Incidental Mutation 'IGL03338:Spag11b'
ID 417095
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 # IGL03338
Quality Score
Status
Chromosome 8
Chromosomal Location 19190775-19193026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 19191426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 33 (T33I)
Ref Sequence ENSEMBL: ENSMUSP00000048125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039075] [ENSMUST00000110767] [ENSMUST00000212226] [ENSMUST00000212965]
AlphaFold Q8K4N2
Predicted Effect probably damaging
Transcript: ENSMUST00000039075
AA Change: T33I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048125
Gene: ENSMUSG00000059463
AA Change: T33I

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: T34I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106395
Gene: ENSMUSG00000059463
AA Change: T34I

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,744,153 (GRCm39) V260M probably damaging Het
Accsl T A 2: 93,686,092 (GRCm39) H575L probably benign Het
Armc3 A T 2: 19,253,512 (GRCm39) I218F possibly damaging Het
Bora C A 14: 99,310,178 (GRCm39) N502K probably damaging Het
Brd4 T A 17: 32,432,046 (GRCm39) D606V probably damaging Het
Ccdc190 T A 1: 169,757,544 (GRCm39) M1K probably null Het
Ccl25 T C 8: 4,399,898 (GRCm39) probably benign Het
Cep78 G T 19: 15,936,987 (GRCm39) T573K probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cntn4 C T 6: 106,632,550 (GRCm39) H525Y probably damaging Het
D630039A03Rik T C 4: 57,910,509 (GRCm39) E101G probably benign Het
Dnah2 A G 11: 69,387,403 (GRCm39) V941A probably benign Het
Exoc6b A G 6: 84,821,112 (GRCm39) I559T probably damaging Het
Fmr1 T C X: 67,731,942 (GRCm39) probably null Het
Ghr A T 15: 3,377,024 (GRCm39) C66S probably damaging Het
Hook1 C A 4: 95,886,929 (GRCm39) probably benign Het
Igsf1 T C X: 48,876,376 (GRCm39) T73A probably benign Het
Ipo8 T C 6: 148,701,755 (GRCm39) K451R probably benign Het
Irs1 A G 1: 82,266,122 (GRCm39) V698A probably benign Het
Kat2a T C 11: 100,602,301 (GRCm39) D151G probably benign Het
Lyrm1 A T 7: 119,513,469 (GRCm39) Q78L probably benign Het
Madd C T 2: 90,992,507 (GRCm39) G1012E possibly damaging Het
Mboat1 T A 13: 30,320,742 (GRCm39) D31E probably benign Het
Myh8 C A 11: 67,189,172 (GRCm39) A1116D probably damaging Het
Nop2 G A 6: 125,116,695 (GRCm39) probably null Het
Notch1 A G 2: 26,349,971 (GRCm39) S2390P probably benign Het
Or10ag57 T G 2: 87,218,470 (GRCm39) N140K probably benign Het
Or52z14 T A 7: 103,253,615 (GRCm39) C251* probably null Het
Or6c66b A G 10: 129,376,925 (GRCm39) D173G probably damaging Het
Pigg T C 5: 108,467,816 (GRCm39) S272P probably damaging Het
Plg A G 17: 12,637,959 (GRCm39) Y795C probably damaging Het
Polr3e A G 7: 120,536,843 (GRCm39) K335R probably benign Het
Pramel13 T A 4: 144,121,397 (GRCm39) Y209F probably benign Het
Pramel24 T C 4: 143,453,312 (GRCm39) I140T probably benign Het
Pramel28 T C 4: 143,692,411 (GRCm39) I197V probably benign Het
Pramel28 T A 4: 143,692,608 (GRCm39) Q131L probably benign Het
Prdm4 A T 10: 85,743,685 (GRCm39) M190K possibly damaging Het
Prex2 T A 1: 11,210,489 (GRCm39) F597L probably benign Het
Ranbp3l A G 15: 9,060,940 (GRCm39) E403G probably damaging Het
Rgmb C T 17: 16,027,565 (GRCm39) A385T possibly damaging Het
Scn4a T A 11: 106,211,671 (GRCm39) I1449F probably damaging Het
Slc17a9 T C 2: 180,382,311 (GRCm39) probably benign Het
Slc26a2 T C 18: 61,331,974 (GRCm39) I486V probably damaging Het
Sntn A T 14: 13,678,991 (GRCm38) D55V probably damaging Het
Snx25 T A 8: 46,498,247 (GRCm39) R595S probably benign Het
Sval2 A G 6: 41,841,181 (GRCm39) I81M probably damaging Het
Tab2 A G 10: 7,795,039 (GRCm39) V481A probably damaging Het
Zfp867 G A 11: 59,355,003 (GRCm39) Q109* probably null Het
Zfp935 T C 13: 62,602,247 (GRCm39) T318A probably benign 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
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 2016-08-02