Incidental Mutation 'IGL01072:Niban2'
| ID |
50418 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Niban2
|
| Ensembl Gene |
ENSMUSG00000026796 |
| Gene Name |
niban apoptosis regulator 2 |
| Synonyms |
9130404D14Rik, Fam129b |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
IGL01072
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
32766146-32815265 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 32802427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028135]
[ENSMUST00000138781]
|
| AlphaFold |
Q8R1F1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028135
|
| SMART Domains |
Protein: ENSMUSP00000028135
Gene: ENSMUSG00000026796
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
69 |
194 |
1.81e-2 |
SMART |
|
low complexity region
|
594 |
607 |
N/A |
INTRINSIC |
|
low complexity region
|
685 |
700 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125347
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138781
|
| SMART Domains |
Protein: ENSMUSP00000114232
Gene: ENSMUSG00000026796
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
53 |
83 |
2e-15 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154514
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc65 |
A |
T |
15: 98,606,277 (GRCm39) |
M1L |
unknown |
Het |
| Cyp3a44 |
T |
C |
5: 145,728,438 (GRCm39) |
D262G |
probably benign |
Het |
| Dmbt1 |
C |
T |
7: 130,687,098 (GRCm39) |
|
probably benign |
Het |
| Dnmt3l |
A |
G |
10: 77,888,605 (GRCm39) |
N169S |
probably benign |
Het |
| Fbxw26 |
A |
T |
9: 109,552,905 (GRCm39) |
F290I |
probably damaging |
Het |
| Foxj3 |
A |
G |
4: 119,467,226 (GRCm39) |
M190V |
probably benign |
Het |
| Gm7275 |
T |
C |
16: 47,894,519 (GRCm39) |
|
noncoding transcript |
Het |
| Ly75 |
T |
A |
2: 60,184,840 (GRCm39) |
D438V |
probably damaging |
Het |
| Lzts3 |
T |
C |
2: 130,477,365 (GRCm39) |
E475G |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,846,444 (GRCm39) |
Y1375* |
probably null |
Het |
| Ndufc2 |
T |
A |
7: 97,049,490 (GRCm39) |
V32D |
probably damaging |
Het |
| Nf2 |
A |
C |
11: 4,739,713 (GRCm39) |
L431R |
probably null |
Het |
| Ptpn9 |
C |
T |
9: 56,943,987 (GRCm39) |
T287I |
possibly damaging |
Het |
| Rictor |
A |
G |
15: 6,819,043 (GRCm39) |
D1422G |
probably damaging |
Het |
| Rpp40 |
C |
A |
13: 36,086,017 (GRCm39) |
G115C |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,540,157 (GRCm39) |
V522A |
probably benign |
Het |
| Scgb1b24 |
A |
T |
7: 33,443,434 (GRCm39) |
D31V |
probably damaging |
Het |
| Trrap |
C |
A |
5: 144,721,065 (GRCm39) |
|
probably benign |
Het |
| Vmn1r214 |
T |
C |
13: 23,219,300 (GRCm39) |
Y265H |
possibly damaging |
Het |
|
| Other mutations in Niban2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00543:Niban2
|
APN |
2 |
32,802,483 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01874:Niban2
|
APN |
2 |
32,795,779 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02302:Niban2
|
APN |
2 |
32,811,135 (GRCm39) |
missense |
probably benign |
|
|
IGL02681:Niban2
|
APN |
2 |
32,801,402 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03126:Niban2
|
APN |
2 |
32,766,398 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03240:Niban2
|
APN |
2 |
32,812,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0125:Niban2
|
UTSW |
2 |
32,813,833 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0948:Niban2
|
UTSW |
2 |
32,812,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1195:Niban2
|
UTSW |
2 |
32,809,815 (GRCm39) |
missense |
probably benign |
|
|
R1195:Niban2
|
UTSW |
2 |
32,809,815 (GRCm39) |
missense |
probably benign |
|
|
R1195:Niban2
|
UTSW |
2 |
32,809,815 (GRCm39) |
missense |
probably benign |
|
|
R2130:Niban2
|
UTSW |
2 |
32,813,659 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2408:Niban2
|
UTSW |
2 |
32,813,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4881:Niban2
|
UTSW |
2 |
32,812,590 (GRCm39) |
nonsense |
probably null |
|
|
R5506:Niban2
|
UTSW |
2 |
32,810,994 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5748:Niban2
|
UTSW |
2 |
32,809,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5857:Niban2
|
UTSW |
2 |
32,799,920 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6011:Niban2
|
UTSW |
2 |
32,812,877 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6088:Niban2
|
UTSW |
2 |
32,813,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6720:Niban2
|
UTSW |
2 |
32,795,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6763:Niban2
|
UTSW |
2 |
32,801,460 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6769:Niban2
|
UTSW |
2 |
32,785,666 (GRCm39) |
|
|
|
|
R7296:Niban2
|
UTSW |
2 |
32,812,654 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7769:Niban2
|
UTSW |
2 |
32,809,844 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7888:Niban2
|
UTSW |
2 |
32,812,137 (GRCm39) |
nonsense |
probably null |
|
|
R8282:Niban2
|
UTSW |
2 |
32,809,029 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8685:Niban2
|
UTSW |
2 |
32,809,101 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8729:Niban2
|
UTSW |
2 |
32,799,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8878:Niban2
|
UTSW |
2 |
32,811,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8916:Niban2
|
UTSW |
2 |
32,811,106 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9676:Niban2
|
UTSW |
2 |
32,802,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9772:Niban2
|
UTSW |
2 |
32,795,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation