Incidental Mutation 'IGL03324:Nlrp4f'
ID |
416573 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nlrp4f
|
Ensembl Gene |
ENSMUSG00000032999 |
Gene Name |
NLR family, pyrin domain containing 4F |
Synonyms |
Nalp4f, C330026N02Rik, Nalp-kappa |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
IGL03324
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
65324925-65353530 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 65343042 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 179
(E179G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152824
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037372]
[ENSMUST00000220448]
[ENSMUST00000221659]
[ENSMUST00000222273]
[ENSMUST00000222514]
[ENSMUST00000222559]
[ENSMUST00000223418]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037372
AA Change: E201G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000041908 Gene: ENSMUSG00000032999 AA Change: E201G
Domain | Start | End | E-Value | Type |
PYRIN
|
6 |
88 |
1.44e-26 |
SMART |
Pfam:NACHT
|
147 |
316 |
3.4e-39 |
PFAM |
LRR
|
632 |
659 |
1.18e1 |
SMART |
LRR
|
686 |
713 |
4.22e1 |
SMART |
LRR
|
715 |
742 |
5.66e1 |
SMART |
LRR
|
743 |
769 |
4.03e0 |
SMART |
LRR
|
771 |
798 |
1.17e0 |
SMART |
LRR
|
799 |
826 |
1.43e-1 |
SMART |
LRR
|
828 |
855 |
1.03e-2 |
SMART |
LRR
|
856 |
883 |
5.59e-4 |
SMART |
LRR
|
885 |
912 |
2.91e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220448
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221659
AA Change: E201G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222273
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222514
AA Change: E201G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222559
AA Change: E179G
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223418
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
A |
G |
5: 144,982,261 (GRCm39) |
E282G |
probably benign |
Het |
Abca12 |
T |
A |
1: 71,353,167 (GRCm39) |
K758N |
probably benign |
Het |
Acacb |
A |
T |
5: 114,363,915 (GRCm39) |
R1459* |
probably null |
Het |
Aco1 |
A |
G |
4: 40,186,363 (GRCm39) |
T592A |
probably benign |
Het |
Aldh2 |
C |
T |
5: 121,713,188 (GRCm39) |
G256D |
probably benign |
Het |
Apbb2 |
A |
T |
5: 66,469,500 (GRCm39) |
|
probably null |
Het |
Apoe |
A |
T |
7: 19,430,462 (GRCm39) |
I260K |
probably benign |
Het |
Cep89 |
G |
A |
7: 35,124,078 (GRCm39) |
|
probably benign |
Het |
Coq3 |
A |
G |
4: 21,900,361 (GRCm39) |
D196G |
probably benign |
Het |
Crispld2 |
C |
T |
8: 120,742,110 (GRCm39) |
R153W |
probably damaging |
Het |
Enox1 |
A |
G |
14: 77,852,925 (GRCm39) |
E397G |
probably damaging |
Het |
Gpatch1 |
A |
G |
7: 34,998,705 (GRCm39) |
Y342H |
probably damaging |
Het |
Gpatch1 |
T |
A |
7: 34,993,120 (GRCm39) |
E575V |
possibly damaging |
Het |
Grid2 |
T |
C |
6: 64,406,806 (GRCm39) |
V722A |
possibly damaging |
Het |
Hsh2d |
T |
C |
8: 72,947,356 (GRCm39) |
F18L |
probably damaging |
Het |
Htra2 |
C |
T |
6: 83,030,737 (GRCm39) |
D190N |
probably damaging |
Het |
Lrfn2 |
A |
G |
17: 49,377,915 (GRCm39) |
N332S |
probably damaging |
Het |
Naa10 |
C |
T |
X: 72,963,568 (GRCm39) |
|
probably null |
Het |
Or13p10 |
T |
A |
4: 118,523,069 (GRCm39) |
F118L |
probably benign |
Het |
Or14j1 |
G |
A |
17: 38,146,165 (GRCm39) |
G92S |
probably benign |
Het |
Or4c111 |
A |
T |
2: 88,843,903 (GRCm39) |
C168* |
probably null |
Het |
Prss46 |
T |
A |
9: 110,678,747 (GRCm39) |
N46K |
probably benign |
Het |
Rep15 |
A |
C |
6: 146,934,163 (GRCm39) |
M1L |
possibly damaging |
Het |
Slc10a4 |
G |
T |
5: 73,169,286 (GRCm39) |
A105S |
probably damaging |
Het |
Slc26a9 |
A |
T |
1: 131,691,748 (GRCm39) |
T664S |
probably damaging |
Het |
Stxbp3-ps |
A |
T |
19: 9,535,714 (GRCm39) |
|
noncoding transcript |
Het |
Tmf1 |
C |
A |
6: 97,140,614 (GRCm39) |
R754L |
probably damaging |
Het |
Xcr1 |
T |
A |
9: 123,685,549 (GRCm39) |
Y71F |
probably benign |
Het |
Yars1 |
C |
T |
4: 129,104,328 (GRCm39) |
T324I |
probably benign |
Het |
Zfp106 |
A |
G |
2: 120,365,868 (GRCm39) |
S180P |
probably benign |
Het |
|
Other mutations in Nlrp4f |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01608:Nlrp4f
|
APN |
13 |
65,343,357 (GRCm39) |
nonsense |
probably null |
|
IGL01676:Nlrp4f
|
APN |
13 |
65,342,933 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01701:Nlrp4f
|
APN |
13 |
65,347,223 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01799:Nlrp4f
|
APN |
13 |
65,335,276 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02084:Nlrp4f
|
APN |
13 |
65,341,985 (GRCm39) |
nonsense |
probably null |
|
IGL02234:Nlrp4f
|
APN |
13 |
65,342,302 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02481:Nlrp4f
|
APN |
13 |
65,342,548 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02483:Nlrp4f
|
APN |
13 |
65,342,548 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02625:Nlrp4f
|
APN |
13 |
65,347,085 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02814:Nlrp4f
|
APN |
13 |
65,332,856 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03077:Nlrp4f
|
APN |
13 |
65,342,412 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03111:Nlrp4f
|
APN |
13 |
65,330,816 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03175:Nlrp4f
|
APN |
13 |
65,342,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R0398:Nlrp4f
|
UTSW |
13 |
65,342,732 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0477:Nlrp4f
|
UTSW |
13 |
65,338,720 (GRCm39) |
missense |
probably benign |
0.01 |
R0707:Nlrp4f
|
UTSW |
13 |
65,342,317 (GRCm39) |
missense |
probably benign |
0.42 |
R1052:Nlrp4f
|
UTSW |
13 |
65,332,897 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1302:Nlrp4f
|
UTSW |
13 |
65,342,371 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1460:Nlrp4f
|
UTSW |
13 |
65,338,082 (GRCm39) |
missense |
probably benign |
0.23 |
R1970:Nlrp4f
|
UTSW |
13 |
65,341,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R2111:Nlrp4f
|
UTSW |
13 |
65,347,167 (GRCm39) |
missense |
probably benign |
0.11 |
R2272:Nlrp4f
|
UTSW |
13 |
65,342,222 (GRCm39) |
missense |
probably benign |
0.01 |
R2370:Nlrp4f
|
UTSW |
13 |
65,338,660 (GRCm39) |
missense |
probably damaging |
0.99 |
R2680:Nlrp4f
|
UTSW |
13 |
65,342,157 (GRCm39) |
nonsense |
probably null |
|
R3120:Nlrp4f
|
UTSW |
13 |
65,342,530 (GRCm39) |
missense |
probably benign |
0.13 |
R3737:Nlrp4f
|
UTSW |
13 |
65,341,821 (GRCm39) |
missense |
probably benign |
0.01 |
R4035:Nlrp4f
|
UTSW |
13 |
65,341,821 (GRCm39) |
missense |
probably benign |
0.01 |
R4107:Nlrp4f
|
UTSW |
13 |
65,330,879 (GRCm39) |
missense |
probably benign |
0.01 |
R4422:Nlrp4f
|
UTSW |
13 |
65,332,776 (GRCm39) |
critical splice donor site |
probably null |
|
R4718:Nlrp4f
|
UTSW |
13 |
65,342,803 (GRCm39) |
missense |
probably benign |
0.01 |
R5652:Nlrp4f
|
UTSW |
13 |
65,330,803 (GRCm39) |
missense |
probably benign |
0.00 |
R5656:Nlrp4f
|
UTSW |
13 |
65,338,685 (GRCm39) |
nonsense |
probably null |
|
R5912:Nlrp4f
|
UTSW |
13 |
65,342,722 (GRCm39) |
missense |
probably damaging |
0.99 |
R5915:Nlrp4f
|
UTSW |
13 |
65,335,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R5955:Nlrp4f
|
UTSW |
13 |
65,342,895 (GRCm39) |
missense |
probably benign |
0.15 |
R6683:Nlrp4f
|
UTSW |
13 |
65,347,009 (GRCm39) |
missense |
probably benign |
0.01 |
R6742:Nlrp4f
|
UTSW |
13 |
65,335,254 (GRCm39) |
critical splice donor site |
probably null |
|
R6750:Nlrp4f
|
UTSW |
13 |
65,329,468 (GRCm39) |
nonsense |
probably null |
|
R6751:Nlrp4f
|
UTSW |
13 |
65,342,243 (GRCm39) |
missense |
probably damaging |
0.99 |
R7110:Nlrp4f
|
UTSW |
13 |
65,347,160 (GRCm39) |
missense |
probably damaging |
0.96 |
R7143:Nlrp4f
|
UTSW |
13 |
65,347,166 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7143:Nlrp4f
|
UTSW |
13 |
65,343,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R7187:Nlrp4f
|
UTSW |
13 |
65,343,201 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7230:Nlrp4f
|
UTSW |
13 |
65,342,715 (GRCm39) |
missense |
probably benign |
0.16 |
R7283:Nlrp4f
|
UTSW |
13 |
65,343,352 (GRCm39) |
nonsense |
probably null |
|
R7501:Nlrp4f
|
UTSW |
13 |
65,342,143 (GRCm39) |
missense |
probably damaging |
0.99 |
R7863:Nlrp4f
|
UTSW |
13 |
65,342,059 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7889:Nlrp4f
|
UTSW |
13 |
65,342,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R8472:Nlrp4f
|
UTSW |
13 |
65,342,145 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8553:Nlrp4f
|
UTSW |
13 |
65,343,252 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8972:Nlrp4f
|
UTSW |
13 |
65,330,749 (GRCm39) |
missense |
probably benign |
0.13 |
R9133:Nlrp4f
|
UTSW |
13 |
65,332,883 (GRCm39) |
nonsense |
probably null |
|
R9224:Nlrp4f
|
UTSW |
13 |
65,332,829 (GRCm39) |
nonsense |
probably null |
|
R9460:Nlrp4f
|
UTSW |
13 |
65,342,006 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9562:Nlrp4f
|
UTSW |
13 |
65,347,053 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Nlrp4f
|
UTSW |
13 |
65,342,116 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Nlrp4f
|
UTSW |
13 |
65,342,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |