Incidental Mutation 'IGL02745:Niban3'
| ID |
306138 |
| 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 # |
IGL02745
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
72050292-72060580 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 72057682 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 null
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 null
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 |
|---|
| A4galt |
T |
C |
15: 83,112,282 (GRCm39) |
E167G |
probably benign |
Het |
| Aldh1a1 |
A |
G |
19: 20,614,028 (GRCm39) |
|
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,805,950 (GRCm39) |
H152R |
probably damaging |
Het |
| Bpifb4 |
T |
A |
2: 153,789,141 (GRCm39) |
L316Q |
probably damaging |
Het |
| C2cd5 |
A |
T |
6: 142,987,256 (GRCm39) |
L155I |
probably benign |
Het |
| Chrdl2 |
T |
A |
7: 99,670,170 (GRCm39) |
C98S |
probably damaging |
Het |
| Clnk |
A |
G |
5: 38,893,662 (GRCm39) |
S232P |
probably benign |
Het |
| Csf3 |
A |
G |
11: 98,593,303 (GRCm39) |
D140G |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,234,189 (GRCm39) |
|
probably benign |
Het |
| Fetub |
T |
C |
16: 22,756,676 (GRCm39) |
V259A |
probably damaging |
Het |
| Gga2 |
G |
T |
7: 121,607,592 (GRCm39) |
R108S |
probably damaging |
Het |
| Hip1r |
C |
A |
5: 124,129,002 (GRCm39) |
|
probably null |
Het |
| Hsd17b3 |
A |
G |
13: 64,234,990 (GRCm39) |
F62L |
probably benign |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Man1a |
C |
T |
10: 53,853,206 (GRCm39) |
R304Q |
probably damaging |
Het |
| Med17 |
A |
G |
9: 15,176,642 (GRCm39) |
|
probably benign |
Het |
| Mrgprb4 |
T |
C |
7: 47,848,106 (GRCm39) |
Y274C |
probably damaging |
Het |
| Myh8 |
C |
T |
11: 67,188,327 (GRCm39) |
T996I |
possibly damaging |
Het |
| Nlrp4e |
T |
A |
7: 23,020,716 (GRCm39) |
L401Q |
probably damaging |
Het |
| Oas1h |
G |
A |
5: 120,999,542 (GRCm39) |
R9Q |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,844,232 (GRCm39) |
Y59H |
probably damaging |
Het |
| Or4d10b |
C |
T |
19: 12,036,565 (GRCm39) |
V184I |
probably benign |
Het |
| Or8g51 |
T |
C |
9: 38,609,494 (GRCm39) |
H56R |
probably damaging |
Het |
| Otor |
A |
G |
2: 142,923,076 (GRCm39) |
D122G |
possibly damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,710,340 (GRCm39) |
Q325L |
probably damaging |
Het |
| Ppfibp1 |
T |
C |
6: 146,923,852 (GRCm39) |
|
probably benign |
Het |
| Pramel16 |
A |
T |
4: 143,677,294 (GRCm39) |
L95Q |
probably damaging |
Het |
| Prlr |
T |
A |
15: 10,328,680 (GRCm39) |
I385N |
possibly damaging |
Het |
| Rap1gds1 |
A |
G |
3: 138,662,002 (GRCm39) |
V418A |
probably damaging |
Het |
| Rdh1 |
A |
T |
10: 127,601,288 (GRCm39) |
T279S |
probably benign |
Het |
| Slc17a3 |
C |
A |
13: 24,026,469 (GRCm39) |
Q13K |
probably benign |
Het |
| Slc22a20 |
T |
C |
19: 6,022,901 (GRCm39) |
N414S |
probably damaging |
Het |
| Slc4a1 |
C |
A |
11: 102,247,093 (GRCm39) |
C498F |
probably damaging |
Het |
| Sp8 |
G |
A |
12: 118,813,326 (GRCm39) |
G394S |
probably damaging |
Het |
| Ssh2 |
C |
T |
11: 77,346,233 (GRCm39) |
T1406I |
probably damaging |
Het |
| Stra6 |
T |
A |
9: 58,059,321 (GRCm39) |
D561E |
probably damaging |
Het |
| Stxbp5l |
G |
A |
16: 37,007,016 (GRCm39) |
Q726* |
probably null |
Het |
| Synpo2 |
G |
A |
3: 122,907,261 (GRCm39) |
T685I |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,635,140 (GRCm39) |
S556T |
probably benign |
Het |
| Ttc27 |
A |
G |
17: 75,046,728 (GRCm39) |
D263G |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,594,332 (GRCm39) |
P18793S |
possibly damaging |
Het |
| Vmn2r109 |
A |
G |
17: 20,761,512 (GRCm39) |
V615A |
probably damaging |
Het |
| Vmn2r76 |
T |
G |
7: 85,879,495 (GRCm39) |
K268N |
probably benign |
Het |
| Zeb2 |
A |
G |
2: 44,884,487 (GRCm39) |
|
probably benign |
Het |
| Zfp286 |
C |
A |
11: 62,671,700 (GRCm39) |
K124N |
probably damaging |
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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation