Incidental Mutation 'R2395:Nab1'
| ID |
248476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nab1
|
| Ensembl Gene |
ENSMUSG00000002881 |
| Gene Name |
Ngfi-A binding protein 1 |
| Synonyms |
|
| MMRRC Submission |
040363-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2395 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
52496453-52539838 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52529741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 52
(I52T)
|
| 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: I52T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066696
Gene: ENSMUSG00000002881
AA Change: I52T
| 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: I52T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131239
Gene: ENSMUSG00000002881
AA Change: I52T
| 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: I52T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141191
Gene: ENSMUSG00000002881
AA Change: I52T
| 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 |
0.9219 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (30/30) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,959,614 (GRCm39) |
Y707H |
probably damaging |
Het |
| Abcc3 |
A |
G |
11: 94,248,132 (GRCm39) |
V1156A |
possibly damaging |
Het |
| Acsl3 |
T |
C |
1: 78,683,085 (GRCm39) |
V661A |
probably benign |
Het |
| Atosb |
C |
A |
4: 43,035,964 (GRCm39) |
E256* |
probably null |
Het |
| B3glct |
A |
G |
5: 149,677,651 (GRCm39) |
T427A |
probably damaging |
Het |
| Cblc |
C |
A |
7: 19,519,305 (GRCm39) |
C341F |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,454,110 (GRCm39) |
S299G |
probably benign |
Het |
| Dcp1b |
T |
C |
6: 119,192,025 (GRCm39) |
S314P |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,068,950 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
A |
G |
2: 113,195,526 (GRCm39) |
T409A |
unknown |
Het |
| Hltf |
C |
T |
3: 20,146,906 (GRCm39) |
A555V |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,520,150 (GRCm39) |
I1987V |
probably benign |
Het |
| Map3k10 |
T |
C |
7: 27,373,418 (GRCm39) |
E11G |
unknown |
Het |
| Micu1 |
G |
T |
10: 59,699,024 (GRCm39) |
E434* |
probably null |
Het |
| Mlph |
A |
G |
1: 90,861,228 (GRCm39) |
T288A |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,255,748 (GRCm39) |
E1679G |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,889,877 (GRCm39) |
N156S |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,559,614 (GRCm39) |
H1130R |
possibly damaging |
Het |
| Or10al2 |
T |
G |
17: 37,983,587 (GRCm39) |
Y224* |
probably null |
Het |
| Or8k23 |
A |
G |
2: 86,186,609 (GRCm39) |
V39A |
probably benign |
Het |
| P2rx2 |
A |
G |
5: 110,489,527 (GRCm39) |
Y136H |
probably damaging |
Het |
| Phf8-ps |
T |
C |
17: 33,284,936 (GRCm39) |
E622G |
probably benign |
Het |
| Prss40 |
A |
G |
1: 34,598,986 (GRCm39) |
V59A |
possibly damaging |
Het |
| Riox1 |
A |
T |
12: 83,997,418 (GRCm39) |
|
probably null |
Het |
| Rxrb |
T |
G |
17: 34,256,412 (GRCm39) |
C384W |
probably damaging |
Het |
| Srebf2 |
C |
T |
15: 82,076,456 (GRCm39) |
T702I |
probably benign |
Het |
| Tmprss5 |
T |
A |
9: 49,026,435 (GRCm39) |
L373* |
probably null |
Het |
| Trpm2 |
A |
C |
10: 77,783,714 (GRCm39) |
I253S |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,679,237 (GRCm39) |
T4815I |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,506,975 (GRCm39) |
M779K |
probably damaging |
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 |
|
R4354:Nab1
|
UTSW |
1 |
52,529,855 (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'- GCAGTGCTAAACTTCCCACTTC -3'
(R):5'- AGCCCATCCACAGTAATGGC -3'
Sequencing Primer
(F):5'- TATTGCAGGATATCCCCAGCCATG -3'
(R):5'- TCCACAGTAATGGCCACAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation