Incidental Mutation 'R1178:Spag16'
ID100102
Institutional Source Beutler Lab
Gene Symbol Spag16
Ensembl Gene ENSMUSG00000053153
Gene Namesperm associated antigen 16
Synonyms4930585K05Rik, Pf20, 4930524F24Rik, Wdr29, 4921511D23Rik
MMRRC Submission 039250-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.238) question?
Stock #R1178 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location69826970-70725132 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 69923658 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065425] [ENSMUST00000113940]
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
SMART Domains Protein: ENSMUSP00000109573
Gene: ENSMUSG00000053153

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
Meta Mutation Damage Score 0.0572 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.5%
Validation Efficiency 98% (51/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G T 13: 81,440,037 probably benign Het
Apcdd1 A T 18: 62,937,097 Y145F probably damaging Het
Brinp1 C T 4: 68,762,553 G580E probably damaging Het
Cep128 G A 12: 91,260,155 T227M probably damaging Het
Cxcr2 A T 1: 74,158,368 D7V probably benign Het
Dync2h1 C T 9: 7,101,193 probably benign Het
Eps8 T C 6: 137,522,854 Q209R possibly damaging Het
Gabrg3 C T 7: 56,735,091 V241I probably benign Het
Gfpt2 T C 11: 49,823,309 S298P probably benign Het
Gm14685 G T X: 73,127,655 G218C probably damaging Het
Gm6797 T A X: 8,641,765 noncoding transcript Het
Gp1ba C T 11: 70,641,427 P673L probably damaging Het
Heatr5b A G 17: 78,813,269 L742P probably damaging Het
Hgd A G 16: 37,615,394 I115V possibly damaging Het
Hmgcll1 A T 9: 76,130,331 D169V probably damaging Het
Ifi202b A T 1: 173,972,222 I231K probably benign Het
Itpripl1 A G 2: 127,141,899 I101T probably benign Het
Kcnj9 A G 1: 172,322,963 V361A probably benign Het
Map4k5 G A 12: 69,816,378 T567M probably damaging Het
Ncapd3 A G 9: 27,041,421 D82G probably benign Het
Nupl1 A T 14: 60,244,670 probably benign Het
Olfr1155 G A 2: 87,943,146 L161F probably benign Het
Olfr150 A G 9: 39,737,346 Y177C probably damaging Het
Olfr926 A G 9: 38,877,755 E193G probably damaging Het
Pfn2 C T 3: 57,845,345 V3I probably benign Het
Pirb A T 7: 3,717,638 L287Q probably benign Het
Pkhd1 C T 1: 20,585,157 probably null Het
Plekha2 A C 8: 25,059,202 S189A probably benign Het
Prune2 T C 19: 17,123,105 V1991A probably benign Het
Psg17 T C 7: 18,814,455 T464A probably benign Het
Rab8b A G 9: 66,852,967 M125T possibly damaging Het
Rbl1 T A 2: 157,147,655 M1015L possibly damaging Het
Ryr3 T A 2: 112,964,380 Q149L probably benign Het
Scn2a C A 2: 65,686,779 probably benign Het
Sec61g A C 11: 16,504,722 probably benign Het
Smcr8 G A 11: 60,779,532 R502H probably damaging Het
Spink13 A G 18: 62,608,170 probably benign Het
Stk25 T C 1: 93,623,389 probably benign Het
Syngap1 A G 17: 26,957,805 N314D probably damaging Het
Tek T C 4: 94,804,287 C160R probably damaging Het
Tenm2 C T 11: 36,063,177 G1236R possibly damaging Het
Tll2 T G 19: 41,092,847 D712A probably damaging Het
Tmprss13 A T 9: 45,328,647 R84S unknown Het
Ttn A T 2: 76,969,703 I387N probably damaging Het
Ubr1 T A 2: 120,926,029 K706* probably null Het
Upk2 A T 9: 44,454,173 S33T probably benign Het
Usp47 T G 7: 112,109,998 M1317R possibly damaging Het
Wdr19 T C 5: 65,223,865 Y411H probably damaging Het
Zfp143 C T 7: 110,075,721 probably benign Het
Zfp473 T C 7: 44,734,594 D105G probably benign Het
Zfp474 C T 18: 52,638,742 Q156* probably null Het
Other mutations in Spag16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00793:Spag16 APN 1 70299650 missense probably damaging 1.00
IGL01129:Spag16 APN 1 69896522 missense probably benign 0.01
IGL02117:Spag16 APN 1 69870320 missense probably damaging 1.00
IGL02245:Spag16 APN 1 69858502 missense probably benign
IGL02492:Spag16 APN 1 69887529 missense probably benign
IGL02851:Spag16 APN 1 70264908 missense possibly damaging 0.76
IGL03271:Spag16 APN 1 69853352 missense probably benign 0.00
IGL03274:Spag16 APN 1 69844381 splice site probably benign
PIT4243001:Spag16 UTSW 1 69853381 missense probably damaging 1.00
R0084:Spag16 UTSW 1 69996839 missense probably benign 0.02
R0513:Spag16 UTSW 1 70493768 splice site probably benign
R0653:Spag16 UTSW 1 69870345 missense probably damaging 1.00
R1165:Spag16 UTSW 1 69996877 missense probably benign 0.04
R1180:Spag16 UTSW 1 69923658 splice site probably benign
R1404:Spag16 UTSW 1 69895280 splice site probably benign
R1547:Spag16 UTSW 1 69873243 missense possibly damaging 0.51
R1689:Spag16 UTSW 1 70461118 missense probably benign 0.01
R1699:Spag16 UTSW 1 69996856 missense probably benign 0.05
R1714:Spag16 UTSW 1 69843005 missense probably damaging 0.97
R1724:Spag16 UTSW 1 70493782 missense probably damaging 1.00
R1873:Spag16 UTSW 1 69896585 splice site probably benign
R2196:Spag16 UTSW 1 69858522 missense possibly damaging 0.92
R2207:Spag16 UTSW 1 70724884 missense probably benign 0.00
R4058:Spag16 UTSW 1 69853328 missense probably damaging 0.96
R4276:Spag16 UTSW 1 69873481 intron probably benign
R4497:Spag16 UTSW 1 70493830 missense probably damaging 1.00
R4560:Spag16 UTSW 1 69844296 missense probably benign 0.05
R4648:Spag16 UTSW 1 69827035 missense probably null 0.99
R4972:Spag16 UTSW 1 70724928 missense probably damaging 1.00
R5027:Spag16 UTSW 1 69923804 intron probably benign
R5032:Spag16 UTSW 1 69853352 missense probably benign 0.00
R5174:Spag16 UTSW 1 70493796 missense probably damaging 1.00
R5276:Spag16 UTSW 1 69896583 critical splice donor site probably null
R5537:Spag16 UTSW 1 69827016 missense probably benign
R5706:Spag16 UTSW 1 69870289 missense probably benign 0.01
R5834:Spag16 UTSW 1 69923714 missense probably benign 0.00
R6131:Spag16 UTSW 1 70725083 utr 3 prime probably null
R6246:Spag16 UTSW 1 69923821 missense probably benign 0.45
R7164:Spag16 UTSW 1 70724866 missense possibly damaging 0.88
R7261:Spag16 UTSW 1 70299621 missense possibly damaging 0.56
R7358:Spag16 UTSW 1 69844367 missense probably benign 0.00
R7431:Spag16 UTSW 1 69923872 missense unknown
R7508:Spag16 UTSW 1 69887520 missense possibly damaging 0.93
R7566:Spag16 UTSW 1 69870328 missense probably damaging 1.00
R7570:Spag16 UTSW 1 69996841 missense probably benign 0.00
Predicted Primers
Posted On2014-01-15