Incidental Mutation 'R6136:Ncf1'
| ID |
488346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncf1
|
| Ensembl Gene |
ENSMUSG00000015950 |
| Gene Name |
neutrophil cytosolic factor 1 |
| Synonyms |
p47, Ncf-1, p47phox, NADPH oxidase subunit (47kDa), NOXO2 |
| MMRRC Submission |
044283-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6136 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
134248907-134258479 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134255487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 135
(K135E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016094]
[ENSMUST00000111275]
[ENSMUST00000123941]
[ENSMUST00000144086]
[ENSMUST00000146354]
|
| AlphaFold |
Q09014 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016094
AA Change: K135E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000016094
Gene: ENSMUSG00000015950
AA Change: K135E
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
4 |
121 |
2.14e-25 |
SMART |
|
SH3
|
159 |
214 |
2.17e-17 |
SMART |
|
SH3
|
229 |
284 |
1.02e-13 |
SMART |
|
Pfam:p47_phox_C
|
332 |
403 |
1.3e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111275
AA Change: K135E
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106906
Gene: ENSMUSG00000015950
AA Change: K135E
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
4 |
121 |
2.14e-25 |
SMART |
|
SH3
|
159 |
214 |
2.17e-17 |
SMART |
|
SH3
|
229 |
284 |
1.02e-13 |
SMART |
|
Pfam:p47_phox_C
|
332 |
390 |
5.8e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123941
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126934
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139249
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144086
AA Change: K135E
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000138547
Gene: ENSMUSG00000015950
AA Change: K135E
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
4 |
121 |
2.14e-25 |
SMART |
|
SH3
|
159 |
214 |
2.17e-17 |
SMART |
|
SH3
|
229 |
284 |
1.02e-13 |
SMART |
|
low complexity region
|
336 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
367 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146354
AA Change: K135E
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138121
Gene: ENSMUSG00000015950
AA Change: K135E
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
4 |
121 |
2.14e-25 |
SMART |
|
SH3
|
159 |
214 |
2.17e-17 |
SMART |
|
SH3
|
229 |
284 |
1.02e-13 |
SMART |
|
Pfam:p47_phox_C
|
332 |
390 |
5.8e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182626
|
| Meta Mutation Damage Score |
0.4746 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this gene causes severe spontaneous infections and granulomatous inflammation and may alter synaptic plasticity and memory, RAS activation, blood pressure control, airway smooth muscle function, neointima formation, vasoconstriction and the response to myocardial infarction. [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 |
|---|
| 3100002H09Rik |
C |
A |
4: 124,504,181 (GRCm39) |
G124C |
unknown |
Het |
| 3425401B19Rik |
A |
T |
14: 32,384,239 (GRCm39) |
D575E |
possibly damaging |
Het |
| Abca15 |
A |
T |
7: 119,939,272 (GRCm39) |
H222L |
possibly damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,504,507 (GRCm39) |
V1013A |
probably benign |
Het |
| Arsj |
T |
C |
3: 126,158,424 (GRCm39) |
M1T |
probably null |
Het |
| Atp10a |
A |
C |
7: 58,478,088 (GRCm39) |
Q1377P |
probably benign |
Het |
| Atrip |
T |
A |
9: 108,900,804 (GRCm39) |
E178D |
probably damaging |
Het |
| Cblif |
G |
A |
19: 11,727,649 (GRCm39) |
A158T |
probably damaging |
Het |
| Chadl |
T |
C |
15: 81,577,755 (GRCm39) |
N625D |
probably benign |
Het |
| Chrng |
G |
A |
1: 87,137,523 (GRCm39) |
V320I |
probably benign |
Het |
| Cox11 |
T |
C |
11: 90,535,221 (GRCm39) |
L84P |
probably damaging |
Het |
| Dchs1 |
T |
G |
7: 105,410,132 (GRCm39) |
T1747P |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,597,227 (GRCm39) |
K3529E |
probably damaging |
Het |
| Ecd |
T |
C |
14: 20,370,859 (GRCm39) |
N620S |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,245,052 (GRCm39) |
K278N |
possibly damaging |
Het |
| Fcho2 |
T |
C |
13: 98,926,275 (GRCm39) |
K103E |
probably damaging |
Het |
| Fzd7 |
T |
G |
1: 59,522,419 (GRCm39) |
F101V |
probably damaging |
Het |
| Galnt13 |
G |
T |
2: 54,406,491 (GRCm39) |
|
probably benign |
Het |
| Gm32647 |
C |
T |
7: 94,124,939 (GRCm39) |
|
|
Het |
| Gm5624 |
A |
T |
14: 44,797,333 (GRCm39) |
D152E |
probably benign |
Het |
| Heatr6 |
T |
A |
11: 83,663,329 (GRCm39) |
V664E |
possibly damaging |
Het |
| Hpgd |
A |
G |
8: 56,747,987 (GRCm39) |
D36G |
probably damaging |
Het |
| Ifnlr1 |
A |
G |
4: 135,431,108 (GRCm39) |
T199A |
possibly damaging |
Het |
| Kalrn |
T |
G |
16: 34,177,481 (GRCm39) |
D228A |
probably damaging |
Het |
| Miox |
T |
C |
15: 89,219,524 (GRCm39) |
M47T |
probably damaging |
Het |
| Nampt |
A |
T |
12: 32,880,301 (GRCm39) |
I65F |
probably benign |
Het |
| Nop53 |
G |
A |
7: 15,672,314 (GRCm39) |
Q452* |
probably null |
Het |
| Or8u10 |
A |
G |
2: 85,915,245 (GRCm39) |
L292S |
probably damaging |
Het |
| Pik3cg |
A |
G |
12: 32,254,358 (GRCm39) |
V543A |
probably benign |
Het |
| Ralgds |
T |
C |
2: 28,440,577 (GRCm39) |
|
probably null |
Het |
| Rap1a |
A |
G |
3: 105,657,598 (GRCm39) |
V7A |
probably damaging |
Het |
| Rasal1 |
T |
C |
5: 120,813,543 (GRCm39) |
V639A |
possibly damaging |
Het |
| Rassf8 |
A |
G |
6: 145,761,382 (GRCm39) |
N236S |
probably benign |
Het |
| Rbm47 |
G |
C |
5: 66,183,626 (GRCm39) |
R326G |
probably damaging |
Het |
| Sbno1 |
T |
C |
5: 124,516,554 (GRCm39) |
D1272G |
probably benign |
Het |
| Setx |
A |
G |
2: 29,038,039 (GRCm39) |
D1508G |
probably benign |
Het |
| Slc1a1 |
T |
A |
19: 28,882,810 (GRCm39) |
L358Q |
probably damaging |
Het |
| Slc7a12 |
C |
A |
3: 14,564,186 (GRCm39) |
L20I |
probably benign |
Het |
| Spata31g1 |
T |
C |
4: 42,972,853 (GRCm39) |
S729P |
probably damaging |
Het |
| Spats2l |
C |
T |
1: 57,941,302 (GRCm39) |
T187M |
probably damaging |
Het |
| Specc1l |
A |
G |
10: 75,082,494 (GRCm39) |
D647G |
probably benign |
Het |
| Steap4 |
G |
A |
5: 8,028,562 (GRCm39) |
R380Q |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,952,099 (GRCm39) |
S456G |
probably benign |
Het |
| Tfcp2 |
G |
T |
15: 100,410,194 (GRCm39) |
T391N |
probably damaging |
Het |
| Tns2 |
T |
A |
15: 102,015,465 (GRCm39) |
D122E |
probably damaging |
Het |
| Tshr |
A |
G |
12: 91,505,008 (GRCm39) |
M649V |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,824,107 (GRCm39) |
T1440A |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,756,831 (GRCm39) |
D846G |
probably benign |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,632 (GRCm39) |
T262A |
possibly damaging |
Het |
| Vmn2r61 |
G |
T |
7: 41,916,455 (GRCm39) |
W356L |
probably damaging |
Het |
| Wdr11 |
T |
A |
7: 129,220,427 (GRCm39) |
M605K |
possibly damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
|
| Other mutations in Ncf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01532:Ncf1
|
APN |
5 |
134,255,447 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02718:Ncf1
|
APN |
5 |
134,256,302 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0143:Ncf1
|
UTSW |
5 |
134,255,991 (GRCm39) |
splice site |
probably benign |
|
|
R0313:Ncf1
|
UTSW |
5 |
134,258,421 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R0413:Ncf1
|
UTSW |
5 |
134,251,656 (GRCm39) |
splice site |
probably benign |
|
|
R2037:Ncf1
|
UTSW |
5 |
134,258,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2042:Ncf1
|
UTSW |
5 |
134,255,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2511:Ncf1
|
UTSW |
5 |
134,254,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3545:Ncf1
|
UTSW |
5 |
134,255,463 (GRCm39) |
nonsense |
probably null |
|
|
R3547:Ncf1
|
UTSW |
5 |
134,255,463 (GRCm39) |
nonsense |
probably null |
|
|
R3548:Ncf1
|
UTSW |
5 |
134,255,463 (GRCm39) |
nonsense |
probably null |
|
|
R4751:Ncf1
|
UTSW |
5 |
134,258,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4989:Ncf1
|
UTSW |
5 |
134,252,267 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5288:Ncf1
|
UTSW |
5 |
134,250,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Ncf1
|
UTSW |
5 |
134,250,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Ncf1
|
UTSW |
5 |
134,250,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5590:Ncf1
|
UTSW |
5 |
134,252,355 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6059:Ncf1
|
UTSW |
5 |
134,252,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7023:Ncf1
|
UTSW |
5 |
134,254,116 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7310:Ncf1
|
UTSW |
5 |
134,250,615 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7618:Ncf1
|
UTSW |
5 |
134,256,121 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7838:Ncf1
|
UTSW |
5 |
134,250,949 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8787:Ncf1
|
UTSW |
5 |
134,254,145 (GRCm39) |
nonsense |
probably null |
|
|
R9227:Ncf1
|
UTSW |
5 |
134,250,718 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9230:Ncf1
|
UTSW |
5 |
134,250,718 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9276:Ncf1
|
UTSW |
5 |
134,250,693 (GRCm39) |
nonsense |
probably null |
|
|
R9733:Ncf1
|
UTSW |
5 |
134,250,899 (GRCm39) |
missense |
probably benign |
|
|
R9778:Ncf1
|
UTSW |
5 |
134,258,444 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCAATCTCCAAGGTGACATG -3'
(R):5'- AAGTATGGCTGCATAGACACCC -3'
Sequencing Primer
(F):5'- GGTGACATGACCCCATAGC -3'
(R):5'- CCCCTCATTTGTAAGACACTCTGTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation