Incidental Mutation 'R0948:Niban2'
ID |
81689 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Niban2
|
Ensembl Gene |
ENSMUSG00000026796 |
Gene Name |
niban apoptosis regulator 2 |
Synonyms |
9130404D14Rik, Fam129b |
MMRRC Submission |
039087-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.154)
|
Stock # |
R0948 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
32766146-32815265 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32812872 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 480
(Y480C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028132]
[ENSMUST00000028135]
[ENSMUST00000113200]
|
AlphaFold |
Q8R1F1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028132
|
SMART Domains |
Protein: ENSMUSP00000028132 Gene: ENSMUSG00000026792
Domain | Start | End | E-Value | Type |
LRR
|
80 |
102 |
1.26e1 |
SMART |
LRR
|
103 |
125 |
9.3e-1 |
SMART |
LRR
|
126 |
148 |
1.91e1 |
SMART |
LRR
|
149 |
171 |
7.05e-1 |
SMART |
Blast:IlGF
|
191 |
321 |
1e-71 |
BLAST |
low complexity region
|
322 |
333 |
N/A |
INTRINSIC |
low complexity region
|
474 |
493 |
N/A |
INTRINSIC |
coiled coil region
|
500 |
547 |
N/A |
INTRINSIC |
SAM
|
566 |
632 |
2.42e-2 |
SMART |
RING
|
679 |
713 |
3.51e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028135
AA Change: Y480C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000028135 Gene: ENSMUSG00000026796 AA Change: Y480C
Domain | Start | End | E-Value | Type |
PH
|
69 |
194 |
1.81e-2 |
SMART |
low complexity region
|
594 |
607 |
N/A |
INTRINSIC |
low complexity region
|
685 |
700 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113200
|
SMART Domains |
Protein: ENSMUSP00000108825 Gene: ENSMUSG00000026792
Domain | Start | End | E-Value | Type |
LRR
|
80 |
102 |
1.26e1 |
SMART |
LRR
|
103 |
125 |
9.3e-1 |
SMART |
LRR
|
126 |
148 |
1.91e1 |
SMART |
LRR
|
149 |
171 |
7.05e-1 |
SMART |
Blast:IlGF
|
191 |
321 |
1e-71 |
BLAST |
low complexity region
|
322 |
333 |
N/A |
INTRINSIC |
low complexity region
|
474 |
493 |
N/A |
INTRINSIC |
coiled coil region
|
500 |
547 |
N/A |
INTRINSIC |
SAM
|
566 |
632 |
2.42e-2 |
SMART |
RING
|
679 |
713 |
3.51e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150875
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151607
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154514
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.4%
- 20x: 92.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009A15Rik |
C |
T |
19: 8,867,390 (GRCm39) |
T63M |
probably damaging |
Het |
Abcb1a |
T |
A |
5: 8,790,621 (GRCm39) |
|
probably null |
Het |
Ahrr |
T |
C |
13: 74,361,888 (GRCm39) |
D537G |
probably damaging |
Het |
Anxa4 |
T |
A |
6: 86,718,913 (GRCm39) |
I269F |
probably damaging |
Het |
Aoc1l1 |
A |
G |
6: 48,953,278 (GRCm39) |
Y401C |
probably damaging |
Het |
Atm |
A |
T |
9: 53,407,258 (GRCm39) |
M1160K |
probably benign |
Het |
Ccdc175 |
A |
G |
12: 72,177,897 (GRCm39) |
Y434H |
probably damaging |
Het |
Col19a1 |
C |
T |
1: 24,335,882 (GRCm39) |
A855T |
probably damaging |
Het |
Cyp2a4 |
A |
G |
7: 26,010,213 (GRCm39) |
D246G |
probably damaging |
Het |
Dmbt1 |
T |
C |
7: 130,694,847 (GRCm39) |
L840P |
possibly damaging |
Het |
Dock6 |
A |
T |
9: 21,712,829 (GRCm39) |
D2009E |
probably damaging |
Het |
E2f3 |
C |
T |
13: 30,169,516 (GRCm39) |
A46T |
probably damaging |
Het |
Ect2l |
A |
T |
10: 18,016,334 (GRCm39) |
C635S |
probably damaging |
Het |
Fer1l6 |
A |
G |
15: 58,435,924 (GRCm39) |
D439G |
probably benign |
Het |
Hao1 |
A |
C |
2: 134,372,693 (GRCm39) |
M105R |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Igsf10 |
A |
G |
3: 59,238,525 (GRCm39) |
I552T |
probably damaging |
Het |
Il31ra |
A |
G |
13: 112,666,912 (GRCm39) |
S470P |
possibly damaging |
Het |
Mfsd1 |
A |
G |
3: 67,504,067 (GRCm39) |
N353S |
possibly damaging |
Het |
Mga |
T |
A |
2: 119,772,140 (GRCm39) |
F1667I |
possibly damaging |
Het |
Nwd2 |
T |
C |
5: 63,964,655 (GRCm39) |
V1413A |
probably damaging |
Het |
Or8b1 |
T |
G |
9: 38,400,244 (GRCm39) |
S306R |
probably benign |
Het |
Or8b50 |
G |
A |
9: 38,517,787 (GRCm39) |
V9I |
possibly damaging |
Het |
Osbpl10 |
T |
A |
9: 114,996,187 (GRCm39) |
V119E |
probably damaging |
Het |
Plec |
C |
A |
15: 76,089,887 (GRCm39) |
R151L |
probably benign |
Het |
Ptpn12 |
T |
C |
5: 21,203,041 (GRCm39) |
H579R |
probably benign |
Het |
Rnase4 |
G |
T |
14: 51,342,362 (GRCm39) |
G29C |
probably damaging |
Het |
Sim1 |
C |
A |
10: 50,857,423 (GRCm39) |
S391* |
probably null |
Het |
Sobp |
A |
T |
10: 42,898,205 (GRCm39) |
I460N |
probably damaging |
Het |
Spns3 |
A |
T |
11: 72,436,766 (GRCm39) |
D75E |
probably damaging |
Het |
Strn4 |
T |
A |
7: 16,571,638 (GRCm39) |
C26* |
probably null |
Het |
Tacstd2 |
T |
A |
6: 67,512,102 (GRCm39) |
I197L |
probably damaging |
Het |
Trpc6 |
A |
G |
9: 8,610,416 (GRCm39) |
T295A |
possibly damaging |
Het |
Txnl1 |
G |
T |
18: 63,825,191 (GRCm39) |
S18R |
possibly damaging |
Het |
U2surp |
A |
G |
9: 95,343,550 (GRCm39) |
|
probably benign |
Het |
Ube2frt |
A |
T |
12: 36,140,934 (GRCm39) |
|
probably benign |
Het |
Vwce |
A |
G |
19: 10,630,441 (GRCm39) |
Y500C |
probably damaging |
Het |
Wdr49 |
A |
C |
3: 75,358,158 (GRCm39) |
S196A |
probably benign |
Het |
Wfs1 |
T |
C |
5: 37,124,905 (GRCm39) |
Y662C |
probably damaging |
Het |
Wnt8b |
A |
C |
19: 44,498,968 (GRCm39) |
D133A |
possibly damaging |
Het |
Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
Zfp532 |
C |
A |
18: 65,756,889 (GRCm39) |
A274E |
probably damaging |
Het |
Zfp74 |
A |
G |
7: 29,635,362 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Niban2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00543:Niban2
|
APN |
2 |
32,802,483 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01072:Niban2
|
APN |
2 |
32,802,427 (GRCm39) |
unclassified |
probably benign |
|
IGL01874:Niban2
|
APN |
2 |
32,795,779 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02302:Niban2
|
APN |
2 |
32,811,135 (GRCm39) |
missense |
probably benign |
|
IGL02681:Niban2
|
APN |
2 |
32,801,402 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03126:Niban2
|
APN |
2 |
32,766,398 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03240:Niban2
|
APN |
2 |
32,812,109 (GRCm39) |
missense |
probably benign |
0.00 |
R0125:Niban2
|
UTSW |
2 |
32,813,833 (GRCm39) |
missense |
probably benign |
0.17 |
R1195:Niban2
|
UTSW |
2 |
32,809,815 (GRCm39) |
missense |
probably benign |
|
R1195:Niban2
|
UTSW |
2 |
32,809,815 (GRCm39) |
missense |
probably benign |
|
R1195:Niban2
|
UTSW |
2 |
32,809,815 (GRCm39) |
missense |
probably benign |
|
R2130:Niban2
|
UTSW |
2 |
32,813,659 (GRCm39) |
missense |
probably benign |
0.34 |
R2408:Niban2
|
UTSW |
2 |
32,813,482 (GRCm39) |
missense |
probably damaging |
1.00 |
R4881:Niban2
|
UTSW |
2 |
32,812,590 (GRCm39) |
nonsense |
probably null |
|
R5506:Niban2
|
UTSW |
2 |
32,810,994 (GRCm39) |
missense |
probably damaging |
0.96 |
R5748:Niban2
|
UTSW |
2 |
32,809,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R5857:Niban2
|
UTSW |
2 |
32,799,920 (GRCm39) |
missense |
probably benign |
0.28 |
R6011:Niban2
|
UTSW |
2 |
32,812,877 (GRCm39) |
missense |
probably damaging |
0.99 |
R6088:Niban2
|
UTSW |
2 |
32,813,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R6720:Niban2
|
UTSW |
2 |
32,795,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R6763:Niban2
|
UTSW |
2 |
32,801,460 (GRCm39) |
critical splice donor site |
probably null |
|
R6769:Niban2
|
UTSW |
2 |
32,785,666 (GRCm39) |
|
|
|
R7296:Niban2
|
UTSW |
2 |
32,812,654 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7769:Niban2
|
UTSW |
2 |
32,809,844 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7888:Niban2
|
UTSW |
2 |
32,812,137 (GRCm39) |
nonsense |
probably null |
|
R8282:Niban2
|
UTSW |
2 |
32,809,029 (GRCm39) |
missense |
probably benign |
0.02 |
R8685:Niban2
|
UTSW |
2 |
32,809,101 (GRCm39) |
missense |
probably benign |
0.03 |
R8729:Niban2
|
UTSW |
2 |
32,799,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R8878:Niban2
|
UTSW |
2 |
32,811,105 (GRCm39) |
missense |
probably benign |
0.00 |
R8916:Niban2
|
UTSW |
2 |
32,811,106 (GRCm39) |
missense |
possibly damaging |
0.47 |
R9676:Niban2
|
UTSW |
2 |
32,802,581 (GRCm39) |
missense |
probably benign |
0.00 |
R9772:Niban2
|
UTSW |
2 |
32,795,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGAAGGTGAGCCTGACTCCATTG -3'
(R):5'- TTCAAAGATCAGCTCCTGGAAGCG -3'
Sequencing Primer
(F):5'- CCTGACTCCATTGGGCTG -3'
(R):5'- TGGAAGCGTGGCAGCTC -3'
|
Posted On |
2013-11-08 |