Incidental Mutation 'R5187:Niban1'
| ID |
397936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Niban1
|
| Ensembl Gene |
ENSMUSG00000026483 |
| Gene Name |
niban apoptosis regulator 1 |
| Synonyms |
Fam129a, Niban |
| MMRRC Submission |
042766-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5187 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
151447124-151596791 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 151579580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 433
(L433Q)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000097541
AA Change: L433Q
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000095148
Gene: ENSMUSG00000026483
AA Change: L433Q
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
70 |
197 |
2e-83 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148810
AA Change: L433Q
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115822
Gene: ENSMUSG00000026483
AA Change: L433Q
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Abcg5 |
A |
G |
17: 84,965,992 (GRCm39) |
L628S |
probably damaging |
Het |
| Acbd3 |
C |
T |
1: 180,564,297 (GRCm39) |
R201* |
probably null |
Het |
| Adsl |
A |
G |
15: 80,833,106 (GRCm39) |
|
probably benign |
Het |
| Asic1 |
GCACC |
GCACCACC |
15: 99,596,684 (GRCm39) |
|
probably benign |
Het |
| Cachd1 |
T |
C |
4: 100,823,397 (GRCm39) |
V483A |
possibly damaging |
Het |
| Calm1 |
T |
C |
12: 100,166,472 (GRCm39) |
S19P |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,040,641 (GRCm39) |
N313S |
possibly damaging |
Het |
| Cav2 |
G |
T |
6: 17,286,935 (GRCm39) |
A64S |
possibly damaging |
Het |
| Ccdc167 |
C |
A |
17: 29,924,485 (GRCm39) |
A39S |
possibly damaging |
Het |
| Cd274 |
T |
C |
19: 29,359,936 (GRCm39) |
L247P |
probably benign |
Het |
| Cdhr5 |
T |
C |
7: 140,854,361 (GRCm39) |
E138G |
probably damaging |
Het |
| Cltb |
C |
T |
13: 54,741,693 (GRCm39) |
C81Y |
probably benign |
Het |
| Clvs1 |
T |
C |
4: 9,281,865 (GRCm39) |
L103P |
possibly damaging |
Het |
| Cntrob |
G |
T |
11: 69,212,717 (GRCm39) |
Q106K |
possibly damaging |
Het |
| Ctsh |
T |
C |
9: 89,936,643 (GRCm39) |
L14P |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,292,379 (GRCm39) |
N3268S |
probably damaging |
Het |
| Cyb5r4 |
T |
C |
9: 86,909,001 (GRCm39) |
V26A |
possibly damaging |
Het |
| Ddx18 |
A |
G |
1: 121,489,857 (GRCm39) |
I184T |
probably damaging |
Het |
| Ddx60 |
T |
A |
8: 62,427,222 (GRCm39) |
W766R |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dnah5 |
G |
A |
15: 28,272,318 (GRCm39) |
V1041I |
probably benign |
Het |
| Dnajc21 |
A |
T |
15: 10,464,050 (GRCm39) |
N38K |
probably benign |
Het |
| Ermap |
T |
C |
4: 119,043,015 (GRCm39) |
|
probably null |
Het |
| Fryl |
A |
G |
5: 73,243,943 (GRCm39) |
L1209P |
possibly damaging |
Het |
| Gm5093 |
T |
C |
17: 46,750,799 (GRCm39) |
E76G |
possibly damaging |
Het |
| Grk6 |
T |
C |
13: 55,599,519 (GRCm39) |
C169R |
probably damaging |
Het |
| Hmgn1 |
A |
T |
16: 95,923,627 (GRCm39) |
|
probably null |
Het |
| Lpcat2b |
T |
A |
5: 107,582,001 (GRCm39) |
Y443* |
probably null |
Het |
| Macf1 |
T |
A |
4: 123,365,882 (GRCm39) |
M1395L |
probably benign |
Het |
| Mllt10 |
C |
T |
2: 18,213,585 (GRCm39) |
Q997* |
probably null |
Het |
| Mocos |
T |
A |
18: 24,825,611 (GRCm39) |
V722E |
probably damaging |
Het |
| Moxd2 |
A |
T |
6: 40,856,271 (GRCm39) |
L534M |
probably benign |
Het |
| Mphosph10 |
T |
C |
7: 64,035,568 (GRCm39) |
M368V |
possibly damaging |
Het |
| Myo15a |
G |
A |
11: 60,394,440 (GRCm39) |
G2383D |
probably damaging |
Het |
| Myo5b |
T |
C |
18: 74,834,745 (GRCm39) |
I935T |
possibly damaging |
Het |
| Ndst4 |
T |
A |
3: 125,231,560 (GRCm39) |
L43H |
probably damaging |
Het |
| Nsl1 |
A |
G |
1: 190,807,387 (GRCm39) |
N189D |
probably benign |
Het |
| Odad1 |
A |
G |
7: 45,578,540 (GRCm39) |
I77V |
probably damaging |
Het |
| Or51e1 |
A |
T |
7: 102,358,868 (GRCm39) |
H134L |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,007,594 (GRCm39) |
D323G |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,279,448 (GRCm39) |
S2957P |
possibly damaging |
Het |
| Prdm9 |
T |
G |
17: 15,783,155 (GRCm39) |
E42D |
probably damaging |
Het |
| Rasal1 |
C |
A |
5: 120,813,460 (GRCm39) |
H611Q |
probably benign |
Het |
| Relch |
T |
A |
1: 105,646,534 (GRCm39) |
L620* |
probably null |
Het |
| Rif1 |
T |
A |
2: 51,971,301 (GRCm39) |
W260R |
probably damaging |
Het |
| Rpain |
A |
G |
11: 70,864,658 (GRCm39) |
D115G |
probably benign |
Het |
| Rpl3l |
T |
C |
17: 24,951,429 (GRCm39) |
V110A |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,787,338 (GRCm39) |
I1012F |
probably damaging |
Het |
| Sema4f |
A |
G |
6: 82,894,631 (GRCm39) |
V480A |
probably benign |
Het |
| Slc35a3 |
T |
A |
3: 116,474,794 (GRCm39) |
K199N |
probably damaging |
Het |
| Slc5a6 |
T |
C |
5: 31,200,322 (GRCm39) |
Y121C |
probably damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,291,514 (GRCm39) |
|
probably null |
Het |
| Sort1 |
T |
A |
3: 108,231,992 (GRCm39) |
I172N |
probably damaging |
Het |
| Spink5 |
C |
A |
18: 44,122,518 (GRCm39) |
H328N |
probably damaging |
Het |
| Tbl1xr1 |
A |
G |
3: 22,263,770 (GRCm39) |
D504G |
probably damaging |
Het |
| Tcaf3 |
C |
T |
6: 42,573,954 (GRCm39) |
C86Y |
possibly damaging |
Het |
| Tfap2e |
T |
C |
4: 126,628,434 (GRCm39) |
D174G |
probably benign |
Het |
| Tmem42 |
T |
C |
9: 122,851,232 (GRCm39) |
V65A |
probably damaging |
Het |
| Vmn1r225 |
C |
G |
17: 20,723,177 (GRCm39) |
T206R |
probably damaging |
Het |
| Vmn2r38 |
A |
G |
7: 9,100,571 (GRCm39) |
F65S |
probably benign |
Het |
| Vmn2r87 |
A |
T |
10: 130,333,208 (GRCm39) |
L14Q |
probably null |
Het |
| Xirp2 |
T |
C |
2: 67,345,711 (GRCm39) |
S2651P |
probably benign |
Het |
| Zfp429 |
G |
A |
13: 67,538,959 (GRCm39) |
L162F |
probably damaging |
Het |
| Zhx1 |
A |
T |
15: 57,915,819 (GRCm39) |
M809K |
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 |
|
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'- TCGGATAAAGTGGTCCAAGC -3'
(R):5'- CCTCACTTTCCTGAGCTGAAG -3'
Sequencing Primer
(F):5'- GCGTACACTTGATTGTTTCACAACAC -3'
(R):5'- GCTGAAGAGCACCATGGACAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation