Incidental Mutation 'R5077:Niban1'
| ID |
401915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Niban1
|
| Ensembl Gene |
ENSMUSG00000026483 |
| Gene Name |
niban apoptosis regulator 1 |
| Synonyms |
Fam129a, Niban |
| MMRRC Submission |
042666-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5077 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
151447124-151596791 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 151590274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 523
(I523V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095148
(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
AA Change: I523V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000095148
Gene: ENSMUSG00000026483
AA Change: I523V
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
93% (51/55) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
G |
8: 44,080,200 (GRCm39) |
V8A |
possibly damaging |
Het |
| Agbl4 |
A |
T |
4: 111,423,939 (GRCm39) |
M322L |
probably benign |
Het |
| Ankrd55 |
A |
G |
13: 112,492,522 (GRCm39) |
K231R |
probably benign |
Het |
| Asap1 |
A |
C |
15: 63,999,272 (GRCm39) |
M534R |
probably damaging |
Het |
| B4galnt2 |
T |
A |
11: 95,767,140 (GRCm39) |
|
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,437,475 (GRCm39) |
|
probably null |
Het |
| Cacna1h |
T |
C |
17: 25,594,224 (GRCm39) |
I2311M |
probably benign |
Het |
| Capn2 |
G |
T |
1: 182,300,138 (GRCm39) |
D617E |
possibly damaging |
Het |
| Catsper1 |
A |
G |
19: 5,385,998 (GRCm39) |
D77G |
probably damaging |
Het |
| Cdc42bpa |
A |
T |
1: 179,922,098 (GRCm39) |
|
probably benign |
Het |
| Cdca8 |
T |
C |
4: 124,820,470 (GRCm39) |
K109E |
probably damaging |
Het |
| Dbx1 |
A |
G |
7: 49,283,242 (GRCm39) |
S223P |
probably damaging |
Het |
| Dlg4 |
A |
G |
11: 69,917,852 (GRCm39) |
N45S |
possibly damaging |
Het |
| Dlgap2 |
T |
G |
8: 14,872,691 (GRCm39) |
V723G |
probably benign |
Het |
| Efl1 |
C |
A |
7: 82,307,295 (GRCm39) |
Q64K |
probably damaging |
Het |
| Eml1 |
T |
A |
12: 108,472,871 (GRCm39) |
|
probably benign |
Het |
| Fbxw16 |
A |
G |
9: 109,270,117 (GRCm39) |
|
probably null |
Het |
| Gm10800 |
A |
T |
2: 98,497,379 (GRCm39) |
L80M |
probably benign |
Het |
| H4c16 |
A |
G |
6: 136,781,113 (GRCm39) |
Y89H |
probably benign |
Het |
| Insig2 |
A |
T |
1: 121,239,964 (GRCm39) |
V112E |
probably damaging |
Het |
| Kcnip3 |
A |
G |
2: 127,307,797 (GRCm39) |
S123P |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,780,851 (GRCm39) |
|
probably null |
Het |
| Myo16 |
T |
C |
8: 10,372,658 (GRCm39) |
V119A |
probably damaging |
Het |
| Naa25 |
G |
A |
5: 121,562,639 (GRCm39) |
V474M |
probably benign |
Het |
| Nckap1 |
A |
T |
2: 80,379,277 (GRCm39) |
V219E |
probably damaging |
Het |
| Nrp1 |
G |
T |
8: 129,227,154 (GRCm39) |
|
probably null |
Het |
| Nsun4 |
A |
T |
4: 115,905,781 (GRCm39) |
D58E |
probably benign |
Het |
| Obscn |
G |
T |
11: 58,934,883 (GRCm39) |
A5249D |
probably damaging |
Het |
| Or8k53 |
A |
T |
2: 86,177,683 (GRCm39) |
H142Q |
probably benign |
Het |
| Osmr |
A |
T |
15: 6,873,874 (GRCm39) |
Y174* |
probably null |
Het |
| Pi4k2a |
T |
C |
19: 42,108,275 (GRCm39) |
|
probably null |
Het |
| Pram1 |
C |
T |
17: 33,863,878 (GRCm39) |
Q572* |
probably null |
Het |
| Prdm5 |
C |
A |
6: 65,756,158 (GRCm39) |
T25K |
probably damaging |
Het |
| Psen1 |
T |
C |
12: 83,771,439 (GRCm39) |
Y240H |
probably damaging |
Het |
| Pygl |
C |
T |
12: 70,248,666 (GRCm39) |
G318S |
probably benign |
Het |
| Rbck1 |
A |
C |
2: 152,160,371 (GRCm39) |
M436R |
probably benign |
Het |
| Resf1 |
T |
G |
6: 149,227,528 (GRCm39) |
S191R |
probably benign |
Het |
| Rmnd1 |
T |
C |
10: 4,377,488 (GRCm39) |
N64D |
possibly damaging |
Het |
| Rsph4a |
A |
G |
10: 33,784,275 (GRCm39) |
D299G |
probably damaging |
Het |
| Sema4c |
T |
C |
1: 36,590,812 (GRCm39) |
S480G |
probably benign |
Het |
| Srp68 |
T |
C |
11: 116,136,638 (GRCm39) |
D552G |
probably damaging |
Het |
| Syde2 |
G |
T |
3: 145,707,764 (GRCm39) |
A568S |
probably damaging |
Het |
| Szrd1 |
G |
T |
4: 140,867,092 (GRCm39) |
|
probably null |
Het |
| Szt2 |
A |
T |
4: 118,226,813 (GRCm39) |
|
probably null |
Het |
| Tbc1d31 |
A |
G |
15: 57,818,797 (GRCm39) |
E800G |
probably benign |
Het |
| Tmprss11d |
C |
A |
5: 86,457,122 (GRCm39) |
|
probably null |
Het |
| Usp37 |
A |
G |
1: 74,480,720 (GRCm39) |
V895A |
probably damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,382,026 (GRCm39) |
I193T |
probably benign |
Het |
| Vmn2r102 |
T |
C |
17: 19,897,834 (GRCm39) |
V283A |
probably benign |
Het |
| Vps13d |
C |
T |
4: 144,814,811 (GRCm39) |
G3180D |
probably damaging |
Het |
| Xirp2 |
A |
C |
2: 67,344,821 (GRCm39) |
D2354A |
probably benign |
Het |
| Zc3h14 |
T |
A |
12: 98,723,465 (GRCm39) |
|
probably null |
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 |
|
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'- GGACTAGGTTATGGTCACAGGAAC -3'
(R):5'- GCCAACAATGTGTCCCTGTG -3'
Sequencing Primer
(F):5'- CTCAGCAGTTAAGGGCACTG -3'
(R):5'- AACAATGTGTCCCTGTGTTCCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation