Incidental Mutation 'R2402:Niban1'
| ID |
248721 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Niban1
|
| Ensembl Gene |
ENSMUSG00000026483 |
| Gene Name |
niban apoptosis regulator 1 |
| Synonyms |
Fam129a, Niban |
| MMRRC Submission |
040368-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2402 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
151447124-151596791 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 151565365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 232
(T232A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097541]
[ENSMUST00000111875]
[ENSMUST00000148810]
|
| AlphaFold |
Q3UW53 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000086267
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097541
AA Change: T232A
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000095148
Gene: ENSMUSG00000026483
AA Change: T232A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
70 |
197 |
2e-83 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111875
AA Change: T232A
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107506
Gene: ENSMUSG00000026483
AA Change: T232A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
70 |
197 |
6e-86 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148810
AA Change: T232A
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000115822
Gene: ENSMUSG00000026483
AA Change: T232A
| 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 |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 92.5%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
A |
8: 87,235,770 (GRCm39) |
D1199V |
probably damaging |
Het |
| Abcc6 |
A |
T |
7: 45,664,999 (GRCm39) |
S277R |
probably benign |
Het |
| Acvrl1 |
A |
G |
15: 101,035,280 (GRCm39) |
S269G |
probably damaging |
Het |
| Akap10 |
T |
C |
11: 61,806,048 (GRCm39) |
S227G |
probably benign |
Het |
| Angptl8 |
T |
C |
9: 21,747,112 (GRCm39) |
|
probably null |
Het |
| Arsi |
T |
C |
18: 61,049,539 (GRCm39) |
S141P |
possibly damaging |
Het |
| Atic |
T |
A |
1: 71,608,216 (GRCm39) |
Y303* |
probably null |
Het |
| Bbs9 |
C |
T |
9: 22,557,359 (GRCm39) |
P510L |
probably benign |
Het |
| Bcl2a1b |
A |
G |
9: 89,081,795 (GRCm39) |
N128S |
probably benign |
Het |
| Bcl2a1d |
A |
T |
9: 88,613,549 (GRCm39) |
M75K |
probably damaging |
Het |
| Carm1 |
T |
A |
9: 21,494,836 (GRCm39) |
L324Q |
probably damaging |
Het |
| Caskin1 |
T |
A |
17: 24,722,782 (GRCm39) |
L550Q |
probably damaging |
Het |
| Cd302 |
A |
G |
2: 60,087,412 (GRCm39) |
I142T |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,738,882 (GRCm39) |
D2320E |
probably benign |
Het |
| Cgnl1 |
A |
G |
9: 71,632,461 (GRCm39) |
S297P |
probably damaging |
Het |
| Cr1l |
T |
A |
1: 194,789,210 (GRCm39) |
Y398F |
probably benign |
Het |
| Ctsa |
A |
T |
2: 164,676,813 (GRCm39) |
D145V |
probably benign |
Het |
| Ctsj |
C |
T |
13: 61,148,388 (GRCm39) |
G303D |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,016,800 (GRCm39) |
I250M |
probably benign |
Het |
| Doc2a |
C |
A |
7: 126,447,919 (GRCm39) |
C54* |
probably null |
Het |
| Dpy19l2 |
T |
C |
9: 24,492,544 (GRCm39) |
T685A |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,728,535 (GRCm39) |
C243* |
probably null |
Het |
| Exoc3l4 |
A |
G |
12: 111,388,690 (GRCm39) |
T60A |
possibly damaging |
Het |
| Exph5 |
C |
A |
9: 53,286,225 (GRCm39) |
S1102* |
probably null |
Het |
| Fhl3 |
T |
C |
4: 124,599,481 (GRCm39) |
Y19H |
probably damaging |
Het |
| Flt4 |
A |
G |
11: 49,528,646 (GRCm39) |
E1012G |
possibly damaging |
Het |
| Flvcr2 |
A |
G |
12: 85,829,777 (GRCm39) |
N262S |
probably benign |
Het |
| Gon4l |
G |
T |
3: 88,766,350 (GRCm39) |
C463F |
probably damaging |
Het |
| H2-T10 |
A |
T |
17: 36,428,631 (GRCm39) |
|
probably null |
Het |
| Heatr3 |
T |
C |
8: 88,871,200 (GRCm39) |
C185R |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,792,317 (GRCm39) |
V2474A |
probably benign |
Het |
| Htr3a |
C |
T |
9: 48,812,795 (GRCm39) |
E215K |
probably damaging |
Het |
| Ica1l |
T |
C |
1: 60,045,451 (GRCm39) |
T271A |
probably benign |
Het |
| Klra2 |
A |
G |
6: 131,220,864 (GRCm39) |
I66T |
probably benign |
Het |
| Neto2 |
T |
C |
8: 86,417,541 (GRCm39) |
K21R |
probably benign |
Het |
| Nisch |
T |
A |
14: 30,906,971 (GRCm39) |
|
probably benign |
Het |
| Nr4a1 |
G |
T |
15: 101,169,618 (GRCm39) |
R296L |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or7g19 |
T |
A |
9: 18,856,496 (GRCm39) |
I184N |
probably damaging |
Het |
| Or8b50 |
T |
C |
9: 38,518,397 (GRCm39) |
V212A |
probably benign |
Het |
| Pcsk5 |
A |
T |
19: 17,452,198 (GRCm39) |
C1102* |
probably null |
Het |
| Phip |
C |
T |
9: 82,757,358 (GRCm39) |
A1605T |
probably benign |
Het |
| Pstpip2 |
T |
A |
18: 77,942,564 (GRCm39) |
M105K |
possibly damaging |
Het |
| Qprt |
C |
T |
7: 126,707,532 (GRCm39) |
V219I |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,195,112 (GRCm39) |
N1271K |
probably damaging |
Het |
| Reg3g |
A |
T |
6: 78,444,475 (GRCm39) |
L106H |
probably damaging |
Het |
| Rhobtb1 |
G |
A |
10: 69,106,254 (GRCm39) |
G273D |
probably benign |
Het |
| Rimbp2 |
T |
C |
5: 128,861,952 (GRCm39) |
D771G |
probably damaging |
Het |
| Sos2 |
T |
C |
12: 69,643,573 (GRCm39) |
I935V |
possibly damaging |
Het |
| Tcf12 |
A |
T |
9: 71,763,792 (GRCm39) |
N397K |
probably damaging |
Het |
| Tgtp2 |
T |
C |
11: 48,949,957 (GRCm39) |
Q205R |
probably benign |
Het |
| Tle5 |
T |
A |
10: 81,400,712 (GRCm39) |
C89S |
possibly damaging |
Het |
| Tubb2b |
T |
C |
13: 34,312,209 (GRCm39) |
N195D |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,095,843 (GRCm39) |
T84A |
probably benign |
Het |
| Usb1 |
T |
A |
8: 96,069,759 (GRCm39) |
F102L |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,949,529 (GRCm39) |
T650A |
possibly damaging |
Het |
| Zbtb41 |
A |
C |
1: 139,350,923 (GRCm39) |
D12A |
probably benign |
Het |
| Zbtb41 |
G |
T |
1: 139,350,925 (GRCm39) |
E13* |
probably null |
Het |
| Zfp821 |
C |
T |
8: 110,447,872 (GRCm39) |
S71F |
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 |
|
IGL01690:Niban1
|
APN |
1 |
151,579,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCGTCATACTTGAAGAACC -3'
(R):5'- TTTGCGACCTAACTAAGCACTG -3'
Sequencing Primer
(F):5'- GTCATACTTGAAGAACCACAGAAG -3'
(R):5'- CTAACTAAGCACTGTGGGCTGTC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation