|Institutional Source||Beutler Lab|
|Gene Name||NCK associated protein 1 like|
|Is this an essential gene?||Possibly essential (E-score: 0.662)|
|Stock #||R0412 (G1)|
|Chromosomal Location||103453794-103498810 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 103464652 bp|
|Amino Acid Change||Serine to Cysteine at position 311 (S311C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035400 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047405] [ENSMUST00000229127]|
|Predicted Effect||probably benign
AA Change: S311C
PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
AA Change: S311C
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.068|
|Coding Region Coverage||
|Validation Efficiency||94% (67/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit anemia, lymphopenia, neutrophilia and tissue-specific pathology, defective neutrophil migration, phagocytosis and F-actin polymerization, abnormal B and T cell development, impaired T cell activation and adhesion, and enhanced IL-17 production. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nckap1l||
(F):5'- AGATGGCCTGTGAGTATCTGTCCG -3'
(R):5'- CTCTCTCGAAAACCCAGTGAGGCAC -3'
(F):5'- TCATAAGTAAGTTGTAGGAGCACC -3'
(R):5'- TGAGGCACCAACCAAGAGTAG -3'