|Institutional Source||Beutler Lab|
|Gene Name||germ cell-less, spermatogenesis associated 1|
|Synonyms||Gcl, mglc-1, 2810049L19Rik|
|Is this an essential gene?||Possibly non essential (E-score: 0.423)|
|Stock #||R5496 (G1)|
|Chromosomal Location||86691768-86733383 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 86697525 bp|
|Amino Acid Change||Alanine to Aspartic acid at position 457 (A457D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001185 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001185]|
|Predicted Effect||probably damaging
AA Change: A457D
PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
AA Change: A457D
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-less gene but the human genome also contains a single-exon locus on chromosome 5 that contains an open reading frame capable of encoding a highly-related protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired nuclear membrane integrity in liver, endocrine pancreas, and testis. Mutant males show reduced fertility with decreased chromatin condensation and morphologically abnormal sperm. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gmcl1||
(F):5'- TTTTAGGAGCATCAGAGACTGC -3'
(R):5'- CCCTTTAAGGCCCTTTACAAAG -3'
(F):5'- TAGGAGCATCAGAGACTGCAAACAC -3'
(R):5'- AAAGGACTCACTTTCTGCGG -3'