Incidental Mutation 'IGL01690:Niban1'
| ID |
104095 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Niban1
|
| Ensembl Gene |
ENSMUSG00000026483 |
| Gene Name |
niban apoptosis regulator 1 |
| Synonyms |
Fam129a, Niban |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01690
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
151447124-151596791 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 151579555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 425
(R425S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115822
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097541]
[ENSMUST00000148810]
|
| AlphaFold |
Q3UW53 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000086267
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097541
AA Change: R425S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095148
Gene: ENSMUSG00000026483
AA Change: R425S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
70 |
197 |
2e-83 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148810
AA Change: R425S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115822
Gene: ENSMUSG00000026483
AA Change: R425S
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1faoa_
|
67 |
118 |
1e-2 |
SMART |
|
Blast:PH
|
70 |
197 |
1e-80 |
BLAST |
|
low complexity region
|
540 |
549 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
784 |
797 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family with sequence similarity 129 protein family. This gene is highly expressed in several cancer cells and may serve as a prognostic marker for certain cancers. The encoded protein may play a role in regulating p53-mediated apoptosis. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable with no overt phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429P17Rik |
A |
G |
13: 48,114,446 (GRCm39) |
|
noncoding transcript |
Het |
| Agap2 |
T |
C |
10: 126,918,827 (GRCm39) |
|
probably benign |
Het |
| Bicra |
G |
A |
7: 15,721,678 (GRCm39) |
T613I |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,284,277 (GRCm39) |
S150P |
possibly damaging |
Het |
| Cfap107 |
G |
A |
4: 144,165,098 (GRCm39) |
T26M |
probably damaging |
Het |
| F830045P16Rik |
T |
G |
2: 129,314,614 (GRCm39) |
Q221P |
probably damaging |
Het |
| Fam135b |
T |
A |
15: 71,328,784 (GRCm39) |
M1172L |
probably benign |
Het |
| Fbxo2 |
G |
T |
4: 148,249,581 (GRCm39) |
|
probably null |
Het |
| Frem1 |
C |
T |
4: 82,877,533 (GRCm39) |
|
probably benign |
Het |
| Galnt17 |
C |
T |
5: 131,114,734 (GRCm39) |
|
probably null |
Het |
| Gipc2 |
A |
G |
3: 151,833,771 (GRCm39) |
I170T |
probably damaging |
Het |
| Gm2399 |
C |
T |
13: 12,717,417 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac10 |
T |
A |
15: 89,010,194 (GRCm39) |
M283L |
probably benign |
Het |
| Icam5 |
A |
G |
9: 20,946,095 (GRCm39) |
E309G |
possibly damaging |
Het |
| Ift70a1 |
A |
G |
2: 75,810,277 (GRCm39) |
V602A |
probably benign |
Het |
| Igkv3-5 |
T |
A |
6: 70,640,865 (GRCm39) |
S115R |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,025,568 (GRCm39) |
R67G |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,840,232 (GRCm39) |
Y356C |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,168,655 (GRCm39) |
D751G |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,917,831 (GRCm39) |
D3297G |
probably damaging |
Het |
| Mall |
A |
G |
2: 127,571,699 (GRCm39) |
F30L |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,571,512 (GRCm39) |
G403D |
probably damaging |
Het |
| Mmp11 |
T |
C |
10: 75,762,730 (GRCm39) |
Y241C |
probably damaging |
Het |
| Or4a72 |
A |
G |
2: 89,405,557 (GRCm39) |
V171A |
probably benign |
Het |
| Pcnt |
C |
T |
10: 76,228,609 (GRCm39) |
A1519T |
probably damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,529,490 (GRCm39) |
M96V |
probably benign |
Het |
| Piwil4 |
T |
C |
9: 14,614,391 (GRCm39) |
D124G |
probably damaging |
Het |
| Plb1 |
A |
T |
5: 32,471,041 (GRCm39) |
I538F |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,883,200 (GRCm39) |
D1788G |
probably damaging |
Het |
| Pus7 |
A |
G |
5: 23,980,962 (GRCm39) |
S134P |
probably damaging |
Het |
| Sec61a2 |
G |
A |
2: 5,891,363 (GRCm39) |
S56L |
possibly damaging |
Het |
| Sel1l |
G |
T |
12: 91,810,033 (GRCm39) |
D26E |
probably benign |
Het |
| Slc25a48 |
G |
A |
13: 56,612,758 (GRCm39) |
|
probably benign |
Het |
| Tas2r126 |
T |
C |
6: 42,412,241 (GRCm39) |
F258S |
probably benign |
Het |
| Tnfrsf13b |
G |
A |
11: 61,032,146 (GRCm39) |
V59I |
possibly damaging |
Het |
| Usp6nl |
G |
A |
2: 6,445,879 (GRCm39) |
V619M |
probably benign |
Het |
| Vmn1r67 |
A |
G |
7: 10,180,767 (GRCm39) |
I10M |
possibly damaging |
Het |
| Vmn2r71 |
A |
G |
7: 85,264,782 (GRCm39) |
D38G |
probably damaging |
Het |
|
| Other mutations in Niban1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01150:Niban1
|
APN |
1 |
151,593,472 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01762:Niban1
|
APN |
1 |
151,512,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01784:Niban1
|
APN |
1 |
151,525,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01938:Niban1
|
APN |
1 |
151,565,365 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02427:Niban1
|
APN |
1 |
151,593,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02617:Niban1
|
APN |
1 |
151,447,296 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02946:Niban1
|
APN |
1 |
151,525,176 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0242:Niban1
|
UTSW |
1 |
151,593,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0242:Niban1
|
UTSW |
1 |
151,593,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0279:Niban1
|
UTSW |
1 |
151,584,957 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0421:Niban1
|
UTSW |
1 |
151,584,833 (GRCm39) |
splice site |
probably benign |
|
|
R0531:Niban1
|
UTSW |
1 |
151,593,835 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0725:Niban1
|
UTSW |
1 |
151,581,766 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1493:Niban1
|
UTSW |
1 |
151,581,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1563:Niban1
|
UTSW |
1 |
151,591,424 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1868:Niban1
|
UTSW |
1 |
151,517,302 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1944:Niban1
|
UTSW |
1 |
151,571,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1945:Niban1
|
UTSW |
1 |
151,571,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2071:Niban1
|
UTSW |
1 |
151,512,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Niban1
|
UTSW |
1 |
151,584,884 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2126:Niban1
|
UTSW |
1 |
151,571,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2138:Niban1
|
UTSW |
1 |
151,572,002 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2180:Niban1
|
UTSW |
1 |
151,593,829 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2402:Niban1
|
UTSW |
1 |
151,565,365 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3689:Niban1
|
UTSW |
1 |
151,579,447 (GRCm39) |
splice site |
probably null |
|
|
R3783:Niban1
|
UTSW |
1 |
151,565,399 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3975:Niban1
|
UTSW |
1 |
151,525,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4029:Niban1
|
UTSW |
1 |
151,571,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4328:Niban1
|
UTSW |
1 |
151,512,169 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4447:Niban1
|
UTSW |
1 |
151,512,153 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4573:Niban1
|
UTSW |
1 |
151,579,517 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4774:Niban1
|
UTSW |
1 |
151,591,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5064:Niban1
|
UTSW |
1 |
151,565,410 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5077:Niban1
|
UTSW |
1 |
151,590,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5187:Niban1
|
UTSW |
1 |
151,579,580 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5484:Niban1
|
UTSW |
1 |
151,593,837 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5553:Niban1
|
UTSW |
1 |
151,592,986 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5572:Niban1
|
UTSW |
1 |
151,584,941 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5575:Niban1
|
UTSW |
1 |
151,593,991 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5586:Niban1
|
UTSW |
1 |
151,593,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5697:Niban1
|
UTSW |
1 |
151,576,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6305:Niban1
|
UTSW |
1 |
151,571,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7065:Niban1
|
UTSW |
1 |
151,575,858 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7126:Niban1
|
UTSW |
1 |
151,590,318 (GRCm39) |
nonsense |
probably null |
|
|
R7392:Niban1
|
UTSW |
1 |
151,571,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Niban1
|
UTSW |
1 |
151,594,048 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7577:Niban1
|
UTSW |
1 |
151,594,063 (GRCm39) |
missense |
probably benign |
|
|
R7939:Niban1
|
UTSW |
1 |
151,581,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8018:Niban1
|
UTSW |
1 |
151,593,006 (GRCm39) |
nonsense |
probably null |
|
|
R8164:Niban1
|
UTSW |
1 |
151,593,339 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8356:Niban1
|
UTSW |
1 |
151,571,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8478:Niban1
|
UTSW |
1 |
151,512,263 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8833:Niban1
|
UTSW |
1 |
151,520,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8847:Niban1
|
UTSW |
1 |
151,575,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8854:Niban1
|
UTSW |
1 |
151,584,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8960:Niban1
|
UTSW |
1 |
151,591,463 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9616:Niban1
|
UTSW |
1 |
151,512,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9684:Niban1
|
UTSW |
1 |
151,593,538 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2014-01-21 |
Incidental Mutation