Mutagenetix > Incidental Mutation

Incidental Mutation 'R0052:Nacc1'

33049

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

038346-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0052 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85397106-85414528 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85402854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 313 (V313D)

Ref Sequence

ENSEMBL: ENSMUSP00000001975 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001975]

AlphaFold

Q7TSZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000001975
AA Change: V313D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000001975
Gene: ENSMUSG00000001910
AA Change: V313D

Domain	Start	End	E-Value	Type
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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.2%

Validation Efficiency

97% (65/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	T	C	19: 23,893,315 (GRCm39)	S438P	possibly damaging	Het
Atosa	A	G	9: 74,926,265 (GRCm39)		probably benign	Het
Atp2a1	A	G	7: 126,057,069 (GRCm39)		probably benign	Het
Axin2	T	C	11: 108,840,096 (GRCm39)	Y735H	probably damaging	Het
Bicd2	T	A	13: 49,528,790 (GRCm39)	L184Q	probably damaging	Het
Bub1	G	A	2: 127,650,959 (GRCm39)	T618I	probably benign	Het
Catsperg2	A	G	7: 29,424,445 (GRCm39)		probably benign	Het
Ccdc73	T	A	2: 104,759,915 (GRCm39)		probably benign	Het
Crybg3	A	T	16: 59,386,019 (GRCm39)		probably benign	Het
Dsp	A	G	13: 38,381,340 (GRCm39)	D2096G	possibly damaging	Het
Eef2	C	CN	10: 81,014,602 (GRCm39)		probably null	Het
Elp3	A	G	14: 65,768,975 (GRCm39)	*548Q	probably null	Het
Eno4	A	G	19: 58,956,985 (GRCm39)	D357G	probably damaging	Het
Fcrl2	A	T	3: 87,164,085 (GRCm39)	I348N	possibly damaging	Het
Fgl2	A	T	5: 21,580,347 (GRCm39)	S230C	probably damaging	Het
Ginm1	T	A	10: 7,655,070 (GRCm39)	E57D	possibly damaging	Het
Gtf3c1	A	T	7: 125,267,143 (GRCm39)		probably null	Het
Herc1	G	T	9: 66,307,438 (GRCm39)	G1044V	probably damaging	Het
Hmcn1	G	A	1: 150,553,157 (GRCm39)	T2511M	probably damaging	Het
Iba57	C	T	11: 59,049,727 (GRCm39)	A207T	probably benign	Het
Itga9	T	A	9: 118,465,617 (GRCm39)	I157N	probably damaging	Het
Kalrn	A	G	16: 34,177,541 (GRCm39)	L208P	probably damaging	Het
Kcnj10	A	G	1: 172,196,491 (GRCm39)	T2A	probably benign	Het
Kdm1b	T	A	13: 47,217,593 (GRCm39)	C351S	probably damaging	Het
Kif21a	T	C	15: 90,855,060 (GRCm39)	E700G	probably damaging	Het
Mmd	C	T	11: 90,150,824 (GRCm39)		probably benign	Het
Mocs3	C	T	2: 168,073,602 (GRCm39)	P350S	probably benign	Het
Morn3	T	C	5: 123,184,726 (GRCm39)	Y38C	probably damaging	Het
Nbeal1	T	A	1: 60,267,771 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,163,992 (GRCm39)	K1989E	possibly damaging	Het
Nlrp3	C	T	11: 59,455,954 (GRCm39)	R917*	probably null	Het
Nlrp4b	T	A	7: 10,459,889 (GRCm39)	Y463*	probably null	Het
Perm1	A	T	4: 156,302,572 (GRCm39)	D372V	probably damaging	Het
Phf3	T	C	1: 30,847,848 (GRCm39)	T1232A	probably damaging	Het
Phldb3	G	A	7: 24,312,004 (GRCm39)	R106Q	probably benign	Het
Pld4	T	A	12: 112,734,291 (GRCm39)	F386I	probably benign	Het
Prex2	T	A	1: 11,230,380 (GRCm39)	L802Q	probably damaging	Het
Psd3	A	G	8: 68,335,631 (GRCm39)		probably null	Het
Ralgds	T	A	2: 28,434,400 (GRCm39)		probably null	Het
Rmdn2	A	G	17: 79,957,760 (GRCm39)	E16G	probably damaging	Het
Rnf111	A	T	9: 70,383,671 (GRCm39)	S87R	probably benign	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slc9c1	A	G	16: 45,427,219 (GRCm39)		probably benign	Het
Slco3a1	A	T	7: 74,154,074 (GRCm39)	I166N	probably benign	Het
Snx5	A	T	2: 144,101,112 (GRCm39)		probably null	Het
Srgap1	T	C	10: 121,636,732 (GRCm39)	D741G	possibly damaging	Het
St8sia2	G	T	7: 73,593,038 (GRCm39)	Y339*	probably null	Het
St8sia2	A	T	7: 73,621,700 (GRCm39)	W86R	probably damaging	Het
Stk33	A	G	7: 108,878,876 (GRCm39)	L491P	possibly damaging	Het
Sult2a7	T	C	7: 14,199,133 (GRCm39)	Y298C	probably damaging	Het
Tdo2	T	A	3: 81,874,332 (GRCm39)	N210I	probably benign	Het
Thada	A	T	17: 84,762,586 (GRCm39)	N104K	probably damaging	Het
Timm8b	A	T	9: 50,516,330 (GRCm39)	D61V	possibly damaging	Het
Tshz1	G	A	18: 84,033,070 (GRCm39)	T446I	possibly damaging	Het
Ubap2l	T	C	3: 89,946,235 (GRCm39)	N123S	possibly damaging	Het
Vmn1r48	T	C	6: 90,013,246 (GRCm39)	E193G	possibly damaging	Het
Vmn1r69	C	T	7: 10,314,327 (GRCm39)	V135I	probably benign	Het
Vmn2r103	G	T	17: 20,031,903 (GRCm39)	G559V	probably benign	Het
Vmn2r26	T	A	6: 124,038,992 (GRCm39)	*856R	probably null	Het
Vmn2r88	A	G	14: 51,656,157 (GRCm39)	I798V	possibly damaging	Het
Vsir	C	T	10: 60,193,861 (GRCm39)	A108V	probably benign	Het
Zfp14	G	T	7: 29,737,753 (GRCm39)	Q411K	probably damaging	Het
Zfp236	A	T	18: 82,657,457 (GRCm39)	M762K	probably damaging	Het
Zfp462	G	A	4: 55,011,762 (GRCm39)	G1243S	probably benign	Het

Other mutations in Nacc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0069:Nacc1	UTSW	8	85,403,828 (GRCm39)	missense	probably damaging	1.00
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'- TGGGAACTAAAGCACTGCCAGCAC -3'
(R):5'- AGCTCCTACCACAATGAAGAGGACG -3'

Sequencing Primer
(F):5'- GCACACCTGTCACGAGC -3'
(R):5'- CACAGATGAGCAGTACCGTCAG -3'

Posted On

2013-05-09