|Institutional Source||Beutler Lab|
|Gene Name||SH2 domain containing 3C|
|Synonyms||Chat, Cas/HEF1-associated signal transducer, Nsp3, Shep1, SH2-containing Eph receptor-binding protein 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7047 (G1)|
|Chromosomal Location||32721055-32755512 bp(+) (GRCm38)|
|Type of Mutation||start codon destroyed|
|DNA Base Change (assembly)||T to C at 32721160 bp|
|Amino Acid Change||Methionine to Threonine at position 1 (M1T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000073866 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000074248]|
|Predicted Effect||probably null
AA Change: M1T
PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
AA Change: M1T
|Meta Mutation Damage Score||0.33|
|Coding Region Coverage||
|Validation Efficiency||98% (53/54)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adaptor protein and member of a cytoplasmic protein family involved in cell migration. The encoded protein contains a putative Src homology 2 (SH2) domain and guanine nucleotide exchange factor-like domain which allows this signaling protein to form a complex with scaffolding protein Crk-associated substrate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality with absence of gastric milk. Surviving mice exhibit abnormal olfactory bulb innervation, fewer gonadotrophin positive cells in the hypothalamus, and decreased testes size. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sh2d3c||
(F):5'- CCTTCTAGGTCCCAAGGGTTTG -3'
(R):5'- CCACAGCATGTGCAGATAGC -3'
(F):5'- CCCAAGGGTTTGCGGTG -3'
(R):5'- GATAGCAACACCAACACCGAGG -3'