Incidental Mutation 'IGL00543:Niban2'
| ID |
7232 |
| 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 # |
IGL00543
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
32766146-32815265 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32802483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 158
(F158Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028135]
[ENSMUST00000138781]
|
| AlphaFold |
Q8R1F1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028135
AA Change: F158Y
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000028135
Gene: ENSMUSG00000026796
AA Change: F158Y
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
A |
G |
2: 58,205,835 (GRCm39) |
C42R |
probably damaging |
Het |
| Adamts1 |
T |
C |
16: 85,592,461 (GRCm39) |
H649R |
probably benign |
Het |
| Capn3 |
T |
C |
2: 120,316,963 (GRCm39) |
|
probably benign |
Het |
| Cd44 |
T |
C |
2: 102,686,292 (GRCm39) |
T135A |
possibly damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,601,345 (GRCm39) |
I831N |
probably benign |
Het |
| Eprs1 |
G |
T |
1: 185,139,345 (GRCm39) |
C910F |
probably benign |
Het |
| Epx |
T |
C |
11: 87,760,751 (GRCm39) |
R394G |
probably damaging |
Het |
| Hps5 |
T |
C |
7: 46,427,497 (GRCm39) |
D338G |
probably benign |
Het |
| Ikbkg |
T |
C |
X: 73,476,466 (GRCm39) |
V14A |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,358,960 (GRCm39) |
F638L |
possibly damaging |
Het |
| Lyz3 |
G |
T |
10: 117,074,352 (GRCm39) |
T45K |
probably benign |
Het |
| Mak |
A |
T |
13: 41,209,189 (GRCm39) |
Y87N |
probably damaging |
Het |
| Morc2a |
T |
A |
11: 3,630,283 (GRCm39) |
I493N |
probably damaging |
Het |
| Msl2 |
T |
A |
9: 100,978,269 (GRCm39) |
H214Q |
probably benign |
Het |
| Myom3 |
A |
C |
4: 135,489,882 (GRCm39) |
T18P |
possibly damaging |
Het |
| Ndst3 |
G |
T |
3: 123,465,912 (GRCm39) |
T20N |
probably damaging |
Het |
| Nelfe |
T |
A |
17: 35,072,592 (GRCm39) |
S124T |
possibly damaging |
Het |
| Nlgn1 |
T |
G |
3: 25,487,945 (GRCm39) |
T797P |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,707,828 (GRCm39) |
D414G |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,664,940 (GRCm39) |
S386G |
possibly damaging |
Het |
| Ppig |
T |
A |
2: 69,580,060 (GRCm39) |
H531Q |
unknown |
Het |
| Ppm1n |
T |
C |
7: 19,012,109 (GRCm39) |
Y348C |
probably benign |
Het |
| Rdh9 |
T |
C |
10: 127,626,853 (GRCm39) |
V302A |
probably benign |
Het |
| Serpinb3b |
A |
G |
1: 107,085,396 (GRCm39) |
|
probably null |
Het |
| Slc39a10 |
A |
G |
1: 46,858,217 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Niban2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation