Incidental Mutation 'IGL00924:Spag11b'
ID28024
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spag11b
Ensembl Gene ENSMUSG00000059463
Gene Namesperm associated antigen 11B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #IGL00924
Quality Score
Status
Chromosome8
Chromosomal Location19140759-19143010 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 19142640 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 78 (V78D)
Ref Sequence ENSEMBL: ENSMUSP00000048125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039075] [ENSMUST00000110767] [ENSMUST00000212226] [ENSMUST00000212965]
Predicted Effect probably damaging
Transcript: ENSMUST00000039075
AA Change: V78D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048125
Gene: ENSMUSG00000059463
AA Change: V78D

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

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A G 1: 59,215,862 V112A probably benign Het
Atp1a4 T A 1: 172,246,772 I305F probably damaging Het
AW209491 A G 13: 14,637,075 N171S probably damaging Het
Bank1 G T 3: 136,247,634 A120E probably damaging Het
Bdp1 T A 13: 100,097,579 E206D possibly damaging Het
Brd1 T C 15: 88,729,409 K428E possibly damaging Het
C530008M17Rik A G 5: 76,858,986 T1065A unknown Het
Ccdc42 A G 11: 68,594,621 I191V probably benign Het
Coa7 G T 4: 108,338,308 G145C possibly damaging Het
Cpm T G 10: 117,676,066 I305S probably damaging Het
Dlc1 A T 8: 36,938,214 S140R probably benign Het
Dnajc14 A G 10: 128,817,319 T674A probably benign Het
Dnajc7 A G 11: 100,584,285 I437T possibly damaging Het
Entpd5 A T 12: 84,387,054 V147E probably damaging Het
Gpr139 A G 7: 119,184,287 C30R probably benign Het
Habp4 A G 13: 64,174,071 D174G probably damaging Het
Has3 T C 8: 106,878,599 F479S probably benign Het
Helb T A 10: 120,110,984 K141N probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kdm1b G A 13: 47,068,480 R465H probably benign Het
Lrrc57 A T 2: 120,606,051 M86K possibly damaging Het
Map7d1 A G 4: 126,238,605 V258A probably damaging Het
Mybbp1a T A 11: 72,443,567 F216Y probably damaging Het
Ncan T A 8: 70,108,389 M643L possibly damaging Het
Ngdn T C 14: 55,023,169 I278T probably damaging Het
Olfr1199 T C 2: 88,756,156 D173G possibly damaging Het
Olfr460 C T 6: 40,571,454 R23C probably benign Het
P4hb G T 11: 120,563,818 Q245K probably benign Het
Pcx G A 19: 4,620,937 V1089I probably benign Het
Phc3 A T 3: 30,936,475 M498K probably damaging Het
Pkd1 T A 17: 24,571,627 L1025* probably null Het
Sdhaf2 G A 19: 10,517,016 P110S probably damaging Het
Slc22a20 T C 19: 5,970,516 K538E probably benign Het
Soga1 T G 2: 157,040,705 M476L probably damaging Het
Tgm3 T C 2: 130,038,374 C367R probably damaging Het
Unc5a G A 13: 55,004,514 E741K probably damaging Het
Vmn2r58 A T 7: 41,837,467 L668H probably damaging Het
Wdr62 G A 7: 30,265,218 T367I probably damaging Het
Wdr62 G A 7: 30,242,806 P603S probably damaging Het
Xab2 G A 8: 3,611,723 R577W probably damaging Het
Other mutations in Spag11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00826:Spag11b APN 8 19141407 missense possibly damaging 0.93
IGL01349:Spag11b APN 8 19141476 missense probably damaging 0.98
IGL03338:Spag11b APN 8 19141410 missense probably damaging 1.00
R4126:Spag11b UTSW 8 19141379 missense possibly damaging 0.83
Posted On2013-04-17