|Institutional Source||Beutler Lab|
|Gene Name||NCK associated protein 1 like|
|Is this an essential gene?||Probably essential (E-score: 0.787)|
|Stock #||R8124 (G1)|
|Chromosomal Location||103453794-103498810 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 103473821 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 481 (D481G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035400 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047405] [ENSMUST00000229127]|
|Predicted Effect||possibly damaging
AA Change: D481G
PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: D481G
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1712|
|Coding Region Coverage||
|Validation Efficiency||98% (51/52)|
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'- AAGCAGCAGAGCTCTTACG -3'
(R):5'- AGATGAAGCTGAGCCTCAGG -3'
(F):5'- CTTACGAGGCTGACACAGGTTTC -3'
(R):5'- TCAGGGCTACCATCTGATCTGG -3'