|Institutional Source||Beutler Lab|
|Gene Name||protein disulfide isomerase-like, testis expressed|
|Is this an essential gene?||Probably non essential (E-score: 0.115)|
|Stock #||R1612 (G1)|
|Chromosomal Location||119486587-119523489 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 119486975 bp|
|Amino Acid Change||Asparagine to Histidine at position 506 (N506H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033267 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033267] [ENSMUST00000208275]|
|Predicted Effect||possibly damaging
AA Change: N506H
PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: N506H
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1397|
|Coding Region Coverage||
|Validation Efficiency||97% (69/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has has an N-terminal ER-signal sequence, two thioredoxin (TRX) domains with non-classical Ser-Lys-Gln-Ser and Ser-Lys-Lys-Cys motifs, respectively, two TRX-like domains, and a C-terminal ER-retention sequence. The protein lacks oxidoreductase activity in vitro and probably functions as a chaperone. This gene's expression appears to be limited to the testis. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility and abnormal sperm physiology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pdilt||
(F):5'- CCTGGCTGAATTCCAGACCAAGTG -3'
(R):5'- TCCCCTCTGTCAAAAGGGTCAAAAC -3'
(F):5'- AGACCAAGTGGCTCTTCCAG -3'
(R):5'- GGGCTGAGCCAGAACAGAATTA -3'