Incidental Mutation 'IGL03126:Niban2'
ID |
410175 |
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: 0.154)
|
Stock # |
IGL03126
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
32766146-32815265 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 32766398 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 13
(R13W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028135]
|
AlphaFold |
Q8R1F1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028135
AA Change: R13W
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000028135 Gene: ENSMUSG00000026796 AA Change: R13W
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: ENSMUST00000151820
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
A |
G |
13: 119,617,563 (GRCm39) |
N562S |
probably benign |
Het |
Abi1 |
A |
G |
2: 22,843,479 (GRCm39) |
V316A |
probably benign |
Het |
Acsm1 |
A |
T |
7: 119,232,403 (GRCm39) |
Q100L |
possibly damaging |
Het |
Akr1c21 |
T |
C |
13: 4,627,457 (GRCm39) |
Y184H |
possibly damaging |
Het |
Anks3 |
T |
C |
16: 4,775,891 (GRCm39) |
T104A |
probably damaging |
Het |
Bcl2l2 |
A |
G |
14: 55,122,224 (GRCm39) |
Y129C |
probably damaging |
Het |
Cenpf |
T |
A |
1: 189,391,207 (GRCm39) |
K875I |
probably damaging |
Het |
Cntnap1 |
T |
C |
11: 101,067,127 (GRCm39) |
V15A |
probably benign |
Het |
Dnaaf9 |
A |
T |
2: 130,633,915 (GRCm39) |
|
probably null |
Het |
Elmo3 |
C |
A |
8: 106,033,013 (GRCm39) |
R66S |
probably damaging |
Het |
Elp1 |
A |
G |
4: 56,779,717 (GRCm39) |
S565P |
probably benign |
Het |
Epn1 |
C |
A |
7: 5,098,684 (GRCm39) |
A370E |
probably benign |
Het |
Esrrg |
T |
C |
1: 187,730,184 (GRCm39) |
|
probably benign |
Het |
Fgd5 |
T |
G |
6: 92,042,145 (GRCm39) |
L1034R |
probably damaging |
Het |
Fpgs |
A |
G |
2: 32,573,135 (GRCm39) |
V567A |
possibly damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
H3c3 |
T |
C |
13: 23,929,425 (GRCm39) |
K19R |
possibly damaging |
Het |
Hsd17b14 |
T |
C |
7: 45,205,503 (GRCm39) |
F38S |
possibly damaging |
Het |
Larp1 |
T |
C |
11: 57,941,703 (GRCm39) |
V712A |
possibly damaging |
Het |
Mep1b |
T |
C |
18: 21,221,617 (GRCm39) |
F189S |
probably damaging |
Het |
Mill1 |
T |
C |
7: 17,989,832 (GRCm39) |
V38A |
probably benign |
Het |
Npy4r |
T |
C |
14: 33,868,290 (GRCm39) |
I333V |
probably benign |
Het |
Numa1 |
G |
T |
7: 101,649,874 (GRCm39) |
E1202* |
probably null |
Het |
Or3a1b |
C |
T |
11: 74,012,610 (GRCm39) |
A165V |
probably benign |
Het |
Or6k6 |
A |
G |
1: 173,945,276 (GRCm39) |
I102T |
probably benign |
Het |
Oxr1 |
A |
T |
15: 41,683,645 (GRCm39) |
Q356L |
possibly damaging |
Het |
Prdx2 |
T |
C |
8: 85,698,198 (GRCm39) |
F130L |
probably damaging |
Het |
Rasa1 |
A |
T |
13: 85,404,515 (GRCm39) |
S248R |
possibly damaging |
Het |
Rgs19 |
A |
G |
2: 181,333,114 (GRCm39) |
S49P |
probably benign |
Het |
Rinl |
A |
G |
7: 28,495,075 (GRCm39) |
|
probably benign |
Het |
Serpinb11 |
T |
C |
1: 107,307,654 (GRCm39) |
F362L |
probably damaging |
Het |
Slamf8 |
T |
C |
1: 172,411,736 (GRCm39) |
H253R |
possibly damaging |
Het |
Tet3 |
C |
A |
6: 83,353,769 (GRCm39) |
R829L |
probably damaging |
Het |
Trappc8 |
A |
G |
18: 20,996,652 (GRCm39) |
L420P |
probably damaging |
Het |
Ube2u |
A |
T |
4: 100,407,199 (GRCm39) |
*353Y |
probably null |
Het |
Wbp1l |
A |
C |
19: 46,632,838 (GRCm39) |
D46A |
probably damaging |
Het |
Zbtb21 |
A |
G |
16: 97,752,945 (GRCm39) |
V474A |
probably 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 |
IGL01072:Niban2
|
APN |
2 |
32,802,427 (GRCm39) |
unclassified |
probably benign |
|
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 |
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 |
2016-08-02 |