Incidental Mutation 'R0653:Spag16'
ID 62352
Institutional Source Beutler Lab
Gene Symbol Spag16
Ensembl Gene ENSMUSG00000053153
Gene Name sperm associated antigen 16
Synonyms 4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik
MMRRC Submission 038838-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R0653 (G1)
Quality Score 216
Status Not validated
Chromosome 1
Chromosomal Location 69866129-70764291 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 69909504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 200 (K200N)
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: K200N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069821
Gene: ENSMUSG00000053153
AA Change: K200N

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: K200N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109573
Gene: ENSMUSG00000053153
AA Change: K200N

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: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.4%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,066,371 (GRCm39) R612* probably null Het
Adgra1 A G 7: 139,456,063 (GRCm39) T564A probably damaging Het
Akr1c18 A T 13: 4,195,307 (GRCm39) D50E probably damaging Het
Atg9a C A 1: 75,166,972 (GRCm39) L26F probably damaging Het
Atp11b A G 3: 35,893,343 (GRCm39) T899A probably damaging Het
Atxn2 A G 5: 121,910,841 (GRCm39) E358G probably damaging Het
Bmp3 A G 5: 99,019,970 (GRCm39) Y131C probably damaging Het
Brip1 T C 11: 86,043,484 (GRCm39) E360G possibly damaging Het
Casd1 A T 6: 4,608,075 (GRCm39) I76L probably benign Het
Casq2 G A 3: 102,020,482 (GRCm39) probably null Het
Ccdc185 T A 1: 182,575,129 (GRCm39) Q520L possibly damaging Het
Cenpf T C 1: 189,392,183 (GRCm39) K550E probably damaging Het
Ciz1 T C 2: 32,262,418 (GRCm39) S521P probably damaging Het
Clstn2 A T 9: 97,340,257 (GRCm39) V705E probably damaging Het
Dagla A G 19: 10,225,789 (GRCm39) Y792H probably damaging Het
Dgke A T 11: 88,950,995 (GRCm39) C73S probably benign Het
Egflam A G 15: 7,279,509 (GRCm39) probably null Het
Farp1 T C 14: 121,471,258 (GRCm39) probably null Het
Fos A G 12: 85,522,790 (GRCm39) E234G probably benign Het
Gtf3c5 A T 2: 28,468,008 (GRCm39) M151K probably benign Het
Hgs G A 11: 120,359,904 (GRCm39) R36H probably damaging Het
Lats2 G A 14: 57,937,653 (GRCm39) Q279* probably null Het
Lysmd4 T A 7: 66,875,788 (GRCm39) D150E probably benign Het
Mex3b A G 7: 82,518,242 (GRCm39) K186E probably damaging Het
Myo9a A C 9: 59,832,274 (GRCm39) Q2601P probably damaging Het
Nckap5l C A 15: 99,321,127 (GRCm39) V1218F probably damaging Het
Nr5a2 A G 1: 136,876,543 (GRCm39) V40A probably benign Het
Obscn C A 11: 58,898,534 (GRCm39) probably benign Het
Or2y1d C A 11: 49,322,078 (GRCm39) Y258* probably null Het
Or4c114 A G 2: 88,904,808 (GRCm39) I209T possibly damaging Het
Or8g4 A G 9: 39,661,934 (GRCm39) N84S probably benign Het
Pclo T A 5: 14,732,269 (GRCm39) probably benign Het
Reln T C 5: 22,118,228 (GRCm39) I2939V probably benign Het
Rtn4 A T 11: 29,657,256 (GRCm39) K470I probably damaging Het
Sbno1 A G 5: 124,524,955 (GRCm39) I1050T possibly damaging Het
Scaf11 G T 15: 96,316,522 (GRCm39) S17* probably null Het
Scn9a A T 2: 66,363,721 (GRCm39) N841K probably damaging Het
Slc35e3 C A 10: 117,576,711 (GRCm39) E207* probably null Het
Slc6a20b A G 9: 123,426,377 (GRCm39) F503L probably damaging Het
Supt6 G T 11: 78,116,841 (GRCm39) Q604K probably benign Het
Taok1 A G 11: 77,469,550 (GRCm39) probably null Het
Tjp1 A T 7: 64,964,503 (GRCm39) H889Q probably damaging Het
Tmed6 A T 8: 107,792,283 (GRCm39) probably null Het
Tsen54 A T 11: 115,705,887 (GRCm39) E68V probably damaging Het
Ttn A G 2: 76,559,878 (GRCm39) S21181P probably damaging Het
Ube3d A T 9: 86,334,043 (GRCm39) M33K possibly damaging Het
Umodl1 C A 17: 31,203,002 (GRCm39) Q452K probably benign Het
Wif1 G T 10: 120,935,704 (GRCm39) A354S probably benign Het
Wnk2 A G 13: 49,210,492 (GRCm39) F1788L possibly damaging Het
Zfhx3 A T 8: 109,673,440 (GRCm39) I1497F possibly damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp30 G A 7: 29,492,178 (GRCm39) R225Q probably damaging Het
Zfp87 T C 13: 74,520,190 (GRCm39) E296G probably damaging Het
Zfp874b A G 13: 67,623,052 (GRCm39) F86S possibly damaging Het
Zfyve19 A G 2: 119,041,696 (GRCm39) S88G 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
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
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'- AGTGATGTAGAGTAAGACCCCGTCC -3'
(R):5'- TGCTCATACCAGACTACCAAGGCTG -3'

Sequencing Primer
(F):5'- CAGCAGAGTACCATATCTTCTATGC -3'
(R):5'- GCTGTGTCTTGAATGACAAAGC -3'
Posted On 2013-07-30