Incidental Mutation 'R1208:Niban3'
ID |
164828 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Niban3
|
Ensembl Gene |
ENSMUSG00000043243 |
Gene Name |
niban apoptosis regulator 3 |
Synonyms |
Fam129c, Bcnp1 |
MMRRC Submission |
039277-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1208 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
72050292-72060580 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 72053119 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 125
(T125S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123432
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034264]
[ENSMUST00000125339]
[ENSMUST00000126559]
[ENSMUST00000143662]
[ENSMUST00000127626]
[ENSMUST00000143441]
|
AlphaFold |
D3YZB0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034264
|
SMART Domains |
Protein: ENSMUSP00000034264 Gene: ENSMUSG00000031807
Domain | Start | End | E-Value | Type |
Pfam:Glucosamine_iso
|
18 |
217 |
2.1e-62 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123240
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124485
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125339
|
SMART Domains |
Protein: ENSMUSP00000119708 Gene: ENSMUSG00000043243
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
low complexity region
|
110 |
119 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125525
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126559
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000143662
AA Change: T125S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000123432 Gene: ENSMUSG00000043243 AA Change: T125S
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
PH
|
68 |
196 |
4.94e-4 |
SMART |
low complexity region
|
218 |
230 |
N/A |
INTRINSIC |
low complexity region
|
260 |
269 |
N/A |
INTRINSIC |
low complexity region
|
437 |
448 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141594
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127285
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132891
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127626
|
SMART Domains |
Protein: ENSMUSP00000122042 Gene: ENSMUSG00000031807
Domain | Start | End | E-Value | Type |
Pfam:Glucosamine_iso
|
18 |
214 |
7.2e-62 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143441
|
SMART Domains |
Protein: ENSMUSP00000116524 Gene: ENSMUSG00000031807
Domain | Start | End | E-Value | Type |
Pfam:Glucosamine_iso
|
12 |
134 |
3.8e-44 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
C |
A |
7: 29,260,708 (GRCm39) |
|
noncoding transcript |
Het |
Aadacl2fm3 |
C |
T |
3: 59,772,715 (GRCm39) |
P73L |
probably benign |
Het |
Asb14 |
T |
C |
14: 26,622,375 (GRCm39) |
|
probably benign |
Het |
Atp13a3 |
A |
T |
16: 30,173,065 (GRCm39) |
C271S |
probably benign |
Het |
Ccl25 |
T |
A |
8: 4,407,631 (GRCm39) |
S199T |
possibly damaging |
Het |
Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
Cep104 |
A |
T |
4: 154,069,836 (GRCm39) |
D270V |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,327,877 (GRCm39) |
Y2084N |
probably damaging |
Het |
Eftud2 |
A |
G |
11: 102,755,592 (GRCm39) |
V214A |
probably benign |
Het |
Epb41l4b |
C |
T |
4: 57,077,252 (GRCm39) |
|
probably null |
Het |
Gys2 |
A |
G |
6: 142,396,193 (GRCm39) |
|
probably null |
Het |
Lig4 |
T |
C |
8: 10,021,062 (GRCm39) |
E906G |
probably damaging |
Het |
Mast3 |
G |
A |
8: 71,240,916 (GRCm39) |
|
probably null |
Het |
Mta2 |
G |
A |
19: 8,928,381 (GRCm39) |
R560H |
probably damaging |
Het |
Myom2 |
T |
C |
8: 15,134,631 (GRCm39) |
L478P |
probably damaging |
Het |
Neb |
A |
T |
2: 52,193,912 (GRCm39) |
L673* |
probably null |
Het |
Or4c35 |
G |
A |
2: 89,808,836 (GRCm39) |
C238Y |
probably damaging |
Het |
Pdpk1 |
C |
A |
17: 24,312,583 (GRCm39) |
|
probably null |
Het |
Pphln1 |
T |
C |
15: 93,357,610 (GRCm39) |
W162R |
probably damaging |
Het |
Ppp1r13b |
A |
G |
12: 111,811,339 (GRCm39) |
V183A |
probably damaging |
Het |
Recql5 |
T |
C |
11: 115,783,982 (GRCm39) |
K951E |
probably damaging |
Het |
Rev1 |
T |
C |
1: 38,098,199 (GRCm39) |
|
probably benign |
Het |
Slc25a25 |
T |
C |
2: 32,307,437 (GRCm39) |
E309G |
probably benign |
Het |
Slc25a36 |
T |
C |
9: 96,967,188 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
A |
T |
2: 177,998,421 (GRCm39) |
I1033N |
possibly damaging |
Het |
Tbpl2 |
A |
T |
2: 23,984,783 (GRCm39) |
N120K |
probably benign |
Het |
Unc5b |
A |
T |
10: 60,602,771 (GRCm39) |
L876Q |
probably damaging |
Het |
Usp9y |
T |
C |
Y: 1,356,282 (GRCm39) |
T1140A |
probably benign |
Homo |
Vmn1r40 |
A |
G |
6: 89,691,326 (GRCm39) |
I48V |
probably benign |
Het |
Zbbx |
T |
C |
3: 74,945,299 (GRCm39) |
I708V |
possibly damaging |
Het |
Zfp318 |
AGAAGA |
AGAAGAGGAAGA |
17: 46,723,446 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Niban3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00985:Niban3
|
APN |
8 |
72,057,507 (GRCm39) |
splice site |
probably benign |
|
IGL01530:Niban3
|
APN |
8 |
72,056,561 (GRCm39) |
splice site |
probably benign |
|
IGL01553:Niban3
|
APN |
8 |
72,055,546 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02313:Niban3
|
APN |
8 |
72,055,504 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02341:Niban3
|
APN |
8 |
72,056,443 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL02541:Niban3
|
APN |
8 |
72,055,426 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02745:Niban3
|
APN |
8 |
72,057,682 (GRCm39) |
splice site |
probably null |
|
R0006:Niban3
|
UTSW |
8 |
72,057,688 (GRCm39) |
splice site |
probably benign |
|
R0391:Niban3
|
UTSW |
8 |
72,055,143 (GRCm39) |
splice site |
probably benign |
|
R0594:Niban3
|
UTSW |
8 |
72,051,779 (GRCm39) |
missense |
probably benign |
0.07 |
R1208:Niban3
|
UTSW |
8 |
72,053,119 (GRCm39) |
missense |
probably damaging |
0.99 |
R1643:Niban3
|
UTSW |
8 |
72,052,808 (GRCm39) |
missense |
probably benign |
0.34 |
R1848:Niban3
|
UTSW |
8 |
72,056,413 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1986:Niban3
|
UTSW |
8 |
72,056,404 (GRCm39) |
missense |
possibly damaging |
0.63 |
R2319:Niban3
|
UTSW |
8 |
72,055,408 (GRCm39) |
missense |
probably benign |
0.00 |
R4386:Niban3
|
UTSW |
8 |
72,060,155 (GRCm39) |
intron |
probably benign |
|
R4564:Niban3
|
UTSW |
8 |
72,057,704 (GRCm39) |
intron |
probably benign |
|
R4666:Niban3
|
UTSW |
8 |
72,056,469 (GRCm39) |
nonsense |
probably null |
|
R6341:Niban3
|
UTSW |
8 |
72,052,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R6364:Niban3
|
UTSW |
8 |
72,051,733 (GRCm39) |
missense |
probably benign |
0.08 |
R6888:Niban3
|
UTSW |
8 |
72,056,383 (GRCm39) |
missense |
probably benign |
|
R6890:Niban3
|
UTSW |
8 |
72,058,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R7383:Niban3
|
UTSW |
8 |
72,056,470 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7441:Niban3
|
UTSW |
8 |
72,052,808 (GRCm39) |
missense |
probably benign |
0.34 |
R7459:Niban3
|
UTSW |
8 |
72,057,671 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7527:Niban3
|
UTSW |
8 |
72,059,342 (GRCm39) |
missense |
probably damaging |
0.99 |
R7873:Niban3
|
UTSW |
8 |
72,054,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R8698:Niban3
|
UTSW |
8 |
72,060,159 (GRCm39) |
missense |
unknown |
|
R8936:Niban3
|
UTSW |
8 |
72,060,307 (GRCm39) |
utr 3 prime |
probably benign |
|
R9272:Niban3
|
UTSW |
8 |
72,055,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGGCAACCAACCTTCTGTGTTC -3'
(R):5'- GAAGTTACACACGCTGTGGGTAGG -3'
Sequencing Primer
(F):5'- gagggggtagggatgtgg -3'
(R):5'- CACGCTGTGGGTAGGAAATTG -3'
|
Posted On |
2014-03-28 |