Incidental Mutation 'R7318:Spag17'
ID 565631
Institutional Source Beutler Lab
Gene Symbol Spag17
Ensembl Gene ENSMUSG00000027867
Gene Name sperm associated antigen 17
Synonyms PF6, 4931427F14Rik
MMRRC Submission 045414-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7318 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 99792722-100050638 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 99847299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 76 (M76R)
Ref Sequence ENSEMBL: ENSMUSP00000134066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164539]
AlphaFold Q5S003
Predicted Effect probably benign
Transcript: ENSMUST00000164539
AA Change: M76R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000134066
Gene: ENSMUSG00000027867
AA Change: M76R

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T C 7: 40,643,111 (GRCm39) L260S probably benign Het
9130230L23Rik A T 5: 66,145,771 (GRCm39) S113R unknown Het
Abcc5 G A 16: 20,211,293 (GRCm39) P557S probably benign Het
Acad11 A G 9: 103,958,466 (GRCm39) T245A probably damaging Het
Acap2 A G 16: 30,946,155 (GRCm39) F263L probably damaging Het
Ankle2 A T 5: 110,385,632 (GRCm39) N327I probably benign Het
Appl1 T C 14: 26,685,617 (GRCm39) E67G probably benign Het
Arfgef3 A T 10: 18,506,211 (GRCm39) C864S possibly damaging Het
Arhgap20 A G 9: 51,751,802 (GRCm39) I418V probably benign Het
Arhgef2 A T 3: 88,539,610 (GRCm39) N102Y probably damaging Het
Car9 G T 4: 43,513,089 (GRCm39) E431D probably damaging Het
Cbfa2t2 T C 2: 154,342,374 (GRCm39) I30T probably benign Het
Cd40 A T 2: 164,904,255 (GRCm39) D34V possibly damaging Het
Chrnb2 T A 3: 89,670,674 (GRCm39) probably null Het
Chsy1 T G 7: 65,759,977 (GRCm39) probably null Het
Cpne6 A G 14: 55,751,751 (GRCm39) T245A possibly damaging Het
Cpsf1 T A 15: 76,481,475 (GRCm39) K1159* probably null Het
Crisp1 T A 17: 40,618,668 (GRCm39) E64D possibly damaging Het
D3Ertd751e A G 3: 41,756,986 (GRCm39) probably null Het
Dennd11 A G 6: 40,386,098 (GRCm39) V333A possibly damaging Het
Dnah7b T A 1: 46,234,532 (GRCm39) L1488Q probably damaging Het
Dnm2 G A 9: 21,416,863 (GRCm39) G799R possibly damaging Het
Elp2 G A 18: 24,739,956 (GRCm39) V61I probably damaging Het
Epb41l3 T C 17: 69,573,135 (GRCm39) L388P Het
Fry A T 5: 150,360,458 (GRCm39) S2035C probably damaging Het
Gas8 T C 8: 124,257,707 (GRCm39) F385L probably benign Het
Ghsr T C 3: 27,426,616 (GRCm39) V224A possibly damaging Het
Gstp2 T A 19: 4,091,065 (GRCm39) R85W probably benign Het
Ighv1-20 T A 12: 114,687,810 (GRCm39) I6F possibly damaging Het
Inpp4b T A 8: 82,798,374 (GRCm39) M854K probably damaging Het
Kif15 A G 9: 122,817,014 (GRCm39) E538G probably damaging Het
Large2 T C 2: 92,196,373 (GRCm39) T485A probably benign Het
Lmo3 T A 6: 138,398,363 (GRCm39) probably benign Het
Lyg1 G A 1: 37,988,936 (GRCm39) P95S probably benign Het
Lyst A G 13: 13,932,028 (GRCm39) H3552R probably benign Het
Mtif2 C T 11: 29,490,115 (GRCm39) S385L probably benign Het
Muc4 A T 16: 32,575,710 (GRCm39) I1737F unknown Het
Mug1 T C 6: 121,847,611 (GRCm39) probably null Het
Mx1 G T 16: 97,253,286 (GRCm39) Q350K probably benign Het
Mylk3 G T 8: 86,085,726 (GRCm39) D269E probably benign Het
Myo3a A T 2: 22,448,332 (GRCm39) K974* probably null Het
Nectin4 G T 1: 171,208,031 (GRCm39) R141L probably benign Het
Nlgn2 T C 11: 69,716,795 (GRCm39) H582R probably damaging Het
Or51ab3 T A 7: 103,201,298 (GRCm39) M102K probably damaging Het
Or51e1 T A 7: 102,359,226 (GRCm39) Y253* probably null Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Psmd11 C A 11: 80,347,128 (GRCm39) L171I probably benign Het
Rad54l A G 4: 115,967,906 (GRCm39) V152A possibly damaging Het
Ranbp2 T A 10: 58,318,909 (GRCm39) Y2473* probably null Het
Sertad1 T C 7: 27,188,910 (GRCm39) I77T possibly damaging Het
Sesn3 A T 9: 14,219,873 (GRCm39) E87D probably damaging Het
Slc30a5 A T 13: 100,950,477 (GRCm39) S260R probably benign Het
Slc6a12 G A 6: 121,328,972 (GRCm39) G111S probably damaging Het
Slc6a12 T C 6: 121,328,978 (GRCm39) Y113H probably benign Het
Spata31f3 TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 (GRCm39) probably benign Het
Stard13 G A 5: 150,986,038 (GRCm39) Q491* probably null Het
Synpo2 T C 3: 122,910,968 (GRCm39) S226G probably benign Het
Tada2b G A 5: 36,641,331 (GRCm39) T24I probably benign Het
Tafa1 T C 6: 96,092,737 (GRCm39) probably null Het
Tmem51 TCCCC TCCC 4: 141,764,996 (GRCm39) probably null Het
Tnnt1 T A 7: 4,513,547 (GRCm39) probably null Het
Usp17lb T C 7: 104,490,340 (GRCm39) I196V probably benign Het
Utp20 T A 10: 88,649,811 (GRCm39) K466N possibly damaging Het
Wdr46 T C 17: 34,160,859 (GRCm39) probably null Het
Zfp287 T A 11: 62,605,104 (GRCm39) Q601L probably damaging Het
Zfp410 T C 12: 84,372,464 (GRCm39) S97P 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
R7403:Spag17 UTSW 3 99,846,691 (GRCm39) missense possibly damaging 0.53
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'- ACATGTGCGAGTACCAGCAC -3'
(R):5'- GTGTCTGTGTATATGAGGAACAAAC -3'

Sequencing Primer
(F):5'- CCCTGACGAGAGAGGTTATAAATAC -3'
(R):5'- GGAACAAACAATCAATGGATAGTGG -3'
Posted On 2019-06-26