Incidental Mutation 'R0069:Nacc1'
ID 33106
Institutional Source Beutler Lab
Gene Symbol Nacc1
Ensembl Gene ENSMUSG00000001910
Gene Name nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
Synonyms Nac1, Btbd14b, 2010001H03Rik, 4930511N13Rik
MMRRC Submission 038360-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0069 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 8
Chromosomal Location 85397106-85414528 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85403828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 16 (I16F)
Ref Sequence ENSEMBL: ENSMUSP00000001975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001975]
AlphaFold Q7TSZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000001975
AA Change: I16F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001975
Gene: ENSMUSG00000001910
AA Change: I16F

DomainStartEndE-ValueType
BTB 30 124 4.05e-25 SMART
low complexity region 135 146 N/A INTRINSIC
low complexity region 224 235 N/A INTRINSIC
low complexity region 252 264 N/A INTRINSIC
low complexity region 267 281 N/A INTRINSIC
BEN 382 457 6.4e-18 SMART
Meta Mutation Damage Score 0.3211 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.4%
Validation Efficiency 96% (52/54)
MGI Phenotype 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
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,538,525 (GRCm39) C632S probably damaging Het
Antxr2 T A 5: 98,096,109 (GRCm39) M392L possibly damaging Het
Cd101 A G 3: 100,915,533 (GRCm39) V678A probably benign Het
Clec2g T C 6: 128,957,274 (GRCm39) probably null Het
Clec2g T A 6: 128,925,716 (GRCm39) S42T probably benign Het
Creb1 A G 1: 64,615,367 (GRCm39) I240V possibly damaging Het
D2hgdh G T 1: 93,763,009 (GRCm39) V265L possibly damaging Het
Dctn2 A T 10: 127,113,354 (GRCm39) probably null Het
Diablo A T 5: 123,656,087 (GRCm39) S117R probably damaging Het
Ebf2 A T 14: 67,647,499 (GRCm39) R349S probably damaging Het
Fam168a C T 7: 100,484,618 (GRCm39) A252V probably benign Het
Fbn2 T C 18: 58,202,256 (GRCm39) Y1299C probably damaging Het
Gne A C 4: 44,060,099 (GRCm39) V98G probably damaging Het
Hk2 A G 6: 82,713,509 (GRCm39) probably null Het
Ifi206 A T 1: 173,314,413 (GRCm39) V9D probably damaging Het
Ints3 A G 3: 90,307,954 (GRCm39) probably benign Het
Itgal A G 7: 126,909,503 (GRCm39) T56A probably benign Het
Lzts3 T A 2: 130,478,460 (GRCm39) T213S probably benign Het
Map1b A G 13: 99,566,356 (GRCm39) S2122P unknown Het
Mei4 C T 9: 81,907,635 (GRCm39) Q223* probably null Het
Mpzl3 T C 9: 44,979,550 (GRCm39) V167A probably damaging Het
Myo1d A G 11: 80,528,779 (GRCm39) I681T probably damaging Het
Myom2 A G 8: 15,167,624 (GRCm39) T1070A probably benign Het
Nfx1 T C 4: 40,986,688 (GRCm39) probably benign Het
Or10ak12 A T 4: 118,666,887 (GRCm39) V58D probably damaging Het
Or8g33 A G 9: 39,338,188 (GRCm39) Y60H probably damaging Het
Ostm1 A C 10: 42,568,952 (GRCm39) D37A probably benign Het
Pde8a T C 7: 80,968,871 (GRCm39) probably benign Het
Pole2 A T 12: 69,256,661 (GRCm39) V288E probably damaging Het
Poteg T C 8: 27,937,849 (GRCm39) S2P probably benign Het
Ppp2r5c A T 12: 110,534,204 (GRCm39) M356L probably benign Het
Prkdc G A 16: 15,544,368 (GRCm39) S1786N probably benign Het
Prox1 A G 1: 189,893,116 (GRCm39) V443A possibly damaging Het
Prpf6 T A 2: 181,257,756 (GRCm39) probably null Het
Ptger1 A T 8: 84,394,948 (GRCm39) T142S possibly damaging Het
Rad54l2 C A 9: 106,587,564 (GRCm39) V734L possibly damaging Het
Rnpepl1 T A 1: 92,846,620 (GRCm39) N507K possibly damaging Het
Slc38a10 A T 11: 119,997,328 (GRCm39) V722E probably damaging Het
Slfn10-ps A G 11: 82,926,368 (GRCm39) noncoding transcript Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Sult1e1 A T 5: 87,727,756 (GRCm39) H175Q probably damaging Het
Ube2e3 C A 2: 78,750,293 (GRCm39) probably benign Het
Vmn1r208 A T 13: 22,956,595 (GRCm39) W301R probably benign Het
Vps13d A G 4: 144,789,133 (GRCm39) I746T probably benign Het
Xpnpep3 T C 15: 81,314,999 (GRCm39) V233A probably benign Het
Zfp329 A T 7: 12,544,859 (GRCm39) S222T probably damaging Het
Zswim6 T C 13: 107,875,098 (GRCm39) noncoding transcript Het
Other mutations in Nacc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0052:Nacc1 UTSW 8 85,402,854 (GRCm39) missense probably benign 0.00
R0145:Nacc1 UTSW 8 85,401,504 (GRCm39) splice site probably benign
R0732:Nacc1 UTSW 8 85,402,830 (GRCm39) missense probably damaging 0.96
R1966:Nacc1 UTSW 8 85,403,010 (GRCm39) missense probably damaging 1.00
R2064:Nacc1 UTSW 8 85,399,747 (GRCm39) missense probably benign 0.18
R3709:Nacc1 UTSW 8 85,403,828 (GRCm39) missense probably damaging 1.00
R4409:Nacc1 UTSW 8 85,399,673 (GRCm39) makesense probably null
R5428:Nacc1 UTSW 8 85,402,783 (GRCm39) missense probably damaging 1.00
R6014:Nacc1 UTSW 8 85,401,700 (GRCm39) missense possibly damaging 0.93
R6341:Nacc1 UTSW 8 85,401,420 (GRCm39) missense probably benign 0.09
R6862:Nacc1 UTSW 8 85,399,844 (GRCm39) missense probably damaging 1.00
R7288:Nacc1 UTSW 8 85,403,174 (GRCm39) missense probably benign
R7594:Nacc1 UTSW 8 85,401,631 (GRCm39) missense probably damaging 0.99
R8499:Nacc1 UTSW 8 85,403,345 (GRCm39) missense probably damaging 1.00
R9052:Nacc1 UTSW 8 85,403,377 (GRCm39) missense probably damaging 1.00
RF002:Nacc1 UTSW 8 85,402,848 (GRCm39) missense possibly damaging 0.50
Z1088:Nacc1 UTSW 8 85,399,915 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAACTGGTCTCCCATGTTCATGCTC -3'
(R):5'- GCTGTTGTTTGTGACTCCCACATGC -3'

Sequencing Primer
(F):5'- CCGGCCTGTGTAACAAAATGTG -3'
(R):5'- GTGACTCCCACATGCTCTCC -3'
Posted On 2013-05-09