Incidental Mutation 'IGL01349:Spag11b'
ID 75256
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 # IGL01349
Quality Score
Status
Chromosome 8
Chromosomal Location 19190775-19193026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19191492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 55 (H55L)
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: H55L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048125
Gene: ENSMUSG00000059463
AA Change: H55L

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: H56L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106395
Gene: ENSMUSG00000059463
AA Change: H56L

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,242,076 (GRCm39) S1313L probably benign Het
Adam28 T C 14: 68,848,455 (GRCm39) H667R probably benign Het
Arap1 T C 7: 101,036,359 (GRCm39) V382A possibly damaging Het
Arih2 T C 9: 108,482,609 (GRCm39) Y444C probably damaging Het
Asxl3 T G 18: 22,657,294 (GRCm39) V1768G probably benign Het
Bbs9 T A 9: 22,798,979 (GRCm39) M869K probably benign Het
C4bp A G 1: 130,570,665 (GRCm39) probably benign Het
Cc2d2a A T 5: 43,881,126 (GRCm39) Y1167F probably benign Het
Cgn T A 3: 94,674,486 (GRCm39) K884* probably null Het
Chd1l T C 3: 97,498,550 (GRCm39) Y283C probably benign Het
Cry1 A G 10: 84,984,603 (GRCm39) V157A probably benign Het
Dcc T A 18: 71,503,808 (GRCm39) D950V probably damaging Het
Dlc1 A G 8: 37,050,978 (GRCm39) F918L probably damaging Het
Dnah2 T C 11: 69,366,432 (GRCm39) N1890S probably damaging Het
Dnah5 A G 15: 28,295,059 (GRCm39) probably benign Het
Eif4b C T 15: 101,999,858 (GRCm39) T412I probably benign Het
Eloa A C 4: 135,741,758 (GRCm39) Y29D probably benign Het
Erbb4 A G 1: 68,385,752 (GRCm39) F279S probably benign Het
Etl4 A G 2: 20,718,207 (GRCm39) D316G probably damaging Het
Gm5114 T C 7: 39,058,531 (GRCm39) S363G probably benign Het
Gpam A G 19: 55,084,551 (GRCm39) probably null Het
Il17rd T A 14: 26,817,901 (GRCm39) S197T probably damaging Het
Iqsec3 T C 6: 121,450,083 (GRCm39) E147G possibly damaging Het
Itk T A 11: 46,232,027 (GRCm39) T303S possibly damaging Het
Kcnh6 A G 11: 105,914,743 (GRCm39) D716G possibly damaging Het
Lca5 A G 9: 83,308,670 (GRCm39) S59P probably damaging Het
Lrrc40 T C 3: 157,764,302 (GRCm39) probably benign Het
Mmp7 T C 9: 7,699,335 (GRCm39) probably benign Het
Mycbp2 T C 14: 103,359,983 (GRCm39) T4427A probably damaging Het
Nf2 T C 11: 4,734,472 (GRCm39) D513G possibly damaging Het
Or2y1b T A 11: 49,209,127 (GRCm39) Y251* probably null Het
Pde7a C T 3: 19,283,843 (GRCm39) probably benign Het
Pira2 T C 7: 3,847,138 (GRCm39) T135A probably damaging Het
Rb1 T C 14: 73,506,558 (GRCm39) Y397C probably damaging Het
Ros1 A T 10: 51,927,122 (GRCm39) M2187K probably damaging Het
Ryr2 T A 13: 11,602,125 (GRCm39) I4586F possibly damaging Het
Serpinb3c A T 1: 107,200,513 (GRCm39) M210K probably damaging Het
Slc22a19 C A 19: 7,651,792 (GRCm39) V472F probably benign Het
Slc4a11 A G 2: 130,528,863 (GRCm39) I462T probably benign Het
Trpv5 G T 6: 41,652,309 (GRCm39) N125K possibly damaging Het
Ubr4 G T 4: 139,208,039 (GRCm39) R4940L unknown Het
Vcan T A 13: 89,852,062 (GRCm39) H966L probably damaging Het
Vmn1r204 T A 13: 22,740,504 (GRCm39) I45K probably damaging Het
Vnn3 A T 10: 23,727,814 (GRCm39) I75F probably damaging Het
Vps13b A T 15: 35,794,091 (GRCm39) M2256L probably benign Het
Zfc3h1 T A 10: 115,259,353 (GRCm39) L1642M probably 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
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 2013-10-07