Incidental Mutation 'R6246:Spag16'
ID 505742
Institutional Source Beutler Lab
Gene Symbol Spag16
Ensembl Gene ENSMUSG00000053153
Gene Name sperm associated antigen 16
Synonyms 4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik
MMRRC Submission 044436-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R6246 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 69866129-70764291 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69962980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 376 (I376F)
Ref Sequence ENSEMBL: ENSMUSP00000109573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065425] [ENSMUST00000113940]
AlphaFold Q8K450
Predicted Effect probably benign
Transcript: ENSMUST00000065425
SMART Domains Protein: ENSMUSP00000069821
Gene: ENSMUSG00000053153

DomainStartEndE-ValueType
low complexity region 45 55 N/A INTRINSIC
coiled coil region 146 190 N/A INTRINSIC
WD40 349 388 7.8e-2 SMART
WD40 391 430 6.23e-10 SMART
WD40 433 472 1.34e-9 SMART
WD40 475 514 1.92e-10 SMART
WD40 517 556 2.38e-6 SMART
WD40 559 598 1.42e2 SMART
WD40 600 639 4.83e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113940
AA Change: I376F

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109573
Gene: ENSMUSG00000053153
AA Change: I376F

DomainStartEndE-ValueType
low complexity region 45 55 N/A INTRINSIC
coiled coil region 146 190 N/A INTRINSIC
low complexity region 342 347 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158720
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190833
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 100% (78/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM, Jul 2008]
PHENOTYPE: Chimeric males carrying one copy of the mutated allele have impaired spermatogenesis, a significant loss of germ cells at the round spermatid stage, and disorganized sperm axoneme structure. No offspring carrying the mutated allele are produced from matings using male chimeras. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,850,999 (GRCm39) V2110E probably damaging Het
Acaca C A 11: 84,206,796 (GRCm39) T1552K probably benign Het
Aknad1 A G 3: 108,659,148 (GRCm39) D54G probably damaging Het
Ano1 T C 7: 144,187,462 (GRCm39) T435A possibly damaging Het
Azgp1 A G 5: 137,983,475 (GRCm39) D50G possibly damaging Het
Bbx A G 16: 50,045,023 (GRCm39) S513P probably benign Het
Ccdc85a C T 11: 28,526,897 (GRCm39) S209N probably damaging Het
Cdca2 T A 14: 67,915,277 (GRCm39) R661* probably null Het
Cdhr2 T C 13: 54,867,523 (GRCm39) V451A probably damaging Het
Cenpt C T 8: 106,575,891 (GRCm39) G152S possibly damaging Het
Chd9 A G 8: 91,659,045 (GRCm39) T2A probably damaging Het
Chst14 G A 2: 118,757,482 (GRCm39) C117Y probably damaging Het
Cic C T 7: 24,971,067 (GRCm39) T266M probably damaging Het
Clec12a A T 6: 129,330,733 (GRCm39) N105I possibly damaging Het
Cmah G A 13: 24,650,773 (GRCm39) V525M probably damaging Het
Cplane1 T A 15: 8,239,498 (GRCm39) L1233H probably damaging Het
Cpt1a T C 19: 3,426,550 (GRCm39) L572P probably damaging Het
Crybg2 T C 4: 133,816,657 (GRCm39) L1365P probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dlg1 G A 16: 31,484,468 (GRCm39) S32N probably benign Het
Dnah14 T C 1: 181,508,453 (GRCm39) I1877T probably benign Het
Duox1 G T 2: 122,157,655 (GRCm39) G594C probably damaging Het
Eci2 T C 13: 35,174,181 (GRCm39) N127D probably damaging Het
Ecpas A G 4: 58,811,365 (GRCm39) probably null Het
Fat4 T C 3: 38,945,870 (GRCm39) S1588P probably damaging Het
Fer1l4 T A 2: 155,866,902 (GRCm39) I1489F probably damaging Het
Flrt3 A G 2: 140,501,721 (GRCm39) Y636H probably damaging Het
Frmd5 T A 2: 121,381,529 (GRCm39) H62L possibly damaging Het
Gm6309 A T 5: 146,107,050 (GRCm39) Y99N probably damaging Het
Gm8225 T C 17: 26,762,652 (GRCm39) V281A probably benign Het
Grep1 C A 17: 23,929,465 (GRCm39) G315* probably null Het
Grsf1 A G 5: 88,810,451 (GRCm39) L353P possibly damaging Het
Gtf2a1l A G 17: 88,978,975 (GRCm39) R58G probably benign Het
Guf1 G A 5: 69,715,898 (GRCm39) G113R probably damaging Het
Hfe A T 13: 23,892,212 (GRCm39) F51I probably damaging Het
Hibch T C 1: 52,943,801 (GRCm39) S250P probably damaging Het
Il1rap T A 16: 26,533,631 (GRCm39) M509K probably benign Het
Il4ra T C 7: 125,175,577 (GRCm39) V595A probably benign Het
Ints11 A G 4: 155,972,546 (GRCm39) T460A probably benign Het
Itprid1 A T 6: 55,944,657 (GRCm39) K459N probably damaging Het
Kdm5a G A 6: 120,408,871 (GRCm39) G1518E probably damaging Het
Khsrp T C 17: 57,332,324 (GRCm39) D289G possibly damaging Het
Kif14 C T 1: 136,404,162 (GRCm39) Q29* probably null Het
Krt72 T C 15: 101,689,372 (GRCm39) K320R probably damaging Het
Lcmt2 A G 2: 120,970,870 (GRCm39) L71P probably damaging Het
Lmo7 A T 14: 102,156,136 (GRCm39) D1037V probably damaging Het
Lpo T C 11: 87,713,058 (GRCm39) T15A unknown Het
Mia3 G T 1: 183,126,720 (GRCm39) T7N probably damaging Het
Muc16 A T 9: 18,488,363 (GRCm39) probably null Het
Mup9 T A 4: 60,375,809 (GRCm39) Y29F probably damaging Het
Nisch T C 14: 30,894,516 (GRCm39) D1105G probably damaging Het
Odad1 A G 7: 45,585,788 (GRCm39) I116V probably damaging Het
Oip5 T C 2: 119,446,101 (GRCm39) T136A probably benign Het
Or2a52 G A 6: 43,144,436 (GRCm39) probably null Het
Osbpl10 C A 9: 115,055,842 (GRCm39) N532K probably benign Het
P2ry12 C T 3: 59,124,950 (GRCm39) V242I probably benign Het
Pdhx A T 2: 102,877,137 (GRCm39) C26S probably damaging Het
Pgk2 A T 17: 40,518,315 (GRCm39) I371K probably damaging Het
Phyhip T C 14: 70,704,495 (GRCm39) V238A probably damaging Het
Pla2g4a G A 1: 149,748,338 (GRCm39) T282I probably damaging Het
Pld5 A T 1: 175,791,475 (GRCm39) C448* probably null Het
Plk1 T A 7: 121,768,659 (GRCm39) I553N probably damaging Het
Ppp1r13l T A 7: 19,103,783 (GRCm39) I88K probably benign Het
Rad54l2 A G 9: 106,577,692 (GRCm39) probably null Het
Septin7 A G 9: 25,218,817 (GRCm39) E428G probably benign Het
Serpina3j G A 12: 104,283,706 (GRCm39) G268D probably damaging Het
Smc2 A T 4: 52,460,289 (GRCm39) D555V probably damaging Het
Spag6 G A 2: 18,703,906 (GRCm39) probably null Het
Tecta T C 9: 42,289,204 (GRCm39) I454V probably benign Het
Tlcd3b T A 7: 126,426,668 (GRCm39) F30L probably damaging Het
Tm9sf1 C T 14: 55,873,827 (GRCm39) R557H probably damaging Het
Traf5 C T 1: 191,754,853 (GRCm39) E28K probably damaging Het
Trav23 G A 14: 54,214,885 (GRCm39) E33K probably damaging Het
Trim32 T C 4: 65,532,801 (GRCm39) S453P probably damaging Het
Tssk1 A G 16: 17,713,303 (GRCm39) T363A probably benign Het
Txnrd3 A G 6: 89,628,523 (GRCm39) N88S probably benign Het
Unc13b A G 4: 43,216,246 (GRCm39) S182G probably benign Het
Vmn2r89 A T 14: 51,693,503 (GRCm39) R284S probably damaging Het
Zbtb14 A G 17: 69,694,478 (GRCm39) T59A possibly damaging Het
Zcchc2 T A 1: 105,957,796 (GRCm39) S756T possibly damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Other mutations in Spag16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00793:Spag16 APN 1 70,338,809 (GRCm39) missense probably damaging 1.00
IGL01129:Spag16 APN 1 69,935,681 (GRCm39) missense probably benign 0.01
IGL02117:Spag16 APN 1 69,909,479 (GRCm39) missense probably damaging 1.00
IGL02245:Spag16 APN 1 69,897,661 (GRCm39) missense probably benign
IGL02492:Spag16 APN 1 69,926,688 (GRCm39) missense probably benign
IGL02851:Spag16 APN 1 70,304,067 (GRCm39) missense possibly damaging 0.76
IGL03271:Spag16 APN 1 69,892,511 (GRCm39) missense probably benign 0.00
IGL03274:Spag16 APN 1 69,883,540 (GRCm39) splice site probably benign
PIT4243001:Spag16 UTSW 1 69,892,540 (GRCm39) missense probably damaging 1.00
R0084:Spag16 UTSW 1 70,035,998 (GRCm39) missense probably benign 0.02
R0513:Spag16 UTSW 1 70,532,927 (GRCm39) splice site probably benign
R0653:Spag16 UTSW 1 69,909,504 (GRCm39) missense probably damaging 1.00
R1165:Spag16 UTSW 1 70,036,036 (GRCm39) missense probably benign 0.04
R1178:Spag16 UTSW 1 69,962,817 (GRCm39) splice site probably benign
R1180:Spag16 UTSW 1 69,962,817 (GRCm39) splice site probably benign
R1404:Spag16 UTSW 1 69,934,439 (GRCm39) splice site probably benign
R1547:Spag16 UTSW 1 69,912,402 (GRCm39) missense possibly damaging 0.51
R1689:Spag16 UTSW 1 70,500,277 (GRCm39) missense probably benign 0.01
R1699:Spag16 UTSW 1 70,036,015 (GRCm39) missense probably benign 0.05
R1714:Spag16 UTSW 1 69,882,164 (GRCm39) missense probably damaging 0.97
R1724:Spag16 UTSW 1 70,532,941 (GRCm39) missense probably damaging 1.00
R1873:Spag16 UTSW 1 69,935,744 (GRCm39) splice site probably benign
R2196:Spag16 UTSW 1 69,897,681 (GRCm39) missense possibly damaging 0.92
R2207:Spag16 UTSW 1 70,764,043 (GRCm39) missense probably benign 0.00
R4058:Spag16 UTSW 1 69,892,487 (GRCm39) missense probably damaging 0.96
R4276:Spag16 UTSW 1 69,912,640 (GRCm39) intron probably benign
R4497:Spag16 UTSW 1 70,532,989 (GRCm39) missense probably damaging 1.00
R4560:Spag16 UTSW 1 69,883,455 (GRCm39) missense probably benign 0.05
R4648:Spag16 UTSW 1 69,866,194 (GRCm39) missense probably null 0.99
R4972:Spag16 UTSW 1 70,764,087 (GRCm39) missense probably damaging 1.00
R5027:Spag16 UTSW 1 69,962,963 (GRCm39) intron probably benign
R5032:Spag16 UTSW 1 69,892,511 (GRCm39) missense probably benign 0.00
R5174:Spag16 UTSW 1 70,532,955 (GRCm39) missense probably damaging 1.00
R5276:Spag16 UTSW 1 69,935,742 (GRCm39) critical splice donor site probably null
R5537:Spag16 UTSW 1 69,866,175 (GRCm39) missense probably benign
R5706:Spag16 UTSW 1 69,909,448 (GRCm39) missense probably benign 0.01
R5834:Spag16 UTSW 1 69,962,873 (GRCm39) missense probably benign 0.00
R6131:Spag16 UTSW 1 70,764,242 (GRCm39) splice site probably null
R7164:Spag16 UTSW 1 70,764,025 (GRCm39) missense possibly damaging 0.88
R7261:Spag16 UTSW 1 70,338,780 (GRCm39) missense possibly damaging 0.56
R7298:Spag16 UTSW 1 69,958,585 (GRCm39) splice site probably null
R7358:Spag16 UTSW 1 69,883,526 (GRCm39) missense probably benign 0.00
R7431:Spag16 UTSW 1 69,963,031 (GRCm39) missense unknown
R7508:Spag16 UTSW 1 69,926,679 (GRCm39) missense possibly damaging 0.93
R7566:Spag16 UTSW 1 69,909,487 (GRCm39) missense probably damaging 1.00
R7570:Spag16 UTSW 1 70,036,000 (GRCm39) missense probably benign 0.00
R7598:Spag16 UTSW 1 69,909,467 (GRCm39) missense probably damaging 1.00
R7942:Spag16 UTSW 1 69,866,247 (GRCm39) missense probably benign 0.11
R8047:Spag16 UTSW 1 69,882,155 (GRCm39) missense probably damaging 1.00
R8132:Spag16 UTSW 1 70,420,461 (GRCm39) missense probably damaging 1.00
R8329:Spag16 UTSW 1 69,934,407 (GRCm39) missense probably benign 0.00
R8870:Spag16 UTSW 1 70,036,017 (GRCm39) missense probably benign 0.05
R8930:Spag16 UTSW 1 70,338,928 (GRCm39) critical splice donor site probably null
R8932:Spag16 UTSW 1 70,338,928 (GRCm39) critical splice donor site probably null
R8954:Spag16 UTSW 1 70,036,004 (GRCm39) missense
R8998:Spag16 UTSW 1 69,935,706 (GRCm39) missense probably benign 0.00
R9077:Spag16 UTSW 1 70,532,930 (GRCm39) splice site probably benign
R9144:Spag16 UTSW 1 70,420,459 (GRCm39) missense probably damaging 1.00
R9145:Spag16 UTSW 1 70,420,459 (GRCm39) missense probably damaging 1.00
R9148:Spag16 UTSW 1 70,420,459 (GRCm39) missense probably damaging 1.00
R9160:Spag16 UTSW 1 69,962,873 (GRCm39) missense probably benign 0.00
R9192:Spag16 UTSW 1 69,963,007 (GRCm39) missense unknown
R9436:Spag16 UTSW 1 69,892,539 (GRCm39) missense probably damaging 0.96
R9582:Spag16 UTSW 1 69,897,717 (GRCm39) missense probably benign 0.00
R9660:Spag16 UTSW 1 69,962,842 (GRCm39) missense probably benign 0.03
R9666:Spag16 UTSW 1 70,764,072 (GRCm39) missense probably damaging 1.00
R9671:Spag16 UTSW 1 69,883,495 (GRCm39) missense probably benign 0.29
R9728:Spag16 UTSW 1 69,962,842 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CAGGAACTCAAAAGCCAAAGTTTG -3'
(R):5'- TGGGAATCTTGGACTCCTTCAG -3'

Sequencing Primer
(F):5'- CCATGCAGATCTTATACTTGTTTGTG -3'
(R):5'- TCCTTCAGGAGTCCAAAAAGAAC -3'
Posted On 2018-02-28