Incidental Mutation 'R9704:Spag11b'
ID 729711
Institutional Source Beutler Lab
Gene Symbol Spag11b
Ensembl Gene ENSMUSG00000059463
Gene Name sperm associated antigen 11B
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R9704 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 19190775-19193026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19191474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 49 (N49S)
Ref Sequence ENSEMBL: ENSMUSP00000048125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039075] [ENSMUST00000110767] [ENSMUST00000212226] [ENSMUST00000212965]
AlphaFold Q8K4N2
Predicted Effect probably benign
Transcript: ENSMUST00000039075
AA Change: N49S

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000048125
Gene: ENSMUSG00000059463
AA Change: N49S

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: N50S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106395
Gene: ENSMUSG00000059463
AA Change: N50S

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik C T 1: 11,588,913 (GRCm39) P110L probably damaging Het
Aass C A 6: 23,120,887 (GRCm39) V126F possibly damaging Het
Adamts13 G T 2: 26,895,237 (GRCm39) Q1109H Het
Ccdc57 A C 11: 120,764,531 (GRCm39) V748G probably damaging Het
Dclk2 A G 3: 86,827,387 (GRCm39) S31P possibly damaging Het
Dnah5 C G 15: 28,247,965 (GRCm39) P701A probably benign Het
Epc1 T C 18: 6,440,130 (GRCm39) T642A probably damaging Het
Fam149a G A 8: 45,795,502 (GRCm39) R670W probably benign Het
Fgfr1 A G 8: 26,063,579 (GRCm39) D646G probably benign Het
Gabrr2 G A 4: 33,063,305 (GRCm39) V43M possibly damaging Het
Gli3 T A 13: 15,898,058 (GRCm39) C713S probably damaging Het
Hectd4 A T 5: 121,448,744 (GRCm39) Y364F probably benign Het
Hk3 A G 13: 55,160,253 (GRCm39) probably null Het
Ighv2-9 T A 12: 113,842,746 (GRCm39) D107V possibly damaging Het
Jak2 C A 19: 29,275,730 (GRCm39) C723* probably null Het
Lcor T C 19: 41,572,498 (GRCm39) S418P possibly damaging Het
Lnx1 A T 5: 74,780,879 (GRCm39) V214E probably benign Het
Luzp1 T A 4: 136,268,604 (GRCm39) S276T probably benign Het
Meig1 A G 2: 3,410,336 (GRCm39) Y55H probably damaging Het
Myh2 A T 11: 67,071,617 (GRCm39) Q478L possibly damaging Het
Ngef G A 1: 87,431,010 (GRCm39) P269L probably damaging Het
Nxph2 T C 2: 23,289,723 (GRCm39) V25A probably benign Het
Onecut1 G A 9: 74,770,258 (GRCm39) G227D probably benign Het
Phf2 G T 13: 48,959,374 (GRCm39) D877E unknown Het
Pik3cd C A 4: 149,739,839 (GRCm39) R548L probably benign Het
Pp2d1 T C 17: 53,822,907 (GRCm39) E53G probably benign Het
Rtel1 C T 2: 180,993,905 (GRCm39) Q830* probably null Het
Ryr2 T C 13: 11,737,646 (GRCm39) Y2219C probably damaging Het
Srd5a1 T A 13: 69,743,086 (GRCm39) I167F probably damaging Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,278,612 (GRCm39) probably benign Het
Sv2b T G 7: 74,797,420 (GRCm39) M325L possibly damaging Het
Tpsb2 A G 17: 25,585,834 (GRCm39) I57M probably benign Het
Ttf2 T C 3: 100,859,920 (GRCm39) E678G probably damaging Het
Ulk2 A G 11: 61,716,694 (GRCm39) F270S probably damaging Het
Unc13b G A 4: 43,237,102 (GRCm39) V603I 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
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
Predicted Primers PCR Primer
(F):5'- GTCAAGCCTCACTCATTGTTG -3'
(R):5'- AGGATCCAGTTTCAGCAGAAGC -3'

Sequencing Primer
(F):5'- CAAGCCTCACTCATTGTTGAAACTTG -3'
(R):5'- CTGACATCTCGGGAAGACTG -3'
Posted On 2022-10-06