Incidental Mutation 'R0421:Niban1'
ID |
37030 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Niban1
|
Ensembl Gene |
ENSMUSG00000026483 |
Gene Name |
niban apoptosis regulator 1 |
Synonyms |
Fam129a, Niban |
MMRRC Submission |
038623-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0421 (G1)
|
Quality Score |
207 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
151447124-151596791 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 151584833 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 benign
Transcript: ENSMUST00000097541
|
SMART Domains |
Protein: ENSMUSP00000095148 Gene: ENSMUSG00000026483
Domain | Start | End | E-Value | Type |
Blast:PH
|
70 |
197 |
2e-83 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148810
|
SMART Domains |
Protein: ENSMUSP00000115822 Gene: ENSMUSG00000026483
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.7%
|
Validation Efficiency |
97% (67/69) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi1 |
G |
A |
2: 22,850,839 (GRCm39) |
T195I |
probably damaging |
Het |
Afap1l1 |
T |
C |
18: 61,884,945 (GRCm39) |
N180S |
probably damaging |
Het |
Arsg |
A |
G |
11: 109,418,592 (GRCm39) |
Y196C |
probably damaging |
Het |
Ascc3 |
G |
T |
10: 50,625,022 (GRCm39) |
V1637L |
probably benign |
Het |
Atp2b2 |
C |
A |
6: 113,790,849 (GRCm39) |
R185L |
probably damaging |
Het |
Ccr9 |
A |
T |
9: 123,608,671 (GRCm39) |
M118L |
probably benign |
Het |
Cdh12 |
A |
T |
15: 21,480,310 (GRCm39) |
|
probably null |
Het |
Cdk13 |
T |
C |
13: 17,937,755 (GRCm39) |
S763G |
probably damaging |
Het |
Cenpk |
C |
A |
13: 104,378,911 (GRCm39) |
N177K |
probably benign |
Het |
Cfap43 |
T |
G |
19: 47,824,014 (GRCm39) |
N119T |
probably benign |
Het |
Chrna6 |
T |
C |
8: 27,898,415 (GRCm39) |
E101G |
probably null |
Het |
Clasp2 |
G |
A |
9: 113,683,370 (GRCm39) |
R400H |
probably benign |
Het |
Col6a6 |
T |
C |
9: 105,661,405 (GRCm39) |
M235V |
probably benign |
Het |
Ddx49 |
A |
T |
8: 70,748,282 (GRCm39) |
L291Q |
probably damaging |
Het |
Dhrs7 |
A |
T |
12: 72,699,860 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,229,687 (GRCm39) |
K107M |
possibly damaging |
Het |
Dsg2 |
C |
T |
18: 20,712,448 (GRCm39) |
R151C |
probably damaging |
Het |
Dsn1 |
T |
C |
2: 156,847,789 (GRCm39) |
T2A |
possibly damaging |
Het |
Edem3 |
A |
G |
1: 151,668,189 (GRCm39) |
|
probably benign |
Het |
Eif3c |
T |
C |
7: 126,162,884 (GRCm39) |
N133S |
possibly damaging |
Het |
F10 |
A |
G |
8: 13,095,097 (GRCm39) |
K85E |
probably benign |
Het |
Fbn2 |
T |
A |
18: 58,160,876 (GRCm39) |
|
probably benign |
Het |
Gtpbp10 |
A |
T |
5: 5,607,290 (GRCm39) |
H50Q |
probably benign |
Het |
Hephl1 |
A |
G |
9: 14,970,456 (GRCm39) |
F1013L |
probably benign |
Het |
Hps3 |
C |
A |
3: 20,083,480 (GRCm39) |
V238F |
probably benign |
Het |
Kcna10 |
A |
C |
3: 107,101,820 (GRCm39) |
K150N |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,990,914 (GRCm39) |
G636D |
probably damaging |
Het |
Kndc1 |
G |
A |
7: 139,488,912 (GRCm39) |
R189H |
probably damaging |
Het |
Knop1 |
C |
T |
7: 118,454,852 (GRCm39) |
E50K |
possibly damaging |
Het |
Kplce |
T |
C |
3: 92,776,291 (GRCm39) |
T131A |
probably damaging |
Het |
Kpna7 |
T |
A |
5: 144,926,551 (GRCm39) |
H467L |
possibly damaging |
Het |
Lcn4 |
T |
C |
2: 26,558,661 (GRCm39) |
N142D |
possibly damaging |
Het |
Map3k3 |
T |
C |
11: 106,039,741 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,684,707 (GRCm39) |
T806A |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,307,598 (GRCm39) |
N1703K |
probably benign |
Het |
Neurl4 |
T |
C |
11: 69,799,360 (GRCm39) |
V914A |
probably damaging |
Het |
Nop56 |
T |
C |
2: 130,118,692 (GRCm39) |
S275P |
possibly damaging |
Het |
Or1j20 |
A |
G |
2: 36,759,653 (GRCm39) |
E25G |
possibly damaging |
Het |
Or52ac1 |
A |
G |
7: 104,245,929 (GRCm39) |
V153A |
probably benign |
Het |
Or7e174 |
A |
G |
9: 20,012,771 (GRCm39) |
K239E |
probably damaging |
Het |
Otof |
A |
C |
5: 30,528,912 (GRCm39) |
I1827S |
possibly damaging |
Het |
Pappa2 |
A |
T |
1: 158,675,650 (GRCm39) |
I1032N |
probably damaging |
Het |
Pcdh7 |
A |
G |
5: 57,877,402 (GRCm39) |
E319G |
probably damaging |
Het |
Pcdhb11 |
T |
A |
18: 37,555,533 (GRCm39) |
S288T |
probably benign |
Het |
Phip |
A |
T |
9: 82,808,510 (GRCm39) |
D488E |
probably damaging |
Het |
Pla2g7 |
A |
T |
17: 43,922,303 (GRCm39) |
H394L |
probably damaging |
Het |
Plk3 |
A |
G |
4: 116,990,641 (GRCm39) |
V69A |
probably damaging |
Het |
Prob1 |
C |
A |
18: 35,786,083 (GRCm39) |
A724S |
possibly damaging |
Het |
Prune2 |
T |
C |
19: 17,100,675 (GRCm39) |
F2060L |
probably benign |
Het |
Rgl3 |
G |
A |
9: 21,887,328 (GRCm39) |
R498C |
probably benign |
Het |
Rnf213 |
A |
C |
11: 119,338,083 (GRCm39) |
N3362H |
probably damaging |
Het |
Sbds |
A |
G |
5: 130,282,774 (GRCm39) |
|
probably benign |
Het |
Scn9a |
T |
C |
2: 66,373,621 (GRCm39) |
S453G |
probably benign |
Het |
Sh3rf3 |
T |
C |
10: 58,819,897 (GRCm39) |
L236P |
probably damaging |
Het |
Skint1 |
A |
G |
4: 111,876,211 (GRCm39) |
N44S |
possibly damaging |
Het |
Slc5a1 |
T |
A |
5: 33,291,996 (GRCm39) |
I141N |
probably damaging |
Het |
Tlcd3b |
G |
A |
7: 126,424,187 (GRCm39) |
V44M |
probably damaging |
Het |
Trank1 |
T |
A |
9: 111,220,907 (GRCm39) |
I2548N |
probably damaging |
Het |
Tsc22d2 |
G |
A |
3: 58,324,749 (GRCm39) |
|
probably benign |
Het |
Unc13c |
T |
A |
9: 73,840,492 (GRCm39) |
I120F |
possibly damaging |
Het |
Vmn2r11 |
T |
G |
5: 109,207,294 (GRCm39) |
I9L |
probably benign |
Het |
Vmn2r58 |
T |
G |
7: 41,514,628 (GRCm39) |
N114H |
probably benign |
Het |
Vps53 |
A |
G |
11: 75,973,496 (GRCm39) |
L166P |
probably damaging |
Het |
Zfp119a |
T |
A |
17: 56,172,248 (GRCm39) |
K532* |
probably null |
Het |
Zfp472 |
A |
G |
17: 33,194,897 (GRCm39) |
T11A |
possibly damaging |
Het |
Zfp512b |
T |
A |
2: 181,230,051 (GRCm39) |
K87* |
probably null |
Het |
Zfp518b |
G |
A |
5: 38,831,918 (GRCm39) |
P29L |
probably damaging |
Het |
Zfp599 |
A |
G |
9: 22,161,843 (GRCm39) |
|
probably benign |
Het |
Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTGTTTGTAAAAGAGGTGCATGG -3'
(R):5'- TCAGGGTACACGCTCTCTCAGTAAG -3'
Sequencing Primer
(F):5'- aaagaggtgcatggactagg -3'
(R):5'- ctctctctctctctctctctctc -3'
|
Posted On |
2013-05-09 |