Mutagenetix > Incidental Mutation

Incidental Mutation 'R8293:Nab2'

638808

Institutional Source

Beutler Lab

Gene Symbol

Nab2

Ensembl Gene

ENSMUSG00000025402

Gene Name

Ngfi-A binding protein 2

Synonyms

MMRRC Submission

067783-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127496787-127502572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 127502266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 21 (R21L)

Ref Sequence

ENSEMBL: ENSMUSP00000026469 (fasta)

Gene Model

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

AlphaFold

Q61127

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026469
AA Change: R21L

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026469
Gene: ENSMUSG00000025402
AA Change: R21L

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 damaging
Transcript: ENSMUST00000099157
AA Change: R21L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096761
Gene: ENSMUSG00000025402
AA Change: R21L

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (58/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,061,864 (GRCm39)	S105P	possibly damaging	Het
Acsm1	T	G	7: 119,237,319 (GRCm39)	S211A	possibly damaging	Het
Adam4	T	A	12: 81,467,185 (GRCm39)	R479*	probably null	Het
Agap3	A	C	5: 24,692,883 (GRCm39)	S439R	probably damaging	Het
Arap1	A	T	7: 101,050,141 (GRCm39)	H1075L	probably benign	Het
Arhgef28	T	C	13: 98,079,029 (GRCm39)	E1299G	probably benign	Het
Bnip5	T	C	17: 29,121,864 (GRCm39)	K468E	probably benign	Het
Cc2d2a	A	T	5: 43,845,570 (GRCm39)	I329F	probably damaging	Het
Ccdc9b	T	A	2: 118,591,796 (GRCm39)	T115S	probably damaging	Het
Cd200r1	A	G	16: 44,610,084 (GRCm39)	N101S	probably benign	Het
Ces2b	A	C	8: 105,559,258 (GRCm39)	T40P	unknown	Het
Cfap221	A	G	1: 119,909,504 (GRCm39)	V156A	possibly damaging	Het
Chrm4	C	T	2: 91,758,563 (GRCm39)	P324S	probably benign	Het
Chrna1	T	A	2: 73,400,850 (GRCm39)	M227L	probably benign	Het
Cntln	A	G	4: 84,952,075 (GRCm39)	D639G	probably damaging	Het
Cts8	A	G	13: 61,401,882 (GRCm39)	V5A	probably benign	Het
Cxcl2	A	T	5: 91,052,088 (GRCm39)	T65S	probably damaging	Het
Cyp2c39	G	T	19: 39,552,411 (GRCm39)	R368L	probably benign	Het
D630023F18Rik	A	T	1: 65,147,939 (GRCm39)	S205T	probably benign	Het
Dagla	A	T	19: 10,229,401 (GRCm39)		probably null	Het
Dtnbp1	G	A	13: 45,084,615 (GRCm39)	T175I	probably benign	Het
Dtx3	A	G	10: 127,026,882 (GRCm39)	L332P	probably damaging	Het
E2f4	A	G	8: 106,024,451 (GRCm39)	T27A	probably damaging	Het
Ep400	A	G	5: 110,856,758 (GRCm39)	F1163L	unknown	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 75,874,624 (GRCm39)		probably benign	Het
Fbxo40	T	C	16: 36,790,387 (GRCm39)	D241G	probably benign	Het
Fus	T	C	7: 127,571,749 (GRCm39)	S184P	unknown	Het
Gabarap	C	A	11: 69,883,498 (GRCm39)	T87N	possibly damaging	Het
Gbp10	A	C	5: 105,372,235 (GRCm39)	V175G	probably damaging	Het
Gcm2	A	G	13: 41,256,646 (GRCm39)	Y368H	probably damaging	Het
Heca	A	G	10: 17,778,011 (GRCm39)	Y529H	probably damaging	Het
Incenp	G	A	19: 9,852,497 (GRCm39)	R714*	probably null	Het
Lvrn	C	A	18: 46,983,632 (GRCm39)	T125K	possibly damaging	Het
Ms4a6c	T	A	19: 11,455,660 (GRCm39)	S156R	probably benign	Het
Neb	A	T	2: 52,136,827 (GRCm39)	M3218K	probably benign	Het
Nwd2	A	G	5: 63,962,663 (GRCm39)	D749G	probably benign	Het
Nxpe5	A	T	5: 138,228,804 (GRCm39)	Q7L	probably benign	Het
Or10ak12	T	A	4: 118,666,939 (GRCm39)	T41S	probably benign	Het
Or4f62	A	T	2: 111,986,598 (GRCm39)	M101L	probably benign	Het
Or5p4	A	T	7: 107,680,269 (GRCm39)	E89D	probably benign	Het
Or8g26	A	G	9: 39,095,689 (GRCm39)	I72V	possibly damaging	Het
Pla2g5	A	G	4: 138,531,917 (GRCm39)	I29T	probably damaging	Het
Prpf31	C	T	7: 3,643,917 (GRCm39)	T499I	probably damaging	Het
Rnf130	T	A	11: 49,986,623 (GRCm39)	D322E	probably benign	Het
Ros1	T	C	10: 51,964,014 (GRCm39)	N1770D	probably damaging	Het
Sacs	T	A	14: 61,428,548 (GRCm39)	D202E	probably damaging	Het
Simc1	A	G	13: 54,674,359 (GRCm39)	I902M	probably damaging	Het
Slc12a8	A	T	16: 33,361,348 (GRCm39)	M77L	probably benign	Het
Slc35f2	G	A	9: 53,724,224 (GRCm39)	G366D	probably benign	Het
Slc44a2	A	G	9: 21,264,984 (GRCm39)	D674G	probably damaging	Het
Smok2a	A	C	17: 13,445,791 (GRCm39)	E456A	probably benign	Het
Stip1	T	C	19: 7,011,618 (GRCm39)	N139S	probably benign	Het
Taar8c	C	T	10: 23,977,015 (GRCm39)	V266M	probably benign	Het
Tank	T	A	2: 61,474,758 (GRCm39)	I204N	possibly damaging	Het
Tcerg1	A	G	18: 42,694,020 (GRCm39)	T714A	probably benign	Het
Tenm3	A	T	8: 48,820,457 (GRCm39)	F334I	possibly damaging	Het
Ubr1	T	C	2: 120,693,202 (GRCm39)	I1735V	probably benign	Het
Vps13a	A	T	19: 16,645,969 (GRCm39)	S2023T	possibly damaging	Het
Wdfy4	T	C	14: 32,696,218 (GRCm39)	H2741R		Het
Wnt10a	G	T	1: 74,842,376 (GRCm39)	R284L	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
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
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
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'- TTCCAGGATCCCCTATTTCGAAT -3'
(R):5'- AGTCTCCACAGCAGCCTC -3'

Sequencing Primer
(F):5'- AGGATCCCCTATTTCGAATACTCAC -3'
(R):5'- CCTCTCCAAGGCTCAGGC -3'

Posted On

2020-07-28