|Institutional Source||Beutler Lab|
|Gene Name||nucleus accumbens associated 1, BEN and BTB (POZ) domain containing|
|Synonyms||Btbd14b, 2010001H03Rik, 4930511N13Rik, Nac1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5428 (G1)|
|Chromosomal Location||84670483-84687862 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 84676154 bp|
|Amino Acid Change||Isoleucine to Valine at position 337 (I337V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001975 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001975]|
|Predicted Effect||probably damaging
AA Change: I337V
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: I337V
|Meta Mutation Damage Score||0.158|
|Coding Region Coverage||
|Validation Efficiency||98% (62/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance. The encoded protein also suppresses transcription of the candidate tumor suppressor Gadd45GIP1, and expression of this gene may play a role in the progression of multiple types of cancer. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased sensitivity to cocaine and amphetamine. Mice homozygous for a different knock-out allele exhibit thoracic vertebral transformation and loss of the sixth lumbar vertebrae with decreaed rib number and reduced chondrocyte migration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nacc1||
(F):5'- GGGCATCTGCTACTAAGAGTTG -3'
(R):5'- GTATGTTGAACGTTGGCCAG -3'
(F):5'- CTGCTACTAAGAGTTGTACAAATGGG -3'
(R):5'- TTGAACGTTGGCCAGACAGG -3'