag17 UTSW 3 100,014,143 (GRCm39) missense probably benign 0.08
R0243:Spag17 UTSW 3 99,992,684 (GRCm39) missense probably benign 0.04
R0321:Spag17 UTSW 3 100,008,719 (GRCm39) missense probably damaging 0.99
R0375:Spag17 UTSW 3 99,934,906 (GRCm39) missense probably benign
R0417:Spag17 UTSW 3 99,972,870 (GRCm39) missense probably benign 0.11
R0490:Spag17 UTSW 3 99,889,727 (GRCm39) missense probably damaging 0.97
R0537:Spag17 UTSW 3 100,032,618 (GRCm39) missense probably damaging 0.98
R0714:Spag17 UTSW 3 99,987,472 (GRCm39) missense probably damaging 0.97
R0844:Spag17 UTSW 3 99,912,101 (GRCm39) missense probably benign
R0919:Spag17 UTSW 3 99,979,259 (GRCm39) splice site probably benign
R0926:Spag17 UTSW 3 99,979,432 (GRCm39) missense probably benign
R1037:Spag17 UTSW 3 100,010,433 (GRCm39) missense probably benign 0.01
R1075:Spag17 UTSW 3 100,000,992 (GRCm39) missense probably damaging 0.99
R1109:Spag17 UTSW 3 99,934,667 (GRCm39) missense possibly damaging 0.86
R1213:Spag17 UTSW 3 100,002,954 (GRCm39) missense probably benign 0.01
R1221:Spag17 UTSW 3 99,889,584 (GRCm39) missense possibly damaging 0.72
R1576:Spag17 UTSW 3 99,846,679 (GRCm39) missense possibly damaging 0.73
R1586:Spag17 UTSW 3 99,929,068 (GRCm39) missense possibly damaging 0.53
R1768:Spag17 UTSW 3 99,934,668 (GRCm39) missense possibly damaging 0.53
R1782:Spag17 UTSW 3 99,918,070 (GRCm39) missense probably benign 0.02
R1789:Spag17 UTSW 3 99,846,672 (GRCm39) missense possibly damaging 0.73
R1945:Spag17 UTSW 3 99,847,298 (GRCm39) missense probably benign
R2065:Spag17 UTSW 3 99,920,524 (GRCm39) missense probably benign 0.03
R2118:Spag17 UTSW 3 99,956,556 (GRCm39) missense possibly damaging 0.72
R2265:Spag17 UTSW 3 99,969,182 (GRCm39) splice site probably null
R2266:Spag17 UTSW 3 99,969,182 (GRCm39) splice site probably null
R2267:Spag17 UTSW 3 99,969,182 (GRCm39) splice site probably null
R2268:Spag17 UTSW 3 99,969,182 (GRCm39) splice site probably null
R2271:Spag17 UTSW 3 100,014,113 (GRCm39) missense probably damaging 1.00
R2389:Spag17 UTSW 3 100,014,153 (GRCm39) missense probably benign 0.27
R2420:Spag17 UTSW 3 99,934,935 (GRCm39) missense probably benign
R2422:Spag17 UTSW 3 99,934,935 (GRCm39) missense probably benign
R2423:Spag17 UTSW 3 100,010,772 (GRCm39) missense probably benign
R3407:Spag17 UTSW 3 99,992,615 (GRCm39) missense probably benign 0.09
R3801:Spag17 UTSW 3 99,961,169 (GRCm39) missense possibly damaging 0.53
R3856:Spag17 UTSW 3 100,014,075 (GRCm39) missense probably damaging 1.00
R4021:Spag17 UTSW 3 99,956,546 (GRCm39) missense probably benign 0.00
R4022:Spag17 UTSW 3 99,956,546 (GRCm39) missense probably benign 0.00
R4408:Spag17 UTSW 3 100,010,694 (GRCm39) missense probably benign
R4468:Spag17 UTSW 3 99,992,682 (GRCm39) missense probably damaging 0.98
R4540:Spag17 UTSW 3 99,995,697 (GRCm39) missense probably damaging 1.00
R4621:Spag17 UTSW 3 100,010,559 (GRCm39) missense probably benign 0.08
R4622:Spag17 UTSW 3 100,010,559 (GRCm39) missense probably benign 0.08
R4756:Spag17 UTSW 3 100,010,701 (GRCm39) missense possibly damaging 0.68
R4797:Spag17 UTSW 3 99,891,795 (GRCm39) missense possibly damaging 0.70
R4855:Spag17 UTSW 3 99,970,649 (GRCm39) missense probably benign 0.02
R4887:Spag17 UTSW 3 99,958,147 (GRCm39) missense probably damaging 1.00
R4962:Spag17 UTSW 3 99,934,939 (GRCm39) missense probably benign
R5030:Spag17 UTSW 3 99,992,657 (GRCm39) nonsense probably null
R5042:Spag17 UTSW 3 99,979,465 (GRCm39) missense probably damaging 1.00
R5074:Spag17 UTSW 3 99,987,434 (GRCm39) missense possibly damaging 0.94
R5195:Spag17 UTSW 3 100,008,704 (GRCm39) missense probably benign 0.16
R5200:Spag17 UTSW 3 99,970,787 (GRCm39) nonsense probably null
R5267:Spag17 UTSW 3 99,969,264 (GRCm39) missense probably damaging 0.98
R5360:Spag17 UTSW 3 100,016,726 (GRCm39) missense probably benign 0.00
R5444:Spag17 UTSW 3 99,963,468 (GRCm39) missense probably benign 0.06
R5498:Spag17 UTSW 3 100,010,661 (GRCm39) missense possibly damaging 0.83
R5503:Spag17 UTSW 3 99,934,560 (GRCm39) missense possibly damaging 0.72
R5540:Spag17 UTSW 3 99,963,588 (GRCm39) missense possibly damaging 0.91
R5547:Spag17 UTSW 3 99,963,468 (GRCm39) missense probably benign 0.06
R5575:Spag17 UTSW 3 99,961,138 (GRCm39) missense possibly damaging 0.85
R5629:Spag17 UTSW 3 99,987,435 (GRCm39) missense probably benign 0.33
R5639:Spag17 UTSW 3 99,963,482 (GRCm39) missense probably damaging 1.00
R5842:Spag17 UTSW 3 99,846,566 (GRCm39) missense possibly damaging 0.85
R5976:Spag17 UTSW 3 100,003,107 (GRCm39) nonsense probably null
R6082:Spag17 UTSW 3 100,031,501 (GRCm39) missense possibly damaging 0.46
R6228:Spag17 UTSW 3 99,929,918 (GRCm39) missense probably benign 0.33
R6254:Spag17 UTSW 3 99,972,901 (GRCm39) missense probably benign 0.03
R6321:Spag17 UTSW 3 99,995,743 (GRCm39) missense probably benign 0.05
R6446:Spag17 UTSW 3 100,010,448 (GRCm39) missense probably benign
R6687:Spag17 UTSW 3 100,000,266 (GRCm39) missense probably benign 0.07
R6853:Spag17 UTSW 3 99,920,551 (GRCm39) missense possibly damaging 0.86
R6946:Spag17 UTSW 3 99,911,999 (GRCm39) missense possibly damaging 0.53
R6953:Spag17 UTSW 3 99,942,291 (GRCm39) missense possibly damaging 0.53
R7038:Spag17 UTSW 3 99,891,925 (GRCm39) missense probably benign 0.00
R7084:Spag17 UTSW 3 99,846,586 (GRCm39) missense probably benign 0.18
R7126:Spag17 UTSW 3 100,008,751 (GRCm39) missense probably benign 0.00
R7144:Spag17 UTSW 3 99,934,717 (GRCm39) splice site probably null
R7198:Spag17 UTSW 3 100,002,888 (GRCm39) missense probably benign 0.02
R7318:Spag17 UTSW 3 99,847,299 (GRCm39) missense probably benign 0.00
R7409:Spag17 UTSW 3 99,934,547 (GRCm39) missense possibly damaging 0.73
R7409:Spag17 UTSW 3 99,941,475 (GRCm39) missense probably benign 0.00
R7537:Spag17 UTSW 3 99,846,563 (GRCm39) missense possibly damaging 0.96
R7609:Spag17 UTSW 3 100,002,911 (GRCm39) nonsense probably null
R7772:Spag17 UTSW 3 99,987,434 (GRCm39) missense probably damaging 0.98
R7842:Spag17 UTSW 3 99,961,174 (GRCm39) missense probably benign 0.18
R7963:Spag17 UTSW 3 99,929,954 (GRCm39) missense probably benign 0.02
R8168:Spag17 UTSW 3 99,942,300 (GRCm39) missense possibly damaging 0.96
R8291:Spag17 UTSW 3 99,968,166 (GRCm39) missense probably benign
R8347:Spag17 UTSW 3 99,934,957 (GRCm39) missense probably benign
R8383:Spag17 UTSW 3 99,992,708 (GRCm39) missense probably damaging 0.98
R8474:Spag17 UTSW 3 99,934,586 (GRCm39) missense probably benign 0.00
R8528:Spag17 UTSW 3 100,031,501 (GRCm39) missense possibly damaging 0.46
R8804:Spag17 UTSW 3 99,874,506 (GRCm39) missense probably benign
R8809:Spag17 UTSW 3 99,889,738 (GRCm39) missense probably benign 0.33
R8818:Spag17 UTSW 3 99,920,543 (GRCm39) missense probably benign 0.02
R8830:Spag17 UTSW 3 100,032,751 (GRCm39) missense possibly damaging 0.77
R8890:Spag17 UTSW 3 99,911,994 (GRCm39) missense possibly damaging 0.73
R9008:Spag17 UTSW 3 99,934,942 (GRCm39) missense possibly damaging 0.73
R9095:Spag17 UTSW 3 99,912,092 (GRCm39) missense possibly damaging 0.86
R9143:Spag17 UTSW 3 99,934,906 (GRCm39) missense probably benign
R9182:Spag17 UTSW 3 99,966,158 (GRCm39) missense possibly damaging 0.92
R9211:Spag17 UTSW 3 100,032,614 (GRCm39) critical splice acceptor site probably benign
R9344:Spag17 UTSW 3 100,010,793 (GRCm39) missense probably benign 0.01
R9354:Spag17 UTSW 3 99,934,905 (GRCm39) missense probably benign
R9527:Spag17 UTSW 3 99,970,777 (GRCm39) missense probably damaging 1.00
R9658:Spag17 UTSW 3 99,934,932 (GRCm39) missense possibly damaging 0.93
R9738:Spag17 UTSW 3 99,934,526 (GRCm39) missense possibly damaging 0.53
X0025:Spag17 UTSW 3 100,008,767 (GRCm39) missense probably benign 0.31
Z1088:Spag17 UTSW 3 100,002,946 (GRCm39) missense probably benign 0.09
Z1176:Spag17 UTSW 3 99,920,309 (GRCm39) missense probably benign 0.18
Z1177:Spag17 UTSW 3 99,995,715 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGACACAAAGCTACCCAGTG -3'
(R):5'- CTGCATTGATGAGAAGGTTAGCC -3'

Sequencing Primer
(F):5'- GTGAAGACCACTTAGCCGC -3'
(R):5'- AGGTTAGCCCTTCCAAATGC -3'
Posted On 2019-09-13