Incidental Mutation 'R8018:Niban1'
ID |
617197 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Niban1
|
Ensembl Gene |
ENSMUSG00000026483 |
Gene Name |
niban apoptosis regulator 1 |
Synonyms |
Fam129a, Niban |
MMRRC Submission |
067458-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8018 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
151447124-151596791 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 151593006 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 564
(K564*)
|
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 |
probably null
Transcript: ENSMUST00000148810
AA Change: K564*
|
SMART Domains |
Protein: ENSMUSP00000115822 Gene: ENSMUSG00000026483 AA Change: K564*
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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
98% (45/46) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
G |
A |
9: 55,880,991 (GRCm39) |
T146I |
unknown |
Het |
Abca16 |
A |
G |
7: 120,132,866 (GRCm39) |
E1265G |
probably benign |
Het |
Adar |
T |
C |
3: 89,654,882 (GRCm39) |
S924P |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
AI429214 |
A |
T |
8: 37,460,820 (GRCm39) |
|
probably benign |
Het |
Ankmy1 |
A |
T |
1: 92,814,003 (GRCm39) |
L392Q |
probably benign |
Het |
Anxa3 |
A |
T |
5: 96,968,288 (GRCm39) |
I114F |
probably damaging |
Het |
Ccdc158 |
T |
C |
5: 92,771,260 (GRCm39) |
D985G |
possibly damaging |
Het |
Cndp2 |
C |
T |
18: 84,686,727 (GRCm39) |
V432I |
probably benign |
Het |
Ctbp2 |
T |
C |
7: 132,616,095 (GRCm39) |
K280R |
probably benign |
Het |
Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
Dnaaf4 |
T |
A |
9: 72,879,598 (GRCm39) |
|
probably benign |
Het |
Dynap |
T |
C |
18: 70,375,093 (GRCm39) |
T41A |
possibly damaging |
Het |
Elfn2 |
A |
G |
15: 78,557,968 (GRCm39) |
L193P |
probably damaging |
Het |
Fcrl2 |
A |
T |
3: 87,166,933 (GRCm39) |
L20* |
probably null |
Het |
Flcn |
T |
C |
11: 59,684,948 (GRCm39) |
D501G |
probably damaging |
Het |
Gmip |
A |
G |
8: 70,268,143 (GRCm39) |
E399G |
probably benign |
Het |
Grm7 |
A |
G |
6: 111,184,737 (GRCm39) |
E356G |
probably benign |
Het |
Hs3st2 |
A |
G |
7: 121,099,639 (GRCm39) |
|
probably null |
Het |
Kcnh2 |
G |
A |
5: 24,525,014 (GRCm39) |
S1158L |
probably damaging |
Het |
Lancl2 |
A |
G |
6: 57,690,078 (GRCm39) |
T104A |
probably damaging |
Het |
Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
Mthfd2l |
T |
A |
5: 91,107,672 (GRCm39) |
I178N |
probably damaging |
Het |
Nbeal2 |
G |
T |
9: 110,458,225 (GRCm39) |
|
probably benign |
Het |
Nipal3 |
C |
T |
4: 135,174,659 (GRCm39) |
R364H |
possibly damaging |
Het |
Or2b4 |
A |
G |
17: 38,116,038 (GRCm39) |
M1V |
probably null |
Het |
Oxa1l |
A |
G |
14: 54,600,757 (GRCm39) |
I77V |
not run |
Het |
Phf10 |
T |
A |
17: 15,174,378 (GRCm39) |
Q233H |
possibly damaging |
Het |
Pias2 |
T |
A |
18: 77,216,654 (GRCm39) |
N288K |
probably benign |
Het |
Pramel43 |
T |
C |
5: 94,761,839 (GRCm39) |
N244S |
probably benign |
Het |
Prm3 |
CTCTTCTTCTTCTTC |
CTCTTCTTCTTC |
16: 10,608,565 (GRCm39) |
|
probably benign |
Het |
Ptprd |
T |
C |
4: 76,003,757 (GRCm39) |
T1010A |
probably damaging |
Het |
Ralgapa2 |
T |
C |
2: 146,182,311 (GRCm39) |
D1676G |
probably damaging |
Het |
Rapgefl1 |
T |
G |
11: 98,731,166 (GRCm39) |
|
probably null |
Het |
Rrp7a |
C |
T |
15: 83,001,125 (GRCm39) |
E269K |
possibly damaging |
Het |
Ryr3 |
A |
C |
2: 112,508,777 (GRCm39) |
M3399R |
probably damaging |
Het |
Secisbp2l |
C |
A |
2: 125,587,829 (GRCm39) |
R762L |
probably damaging |
Het |
Smad7 |
T |
G |
18: 75,502,355 (GRCm39) |
L110R |
possibly damaging |
Het |
St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
Tcea3 |
T |
G |
4: 135,985,229 (GRCm39) |
|
probably benign |
Het |
Tdrd9 |
T |
C |
12: 111,999,180 (GRCm39) |
V765A |
probably benign |
Het |
Tdrd9 |
C |
T |
12: 112,010,822 (GRCm39) |
R1130W |
probably damaging |
Het |
Tia1 |
C |
T |
6: 86,402,034 (GRCm39) |
P189S |
probably benign |
Het |
Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
Ubxn8 |
A |
G |
8: 34,113,243 (GRCm39) |
C204R |
probably damaging |
Het |
Vmn1r76 |
A |
G |
7: 11,664,810 (GRCm39) |
S135P |
probably damaging |
Het |
Vps18 |
T |
A |
2: 119,124,492 (GRCm39) |
L473H |
probably damaging |
Het |
Zfp444 |
A |
G |
7: 6,191,142 (GRCm39) |
T108A |
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 |
|
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 |
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'- TGGTGACACTCATGTATATGATACCC -3'
(R):5'- TCTGGCTCCTGGAACACTTC -3'
Sequencing Primer
(F):5'- ACGCTACCAAGATTCGGAGTCTG -3'
(R):5'- CCTGGAACACTTCATTACTTGGGAG -3'
|
Posted On |
2020-01-23 |