|Institutional Source||Beutler Lab|
|Gene Name||goosecoid homeobox|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7624 (G1)|
|Chromosomal Location||104471209-104473330 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 104473051 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 22 (V22E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021513 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021513]|
|Predicted Effect||possibly damaging
AA Change: V22E
PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: V22E
|Coding Region Coverage||
|Validation Efficiency||99% (69/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit craniofacial abnormalities affecting the mandible, nasal cavities and pits, tongue, and inner ear, and skeletal defects involving ribs, sternum, shoulder and hip. Mutants die neonatally. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gsc||
(F):5'- CTGCCCGTAGAAGTAGCTGTTG -3'
(R):5'- AACAAGAGGTTGAGCCGGTC -3'
(F):5'- GTAGTCCGAGGAGGTGC -3'
(R):5'- TGAGTTCAGCTAGGCGGC -3'