Incidental Mutation 'R4126:Spag11b'
ID 315401
Institutional Source Beutler Lab
Gene Symbol Spag11b
Ensembl Gene ENSMUSG00000059463
Gene Name sperm associated antigen 11B
Synonyms
MMRRC Submission 041634-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R4126 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 19190775-19193026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19191395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 23 (S23P)
Ref Sequence ENSEMBL: ENSMUSP00000048125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039075] [ENSMUST00000110767] [ENSMUST00000212226] [ENSMUST00000212965]
AlphaFold Q8K4N2
Predicted Effect possibly damaging
Transcript: ENSMUST00000039075
AA Change: S23P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000048125
Gene: ENSMUSG00000059463
AA Change: S23P

DomainStartEndE-ValueType
Pfam:Sperm_Ag_HE2 5 72 3.7e-35 PFAM
Pfam:Defensin_beta 76 110 2.2e-8 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000110767
AA Change: S24P
SMART Domains Protein: ENSMUSP00000106395
Gene: ENSMUSG00000059463
AA Change: S24P

DomainStartEndE-ValueType
Pfam:Sperm_Ag_HE2 3 74 2.1e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212226
Predicted Effect probably benign
Transcript: ENSMUST00000212965
Meta Mutation Damage Score 0.7184 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 89% (33/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes several androgen-dependent, epididymis-specific secretory proteins. The specific functions of these proteins have not been determined, but they are thought to be involved in sperm maturation. Some of the isoforms contain regions of similarity to beta-defensins, a family of antimicrobial peptides. The gene is located on chromosome 8p23 near the defensin gene cluster. Alternative splicing of this gene results in seven transcript variants encoding different isoforms. Two different N-terminal and five different C-terminal protein sequences are encoded by the splice variants. Two additional variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat T A 8: 60,984,703 (GRCm39) W249R probably benign Het
Ank G A 15: 27,590,459 (GRCm39) V348I probably benign Het
Atad3a A T 4: 155,838,518 (GRCm39) probably benign Het
Bbox1 A G 2: 110,100,525 (GRCm39) V224A probably benign Het
Cdk5rap1 A G 2: 154,210,815 (GRCm39) C108R probably damaging Het
Cds2 A G 2: 132,139,191 (GRCm39) T145A probably benign Het
Celsr2 G T 3: 108,309,413 (GRCm39) A1614D possibly damaging Het
Chd9 A G 8: 91,777,912 (GRCm39) D2641G probably damaging Het
E2f8 T C 7: 48,525,355 (GRCm39) I206V probably damaging Het
Glyat G T 19: 12,628,843 (GRCm39) V213F probably benign Het
Gpatch1 C T 7: 34,993,079 (GRCm39) probably null Het
Jarid2 T C 13: 45,055,732 (GRCm39) S313P probably damaging Het
Kcnc1 T C 7: 46,047,426 (GRCm39) Y109H probably damaging Het
Kif12 C T 4: 63,084,674 (GRCm39) S548N probably benign Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myrip C A 9: 120,293,764 (GRCm39) S753* probably null Het
Naalad2 T C 9: 18,258,766 (GRCm39) Y503C probably damaging Het
Nid1 T C 13: 13,650,957 (GRCm39) V498A probably damaging Het
Or8k25 A T 2: 86,243,568 (GRCm39) I276N probably damaging Het
Parp8 C A 13: 117,005,005 (GRCm39) K685N possibly damaging Het
Prr14l G T 5: 32,985,347 (GRCm39) H1383N probably damaging Het
Pxn A G 5: 115,684,966 (GRCm39) R264G probably damaging Het
Slc6a20a G T 9: 123,489,598 (GRCm39) F148L probably damaging Het
Stac C A 9: 111,433,126 (GRCm39) probably null Het
Taf11 T C 17: 28,120,746 (GRCm39) K175E possibly damaging Het
Tll1 T C 8: 64,571,048 (GRCm39) R175G possibly damaging Het
Trip11 G A 12: 101,861,957 (GRCm39) Q203* probably null Het
Usp4 T C 9: 108,237,316 (GRCm39) V128A probably benign Het
Zfp788 T C 7: 41,298,860 (GRCm39) F479L probably damaging Het
Zmiz1 T G 14: 25,657,354 (GRCm39) S877A possibly damaging Het
Other mutations in Spag11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00826:Spag11b APN 8 19,191,423 (GRCm39) missense possibly damaging 0.93
IGL00924:Spag11b APN 8 19,192,656 (GRCm39) missense probably damaging 1.00
IGL01349:Spag11b APN 8 19,191,492 (GRCm39) missense probably damaging 0.98
IGL03338:Spag11b APN 8 19,191,426 (GRCm39) missense probably damaging 1.00
R9704:Spag11b UTSW 8 19,191,474 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- GGCACATTTCTTCACATGCCAC -3'
(R):5'- ACATGCGCTCAGTATTTCCC -3'

Sequencing Primer
(F):5'- ACATTTCTTCACATGCCACTCTTTC -3'
(R):5'- GCTCAGTATTTCCCAAGTGGATGAAC -3'
Posted On 2015-05-14