Mutagenetix > Incidental Mutation

Incidental Mutation 'R1535:Nab2'

166904

Institutional Source

Beutler Lab

Gene Symbol

Nab2

Ensembl Gene

ENSMUSG00000025402

Gene Name

Ngfi-A binding protein 2

Synonyms

MMRRC Submission

039574-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1535 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127496787-127502572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 127500916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glutamine at position 59 (E59Q)

Ref Sequence

ENSEMBL: ENSMUSP00000096761 (fasta)

Gene Model

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

AlphaFold

Q61127

Predicted Effect

probably damaging
Transcript: ENSMUST00000026469
AA Change: E59Q

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026469
Gene: ENSMUSG00000025402
AA Change: E59Q

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 damaging
Transcript: ENSMUST00000099157
AA Change: E59Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096761
Gene: ENSMUSG00000025402
AA Change: E59Q

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 damaging
Transcript: ENSMUST00000128780
AA Change: E26Q

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121737
Gene: ENSMUSG00000025402
AA Change: E26Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129252
AA Change: E26Q

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133505

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145470

Meta Mutation Damage Score

0.5630

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 93.2%

Validation Efficiency

100% (75/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	C	1: 120,099,203 (GRCm39)	S99P	possibly damaging	Het
Abca16	T	A	7: 120,139,928 (GRCm39)	I1530N	probably benign	Het
Abcc9	T	G	6: 142,610,361 (GRCm39)	Q601P	probably damaging	Het
Acap3	A	G	4: 155,980,631 (GRCm39)		probably benign	Het
Adamts16	A	T	13: 70,939,913 (GRCm39)		probably null	Het
Alpk2	G	C	18: 65,483,275 (GRCm39)	S244R	probably benign	Het
Aoc1l1	T	C	6: 48,952,398 (GRCm39)	F108L	probably damaging	Het
Atp8b1	C	T	18: 64,678,335 (GRCm39)	V854M	probably damaging	Het
Bend5	C	A	4: 111,316,960 (GRCm39)	D374E	probably benign	Het
Catsperg2	T	C	7: 29,397,671 (GRCm39)	D1014G	possibly damaging	Het
Ccer2	G	T	7: 28,456,822 (GRCm39)	G189*	probably null	Het
Ces2h	A	G	8: 105,741,118 (GRCm39)	T37A	probably benign	Het
Cfap68	C	T	9: 50,675,307 (GRCm39)	R40Q	probably damaging	Het
Cmah	T	C	13: 24,623,203 (GRCm39)	F213L	probably damaging	Het
Cntn2	T	C	1: 132,453,122 (GRCm39)	E390G	probably benign	Het
Coq7	C	T	7: 118,128,897 (GRCm39)	R46Q	possibly damaging	Het
Cpb1	T	A	3: 20,320,451 (GRCm39)	D136V	probably benign	Het
Cxcr2	T	C	1: 74,198,217 (GRCm39)	L237P	probably damaging	Het
Daam1	T	C	12: 71,998,692 (GRCm39)	L549P	unknown	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Dis3	G	T	14: 99,316,862 (GRCm39)	Q825K	probably damaging	Het
Dnah11	C	T	12: 117,982,465 (GRCm39)	R2568Q	probably damaging	Het
Dnah12	A	T	14: 26,538,279 (GRCm39)	R2312S	possibly damaging	Het
Dock9	C	T	14: 121,783,476 (GRCm39)	E2041K	probably damaging	Het
Eci1	A	G	17: 24,658,064 (GRCm39)	E282G	probably benign	Het
Egf	T	A	3: 129,484,427 (GRCm39)	T464S	probably benign	Het
Eif4g3	C	T	4: 137,824,613 (GRCm39)	P97S	probably damaging	Het
Emsy	A	G	7: 98,242,944 (GRCm39)	V1065A	possibly damaging	Het
Ep400	G	T	5: 110,856,032 (GRCm39)		probably benign	Het
Fam13a	A	C	6: 58,916,332 (GRCm39)	I607S	probably damaging	Het
Fam241b	A	G	10: 61,944,728 (GRCm39)	S113P	probably damaging	Het
Fbxl21	A	T	13: 56,671,340 (GRCm39)	M1L	probably benign	Het
Fnip2	C	A	3: 79,389,072 (GRCm39)	C553F	probably damaging	Het
Frmd3	G	T	4: 73,931,995 (GRCm39)		probably benign	Het
Grm4	G	A	17: 27,653,775 (GRCm39)	S470L	probably benign	Het
Gucy2e	T	A	11: 69,117,070 (GRCm39)	I784F	probably damaging	Het
H1f10	T	C	6: 87,958,130 (GRCm39)	Y70C	probably damaging	Het
Hmcn2	A	T	2: 31,310,419 (GRCm39)	T3338S	possibly damaging	Het
Idh1	C	T	1: 65,207,697 (GRCm39)	G161R	probably damaging	Het
Idi1	T	C	13: 8,936,945 (GRCm39)		probably benign	Het
Idi2l	A	T	13: 8,990,680 (GRCm39)		probably benign	Het
Kcnq2	C	T	2: 180,776,618 (GRCm39)	G90S	probably damaging	Het
Klhl29	A	G	12: 5,134,486 (GRCm39)	Y642H	probably damaging	Het
Lmtk3	T	A	7: 45,443,994 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,334,486 (GRCm39)	F4420I	probably benign	Het
Me1	A	G	9: 86,469,096 (GRCm39)	S470P	probably damaging	Het
Mfsd2b	A	G	12: 4,920,605 (GRCm39)	S71P	probably damaging	Het
Mfsd3	T	C	15: 76,586,979 (GRCm39)	L273P	probably damaging	Het
Mical1	A	G	10: 41,361,207 (GRCm39)	K757R	possibly damaging	Het
Myh9	A	T	15: 77,662,013 (GRCm39)	V782D	probably damaging	Het
Nfyc	A	T	4: 120,618,921 (GRCm39)	N244K	probably damaging	Het
Nupr2	A	G	5: 129,937,672 (GRCm39)	I80M	probably damaging	Het
Or4c15b	T	C	2: 89,113,401 (GRCm39)	I46M	probably benign	Het
Or51f1d	A	G	7: 102,700,576 (GRCm39)	T24A	probably benign	Het
Or5a1	A	G	19: 12,097,696 (GRCm39)	C115R	probably damaging	Het
Pkn3	A	G	2: 29,977,065 (GRCm39)	T602A	probably benign	Het
Prrc2b	T	A	2: 32,094,301 (GRCm39)	V561D	probably benign	Het
Psd2	T	A	18: 36,138,843 (GRCm39)	V489E	probably benign	Het
Rasal2	T	C	1: 157,057,629 (GRCm39)	T181A	probably benign	Het
Serpinb13	T	C	1: 106,909,886 (GRCm39)	M1T	probably null	Het
Sgsm1	A	T	5: 113,411,135 (GRCm39)	S864T	possibly damaging	Het
Slc5a10	C	A	11: 61,564,767 (GRCm39)	G404V	possibly damaging	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Son	A	G	16: 91,456,622 (GRCm39)	K1790E	probably damaging	Het
Spata31e5	T	C	1: 28,816,505 (GRCm39)	E509G	probably damaging	Het
Syde2	A	G	3: 145,708,176 (GRCm39)		probably benign	Het
Tmem126a	T	C	7: 90,102,026 (GRCm39)	I58V	probably benign	Het
Vmn2r8	T	C	5: 108,950,040 (GRCm39)	Y269C	probably damaging	Het
Wdr87-ps	C	T	7: 29,229,004 (GRCm39)		noncoding transcript	Het
Yeats2	T	A	16: 20,008,115 (GRCm39)	S416T	probably damaging	Het
Zfp40	A	T	17: 23,394,843 (GRCm39)	H513Q	probably damaging	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
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
R6018:Nab2	UTSW	10	127,500,793 (GRCm39)	nonsense	probably null
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'- GAGTGGCGACAACTTCTCTCCAAG -3'
(R):5'- TCCTGATAGCTTAGGTCGGGCAAC -3'

Sequencing Primer
(F):5'- GCTAAAGCTTCGAGCACTG -3'
(R):5'- CAACCGGCCTTCTGTGC -3'

Posted On

2014-04-13