Mutagenetix > Incidental Mutation

Incidental Mutation 'R7288:Nacc1'

566162

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

045395-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7288 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85397106-85414528 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85403174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 234 (A234T)

Ref Sequence

ENSEMBL: ENSMUSP00000001975 (fasta)

Gene Model

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

AlphaFold

Q7TSZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000001975
AA Change: A234T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000001975
Gene: ENSMUSG00000001910
AA Change: A234T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,771,131 (GRCm39)	D204E	probably benign	Het
Adh1	T	G	3: 137,988,493 (GRCm39)	D155E	probably benign	Het
Akt1s1	T	C	7: 44,498,571 (GRCm39)	L2P	unknown	Het
Ash1l	T	A	3: 88,873,199 (GRCm39)		probably benign	Het
Bend7	C	T	2: 4,757,641 (GRCm39)	P228S	probably damaging	Het
Bpifc	T	C	10: 85,824,585 (GRCm39)	E218G	possibly damaging	Het
Cdk6	T	A	5: 3,479,001 (GRCm39)	F127Y	probably benign	Het
Cgnl1	A	T	9: 71,632,846 (GRCm39)	H168Q	possibly damaging	Het
Chd7	C	T	4: 8,847,093 (GRCm39)	T1612I	possibly damaging	Het
Col4a4	A	T	1: 82,470,184 (GRCm39)	C782S	unknown	Het
Copg2	T	A	6: 30,801,341 (GRCm39)	I364L	probably damaging	Het
Crygb	A	G	1: 65,121,084 (GRCm39)	L81P	probably benign	Het
Cyp4f18	A	T	8: 72,747,017 (GRCm39)	M326K	probably damaging	Het
Dhx34	A	G	7: 15,949,361 (GRCm39)	S356P	probably benign	Het
Dmbt1	C	T	7: 130,685,519 (GRCm39)	Q855*	probably null	Het
Dnai3	T	C	3: 145,787,007 (GRCm39)	T343A	probably damaging	Het
Dnph1	A	G	17: 46,809,938 (GRCm39)	N160S	probably benign	Het
Esrra	A	T	19: 6,890,139 (GRCm39)	C228*	probably null	Het
Evpl	T	C	11: 116,114,775 (GRCm39)	N972D	probably benign	Het
Fat3	T	C	9: 15,909,888 (GRCm39)	D2038G	probably damaging	Het
Fhit	T	A	14: 9,763,784 (GRCm38)	R102W	probably damaging	Het
Gal3st1	A	T	11: 3,948,609 (GRCm39)	D272V	probably damaging	Het
Gal3st1	T	A	11: 3,948,651 (GRCm39)	V286D	probably damaging	Het
Gemin4	A	T	11: 76,104,206 (GRCm39)	M185K	possibly damaging	Het
Hecw1	T	C	13: 14,490,821 (GRCm39)	I311V	probably benign	Het
Ift172	T	C	5: 31,442,630 (GRCm39)	Y179C	probably damaging	Het
Ighv7-3	C	T	12: 114,116,963 (GRCm39)	W66*	probably null	Het
Iqgap3	T	A	3: 88,016,142 (GRCm39)	I975N	probably damaging	Het
Khdrbs3	A	G	15: 68,921,262 (GRCm39)	E281G	possibly damaging	Het
Lamb2	A	T	9: 108,365,523 (GRCm39)	T1369S	probably benign	Het
Mettl8	A	T	2: 70,812,382 (GRCm39)	D84E	probably benign	Het
Mrgprb3	C	A	7: 48,293,059 (GRCm39)	C164F	probably damaging	Het
Mtg2	A	G	2: 179,725,180 (GRCm39)	Y131C	probably damaging	Het
Nsmaf	C	T	4: 6,416,641 (GRCm39)	V551I	probably benign	Het
Or13a26	T	A	7: 140,284,942 (GRCm39)	C259*	probably null	Het
Or7e175	T	A	9: 20,048,737 (GRCm39)	Y108*	probably null	Het
Oxr1	C	T	15: 41,677,004 (GRCm39)	P187L	not run	Het
Pcdhb12	T	A	18: 37,569,068 (GRCm39)	D71E	probably benign	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pkm	A	G	9: 59,576,196 (GRCm39)	S127G	probably benign	Het
Plxna2	T	A	1: 194,479,227 (GRCm39)	L1296H	probably damaging	Het
Ppil6	C	G	10: 41,374,524 (GRCm39)	T135R	probably benign	Het
Ppp2r3d	T	C	9: 101,004,203 (GRCm39)	Y378C	probably damaging	Het
Rabep2	C	T	7: 126,043,377 (GRCm39)	R426C	probably damaging	Het
Rad21	A	T	15: 51,845,976 (GRCm39)	H31Q	possibly damaging	Het
Rad50	G	T	11: 53,545,776 (GRCm39)	Y1182*	probably null	Het
Serpinb9c	C	T	13: 33,335,883 (GRCm39)	A218T	possibly damaging	Het
Slc34a1	C	A	13: 24,003,095 (GRCm39)	H248Q	probably benign	Het
Slc45a4	C	A	15: 73,458,785 (GRCm39)	E255*	probably null	Het
Slc8a3	T	A	12: 81,263,598 (GRCm39)	K596N	possibly damaging	Het
Tbc1d32	A	C	10: 55,927,483 (GRCm39)		probably null	Het
Tbl2	T	A	5: 135,183,253 (GRCm39)	I112N	possibly damaging	Het
Tchp	A	C	5: 114,853,630 (GRCm39)	K238T	probably damaging	Het
Tfap2d	G	A	1: 19,189,207 (GRCm39)	G251D	probably damaging	Het
Thrb	T	A	14: 18,030,186 (GRCm38)	M324K	probably damaging	Het
Tmem259	A	T	10: 79,814,300 (GRCm39)	L328Q	probably damaging	Het
Tmtc2	T	C	10: 105,249,469 (GRCm39)	H88R	probably damaging	Het
Tnfrsf21	A	G	17: 43,348,709 (GRCm39)	H107R	possibly damaging	Het
Trib1	T	C	15: 59,526,471 (GRCm39)	V347A	probably benign	Het
Ung	T	A	5: 114,269,315 (GRCm39)	L9*	probably null	Het
Vmn1r195	G	T	13: 22,463,174 (GRCm39)	V215F	probably damaging	Het
Wdr90	A	G	17: 26,065,286 (GRCm39)	S1657P	probably benign	Het
Wdsub1	A	T	2: 59,708,487 (GRCm39)	Y129N	possibly damaging	Het
Zfp369	T	G	13: 65,432,832 (GRCm39)		probably null	Het
Zfp770	G	T	2: 114,026,142 (GRCm39)	C642*	probably null	Het
Zfp981	C	T	4: 146,622,100 (GRCm39)	R342C	probably benign	Het
Zhx3	A	C	2: 160,623,042 (GRCm39)	V375G	probably damaging	Het

Other mutations in Nacc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0052:Nacc1	UTSW	8	85,402,854 (GRCm39)	missense	probably benign	0.00
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
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'- TGGCCAACGTTCAACATACTG -3'
(R):5'- GTCACGGGTCAAGACAGAAC -3'

Sequencing Primer
(F):5'- GCCAACGTTCAACATACTGTACATTG -3'
(R):5'- AGTTGGACTCAGTGCAATGC -3'

Posted On

2019-06-26