Mutagenetix > Incidental Mutation

Incidental Mutation 'RF002:Nacc1'

602566

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85397106-85414528 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85402848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 315 (E315G)

Ref Sequence

ENSEMBL: ENSMUSP00000001975 (fasta)

Gene Model

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

AlphaFold

Q7TSZ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001975
AA Change: E315G

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000001975
Gene: ENSMUSG00000001910
AA Change: E315G

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: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	CGG	CGGTGG	19: 5,475,262 (GRCm39)		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,475,263 (GRCm39)		probably benign	Het
Angptl1	A	T	1: 156,684,794 (GRCm39)	Q321L	possibly damaging	Het
AY358078	T	TAGGATAATGC	14: 52,043,050 (GRCm39)		probably null	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT	7: 80,162,653 (GRCm39)		probably benign	Het
Blm	CTC	CTCATCCTCCTCATC	7: 80,162,675 (GRCm39)		probably benign	Het
Car13	T	C	3: 14,719,974 (GRCm39)	Y129H	probably damaging	Het
Cd109	TTATTTATTTAT	TTATTTATTTATGTATTTATTTAT	9: 78,619,805 (GRCm39)		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,619,810 (GRCm39)		probably benign	Het
Cdh26	T	C	2: 178,108,424 (GRCm39)	C341R	probably damaging	Het
Chga	GCA	GCACCA	12: 102,527,680 (GRCm39)		probably benign	Het
Col11a1	A	T	3: 114,010,650 (GRCm39)	I1689L	unknown	Het
Dnah6	T	G	6: 73,078,872 (GRCm39)	S2364R	probably benign	Het
E4f1	CCG	CCGACG	17: 24,674,160 (GRCm39)		probably benign	Het
Fah	A	C	7: 84,238,836 (GRCm39)	N336K	probably damaging	Het
Fbxo11	A	T	17: 88,303,481 (GRCm39)	I664K		Het
Fcgbp	A	G	7: 27,789,180 (GRCm39)	D582G	probably benign	Het
Gabre	C	CCGGCTA	X: 71,313,663 (GRCm39)		probably null	Het
Garin5a	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA	7: 44,149,944 (GRCm39)		probably null	Het
Gm1110	A	G	9: 26,831,936 (GRCm39)	Y72H	probably damaging	Het
Inpp5e	C	T	2: 26,298,389 (GRCm39)	A71T	possibly damaging	Het
Iqcm	C	T	8: 76,304,527 (GRCm39)	T96I	probably benign	Het
Lce1m	TGCCACCGCTGC	TGCCACCGCTGCCGCCACCGCTGC	3: 92,925,590 (GRCm39)		probably benign	Het
Lce1m	AC	ACCGCCGCTGCCCC	3: 92,925,606 (GRCm39)		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 75,185,014 (GRCm39)		probably benign	Het
Lyst	A	G	13: 13,808,948 (GRCm39)	D206G	probably benign	Het
Map4k5	A	T	12: 69,903,630 (GRCm39)	D58E	probably damaging	Het
Mapkapk2	A	G	1: 130,984,250 (GRCm39)	S251P	probably damaging	Het
Mcph1	CCTG	CCTGCTG	8: 18,702,545 (GRCm39)		probably benign	Het
Men1	T	C	19: 6,390,146 (GRCm39)	S600P	probably damaging	Het
Mllt1	C	T	17: 57,203,300 (GRCm39)	V394M	probably benign	Het
Mllt1	C	A	17: 57,203,301 (GRCm39)	M393I	possibly damaging	Het
Nefh	GGGGACTTGGCCTC	GGGGACTTGGCCTCACCTAGGGACTTGGCCTC	11: 4,891,047 (GRCm39)		probably benign	Het
Nefh	GACTTGGCCTC	GACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,050 (GRCm39)		probably benign	Het
Nid2	TAACACCGCCA	TA	14: 19,801,434 (GRCm39)		probably benign	Het
Or5b122	T	A	19: 13,563,415 (GRCm39)	I206N	probably damaging	Het
Parp2	A	G	14: 51,054,843 (GRCm39)	E262G	probably damaging	Het
Pdik1l	TTT	TTTGTTTTTGTGTT	4: 134,006,686 (GRCm39)		probably null	Het
Pop1	G	A	15: 34,502,583 (GRCm39)	G90D	probably damaging	Het
Ppp3cc	T	C	14: 70,504,788 (GRCm39)	T73A	possibly damaging	Het
Prdm15	C	T	16: 97,600,829 (GRCm39)	D810N	probably damaging	Het
Prpf4b	T	A	13: 35,068,219 (GRCm39)	S349R	unknown	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,756,780 (GRCm39)		probably benign	Het
Rassf6	GTAGAGCAATGGGGATTC	GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC	5: 90,756,784 (GRCm39)		probably null	Het
Sdk2	T	C	11: 113,776,078 (GRCm39)	E208G	probably benign	Het
Smurf2	G	T	11: 106,743,413 (GRCm39)	P211Q	probably benign	Het
Snx25	C	A	8: 46,569,218 (GRCm39)		probably null	Het
Spata6	T	A	4: 111,685,502 (GRCm39)	M469K	probably benign	Het
Spta1	G	T	1: 174,058,926 (GRCm39)	A1954S	possibly damaging	Het
Sry	CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG	CTGGTCATGGAACTGCTG	Y: 2,662,564 (GRCm39)		probably benign	Het
Stard8	GAG	GAGTAG	X: 98,110,121 (GRCm39)		probably null	Het
Tfeb	AGC	AGCGGC	17: 48,097,027 (GRCm39)		probably benign	Het
Tlcd1	T	A	11: 78,071,020 (GRCm39)	L203Q	probably benign	Het
Tlr11	T	C	14: 50,598,682 (GRCm39)	F223L	possibly damaging	Het
Usp48	T	A	4: 137,333,106 (GRCm39)	V100D	probably damaging	Het
Vinac1	A	G	2: 128,880,714 (GRCm39)	F404S		Het
Vmn2r56	G	A	7: 12,428,757 (GRCm39)	T503I	probably benign	Het
Vps18	T	C	2: 119,127,871 (GRCm39)	L898P	probably damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,013,434 (GRCm39)		probably benign	Het
Zfp706	T	A	15: 37,003,949 (GRCm39)	Y39F	probably benign	Het
Zhx3	T	A	2: 160,623,726 (GRCm39)	N147I	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
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
Z1088:Nacc1	UTSW	8	85,399,915 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGAGTGTCAAGTGCCCTG -3'
(R):5'- GAGCAGTACCGTCAGATCTG -3'

Sequencing Primer
(F):5'- TGTCAAGTGCCCTGGGACAC -3'
(R):5'- GCAGTACCGTCAGATCTGCAATATG -3'

Posted On

2019-12-04