Incidental Mutation 'R4354:Nab1'
| ID |
327440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nab1
|
| Ensembl Gene |
ENSMUSG00000002881 |
| Gene Name |
Ngfi-A binding protein 1 |
| Synonyms |
|
| MMRRC Submission |
041107-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4354 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
52496453-52539838 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52529855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 14
(L14Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069792]
[ENSMUST00000170269]
[ENSMUST00000186764]
|
| AlphaFold |
Q61122 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069792
AA Change: L14Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066696
Gene: ENSMUSG00000002881
AA Change: L14Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NCD1
|
5 |
83 |
1.6e-44 |
PFAM |
|
low complexity region
|
113 |
122 |
N/A |
INTRINSIC |
|
Pfam:NCD2
|
155 |
317 |
3.2e-68 |
PFAM |
|
Pfam:Nab1
|
321 |
485 |
4.4e-55 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168082
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170269
AA Change: L14Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131239
Gene: ENSMUSG00000002881
AA Change: L14Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NCD1
|
3 |
84 |
2.5e-50 |
PFAM |
|
low complexity region
|
113 |
122 |
N/A |
INTRINSIC |
|
Pfam:NCD2
|
163 |
319 |
8.4e-84 |
PFAM |
|
Pfam:Nab1
|
333 |
456 |
9e-79 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186764
AA Change: L14Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141191
Gene: ENSMUSG00000002881
AA Change: L14Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NCD1
|
3 |
84 |
2.1e-46 |
PFAM |
|
low complexity region
|
113 |
122 |
N/A |
INTRINSIC |
|
Pfam:NCD2
|
163 |
319 |
7.1e-80 |
PFAM |
|
Pfam:Nab1
|
321 |
485 |
9.2e-101 |
PFAM |
|
| Meta Mutation Damage Score |
0.9694 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| Abca8b |
A |
C |
11: 109,862,518 (GRCm39) |
S416A |
probably benign |
Het |
| Abcb4 |
A |
T |
5: 8,968,771 (GRCm39) |
N370I |
probably benign |
Het |
| Abi3bp |
T |
C |
16: 56,353,314 (GRCm39) |
F81S |
probably benign |
Het |
| Ablim1 |
C |
T |
19: 57,143,710 (GRCm39) |
C83Y |
probably damaging |
Het |
| Adamtsl1 |
A |
T |
4: 86,074,921 (GRCm39) |
H96L |
probably damaging |
Het |
| Alms1-ps1 |
C |
T |
6: 85,732,617 (GRCm39) |
|
noncoding transcript |
Het |
| AU040320 |
A |
G |
4: 126,748,192 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
T |
A |
17: 17,610,263 (GRCm39) |
H472Q |
probably benign |
Het |
| Chgb |
A |
T |
2: 132,635,864 (GRCm39) |
D602V |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gpa33 |
A |
G |
1: 165,991,404 (GRCm39) |
T212A |
possibly damaging |
Het |
| Hspg2 |
C |
A |
4: 137,196,222 (GRCm39) |
A17E |
probably benign |
Het |
| Irf7 |
T |
C |
7: 140,845,183 (GRCm39) |
R8G |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,483,123 (GRCm39) |
Y1235H |
probably damaging |
Het |
| Mon2 |
T |
C |
10: 122,862,888 (GRCm39) |
T680A |
probably benign |
Het |
| Neu4 |
C |
T |
1: 93,952,279 (GRCm39) |
T216I |
probably damaging |
Het |
| Nle1 |
A |
G |
11: 82,797,257 (GRCm39) |
C152R |
possibly damaging |
Het |
| Nprl3 |
T |
A |
11: 32,184,906 (GRCm39) |
M368L |
probably benign |
Het |
| Nudt9 |
A |
G |
5: 104,205,977 (GRCm39) |
K129E |
probably damaging |
Het |
| Or5c1 |
T |
C |
2: 37,221,888 (GRCm39) |
L43P |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,333,913 (GRCm39) |
D36G |
probably benign |
Het |
| Pga5 |
C |
T |
19: 10,652,190 (GRCm39) |
|
probably null |
Het |
| Pold3 |
T |
C |
7: 99,749,824 (GRCm39) |
K47E |
possibly damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,843,378 (GRCm39) |
I251V |
probably benign |
Het |
| Susd2 |
G |
T |
10: 75,475,562 (GRCm39) |
F447L |
probably damaging |
Het |
| Tbc1d7 |
T |
C |
13: 43,323,344 (GRCm39) |
K16E |
probably damaging |
Het |
| Tlr8 |
T |
G |
X: 166,025,868 (GRCm39) |
Q994P |
probably damaging |
Het |
| Ube2j1 |
T |
C |
4: 33,049,682 (GRCm39) |
Y227H |
probably benign |
Het |
|
| Other mutations in Nab1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02633:Nab1
|
APN |
1 |
52,529,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03083:Nab1
|
APN |
1 |
52,529,429 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0464:Nab1
|
UTSW |
1 |
52,529,174 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1162:Nab1
|
UTSW |
1 |
52,529,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2395:Nab1
|
UTSW |
1 |
52,529,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6369:Nab1
|
UTSW |
1 |
52,529,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6379:Nab1
|
UTSW |
1 |
52,520,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6913:Nab1
|
UTSW |
1 |
52,503,995 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7050:Nab1
|
UTSW |
1 |
52,529,894 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R7233:Nab1
|
UTSW |
1 |
52,498,378 (GRCm39) |
makesense |
probably null |
|
|
R7378:Nab1
|
UTSW |
1 |
52,520,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7968:Nab1
|
UTSW |
1 |
52,529,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8197:Nab1
|
UTSW |
1 |
52,529,127 (GRCm39) |
nonsense |
probably null |
|
|
R8924:Nab1
|
UTSW |
1 |
52,529,667 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9010:Nab1
|
UTSW |
1 |
52,529,610 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9200:Nab1
|
UTSW |
1 |
52,529,525 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9788:Nab1
|
UTSW |
1 |
52,529,166 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
RF003:Nab1
|
UTSW |
1 |
52,518,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTCAAAGCCTTCTGAAGC -3'
(R):5'- GGGTGCATCTTGAACTACCAG -3'
Sequencing Primer
(F):5'- CTTCTGAAGCCTTCTAACGTGAAG -3'
(R):5'- GAACTACCAGTTGCTTTGCAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation