Incidental Mutation 'IGL00826:Spag11b'
ID 14194
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spag11b
Ensembl Gene ENSMUSG00000059463
Gene Name sperm associated antigen 11B
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # IGL00826
Quality Score
Status
Chromosome 8
Chromosomal Location 19190775-19193026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 19191423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 33 (V33G)
Ref Sequence ENSEMBL: ENSMUSP00000106395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039075] [ENSMUST00000110767] [ENSMUST00000212226] [ENSMUST00000212965]
AlphaFold Q8K4N2
Predicted Effect probably benign
Transcript: ENSMUST00000039075
AA Change: V32G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048125
Gene: ENSMUSG00000059463
AA Change: V32G

DomainStartEndE-ValueType
Pfam:Sperm_Ag_HE2 5 72 3.7e-35 PFAM
Pfam:Defensin_beta 76 110 2.2e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110767
AA Change: V33G

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106395
Gene: ENSMUSG00000059463
AA Change: V33G

DomainStartEndE-ValueType
Pfam:Sperm_Ag_HE2 3 74 2.1e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212226
Predicted Effect probably benign
Transcript: ENSMUST00000212965
Coding Region Coverage
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T G 8: 111,766,932 (GRCm39) S105A probably damaging Het
Adamtsl1 C T 4: 86,075,041 (GRCm39) P136L probably damaging Het
Akap13 C A 7: 75,327,195 (GRCm39) N376K probably damaging Het
Casp2 T A 6: 42,246,219 (GRCm39) Y192* probably null Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cyp2c68 A G 19: 39,727,949 (GRCm39) Y68H possibly damaging Het
Cyp2j9 A T 4: 96,474,167 (GRCm39) I91K possibly damaging Het
Diablo T C 5: 123,650,751 (GRCm39) I179M probably benign Het
Dnah9 C T 11: 65,880,768 (GRCm39) V2610M probably damaging Het
Dsc2 C T 18: 20,168,372 (GRCm39) A696T probably damaging Het
Eaf2 A T 16: 36,621,038 (GRCm39) M218K probably benign Het
Emc9 G T 14: 55,822,377 (GRCm39) L64I possibly damaging Het
Epb41l2 T C 10: 25,317,620 (GRCm39) S46P probably benign Het
Galnt7 A T 8: 57,993,105 (GRCm39) Y405* probably null Het
Gnl3 A G 14: 30,734,753 (GRCm39) probably benign Het
Map1a A G 2: 121,132,757 (GRCm39) Q1191R possibly damaging Het
Map2k2 G A 10: 80,954,052 (GRCm39) V173I probably benign Het
Nbeal2 A G 9: 110,455,971 (GRCm39) V2408A probably benign Het
Npepps T C 11: 97,126,884 (GRCm39) probably benign Het
Osbpl8 A T 10: 111,108,181 (GRCm39) probably benign Het
Phf12 G T 11: 77,906,332 (GRCm39) R282L probably damaging Het
Phf21a T G 2: 92,174,881 (GRCm39) probably benign Het
Plin2 T C 4: 86,582,683 (GRCm39) N98D possibly damaging Het
Prl7a1 A G 13: 27,824,778 (GRCm39) V19A probably damaging Het
Slfn10-ps T C 11: 82,926,085 (GRCm39) noncoding transcript Het
Trappc13 A T 13: 104,281,016 (GRCm39) S349T probably benign Het
Trim34a T C 7: 103,910,140 (GRCm39) probably null Het
Other mutations in Spag11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4126:Spag11b UTSW 8 19,191,395 (GRCm39) missense possibly damaging 0.83
R9704:Spag11b UTSW 8 19,191,474 (GRCm39) missense probably benign 0.44
Posted On 2012-12-06