|Institutional Source||Beutler Lab|
|Gene Name||deleted in malignant brain tumors 1|
|Synonyms||CRP-[a], Crpd, gp300, vomeroglandin, CRP-[b], ebnerin, MUCLIN, hensin|
|Is this an essential gene?||Possibly non essential (E-score: 0.265)|
|Stock #||R6188 (G1)|
|Chromosomal Location||131032053-131121630 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 131097631 bp|
|Amino Acid Change||Asparagine to Tyrosine at position 997 (N997Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000148657 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000084509] [ENSMUST00000124096] [ENSMUST00000208311] [ENSMUST00000213064]|
AA Change: N1160Y
AA Change: N1160Y
|Predicted Effect||probably benign
AA Change: N1171Y
|Predicted Effect||probably damaging
AA Change: N997Y
PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|Meta Mutation Damage Score||0.7817|
|Coding Region Coverage||
|Validation Efficiency||98% (61/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. This gene was originally isolated based on its deletion in a medulloblastoma cell line. This gene is expressed with transcripts of 6.0, 7.5, and 8.0 kb in fetal lung and with one transcript of 8.0 kb in adult lung, although the 7.5 kb transcript has not been characterized. The encoded protein precursor is a glycoprotein containing multiple scavenger receptor cysteine-rich (SRCR) domains separated by SRCR-interspersed domains (SID). Transcript variant 2 (8.0 kb) has been shown to bind surfactant protein D independently of carbohydrate recognition. This indicates that DMBT1 may not be a classical tumor suppressor gene, but rather play a role in the interaction of tumor cells and the immune system. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for one null allele display embryonic lethality and an abnormal inner cell mass. Mice homozygous for a different null allele are viable and fertile with an increased susceptibility to induced colitis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dmbt1||
(F):5'- ATTGCCCCTGGTTGTAAGCTG -3'
(R):5'- ACAATCTGGGGCTATAAGACAG -3'
(F):5'- AGCTGTGCATTATGATCCAGC -3'
(R):5'- CTTGTGCTTTAGCACCCA -3'