|Institutional Source||Beutler Lab|
|Gene Name||cysteine rich transmembrane BMP regulator 1 (chordin like)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1679 (G1)|
|Chromosomal Location||78200248-78376592 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 78200799 bp|
|Amino Acid Change||Alanine to Threonine at position 11 (A11T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000108117 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000112498]|
|Predicted Effect||probably benign
AA Change: A11T
PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: A11T
|Meta Mutation Damage Score||0.0658|
|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 transmembrane protein containing six cysteine-rich repeat domains and an insulin-like growth factor-binding domain. The encoded protein may play a role in tissue development though interactions with members of the transforming growth factor beta family, such as bone morphogenetic proteins. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mutations in this locus cause perinatal lethality, syndactyly, and eye and kidney abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Crim1||
(F):5'- TTTCCCCGGCAATCAGGAGCAG -3'
(R):5'- ACATGTAGCAGCAGCCGCAGAC -3'
(F):5'- CCAGAAGTTTGGGTTGAACCG -3'
(R):5'- AGACGCCCTGCACGATG -3'