Incidental Mutation 'IGL01553:Niban3'
| ID |
90645 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Niban3
|
| Ensembl Gene |
ENSMUSG00000043243 |
| Gene Name |
niban apoptosis regulator 3 |
| Synonyms |
Fam129c, Bcnp1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01553
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
72050292-72060580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 72055546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 319
(A319S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000125339]
[ENSMUST00000126559]
[ENSMUST00000127626]
[ENSMUST00000143662]
|
| AlphaFold |
D3YZB0 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124485
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125339
|
| SMART Domains |
Protein: ENSMUSP00000119708
Gene: ENSMUSG00000043243
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
119 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125525
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127285
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127626
|
| SMART Domains |
Protein: ENSMUSP00000122042
Gene: ENSMUSG00000031807
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glucosamine_iso
|
18 |
214 |
7.2e-62 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132891
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143662
AA Change: A319S
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123432
Gene: ENSMUSG00000043243
AA Change: A319S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
|
PH
|
68 |
196 |
4.94e-4 |
SMART |
|
low complexity region
|
218 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
437 |
448 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141594
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c13 |
T |
A |
13: 4,244,774 (GRCm39) |
H117Q |
probably damaging |
Het |
| Arhgap44 |
T |
C |
11: 64,943,944 (GRCm39) |
N188S |
probably damaging |
Het |
| Bach1 |
T |
A |
16: 87,519,393 (GRCm39) |
I561N |
probably damaging |
Het |
| Bsph2 |
G |
T |
7: 13,290,645 (GRCm39) |
T78K |
probably damaging |
Het |
| Ccdc178 |
A |
G |
18: 22,048,063 (GRCm39) |
Y776H |
probably damaging |
Het |
| Ccdc7a |
T |
C |
8: 129,753,072 (GRCm39) |
|
probably benign |
Het |
| Cenpp |
C |
T |
13: 49,618,252 (GRCm39) |
V218M |
probably damaging |
Het |
| Dnmt3l |
A |
G |
10: 77,899,082 (GRCm39) |
S94G |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,833,803 (GRCm39) |
Y1839* |
probably null |
Het |
| Gabra6 |
T |
A |
11: 42,206,023 (GRCm39) |
T278S |
probably damaging |
Het |
| Galnt11 |
G |
A |
5: 25,452,718 (GRCm39) |
D77N |
probably benign |
Het |
| Gm17175 |
T |
C |
14: 51,808,279 (GRCm39) |
D171G |
probably benign |
Het |
| Iqch |
T |
C |
9: 63,408,199 (GRCm39) |
N655S |
probably benign |
Het |
| Kdm1b |
T |
A |
13: 47,234,024 (GRCm39) |
I786N |
probably damaging |
Het |
| Macf1 |
G |
A |
4: 123,386,956 (GRCm39) |
Q976* |
probably null |
Het |
| Mbtd1 |
T |
A |
11: 93,814,040 (GRCm39) |
C228S |
probably benign |
Het |
| Myo10 |
T |
C |
15: 25,776,415 (GRCm39) |
L46P |
probably damaging |
Het |
| Nup133 |
A |
G |
8: 124,642,063 (GRCm39) |
V800A |
possibly damaging |
Het |
| Or5h23 |
G |
T |
16: 58,906,685 (GRCm39) |
H54N |
probably benign |
Het |
| Prkca |
C |
T |
11: 107,948,660 (GRCm39) |
G110R |
probably benign |
Het |
| Samd9l |
A |
T |
6: 3,375,566 (GRCm39) |
M565K |
probably damaging |
Het |
| Scgn |
T |
C |
13: 24,143,662 (GRCm39) |
Q77R |
probably benign |
Het |
| Serpinb6b |
T |
C |
13: 33,158,931 (GRCm39) |
L44P |
probably damaging |
Het |
| Tfrc |
T |
C |
16: 32,447,403 (GRCm39) |
V673A |
probably benign |
Het |
| Tsfm |
G |
A |
10: 126,864,259 (GRCm39) |
T152M |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,047,897 (GRCm39) |
C1803S |
probably benign |
Het |
|
| Other mutations in Niban3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00985:Niban3
|
APN |
8 |
72,057,507 (GRCm39) |
splice site |
probably benign |
|
|
IGL01530:Niban3
|
APN |
8 |
72,056,561 (GRCm39) |
splice site |
probably benign |
|
|
IGL02313:Niban3
|
APN |
8 |
72,055,504 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02341:Niban3
|
APN |
8 |
72,056,443 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02541:Niban3
|
APN |
8 |
72,055,426 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02745:Niban3
|
APN |
8 |
72,057,682 (GRCm39) |
splice site |
probably null |
|
|
R0006:Niban3
|
UTSW |
8 |
72,057,688 (GRCm39) |
splice site |
probably benign |
|
|
R0391:Niban3
|
UTSW |
8 |
72,055,143 (GRCm39) |
splice site |
probably benign |
|
|
R0594:Niban3
|
UTSW |
8 |
72,051,779 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1208:Niban3
|
UTSW |
8 |
72,053,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1208:Niban3
|
UTSW |
8 |
72,053,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1643:Niban3
|
UTSW |
8 |
72,052,808 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1848:Niban3
|
UTSW |
8 |
72,056,413 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1986:Niban3
|
UTSW |
8 |
72,056,404 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2319:Niban3
|
UTSW |
8 |
72,055,408 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4386:Niban3
|
UTSW |
8 |
72,060,155 (GRCm39) |
intron |
probably benign |
|
|
R4564:Niban3
|
UTSW |
8 |
72,057,704 (GRCm39) |
intron |
probably benign |
|
|
R4666:Niban3
|
UTSW |
8 |
72,056,469 (GRCm39) |
nonsense |
probably null |
|
|
R6341:Niban3
|
UTSW |
8 |
72,052,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Niban3
|
UTSW |
8 |
72,051,733 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6888:Niban3
|
UTSW |
8 |
72,056,383 (GRCm39) |
missense |
probably benign |
|
|
R6890:Niban3
|
UTSW |
8 |
72,058,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7383:Niban3
|
UTSW |
8 |
72,056,470 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7441:Niban3
|
UTSW |
8 |
72,052,808 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7459:Niban3
|
UTSW |
8 |
72,057,671 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7527:Niban3
|
UTSW |
8 |
72,059,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7873:Niban3
|
UTSW |
8 |
72,054,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8698:Niban3
|
UTSW |
8 |
72,060,159 (GRCm39) |
missense |
unknown |
|
|
R8936:Niban3
|
UTSW |
8 |
72,060,307 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9272:Niban3
|
UTSW |
8 |
72,055,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation