Mutagenetix > Incidental Mutation

Incidental Mutation 'R6018:Nab2'

478725

Institutional Source

Beutler Lab

Gene Symbol

Nab2

Ensembl Gene

ENSMUSG00000025402

Gene Name

Ngfi-A binding protein 2

Synonyms

MMRRC Submission

044192-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6018 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127496787-127502572 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 127500793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 100 (Q100*)

Ref Sequence

ENSEMBL: ENSMUSP00000096761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026469] [ENSMUST00000092074] [ENSMUST00000099157] [ENSMUST00000118728] [ENSMUST00000128780] [ENSMUST00000129252]

AlphaFold

Q61127

Predicted Effect

probably null
Transcript: ENSMUST00000026469
AA Change: Q100*

SMART Domains

Protein: ENSMUSP00000026469
Gene: ENSMUSG00000025402
AA Change: Q100*

Domain	Start	End	E-Value	Type
Pfam:NCD1	36	114	1.2e-44	PFAM
Pfam:NCD2	230	364	3.2e-59	PFAM
low complexity region	393	406	N/A	INTRINSIC
low complexity region	431	446	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092074

SMART Domains

Protein: ENSMUSP00000089708
Gene: ENSMUSG00000002147

Domain	Start	End	E-Value	Type
STAT_int	2	116	2.76e-31	SMART
Pfam:STAT_bind	273	526	4.4e-87	PFAM
SH2	540	622	1.33e-5	SMART
Pfam:STAT6_C	655	837	1.1e-94	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000099157
AA Change: Q100*

SMART Domains

Protein: ENSMUSP00000096761
Gene: ENSMUSG00000025402
AA Change: Q100*

Domain	Start	End	E-Value	Type
Pfam:NCD1	34	115	4.4e-51	PFAM
Pfam:NCD2	199	366	3.6e-74	PFAM
low complexity region	393	406	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118728

SMART Domains

Protein: ENSMUSP00000113473
Gene: ENSMUSG00000040195

Domain	Start	End	E-Value	Type
Pfam:DUF2215	100	348	7.2e-105	PFAM
low complexity region	367	377	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124388

Predicted Effect

probably benign
Transcript: ENSMUST00000128780

SMART Domains

Protein: ENSMUSP00000121737
Gene: ENSMUSG00000025402

Domain	Start	End	E-Value	Type
Pfam:NCD1	1	66	3.4e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129252

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133505

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.6%

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 family of NGFI-A binding (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB proteins can homo- or hetero-multimerize with other EGR or NAB proteins through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded protein is mediated in part by interactions with the nucleosome remodeling and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile with normal myelination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,210,448 (GRCm39)	Y155N	probably damaging	Het
1700019A02Rik	C	T	1: 53,202,405 (GRCm39)		probably null	Het
2310022B05Rik	A	G	8: 125,365,853 (GRCm39)	F297L	probably benign	Het
Acbd3	T	C	1: 180,579,903 (GRCm39)	S516P	possibly damaging	Het
Agbl3	A	G	6: 34,776,190 (GRCm39)	N227S	probably damaging	Het
Ak6	C	T	13: 100,802,459 (GRCm39)	Q151*	probably null	Het
Ano4	A	G	10: 88,865,128 (GRCm39)	L297P	probably benign	Het
Anxa5	T	C	3: 36,504,807 (GRCm39)	T252A	probably benign	Het
Ap5s1	G	A	2: 131,054,915 (GRCm39)	W212*	probably null	Het
Arl9	A	G	5: 77,155,253 (GRCm39)	Q113R	probably damaging	Het
Atg2b	T	C	12: 105,627,430 (GRCm39)	H519R	probably damaging	Het
Atp1a2	A	G	1: 172,125,579 (GRCm39)		probably benign	Het
Atp2b1	G	A	10: 98,846,622 (GRCm39)	A808T	probably damaging	Het
Bckdhb	C	A	9: 83,951,237 (GRCm39)	T342K	probably benign	Het
Bdp1	T	C	13: 100,174,732 (GRCm39)	H1996R	probably benign	Het
Brix1	C	T	15: 10,476,675 (GRCm39)	R267H	probably benign	Het
Ccdc180	A	G	4: 45,926,235 (GRCm39)	I1148M	probably damaging	Het
Csf3r	T	A	4: 125,937,414 (GRCm39)	M766K	probably benign	Het
Ctnnd1	T	A	2: 84,480,812 (GRCm39)		probably benign	Het
Cyp2c39	A	T	19: 39,499,436 (GRCm39)	N41I	probably damaging	Het
D2hgdh	G	T	1: 93,754,182 (GRCm39)	V52L	probably benign	Het
Dppa4	T	A	16: 48,109,490 (GRCm39)	Y77*	probably null	Het
Eif4enif1	T	C	11: 3,192,481 (GRCm39)	S770P	probably damaging	Het
Fbxl16	A	T	17: 26,036,709 (GRCm39)	D230V	probably damaging	Het
Gm4847	G	A	1: 166,471,017 (GRCm39)	A11V	probably damaging	Het
Gm9978	C	T	10: 78,322,915 (GRCm39)		noncoding transcript	Het
Gpatch8	A	G	11: 102,371,741 (GRCm39)	L599P	unknown	Het
Hdac4	A	G	1: 91,886,120 (GRCm39)	L254P	probably damaging	Het
Heatr1	A	G	13: 12,419,828 (GRCm39)	I384V	probably benign	Het
Heatr1	A	T	13: 12,420,939 (GRCm39)	Q410L	probably benign	Het
Hmcn2	A	G	2: 31,260,804 (GRCm39)	I1065V	probably benign	Het
Igkv6-14	A	G	6: 70,412,024 (GRCm39)	S87P	probably damaging	Het
Il2rb	G	T	15: 78,366,266 (GRCm39)	Q344K	possibly damaging	Het
Ipo4	A	G	14: 55,863,609 (GRCm39)		probably null	Het
Ipo9	A	G	1: 135,318,274 (GRCm39)		probably null	Het
Khdrbs1	T	C	4: 129,613,887 (GRCm39)	T374A	probably benign	Het
Lamc3	G	T	2: 31,795,724 (GRCm39)	G370W	probably damaging	Het
Lipn	T	A	19: 34,054,335 (GRCm39)	L191Q	probably damaging	Het
Lpl	T	C	8: 69,353,940 (GRCm39)	V427A	probably benign	Het
Magi3	T	C	3: 104,013,128 (GRCm39)	S120G	probably damaging	Het
Mgl2	T	C	11: 70,027,937 (GRCm39)	*382Q	probably null	Het
Nfat5	T	A	8: 108,082,283 (GRCm39)		probably null	Het
Nqo1	T	C	8: 108,115,500 (GRCm39)	H259R	probably damaging	Het
Nrdc	T	A	4: 108,870,944 (GRCm39)	D190E	probably benign	Het
Or5m5	T	A	2: 85,815,148 (GRCm39)		probably benign	Het
Osmr	G	A	15: 6,845,276 (GRCm39)	P830L	probably damaging	Het
Parp14	G	A	16: 35,661,827 (GRCm39)	P1403S	probably benign	Het
Pde11a	T	A	2: 75,848,194 (GRCm39)	M878L	probably benign	Het
Pik3ap1	T	C	19: 41,373,455 (GRCm39)		probably benign	Het
Pla2g3	T	C	11: 3,441,916 (GRCm39)	L360P	probably damaging	Het
Plxnc1	A	G	10: 94,779,710 (GRCm39)	V244A	probably benign	Het
Pramel16	C	T	4: 143,677,469 (GRCm39)	A37T	possibly damaging	Het
Ptpra	T	C	2: 130,345,422 (GRCm39)	V8A	probably benign	Het
Rbbp5	T	C	1: 132,422,078 (GRCm39)	V199A	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rp1	A	G	1: 4,423,059 (GRCm39)	V7A	possibly damaging	Het
Sdk2	T	C	11: 113,720,889 (GRCm39)	T1347A	probably benign	Het
Sgo2a	T	A	1: 58,056,118 (GRCm39)	H767Q	probably benign	Het
Sis	G	A	3: 72,820,525 (GRCm39)	P1413L	possibly damaging	Het
Slc22a5	G	T	11: 53,766,846 (GRCm39)	A214E	probably damaging	Het
Snx13	G	T	12: 35,097,318 (GRCm39)		probably benign	Het
Sun5	T	A	2: 153,700,363 (GRCm39)	I295F	probably damaging	Het
Themis3	C	T	17: 66,900,204 (GRCm39)	A55T	probably damaging	Het
Tmem255b	T	C	8: 13,505,138 (GRCm39)	Y148H	probably benign	Het
Tmem74b	A	G	2: 151,548,639 (GRCm39)	E122G	probably damaging	Het
Top3b	T	C	16: 16,710,756 (GRCm39)	V862A	probably damaging	Het
Trim35	A	T	14: 66,546,199 (GRCm39)	D322V	probably damaging	Het
Trpm2	A	G	10: 77,753,547 (GRCm39)	F1319S	probably benign	Het
Ttn	T	A	2: 76,785,020 (GRCm39)	R756S	probably benign	Het
Vmn2r108	A	T	17: 20,683,268 (GRCm39)	N645K	possibly damaging	Het
Vmn2r73	A	G	7: 85,521,875 (GRCm39)	S155P	possibly damaging	Het
Vstm4	G	A	14: 32,585,627 (GRCm39)	A65T	probably benign	Het

Other mutations in Nab2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Nab2	APN	10	127,500,978 (GRCm39)	missense	probably damaging	1.00
IGL01415:Nab2	APN	10	127,500,972 (GRCm39)	missense	probably damaging	1.00
IGL02248:Nab2	APN	10	127,499,109 (GRCm39)	missense	probably benign	0.31
IGL03080:Nab2	APN	10	127,500,663 (GRCm39)	missense	possibly damaging	0.56
IGL03084:Nab2	APN	10	127,500,346 (GRCm39)	missense	probably damaging	1.00
katie	UTSW	10	127,500,207 (GRCm39)	missense	probably damaging	1.00
schneider	UTSW	10	127,502,417 (GRCm39)	intron	probably benign
R0381:Nab2	UTSW	10	127,500,936 (GRCm39)	missense	probably damaging	1.00
R1074:Nab2	UTSW	10	127,499,124 (GRCm39)	nonsense	probably null
R1535:Nab2	UTSW	10	127,500,916 (GRCm39)	missense	probably damaging	0.99
R4214:Nab2	UTSW	10	127,500,917 (GRCm39)	nonsense	probably null
R4742:Nab2	UTSW	10	127,498,696 (GRCm39)	missense	probably benign	0.02
R5590:Nab2	UTSW	10	127,500,526 (GRCm39)	missense	probably damaging	0.98
R5603:Nab2	UTSW	10	127,500,990 (GRCm39)	start codon destroyed	probably null	0.96
R5776:Nab2	UTSW	10	127,500,198 (GRCm39)	missense	probably damaging	0.99
R6381:Nab2	UTSW	10	127,500,220 (GRCm39)	missense	probably damaging	1.00
R6610:Nab2	UTSW	10	127,500,207 (GRCm39)	missense	probably damaging	1.00
R7025:Nab2	UTSW	10	127,502,377 (GRCm39)	intron	probably benign
R8220:Nab2	UTSW	10	127,498,645 (GRCm39)	missense	probably benign	0.03
R8221:Nab2	UTSW	10	127,498,645 (GRCm39)	missense	probably benign	0.03
R8222:Nab2	UTSW	10	127,498,645 (GRCm39)	missense	probably benign	0.03
R8223:Nab2	UTSW	10	127,498,645 (GRCm39)	missense	probably benign	0.03
R8277:Nab2	UTSW	10	127,501,168 (GRCm39)	intron	probably benign
R8293:Nab2	UTSW	10	127,502,266 (GRCm39)	missense	possibly damaging	0.86
R8766:Nab2	UTSW	10	127,502,417 (GRCm39)	intron	probably benign
R9375:Nab2	UTSW	10	127,500,580 (GRCm39)	missense	probably damaging	1.00
RF005:Nab2	UTSW	10	127,500,233 (GRCm39)	missense	probably benign	0.04
RF024:Nab2	UTSW	10	127,500,233 (GRCm39)	missense	probably benign	0.04
Z1176:Nab2	UTSW	10	127,499,001 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GACTCTTGGGGCTAAAGCTTC -3'
(R):5'- TTTCTCCTCAGGGCAAGTGC -3'

Sequencing Primer
(F):5'- CTTCGAGCACTGCCCGC -3'
(R):5'- ACACTGGGTGAGCTACAGC -3'

Posted On

2017-06-26