Incidental Mutation 'R8356:Niban1'
| ID |
660312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Niban1
|
| Ensembl Gene |
ENSMUSG00000026483 |
| Gene Name |
niban apoptosis regulator 1 |
| Synonyms |
Fam129a, Niban |
| MMRRC Submission |
067870-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8356 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
151447124-151596791 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 151571901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 282
(V282D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115822
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097541]
[ENSMUST00000148810]
|
| AlphaFold |
Q3UW53 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097541
AA Change: V282D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095148
Gene: ENSMUSG00000026483
AA Change: V282D
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
70 |
197 |
2e-83 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148810
AA Change: V282D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115822
Gene: ENSMUSG00000026483
AA Change: V282D
| 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: 99.1%
|
| Validation Efficiency |
100% (58/58) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
T |
A |
5: 113,861,868 (GRCm39) |
M1L |
unknown |
Het |
| Abcc9 |
A |
T |
6: 142,536,096 (GRCm39) |
M1546K |
probably benign |
Het |
| Acbd3 |
T |
C |
1: 180,553,881 (GRCm39) |
M72T |
probably benign |
Het |
| Adam6a |
T |
G |
12: 113,509,757 (GRCm39) |
L710R |
probably benign |
Het |
| Aldh4a1 |
T |
C |
4: 139,365,833 (GRCm39) |
S275P |
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,568,737 (GRCm39) |
L47Q |
probably damaging |
Het |
| Arhgap19 |
G |
A |
19: 41,762,615 (GRCm39) |
R414C |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,526,003 (GRCm39) |
S572P |
probably benign |
Het |
| Cdk10 |
G |
A |
8: 123,955,096 (GRCm39) |
R78H |
probably benign |
Het |
| Celsr2 |
C |
T |
3: 108,320,847 (GRCm39) |
R655H |
possibly damaging |
Het |
| Cntnap2 |
T |
A |
6: 47,026,307 (GRCm39) |
H44Q |
probably benign |
Het |
| Cpped1 |
A |
T |
16: 11,712,793 (GRCm39) |
C32* |
probably null |
Het |
| Ddi1 |
A |
G |
9: 6,266,249 (GRCm39) |
V40A |
probably benign |
Het |
| Ddx50 |
T |
C |
10: 62,457,287 (GRCm39) |
T588A |
probably benign |
Het |
| Degs2 |
A |
G |
12: 108,658,223 (GRCm39) |
I252T |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 30,994,972 (GRCm39) |
V2762I |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,444,313 (GRCm39) |
D4037G |
probably benign |
Het |
| Dnah5 |
C |
T |
15: 28,444,469 (GRCm39) |
A4089V |
probably null |
Het |
| Dthd1 |
A |
T |
5: 63,007,081 (GRCm39) |
D594V |
probably damaging |
Het |
| Ehmt1 |
A |
T |
2: 24,742,781 (GRCm39) |
M466K |
probably benign |
Het |
| Erich2 |
A |
T |
2: 70,357,873 (GRCm39) |
|
probably null |
Het |
| Fam221b |
T |
C |
4: 43,665,519 (GRCm39) |
D313G |
probably benign |
Het |
| Fbxl22 |
T |
C |
9: 66,421,732 (GRCm39) |
D35G |
possibly damaging |
Het |
| Ggcx |
A |
G |
6: 72,406,574 (GRCm39) |
E679G |
probably benign |
Het |
| Gm14295 |
A |
G |
2: 176,501,307 (GRCm39) |
T266A |
probably benign |
Het |
| Hnrnpa1 |
A |
G |
15: 103,150,529 (GRCm39) |
D160G |
probably null |
Het |
| Hnrnpul1 |
T |
C |
7: 25,422,247 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 111,259,756 (GRCm39) |
E2576G |
possibly damaging |
Het |
| Ifit2 |
T |
A |
19: 34,550,908 (GRCm39) |
C149* |
probably null |
Het |
| Il18rap |
T |
A |
1: 40,564,084 (GRCm39) |
S67R |
probably benign |
Het |
| Kcnk4 |
T |
G |
19: 6,903,668 (GRCm39) |
S294R |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,100,683 (GRCm39) |
H1588R |
probably damaging |
Het |
| Klhl35 |
A |
T |
7: 99,122,129 (GRCm39) |
S77C |
probably damaging |
Het |
| Lats2 |
A |
T |
14: 57,934,867 (GRCm39) |
M228K |
probably damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,662,256 (GRCm39) |
D587G |
probably benign |
Het |
| Lrrd1 |
C |
A |
5: 3,916,509 (GRCm39) |
T842K |
probably benign |
Het |
| Mafb |
G |
A |
2: 160,208,125 (GRCm39) |
H158Y |
probably benign |
Het |
| Mapk8ip3 |
T |
A |
17: 25,123,925 (GRCm39) |
E561D |
probably damaging |
Het |
| Mcemp1 |
A |
G |
8: 3,717,542 (GRCm39) |
T158A |
probably damaging |
Het |
| Mst1r |
A |
T |
9: 107,794,463 (GRCm39) |
E1214V |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,570,074 (GRCm39) |
I815T |
unknown |
Het |
| Ncoa6 |
T |
A |
2: 155,248,172 (GRCm39) |
I1711L |
possibly damaging |
Het |
| Neo1 |
G |
A |
9: 58,785,402 (GRCm39) |
T1408M |
probably damaging |
Het |
| Nnt |
A |
C |
13: 119,476,368 (GRCm39) |
F632C |
probably damaging |
Het |
| Nup210 |
G |
A |
6: 91,051,330 (GRCm39) |
T351I |
probably benign |
Het |
| Or4f59 |
A |
G |
2: 111,872,943 (GRCm39) |
S145P |
probably damaging |
Het |
| Or52e18 |
A |
G |
7: 104,609,934 (GRCm39) |
S2P |
probably benign |
Het |
| P4ha1 |
C |
T |
10: 59,191,185 (GRCm39) |
T364I |
probably damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,252 (GRCm39) |
L194Q |
probably damaging |
Het |
| Pramel52-ps |
A |
G |
5: 94,531,703 (GRCm39) |
K196E |
probably damaging |
Het |
| Rad51ap1 |
A |
G |
6: 126,901,879 (GRCm39) |
|
probably null |
Het |
| Rbm11 |
G |
A |
16: 75,397,694 (GRCm39) |
R208K |
probably benign |
Het |
| Rps6ka1 |
T |
A |
4: 133,587,368 (GRCm39) |
Q535L |
possibly damaging |
Het |
| Slc26a3 |
A |
G |
12: 31,516,505 (GRCm39) |
D621G |
probably benign |
Het |
| Sox10 |
T |
G |
15: 79,040,652 (GRCm39) |
E296A |
probably damaging |
Het |
| St3gal4 |
A |
C |
9: 34,964,438 (GRCm39) |
V188G |
probably damaging |
Het |
| Trim34a |
A |
T |
7: 103,910,178 (GRCm39) |
I327F |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Zc2hc1c |
A |
G |
12: 85,337,471 (GRCm39) |
E376G |
probably damaging |
Het |
| Zfp423 |
G |
A |
8: 88,509,910 (GRCm39) |
P77S |
probably damaging |
Het |
| Zfp560 |
A |
T |
9: 20,260,231 (GRCm39) |
S210R |
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 |
|
R8018:Niban1
|
UTSW |
1 |
151,593,006 (GRCm39) |
nonsense |
probably null |
|
|
R8164:Niban1
|
UTSW |
1 |
151,593,339 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- GAGTGTCAGCTTTGAACCTGCTC -3'
(R):5'- TGTATGAATCTCTCAGTGGACAGC -3'
Sequencing Primer
(F):5'- GAACCTGCTCAATCTCACTGG -3'
(R):5'- GAATCTCTCAGTGGACAGCTTATTTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation