Incidental Mutation 'IGL02117:Spag16'
ID280422
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spag16
Ensembl Gene ENSMUSG00000053153
Gene Namesperm associated antigen 16
Synonyms4930585K05Rik, Pf20, 4930524F24Rik, Wdr29, 4921511D23Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.220) question?
Stock #IGL02117
Quality Score
Status
Chromosome1
Chromosomal Location69826970-70725132 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 69870320 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 192 (H192L)
Ref Sequence ENSEMBL: ENSMUSP00000109573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065425] [ENSMUST00000113940]
Predicted Effect probably damaging
Transcript: ENSMUST00000065425
AA Change: H192L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069821
Gene: ENSMUSG00000053153
AA Change: H192L

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: H192L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109573
Gene: ENSMUSG00000053153
AA Change: H192L

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T A 2: 151,473,546 M71L probably benign Het
Abcb11 A G 2: 69,323,825 probably benign Het
Ago4 T C 4: 126,516,852 T249A probably benign Het
Ahr A T 12: 35,512,923 C92* probably null Het
Arhgap17 G A 7: 123,286,773 probably benign Het
Arid1a G T 4: 133,692,815 T992K unknown Het
Camk2a A G 18: 60,977,989 I83M probably damaging Het
Ccdc154 T C 17: 25,167,818 probably null Het
Chtf18 T C 17: 25,722,203 H607R possibly damaging Het
Col25a1 T C 3: 130,519,773 probably benign Het
Col9a1 C T 1: 24,237,493 Q530* probably null Het
Cryl1 G T 14: 57,286,447 D219E probably damaging Het
Cul3 A T 1: 80,323,064 probably benign Het
Cul9 C A 17: 46,540,375 R373L probably benign Het
Exo1 A G 1: 175,893,743 Y316C possibly damaging Het
Fam114a1 G A 5: 65,030,122 V408M probably benign Het
Hmcn2 A T 2: 31,457,173 S4792C possibly damaging Het
Hps5 A G 7: 46,783,516 F260S probably damaging Het
Hrh4 T C 18: 13,022,420 S339P probably benign Het
Ist1 A T 8: 109,678,952 L152Q probably damaging Het
Marco A G 1: 120,490,954 V190A probably benign Het
Mdn1 T C 4: 32,709,364 V1711A probably benign Het
Mmp9 A G 2: 164,949,724 Y179C probably damaging Het
Mrgprb5 A G 7: 48,168,994 probably benign Het
Mrgprx1 G T 7: 48,021,623 C125* probably null Het
Msh6 A G 17: 87,990,806 probably benign Het
Myot C A 18: 44,355,110 R441S probably benign Het
Olfr740 A G 14: 50,453,942 R297G possibly damaging Het
Paf1 A G 7: 28,398,690 probably benign Het
Pde11a A G 2: 75,991,262 L891P probably damaging Het
Prkar2a T A 9: 108,719,261 I135N probably damaging Het
Rap1gap C T 4: 137,727,044 T646M probably damaging Het
Rgs7bp T C 13: 104,951,579 D229G possibly damaging Het
Rhobtb3 C T 13: 75,877,428 S523N probably damaging Het
Setd7 A T 3: 51,521,405 Y335N probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Socs4 T C 14: 47,290,807 Y400H probably damaging Het
Ssh1 A T 5: 113,946,480 C566* probably null Het
Stap1 T G 5: 86,086,693 I98S possibly damaging Het
Tgs1 C T 4: 3,585,836 H238Y probably damaging Het
Tifab T C 13: 56,176,462 Y56C probably benign Het
Tssk2 A G 16: 17,899,789 E352G probably benign Het
Vmn2r57 A T 7: 41,400,450 V625D probably benign Het
Wbp1l T C 19: 46,644,437 Y75H probably benign Het
Wnt5a T C 14: 28,506,120 probably benign 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
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
R1178:Spag16 UTSW 1 69923658 splice site probably benign
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
R7298:Spag16 UTSW 1 69919426 intron probably null
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
R7598:Spag16 UTSW 1 69870308 missense probably damaging 1.00
Posted On2015-04-16