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|Institutional Source||Beutler Lab|
|Gene Name||fibrous sheath-interacting protein 2|
|Is this an essential gene?||Probably non essential (E-score: 0.105)|
|Stock #||R4950 (G1)|
|Chromosomal Location||82943634-83008937 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 82946932 bp|
|Amino Acid Change||Histidine to Leucine at position 101 (H101L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000120314 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000136202] [ENSMUST00000143764]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: H101L
PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
AA Change: H101L
|Meta Mutation Damage Score||0.2965|
|Coding Region Coverage||
|Validation Efficiency||100% (58/58)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein associated with the sperm fibrous sheath. Genes encoding most of the fibrous-sheath associated proteins genes are transcribed only during the postmeiotic period of spermatogenesis. The protein encoded by this gene is specific to spermatogenic cells. Copy number variation in this gene may be associated with testicular germ cell tumors. Pseudogenes associated with this gene are reported on chromosomes 2 and X. [provided by RefSeq, Aug 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fsip2||
(F):5'- AGCCTGCTTGAGTAAATCCTCC -3'
(R):5'- GACTGGCTTTCATTAGGGTAAGAAAG -3'
(F):5'- GAGTAAATCCTCCTGTTGCTTG -3'
(R):5'- GCTTTCATTAGGGTAAGAAAGCAAAC -3'