Incidental Mutation 'R9684:Niban1'
ID |
728720 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Niban1
|
Ensembl Gene |
ENSMUSG00000026483 |
Gene Name |
niban apoptosis regulator 1 |
Synonyms |
Fam129a, Niban |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9684 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
151447124-151596791 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 151593538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 741
(I741N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115822
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097541]
[ENSMUST00000148810]
|
AlphaFold |
Q3UW53 |
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 |
possibly damaging
Transcript: ENSMUST00000148810
AA Change: I741N
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000115822 Gene: ENSMUSG00000026483 AA Change: I741N
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,283,307 (GRCm39) |
D3243V |
probably damaging |
Het |
Acot3 |
T |
C |
12: 84,105,650 (GRCm39) |
L281P |
probably benign |
Het |
Asb4 |
A |
C |
6: 5,398,296 (GRCm39) |
H87P |
probably damaging |
Het |
Ccnt1 |
A |
T |
15: 98,446,566 (GRCm39) |
Y175N |
probably damaging |
Het |
Cdh11 |
A |
G |
8: 103,391,327 (GRCm39) |
V303A |
probably benign |
Het |
Cdk19 |
T |
A |
10: 40,351,594 (GRCm39) |
M297K |
probably damaging |
Het |
Ces2c |
A |
C |
8: 105,574,699 (GRCm39) |
D52A |
probably benign |
Het |
Cox10 |
C |
T |
11: 63,855,207 (GRCm39) |
R358H |
probably damaging |
Het |
Cryzl1 |
A |
G |
16: 91,487,634 (GRCm39) |
I302T |
probably benign |
Het |
Def6 |
T |
C |
17: 28,436,044 (GRCm39) |
Y68H |
probably damaging |
Het |
Dolpp1 |
A |
G |
2: 30,285,748 (GRCm39) |
I49V |
possibly damaging |
Het |
Ehmt1 |
T |
C |
2: 24,753,329 (GRCm39) |
D357G |
possibly damaging |
Het |
Ermp1 |
G |
T |
19: 29,594,106 (GRCm39) |
T688N |
probably benign |
Het |
F830016B08Rik |
T |
C |
18: 60,433,043 (GRCm39) |
I42T |
probably damaging |
Het |
Gbp7 |
A |
G |
3: 142,240,327 (GRCm39) |
E15G |
possibly damaging |
Het |
Ghdc |
A |
G |
11: 100,661,091 (GRCm39) |
S25P |
probably benign |
Het |
Gm45861 |
A |
G |
8: 28,014,601 (GRCm39) |
N613S |
unknown |
Het |
Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
Gzmf |
T |
A |
14: 56,444,444 (GRCm39) |
D43V |
probably benign |
Het |
Hdac10 |
C |
A |
15: 89,011,402 (GRCm39) |
D172Y |
probably damaging |
Het |
Krt32 |
T |
A |
11: 99,977,308 (GRCm39) |
R197S |
probably damaging |
Het |
Lama5 |
T |
C |
2: 179,849,038 (GRCm39) |
D215G |
probably damaging |
Het |
M1ap |
C |
A |
6: 82,945,094 (GRCm39) |
H129Q |
probably benign |
Het |
Mfsd3 |
A |
G |
15: 76,587,183 (GRCm39) |
D312G |
probably benign |
Het |
Muc5ac |
A |
G |
7: 141,364,798 (GRCm39) |
D2628G |
probably benign |
Het |
Myoz3 |
T |
C |
18: 60,712,026 (GRCm39) |
D184G |
possibly damaging |
Het |
Ncor2 |
A |
G |
5: 125,102,139 (GRCm39) |
L1217P |
|
Het |
Nepn |
T |
C |
10: 52,276,801 (GRCm39) |
V179A |
probably benign |
Het |
Npr2 |
T |
C |
4: 43,632,491 (GRCm39) |
Y103H |
probably damaging |
Het |
Oosp3 |
A |
T |
19: 11,682,806 (GRCm39) |
K158M |
probably benign |
Het |
Or51i1 |
C |
A |
7: 103,671,079 (GRCm39) |
G149C |
probably damaging |
Het |
Or56a3 |
A |
G |
7: 104,735,589 (GRCm39) |
Y222C |
|
Het |
Orc3 |
G |
A |
4: 34,607,135 (GRCm39) |
T65I |
probably benign |
Het |
Pcdhga7 |
T |
C |
18: 37,848,667 (GRCm39) |
S225P |
probably damaging |
Het |
Pcsk9 |
G |
T |
4: 106,307,386 (GRCm39) |
L286I |
probably benign |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Pnma1 |
T |
C |
12: 84,193,941 (GRCm39) |
Y254C |
probably benign |
Het |
Ppm1k |
T |
A |
6: 57,487,762 (GRCm39) |
N354Y |
probably damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,659,485 (GRCm39) |
T2012A |
possibly damaging |
Het |
Selp |
T |
A |
1: 163,953,858 (GRCm39) |
W53R |
probably damaging |
Het |
Slc10a7 |
T |
A |
8: 79,456,304 (GRCm39) |
V302E |
possibly damaging |
Het |
Slc25a32 |
T |
C |
15: 38,969,339 (GRCm39) |
I65V |
probably benign |
Het |
Spesp1 |
A |
G |
9: 62,180,545 (GRCm39) |
F121S |
probably damaging |
Het |
Syncrip |
T |
C |
9: 88,361,671 (GRCm39) |
T110A |
probably benign |
Het |
Tc2n |
T |
C |
12: 101,660,818 (GRCm39) |
D138G |
probably benign |
Het |
Tnfrsf9 |
C |
T |
4: 151,018,865 (GRCm39) |
P179S |
probably benign |
Het |
Ube2r2 |
A |
G |
4: 41,183,329 (GRCm39) |
T117A |
probably benign |
Het |
Ush2a |
A |
C |
1: 188,132,078 (GRCm39) |
K767Q |
possibly damaging |
Het |
Vdr |
A |
G |
15: 97,767,285 (GRCm39) |
V161A |
probably benign |
Het |
Vmn1r33 |
T |
C |
6: 66,589,075 (GRCm39) |
T160A |
possibly damaging |
Het |
Vmn1r63 |
A |
G |
7: 5,805,913 (GRCm39) |
S240P |
probably benign |
Het |
Vmp1 |
T |
C |
11: 86,476,156 (GRCm39) |
N400S |
probably benign |
Het |
Zfp599 |
G |
A |
9: 22,160,824 (GRCm39) |
T447I |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCACACTTGTCAGAGGTGG -3'
(R):5'- ACAGCTGGTGTTCTCAGTG -3'
Sequencing Primer
(F):5'- CACTTGTCAGAGGTGGAAGCTG -3'
(R):5'- CTGGTGTTCTCAGTGAGCCC -3'
|
Posted On |
2022-10-06 |