Incidental Mutation 'IGL00985:Niban3'
ID |
28098 |
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 # |
IGL00985
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
72050292-72060580 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 72057507 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 |
probably benign
Transcript: ENSMUST00000143662
|
SMART Domains |
Protein: ENSMUSP00000123432 Gene: ENSMUSG00000043243
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630091E08Rik |
G |
T |
7: 98,193,125 (GRCm39) |
|
noncoding transcript |
Het |
Abca15 |
G |
A |
7: 119,996,241 (GRCm39) |
G1389E |
probably damaging |
Het |
Adcy3 |
T |
C |
12: 4,184,600 (GRCm39) |
V92A |
probably damaging |
Het |
Aoc1l1 |
A |
G |
6: 48,954,481 (GRCm39) |
S540G |
probably benign |
Het |
Aplnr |
A |
T |
2: 84,968,007 (GRCm39) |
Y344F |
probably benign |
Het |
Atm |
A |
T |
9: 53,371,116 (GRCm39) |
V2241E |
probably damaging |
Het |
Cep290 |
T |
C |
10: 100,403,023 (GRCm39) |
|
probably benign |
Het |
Cnpy1 |
A |
T |
5: 28,414,152 (GRCm39) |
Y91* |
probably null |
Het |
Cobl |
C |
A |
11: 12,204,843 (GRCm39) |
G613W |
probably damaging |
Het |
Csn1s2a |
T |
C |
5: 87,932,439 (GRCm39) |
S121P |
possibly damaging |
Het |
Flg2 |
A |
T |
3: 93,110,585 (GRCm39) |
Y871F |
unknown |
Het |
Gapvd1 |
T |
A |
2: 34,585,575 (GRCm39) |
D1008V |
probably damaging |
Het |
Gask1a |
T |
C |
9: 121,807,401 (GRCm39) |
L515P |
probably damaging |
Het |
Igfl3 |
T |
C |
7: 17,914,000 (GRCm39) |
|
probably null |
Het |
Kmt2b |
A |
T |
7: 30,279,352 (GRCm39) |
V1470E |
probably damaging |
Het |
Mcc |
A |
T |
18: 44,624,306 (GRCm39) |
L413Q |
probably damaging |
Het |
Mia2 |
G |
A |
12: 59,235,146 (GRCm39) |
G610D |
probably damaging |
Het |
Mlst8 |
A |
T |
17: 24,696,287 (GRCm39) |
D147E |
probably damaging |
Het |
Muc19 |
G |
T |
15: 91,770,943 (GRCm39) |
|
noncoding transcript |
Het |
Mybpc3 |
A |
G |
2: 90,965,704 (GRCm39) |
E1172G |
probably benign |
Het |
Nop14 |
A |
T |
5: 34,802,133 (GRCm39) |
L557Q |
probably damaging |
Het |
P3h3 |
T |
C |
6: 124,822,552 (GRCm39) |
T540A |
probably benign |
Het |
Phc3 |
T |
A |
3: 30,968,346 (GRCm39) |
I897F |
probably benign |
Het |
Plekhh2 |
G |
A |
17: 84,871,356 (GRCm39) |
V205I |
probably benign |
Het |
Poc5 |
A |
G |
13: 96,547,254 (GRCm39) |
K506E |
probably damaging |
Het |
Pum1 |
C |
A |
4: 130,471,100 (GRCm39) |
T450K |
probably damaging |
Het |
Retnlg |
G |
A |
16: 48,694,688 (GRCm39) |
R112H |
possibly damaging |
Het |
Rgl2 |
T |
C |
17: 34,151,075 (GRCm39) |
V101A |
probably damaging |
Het |
Serinc5 |
A |
G |
13: 92,842,779 (GRCm39) |
T410A |
probably damaging |
Het |
Shroom1 |
T |
C |
11: 53,356,796 (GRCm39) |
V553A |
probably benign |
Het |
Slco4c1 |
A |
T |
1: 96,768,912 (GRCm39) |
W317R |
probably damaging |
Het |
Snap91 |
T |
C |
9: 86,703,790 (GRCm39) |
T268A |
probably benign |
Het |
Supt16 |
T |
C |
14: 52,399,148 (GRCm39) |
K1044E |
possibly damaging |
Het |
Tarbp1 |
A |
T |
8: 127,185,900 (GRCm39) |
L431I |
probably damaging |
Het |
Tas2r124 |
C |
T |
6: 132,732,492 (GRCm39) |
T267I |
probably benign |
Het |
Tm7sf3 |
C |
T |
6: 146,507,692 (GRCm39) |
V457I |
possibly damaging |
Het |
Tmem132c |
A |
T |
5: 127,581,930 (GRCm39) |
S382C |
probably damaging |
Het |
Tmprss7 |
C |
A |
16: 45,482,685 (GRCm39) |
C582F |
probably damaging |
Het |
Tsc2 |
T |
C |
17: 24,816,105 (GRCm39) |
E1694G |
probably damaging |
Het |
Txndc2 |
G |
T |
17: 65,945,544 (GRCm39) |
S211Y |
possibly damaging |
Het |
Ubr3 |
A |
C |
2: 69,833,775 (GRCm39) |
T205P |
probably damaging |
Het |
Vmn2r116 |
G |
A |
17: 23,620,489 (GRCm39) |
G741D |
probably damaging |
Het |
Vps8 |
G |
A |
16: 21,296,334 (GRCm39) |
|
probably benign |
Het |
Wdr19 |
G |
A |
5: 65,409,642 (GRCm39) |
D1127N |
probably benign |
Het |
Zim1 |
T |
A |
7: 6,685,759 (GRCm39) |
Y83F |
possibly damaging |
Het |
|
Other mutations in Niban3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01530:Niban3
|
APN |
8 |
72,056,561 (GRCm39) |
splice site |
probably benign |
|
IGL01553:Niban3
|
APN |
8 |
72,055,546 (GRCm39) |
missense |
possibly damaging |
0.86 |
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 |
2013-04-17 |