Incidental Mutation 'R1714:Spag16'
ID 190827
Institutional Source Beutler Lab
Gene Symbol Spag16
Ensembl Gene ENSMUSG00000053153
Gene Name sperm associated antigen 16
Synonyms 4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik
MMRRC Submission 039747-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R1714 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 69866129-70764291 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69882164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 52 (E52G)
Ref Sequence ENSEMBL: ENSMUSP00000109573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065425] [ENSMUST00000113940]
AlphaFold Q8K450
Predicted Effect probably damaging
Transcript: ENSMUST00000065425
AA Change: E52G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000069821
Gene: ENSMUSG00000053153
AA Change: E52G

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 damaging
Transcript: ENSMUST00000113940
AA Change: E52G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109573
Gene: ENSMUSG00000053153
AA Change: E52G

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: ENSMUST00000161131
SMART Domains Protein: ENSMUSP00000124372
Gene: ENSMUSG00000053153

DomainStartEndE-ValueType
low complexity region 45 55 N/A INTRINSIC
coiled coil region 146 190 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190833
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.5%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,464,479 (GRCm39) T892I possibly damaging Het
Abcb11 A C 2: 69,136,925 (GRCm39) F179V probably damaging Het
Adgrg6 G T 10: 14,315,514 (GRCm39) Q597K possibly damaging Het
Ankmy1 G T 1: 92,812,916 (GRCm39) Y464* probably null Het
Apba1 G A 19: 23,922,316 (GRCm39) E795K possibly damaging Het
Aqp12 T A 1: 92,934,681 (GRCm39) V186D possibly damaging Het
Brd8 A T 18: 34,742,886 (GRCm39) S253R probably damaging Het
Cdc42se2 A T 11: 54,631,112 (GRCm39) S2R possibly damaging Het
Chd9 A C 8: 91,760,853 (GRCm39) probably benign Het
Clk4 C T 11: 51,171,245 (GRCm39) H219Y probably damaging Het
Cngb1 A G 8: 95,984,559 (GRCm39) Y417H probably damaging Het
Cr2 A T 1: 194,833,994 (GRCm39) F932I possibly damaging Het
Cxxc1 C A 18: 74,352,934 (GRCm39) R415S probably damaging Het
Dclk2 G A 3: 86,813,400 (GRCm39) A182V probably benign Het
Ddx11 T G 17: 66,455,754 (GRCm39) W718G probably damaging Het
Dmd A C X: 83,008,356 (GRCm39) T2069P probably benign Het
Dnai1 T C 4: 41,632,164 (GRCm39) F533L probably benign Het
Dnajc5b A T 3: 19,633,265 (GRCm39) R163* probably null Het
Dynll2 T A 11: 87,874,838 (GRCm39) probably null Het
Ercc5 A G 1: 44,206,499 (GRCm39) T471A probably benign Het
Fan1 T C 7: 64,016,435 (GRCm39) D563G probably benign Het
Fbxo34 A G 14: 47,766,658 (GRCm39) Y6C probably damaging Het
Fcrl5 T A 3: 87,353,713 (GRCm39) S353T probably damaging Het
Gabrb3 A T 7: 57,415,176 (GRCm39) Y82F probably damaging Het
Gm20939 C A 17: 95,183,234 (GRCm39) P157T probably damaging Het
H2bc1 T C 13: 24,117,935 (GRCm39) T69A probably benign Het
Haus3 A T 5: 34,321,041 (GRCm39) H468Q probably benign Het
Il20ra T C 10: 19,631,576 (GRCm39) V259A probably damaging Het
Isg15 A T 4: 156,284,414 (GRCm39) V38E probably damaging Het
Kcnq3 A G 15: 65,871,912 (GRCm39) S586P probably benign Het
Kl A T 5: 150,876,798 (GRCm39) Y206F probably benign Het
Klk1b24 C A 7: 43,840,939 (GRCm39) D122E probably damaging Het
Kmt2d A C 15: 98,760,831 (GRCm39) S840A unknown Het
Krt34 A G 11: 99,930,953 (GRCm39) S150P possibly damaging Het
Lamc3 A G 2: 31,830,769 (GRCm39) K1502R probably benign Het
Letm1 G T 5: 33,918,228 (GRCm39) R306S possibly damaging Het
Lnx1 C T 5: 74,768,398 (GRCm39) G397S probably null Het
Lrrc8c A G 5: 105,755,157 (GRCm39) T311A possibly damaging Het
Mpeg1 A T 19: 12,440,198 (GRCm39) D552V probably damaging Het
Myh11 C T 16: 14,054,232 (GRCm39) probably null Het
Ndufa9 T C 6: 126,799,154 (GRCm39) probably null Het
Or4e5 A C 14: 52,727,871 (GRCm39) probably null Het
Or4f4b A T 2: 111,314,008 (GRCm39) I78F probably damaging Het
Or8s8 G A 15: 98,354,614 (GRCm39) C141Y probably damaging Het
Polr3d A C 14: 70,678,755 (GRCm39) M117R possibly damaging Het
Ppp5c T C 7: 16,742,628 (GRCm39) I237V probably benign Het
Prrc2c G A 1: 162,504,945 (GRCm39) T2632M probably damaging Het
Ptprg C A 14: 12,213,697 (GRCm38) Q1022K probably damaging Het
Pus10 T A 11: 23,675,542 (GRCm39) H471Q probably damaging Het
Ralgapa1 A G 12: 55,689,174 (GRCm39) V1928A probably damaging Het
Rbpms2 CACT CACTACT 9: 65,558,947 (GRCm39) probably benign Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Rfpl4 T G 7: 5,113,357 (GRCm39) T269P probably benign Het
Rgs10 A G 7: 128,004,946 (GRCm39) V72A probably damaging Het
Rsph1 T C 17: 31,474,190 (GRCm39) N289S probably benign Het
Sbk2 T C 7: 4,966,121 (GRCm39) D21G probably benign Het
Shbg A T 11: 69,507,983 (GRCm39) D127E possibly damaging Het
Ssh2 G A 11: 77,344,850 (GRCm39) G945D possibly damaging Het
Sstr3 A T 15: 78,424,473 (GRCm39) D91E probably damaging Het
Syne2 C A 12: 76,101,713 (GRCm39) A669E probably benign Het
Traf3 A G 12: 111,208,907 (GRCm39) I109V probably benign Het
Ube2j1 A G 4: 33,049,886 (GRCm39) T295A probably damaging Het
Usp46 A G 5: 74,163,828 (GRCm39) V276A probably benign Het
Vmn1r200 T C 13: 22,579,640 (GRCm39) S139P possibly damaging Het
Ydjc G A 16: 16,965,663 (GRCm39) V143M probably damaging Het
Zfp169 T C 13: 48,652,330 (GRCm39) E29G probably benign Het
Zfp292 A G 4: 34,808,935 (GRCm39) S1370P probably damaging Het
Zfp763 C T 17: 33,238,591 (GRCm39) D185N probably damaging Het
Zfp827 A T 8: 79,787,202 (GRCm39) N123Y probably damaging Het
Zfp979 A T 4: 147,698,442 (GRCm39) I89N probably damaging Het
Zfr2 T C 10: 81,080,583 (GRCm39) L419P 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
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
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'- CGCTTTGCACCTGTTATGAGAGGG -3'
(R):5'- CATAAGCAGTGATGCTGAGGGAACC -3'

Sequencing Primer
(F):5'- ACTGATGCCCTTCTAGCCAG -3'
(R):5'- GCAGATGTCCTAGACAGTGC -3'
Posted On 2014-05-14