Incidental Mutation 'R9671:Spag16'
ID 728025
Institutional Source Beutler Lab
Gene Symbol Spag16
Ensembl Gene ENSMUSG00000053153
Gene Name sperm associated antigen 16
Synonyms 4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R9671 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 69866129-70764291 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 69883495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 75 (H75N)
Ref Sequence ENSEMBL: ENSMUSP00000069821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065425] [ENSMUST00000113940]
AlphaFold Q8K450
Predicted Effect probably benign
Transcript: ENSMUST00000065425
AA Change: H75N

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000069821
Gene: ENSMUSG00000053153
AA Change: H75N

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 possibly damaging
Transcript: ENSMUST00000113940
AA Change: H75N

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109573
Gene: ENSMUSG00000053153
AA Change: H75N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 64,055,948 (GRCm39) L228* probably null Het
Acsf2 T C 11: 94,460,802 (GRCm39) D368G probably benign Het
Adat2 T A 10: 13,438,452 (GRCm39) N177K probably damaging Het
Adgrf5 G T 17: 43,760,795 (GRCm39) R830M probably damaging Het
Apoh G A 11: 108,286,792 (GRCm39) W72* probably null Het
Bcl2l12 G T 7: 44,642,301 (GRCm39) P195Q probably damaging Het
Cacna1b T C 2: 24,596,282 (GRCm39) M470V probably benign Het
Ccdc188 A T 16: 18,036,268 (GRCm39) R79* probably null Het
Cd34 T A 1: 194,641,501 (GRCm39) M309K probably damaging Het
Clec4a2 A T 6: 123,101,942 (GRCm39) K32N possibly damaging Het
Csmd3 G T 15: 47,845,299 (GRCm39) P88H Het
Def6 A G 17: 28,438,755 (GRCm39) S154G probably benign Het
Dot1l T C 10: 80,620,613 (GRCm39) L530P probably damaging Het
Fam13a A G 6: 58,951,014 (GRCm39) probably null Het
Fat3 G A 9: 16,286,871 (GRCm39) A884V possibly damaging Het
Frem3 C A 8: 81,339,134 (GRCm39) H476N probably benign Het
Gm3404 T C 5: 146,463,031 (GRCm39) V71A probably benign Het
Hnf4g T G 3: 3,703,273 (GRCm39) S53R probably benign Het
Ighv13-2 T C 12: 114,321,796 (GRCm39) N15D probably benign Het
Jak1 T C 4: 101,034,926 (GRCm39) K339E possibly damaging Het
Klhl35 C G 7: 99,117,702 (GRCm39) P82R probably benign Het
Klhl40 T A 9: 121,607,743 (GRCm39) V301E probably benign Het
Knl1 A T 2: 118,901,089 (GRCm39) N930I probably damaging Het
Ltbp1 A G 17: 75,603,217 (GRCm39) probably null Het
Mapk7 T C 11: 61,382,498 (GRCm39) D68G probably damaging Het
Myo3b A G 2: 70,086,908 (GRCm39) H852R probably damaging Het
Or51a6 A T 7: 102,604,633 (GRCm39) H58Q probably benign Het
Pkd2 A G 5: 104,637,256 (GRCm39) D623G probably damaging Het
Pramel14 A C 4: 143,719,687 (GRCm39) I226S probably benign Het
Rfxank T C 8: 70,588,198 (GRCm39) T118A probably benign Het
Rxrb T A 17: 34,252,020 (GRCm39) probably null Het
Sec14l3 G A 11: 4,025,486 (GRCm39) V337M probably damaging Het
Sema3e A G 5: 14,212,217 (GRCm39) T98A probably benign Het
Ska1 A T 18: 74,333,010 (GRCm39) M136K probably damaging Het
Slc19a3 T C 1: 83,000,297 (GRCm39) D240G probably benign Het
Snph T C 2: 151,436,331 (GRCm39) Y199C probably damaging Het
Sorl1 A T 9: 41,943,077 (GRCm39) I933N possibly damaging Het
Spice1 C T 16: 44,199,671 (GRCm39) R708C probably benign Het
Tet3 C A 6: 83,381,136 (GRCm39) S344I possibly damaging Het
Trav5-4 A G 14: 53,941,816 (GRCm39) E63G possibly damaging Het
Trp73 G A 4: 154,148,403 (GRCm39) P337L probably benign Het
Ttn A G 2: 76,778,359 (GRCm39) F1343L unknown Het
Vipas39 T C 12: 87,292,985 (GRCm39) H320R probably benign Het
Vmn2r4 T C 3: 64,317,271 (GRCm39) I156V probably benign Het
Wdr81 T C 11: 75,345,189 (GRCm39) D26G probably damaging Het
Zscan4d A T 7: 10,898,945 (GRCm39) F111I probably damaging 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
R6246:Spag16 UTSW 1 69,962,980 (GRCm39) missense probably benign 0.45
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
R9728:Spag16 UTSW 1 69,962,842 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GGTAACTAAACATAGTTTGAAGTACCG -3'
(R):5'- TAGTTGTTGGAAACTCATGTAAGAG -3'

Sequencing Primer
(F):5'- ACATAGTTTGAAGTACCGTTGGATG -3'
(R):5'- GCTAAAGCTCGCTTTAAGTGG -3'
Posted On 2022-10-06