Incidental Mutation 'R7618:Ncf1'
| ID |
588994 |
| 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 |
045685-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7618 (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 A
at 134256121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 93
(T93S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016094]
[ENSMUST00000111275]
[ENSMUST00000123941]
[ENSMUST00000144086]
[ENSMUST00000146354]
|
| AlphaFold |
Q09014 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016094
AA Change: T93S
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000016094
Gene: ENSMUSG00000015950
AA Change: T93S
| 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 |
probably benign
Transcript: ENSMUST00000111275
AA Change: T93S
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000106906
Gene: ENSMUSG00000015950
AA Change: T93S
| 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 |
probably benign
Transcript: ENSMUST00000144086
AA Change: T93S
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000138547
Gene: ENSMUSG00000015950
AA Change: T93S
| 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 |
probably benign
Transcript: ENSMUST00000146354
AA Change: T93S
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000138121
Gene: ENSMUSG00000015950
AA Change: T93S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
98% (51/52) |
| 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 |
|---|
| Akap11 |
T |
C |
14: 78,736,300 (GRCm39) |
D1830G |
|
Het |
| Alms1 |
A |
G |
6: 85,655,399 (GRCm39) |
N2846S |
probably benign |
Het |
| Amt |
A |
C |
9: 108,177,077 (GRCm39) |
E228D |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,714,925 (GRCm39) |
M618V |
probably benign |
Het |
| Ankrd60 |
T |
C |
2: 173,412,834 (GRCm39) |
|
probably null |
Het |
| Aoc1 |
A |
G |
6: 48,883,320 (GRCm39) |
T399A |
possibly damaging |
Het |
| Aqp11 |
T |
A |
7: 97,386,873 (GRCm39) |
I108F |
probably benign |
Het |
| Arfgef3 |
G |
T |
10: 18,522,029 (GRCm39) |
Q666K |
probably damaging |
Het |
| Bin2 |
T |
A |
15: 100,542,894 (GRCm39) |
R430W |
probably damaging |
Het |
| Brme1 |
A |
G |
8: 84,893,499 (GRCm39) |
Q222R |
possibly damaging |
Het |
| Cdh18 |
T |
A |
15: 23,367,056 (GRCm39) |
V254D |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,183,155 (GRCm39) |
S159R |
|
Het |
| Clnk |
A |
T |
5: 38,893,698 (GRCm39) |
S220T |
probably benign |
Het |
| Col19a1 |
G |
T |
1: 24,361,165 (GRCm39) |
H608Q |
probably benign |
Het |
| Cplx1 |
C |
T |
5: 108,673,395 (GRCm39) |
E24K |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,577,601 (GRCm39) |
L2031Q |
probably damaging |
Het |
| Dok1 |
T |
C |
6: 83,009,872 (GRCm39) |
E79G |
probably benign |
Het |
| Eif4g3 |
T |
C |
4: 137,898,429 (GRCm39) |
S902P |
probably damaging |
Het |
| Emilin3 |
T |
A |
2: 160,751,199 (GRCm39) |
E183D |
probably benign |
Het |
| Fam124b |
G |
A |
1: 80,191,554 (GRCm39) |
|
probably benign |
Het |
| Gm9195 |
T |
C |
14: 72,690,275 (GRCm39) |
Y1816C |
probably damaging |
Het |
| Ighv5-9-1 |
T |
A |
12: 113,699,819 (GRCm39) |
I98F |
probably damaging |
Het |
| Il31ra |
G |
A |
13: 112,688,514 (GRCm39) |
P21L |
possibly damaging |
Het |
| Kat6a |
A |
G |
8: 23,352,578 (GRCm39) |
I121V |
possibly damaging |
Het |
| Kif11 |
T |
C |
19: 37,400,008 (GRCm39) |
W832R |
probably benign |
Het |
| Klhl9 |
T |
C |
4: 88,638,772 (GRCm39) |
T490A |
possibly damaging |
Het |
| Lars1 |
G |
T |
18: 42,377,956 (GRCm39) |
A153E |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,421,334 (GRCm39) |
I4275L |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,726,561 (GRCm39) |
C294* |
probably null |
Het |
| Nceh1 |
T |
A |
3: 27,237,366 (GRCm39) |
|
probably null |
Het |
| Nfatc2 |
G |
A |
2: 168,376,919 (GRCm39) |
R545C |
probably damaging |
Het |
| Nos1 |
C |
T |
5: 118,042,009 (GRCm39) |
P545S |
probably benign |
Het |
| Ogfod3 |
C |
A |
11: 121,093,804 (GRCm39) |
V69F |
probably damaging |
Het |
| Or4a27 |
A |
T |
2: 88,559,180 (GRCm39) |
Y254* |
probably null |
Het |
| Phf12 |
A |
G |
11: 77,916,960 (GRCm39) |
N272S |
unknown |
Het |
| Prkcz |
T |
A |
4: 155,346,939 (GRCm39) |
I581F |
probably damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,136,085 (GRCm39) |
H8R |
|
Het |
| Rb1cc1 |
T |
A |
1: 6,335,782 (GRCm39) |
|
probably null |
Het |
| Rcor2 |
T |
A |
19: 7,248,411 (GRCm39) |
M186K |
possibly damaging |
Het |
| Rnf111 |
C |
A |
9: 70,410,614 (GRCm39) |
|
probably benign |
Het |
| Sanbr |
A |
C |
11: 23,534,550 (GRCm39) |
C602W |
possibly damaging |
Het |
| Serinc3 |
A |
T |
2: 163,472,889 (GRCm39) |
F247Y |
possibly damaging |
Het |
| Serpina1c |
T |
A |
12: 103,865,029 (GRCm39) |
I206F |
probably damaging |
Het |
| Slc25a10 |
G |
A |
11: 120,387,797 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
G |
12: 75,992,108 (GRCm39) |
H1993Q |
probably benign |
Het |
| Tap1 |
A |
G |
17: 34,407,212 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Tex30 |
A |
T |
1: 44,127,410 (GRCm39) |
|
probably null |
Het |
| Ube2ql1 |
G |
T |
13: 69,887,066 (GRCm39) |
Q132K |
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,957,547 (GRCm39) |
N803D |
probably damaging |
Het |
| Vcan |
G |
A |
13: 89,840,342 (GRCm39) |
S1734F |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,707,696 (GRCm39) |
Y2630C |
|
Het |
| Wdr93 |
A |
G |
7: 79,435,474 (GRCm39) |
T668A |
probably benign |
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 |
|
R6136:Ncf1
|
UTSW |
5 |
134,255,487 (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 |
|
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'- AGAGCACTGTCTGTCTGTGG -3'
(R):5'- GAGATGTTCCCCATTGAGGC -3'
Sequencing Primer
(F):5'- ACCCTCTCTGAACTTGGGG -3'
(R):5'- TGAGAGCACGGCTTGAGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation