Incidental Mutation 'IGL00572:Ncf2'
| ID |
12294 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ncf2
|
| Ensembl Gene |
ENSMUSG00000026480 |
| Gene Name |
neutrophil cytosolic factor 2 |
| Synonyms |
NADPH oxidase subunit (67kDa), Ncf-2, p67phox, NOXA2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
IGL00572
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
152675945-152712742 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 152683925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 48
(T48N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027754]
[ENSMUST00000186568]
[ENSMUST00000190323]
|
| AlphaFold |
O70145 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027754
AA Change: T48N
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000027754
Gene: ENSMUSG00000026480
AA Change: T48N
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
37 |
70 |
1.42e0 |
SMART |
|
TPR
|
71 |
104 |
3.58e-6 |
SMART |
|
TPR
|
121 |
154 |
1.05e1 |
SMART |
|
SH3
|
243 |
298 |
1.02e-13 |
SMART |
|
low complexity region
|
312 |
326 |
N/A |
INTRINSIC |
|
PB1
|
350 |
428 |
2.6e-10 |
SMART |
|
SH3
|
459 |
514 |
8.36e-19 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186568
AA Change: T48N
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140404
Gene: ENSMUSG00000026480
AA Change: T48N
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
37 |
70 |
1.42e0 |
SMART |
|
TPR
|
71 |
104 |
3.58e-6 |
SMART |
|
TPR
|
121 |
154 |
1.05e1 |
SMART |
|
SH3
|
243 |
298 |
1.02e-13 |
SMART |
|
low complexity region
|
312 |
326 |
N/A |
INTRINSIC |
|
PB1
|
350 |
428 |
2.6e-10 |
SMART |
|
SH3
|
459 |
514 |
8.36e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187641
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189135
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190323
|
| SMART Domains |
Protein: ENSMUSP00000139774
Gene: ENSMUSG00000026480
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_1
|
1 |
26 |
5.8e-4 |
PFAM |
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
A |
G |
17: 56,127,648 (GRCm39) |
I563V |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,532,134 (GRCm39) |
L1033P |
probably damaging |
Het |
| Aqr |
A |
C |
2: 113,956,423 (GRCm39) |
I840M |
possibly damaging |
Het |
| Bmper |
G |
A |
9: 23,317,823 (GRCm39) |
V481M |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,463,595 (GRCm39) |
E683G |
probably damaging |
Het |
| Cpn1 |
A |
G |
19: 43,952,268 (GRCm39) |
V338A |
probably damaging |
Het |
| Cs |
A |
G |
10: 128,196,833 (GRCm39) |
|
probably benign |
Het |
| Gm4540 |
C |
T |
3: 105,942,123 (GRCm39) |
|
probably benign |
Het |
| Hdc |
A |
G |
2: 126,443,792 (GRCm39) |
F296L |
probably benign |
Het |
| Helt |
T |
C |
8: 46,746,559 (GRCm39) |
E32G |
probably damaging |
Het |
| Hivep1 |
C |
T |
13: 42,312,347 (GRCm39) |
A1529V |
probably benign |
Het |
| Klk1b4 |
A |
T |
7: 43,860,198 (GRCm39) |
H104L |
possibly damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,506,236 (GRCm39) |
F1911L |
probably benign |
Het |
| Phkg1 |
G |
A |
5: 129,893,914 (GRCm39) |
Q274* |
probably null |
Het |
| Slc1a2 |
A |
G |
2: 102,607,921 (GRCm39) |
D520G |
possibly damaging |
Het |
| Slc25a10 |
G |
T |
11: 120,387,933 (GRCm39) |
|
probably null |
Het |
| Slc8a1 |
A |
T |
17: 81,696,155 (GRCm39) |
S960T |
probably damaging |
Het |
| Sp140 |
G |
A |
1: 85,549,393 (GRCm39) |
R208K |
probably benign |
Het |
| St7 |
A |
G |
6: 17,855,005 (GRCm39) |
E245G |
probably damaging |
Het |
| Sypl1 |
T |
A |
12: 33,004,293 (GRCm39) |
S2T |
probably damaging |
Het |
| Tbx20 |
T |
C |
9: 24,636,984 (GRCm39) |
T368A |
probably benign |
Het |
| Tmem126a |
T |
C |
7: 90,100,040 (GRCm39) |
T168A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,576,934 (GRCm39) |
D24653G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,777,323 (GRCm39) |
S1360P |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,280,203 (GRCm39) |
F282L |
probably benign |
Het |
| Usp36 |
A |
T |
11: 118,155,646 (GRCm39) |
N875K |
possibly damaging |
Het |
| Usp9x |
C |
A |
X: 12,991,815 (GRCm39) |
H869N |
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 52,998,579 (GRCm39) |
E223G |
probably benign |
Het |
| Zfp729a |
G |
A |
13: 67,767,440 (GRCm39) |
P930S |
probably benign |
Het |
| Zscan10 |
G |
A |
17: 23,828,435 (GRCm39) |
V216M |
probably damaging |
Het |
|
| Other mutations in Ncf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Ncf2
|
APN |
1 |
152,711,857 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01504:Ncf2
|
APN |
1 |
152,709,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01693:Ncf2
|
APN |
1 |
152,700,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02005:Ncf2
|
APN |
1 |
152,692,803 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02041:Ncf2
|
APN |
1 |
152,711,871 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02327:Ncf2
|
APN |
1 |
152,692,744 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02366:Ncf2
|
APN |
1 |
152,710,824 (GRCm39) |
missense |
probably benign |
|
|
IGL02627:Ncf2
|
APN |
1 |
152,686,759 (GRCm39) |
splice site |
probably benign |
|
|
R0560:Ncf2
|
UTSW |
1 |
152,697,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1136:Ncf2
|
UTSW |
1 |
152,706,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1640:Ncf2
|
UTSW |
1 |
152,683,784 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R1673:Ncf2
|
UTSW |
1 |
152,706,230 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1836:Ncf2
|
UTSW |
1 |
152,683,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1873:Ncf2
|
UTSW |
1 |
152,701,661 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1940:Ncf2
|
UTSW |
1 |
152,709,815 (GRCm39) |
splice site |
probably benign |
|
|
R1967:Ncf2
|
UTSW |
1 |
152,706,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3405:Ncf2
|
UTSW |
1 |
152,701,698 (GRCm39) |
unclassified |
probably benign |
|
|
R3406:Ncf2
|
UTSW |
1 |
152,701,698 (GRCm39) |
unclassified |
probably benign |
|
|
R4501:Ncf2
|
UTSW |
1 |
152,710,784 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4503:Ncf2
|
UTSW |
1 |
152,709,529 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4563:Ncf2
|
UTSW |
1 |
152,683,976 (GRCm39) |
intron |
probably benign |
|
|
R5841:Ncf2
|
UTSW |
1 |
152,697,269 (GRCm39) |
splice site |
silent |
|
|
R6336:Ncf2
|
UTSW |
1 |
152,709,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6385:Ncf2
|
UTSW |
1 |
152,706,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6522:Ncf2
|
UTSW |
1 |
152,703,214 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6811:Ncf2
|
UTSW |
1 |
152,711,791 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7048:Ncf2
|
UTSW |
1 |
152,683,921 (GRCm39) |
missense |
probably benign |
|
|
R8224:Ncf2
|
UTSW |
1 |
152,706,144 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8256:Ncf2
|
UTSW |
1 |
152,692,851 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8863:Ncf2
|
UTSW |
1 |
152,711,864 (GRCm39) |
makesense |
probably null |
|
|
X0066:Ncf2
|
UTSW |
1 |
152,686,730 (GRCm39) |
start codon destroyed |
probably null |
0.27 |
|
Z1177:Ncf2
|
UTSW |
1 |
152,701,693 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation