Incidental Mutation 'R6131:Spag16'
ID 501813
Institutional Source Beutler Lab
Gene Symbol Spag16
Ensembl Gene ENSMUSG00000053153
Gene Name sperm associated antigen 16
Synonyms 4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik
MMRRC Submission 044278-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R6131 (G1)
Quality Score 138.008
Status Validated
Chromosome 1
Chromosomal Location 69866129-70764291 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 70764242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000069821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053922] [ENSMUST00000065425] [ENSMUST00000161937] [ENSMUST00000162182]
AlphaFold Q8K450
Predicted Effect probably benign
Transcript: ENSMUST00000053922
SMART Domains Protein: ENSMUSP00000058142
Gene: ENSMUSG00000045648

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWC 53 109 4.18e0 SMART
VWC 116 171 2.49e-5 SMART
Predicted Effect probably null
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 noncoding transcript
Transcript: ENSMUST00000159205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161310
Predicted Effect probably benign
Transcript: ENSMUST00000161937
SMART Domains Protein: ENSMUSP00000125014
Gene: ENSMUSG00000045648

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:VWC_def 53 109 2e-35 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000162182
SMART Domains Protein: ENSMUSP00000123819
Gene: ENSMUSG00000045648

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:VWC_def 33 62 4e-12 BLAST
VWC 69 124 2.49e-5 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 96% (50/52)
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
5031439G07Rik A T 15: 84,844,793 (GRCm39) W75R probably damaging Het
Aadacl2fm3 A G 3: 59,776,324 (GRCm39) K165R possibly damaging Het
Abca15 T C 7: 119,939,428 (GRCm39) V274A probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ap1m2 T C 9: 21,207,797 (GRCm39) Y396C probably damaging Het
Apob T C 12: 8,065,874 (GRCm39) S405P probably benign Het
Arhgap26 G T 18: 39,419,638 (GRCm39) G533* probably null Het
Atxn2l T C 7: 126,102,337 (GRCm39) probably benign Het
Ccdc88c A T 12: 100,907,387 (GRCm39) L995H probably damaging Het
Ccn3 A G 15: 54,612,756 (GRCm39) D255G probably benign Het
Cep192 A G 18: 67,971,068 (GRCm39) H1023R possibly damaging Het
Cog5 T A 12: 31,936,220 (GRCm39) M589K possibly damaging Het
Col25a1 C A 3: 130,329,114 (GRCm39) P337Q probably damaging Het
Cyfip1 T G 7: 55,523,228 (GRCm39) V51G possibly damaging Het
Dnah7b A T 1: 46,292,626 (GRCm39) I3004F probably damaging Het
Dsg3 A T 18: 20,671,569 (GRCm39) D758V probably damaging Het
Dsg3 A G 18: 20,653,534 (GRCm39) probably null Het
Eml5 A T 12: 98,827,510 (GRCm39) H573Q probably damaging Het
Erp27 T C 6: 136,885,201 (GRCm39) D199G probably damaging Het
Flnb A G 14: 7,894,635 (GRCm38) Y811C possibly damaging Het
G6pd2 A T 5: 61,966,593 (GRCm39) S123C probably benign Het
Gm1818 T A 12: 48,602,319 (GRCm39) noncoding transcript Het
Gm29340 C T 2: 116,798,519 (GRCm39) noncoding transcript Het
H2bc7 C A 13: 23,758,310 (GRCm39) probably benign Het
Hcn2 G T 10: 79,569,742 (GRCm39) G581W probably damaging Het
Kidins220 T C 12: 25,042,313 (GRCm39) probably null Het
Lonp1 T C 17: 56,921,457 (GRCm39) E926G probably benign Het
Lrp1 T C 10: 127,396,026 (GRCm39) I2415V probably benign Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Mmp10 A G 9: 7,503,633 (GRCm39) probably null Het
Myo16 T A 8: 10,619,877 (GRCm39) I1476N probably benign Het
Nectin3 G T 16: 46,215,515 (GRCm39) H76N probably damaging Het
Nphs2 G A 1: 156,153,521 (GRCm39) R204Q probably damaging Het
Or5ac15 T C 16: 58,940,256 (GRCm39) Y59C probably damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8b53 T A 9: 38,667,362 (GRCm39) I126N probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pate10 T A 9: 35,652,840 (GRCm39) C27* probably null Het
Psme2b T C 11: 48,836,752 (GRCm39) D65G probably damaging Het
Rlf T C 4: 121,012,172 (GRCm39) K214E probably damaging Het
Rnasel A T 1: 153,630,206 (GRCm39) T241S probably damaging Het
Samd9l C G 6: 3,377,252 (GRCm39) G3A probably benign Het
Smg7 A G 1: 152,720,962 (GRCm39) probably null Het
Spata31d1c T A 13: 65,183,485 (GRCm39) D342E probably benign Het
Stab2 A G 10: 86,719,642 (GRCm39) probably null Het
Taar7b A T 10: 23,876,615 (GRCm39) Y260F probably benign Het
Vcpip1 T C 1: 9,817,517 (GRCm39) I289V probably damaging Het
Vmn2r130 C T 17: 23,282,629 (GRCm39) A103V probably benign Het
Vmn2r39 A G 7: 9,017,963 (GRCm39) V791A probably damaging Het
Vmn2r66 T A 7: 84,644,224 (GRCm39) I729F probably damaging Het
Zfp536 T A 7: 37,269,137 (GRCm39) D93V 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
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'- ACAGTGTGGTGTTTTCCCAC -3'
(R):5'- TTCATCTAGTCTGTCATTAGGCGTC -3'

Sequencing Primer
(F):5'- CCACCTGGGGGAAAATCTGTATTC -3'
(R):5'- CTGTCATTAGGCGTCATTGTAAAGC -3'
Posted On 2017-12-04