Incidental Mutation 'R6381:Nab2'
| ID |
515323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nab2
|
| Ensembl Gene |
ENSMUSG00000025402 |
| Gene Name |
Ngfi-A binding protein 2 |
| Synonyms |
|
| MMRRC Submission |
044530-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6381 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127496787-127502572 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127500220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 291
(K291E)
|
| 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: K291E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000026469
Gene: ENSMUSG00000025402
AA Change: K291E
| 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: K291E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096761
Gene: ENSMUSG00000025402
AA Change: K291E
| 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: ENSMUST00000133270
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145470
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133505
|
| Meta Mutation Damage Score |
0.4652 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
97% (56/58) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
T |
A |
18: 70,600,788 (GRCm39) |
M365L |
probably damaging |
Het |
| Aars2 |
A |
G |
17: 45,829,471 (GRCm39) |
E786G |
probably benign |
Het |
| Adamts12 |
G |
T |
15: 11,257,080 (GRCm39) |
V478F |
possibly damaging |
Het |
| Akr1c21 |
T |
A |
13: 4,624,183 (GRCm39) |
D12E |
probably damaging |
Het |
| Aplf |
A |
T |
6: 87,635,959 (GRCm39) |
M118K |
probably damaging |
Het |
| Apobec1 |
A |
G |
6: 122,555,890 (GRCm39) |
L189P |
probably damaging |
Het |
| BC061237 |
A |
G |
14: 44,741,713 (GRCm39) |
Q152R |
possibly damaging |
Het |
| Bche |
A |
G |
3: 73,609,132 (GRCm39) |
I98T |
probably benign |
Het |
| Cc2d2a |
G |
T |
5: 43,873,118 (GRCm39) |
R983L |
possibly damaging |
Het |
| Ccnd3 |
T |
C |
17: 47,816,149 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
G |
T |
18: 60,944,435 (GRCm39) |
C215F |
probably damaging |
Het |
| Cep97 |
C |
T |
16: 55,742,534 (GRCm39) |
A138T |
probably damaging |
Het |
| Ces1e |
T |
A |
8: 93,944,206 (GRCm39) |
N204I |
probably damaging |
Het |
| Dicer1 |
T |
C |
12: 104,662,721 (GRCm39) |
D1620G |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,020,011 (GRCm39) |
V12A |
probably benign |
Het |
| Dstyk |
T |
A |
1: 132,384,503 (GRCm39) |
|
probably null |
Het |
| Elapor1 |
T |
C |
3: 108,389,130 (GRCm39) |
K222E |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Entr1 |
A |
G |
2: 26,275,093 (GRCm39) |
|
probably null |
Het |
| Gm10570 |
G |
T |
4: 130,202,021 (GRCm39) |
|
probably benign |
Het |
| Gm7145 |
C |
T |
1: 117,913,669 (GRCm39) |
Q184* |
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gtse1 |
G |
A |
15: 85,746,349 (GRCm39) |
R55H |
probably benign |
Het |
| Hdac4 |
G |
T |
1: 91,912,247 (GRCm39) |
Q381K |
possibly damaging |
Het |
| Ifit3b |
T |
C |
19: 34,589,871 (GRCm39) |
I349T |
probably benign |
Het |
| Inpp5a |
A |
T |
7: 138,980,589 (GRCm39) |
D9V |
probably benign |
Het |
| Irs1 |
T |
C |
1: 82,265,405 (GRCm39) |
N937S |
possibly damaging |
Het |
| Kcna4 |
T |
C |
2: 107,125,317 (GRCm39) |
M17T |
probably benign |
Het |
| Lipa |
T |
A |
19: 34,502,146 (GRCm39) |
M33L |
probably benign |
Het |
| Marchf6 |
G |
T |
15: 31,467,838 (GRCm39) |
Q790K |
probably benign |
Het |
| Mccc1 |
G |
A |
3: 36,030,876 (GRCm39) |
P397S |
probably benign |
Het |
| Mrgprb2 |
T |
C |
7: 48,202,138 (GRCm39) |
I196V |
probably benign |
Het |
| Myh15 |
T |
A |
16: 48,921,844 (GRCm39) |
S463R |
probably damaging |
Het |
| Neto2 |
T |
C |
8: 86,369,138 (GRCm39) |
T294A |
probably damaging |
Het |
| Nkx1-1 |
T |
C |
5: 33,591,320 (GRCm39) |
M1V |
probably null |
Het |
| Or2h2 |
C |
T |
17: 37,396,977 (GRCm39) |
V27I |
probably benign |
Het |
| Pla2g4c |
C |
T |
7: 13,077,933 (GRCm39) |
T357I |
probably benign |
Het |
| Psmd2 |
A |
G |
16: 20,474,023 (GRCm39) |
E242G |
probably benign |
Het |
| Rnase12 |
A |
C |
14: 51,294,551 (GRCm39) |
Y43D |
probably damaging |
Het |
| Rpl18 |
T |
A |
7: 45,369,016 (GRCm39) |
F58I |
probably damaging |
Het |
| Ryr1 |
T |
G |
7: 28,774,682 (GRCm39) |
M2313L |
possibly damaging |
Het |
| Scn4a |
G |
T |
11: 106,211,137 (GRCm39) |
Q1627K |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,366,722 (GRCm39) |
S640G |
probably benign |
Het |
| Sdr9c7 |
T |
A |
10: 127,739,542 (GRCm39) |
M219K |
probably benign |
Het |
| Soat1 |
A |
T |
1: 156,263,373 (GRCm39) |
M392K |
probably damaging |
Het |
| Spata18 |
G |
T |
5: 73,832,559 (GRCm39) |
K337N |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,417,003 (GRCm39) |
V325A |
probably benign |
Het |
| Syt2 |
A |
G |
1: 134,674,588 (GRCm39) |
E342G |
probably damaging |
Het |
| Tars2 |
A |
T |
3: 95,661,799 (GRCm39) |
L37* |
probably null |
Het |
| Tep1 |
T |
C |
14: 51,082,888 (GRCm39) |
D1040G |
probably damaging |
Het |
| Tmc8 |
A |
T |
11: 117,682,426 (GRCm39) |
S613C |
probably null |
Het |
| Top3a |
C |
T |
11: 60,634,849 (GRCm39) |
C660Y |
probably damaging |
Het |
| Tpsg1 |
C |
T |
17: 25,591,543 (GRCm39) |
R48C |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,078,242 (GRCm39) |
N72S |
probably benign |
Het |
| Whrn |
G |
A |
4: 63,390,921 (GRCm39) |
T269I |
probably benign |
Het |
| Zfp759 |
T |
A |
13: 67,286,969 (GRCm39) |
Y173* |
probably null |
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 |
|
|
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'- TCGTGGGGACAGTCATACAGAG -3'
(R):5'- AATCTGATGTTGGAGCAGGG -3'
Sequencing Primer
(F):5'- CAGTCATACAGAGGTGGAAGAC -3'
(R):5'- AGGAGTCTCTGAAGGGCCTG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation