Incidental Mutation 'IGL02814:Nlrp4f'
ID |
360699 |
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 # |
IGL02814
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
65324925-65353530 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65332856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 809
(S809P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152151
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037372]
[ENSMUST00000220448]
[ENSMUST00000221280]
[ENSMUST00000221659]
[ENSMUST00000222514]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037372
AA Change: S809P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000041908 Gene: ENSMUSG00000032999 AA Change: S809P
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 damaging
Transcript: ENSMUST00000220448
AA Change: S101P
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221280
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000221659
AA Change: S809P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222514
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
T |
11: 110,045,293 (GRCm39) |
F347I |
possibly damaging |
Het |
Adcy5 |
A |
G |
16: 35,124,019 (GRCm39) |
T1233A |
probably benign |
Het |
Blnk |
C |
T |
19: 40,950,873 (GRCm39) |
D93N |
probably damaging |
Het |
Cadps2 |
T |
C |
6: 23,321,706 (GRCm39) |
E1083G |
probably damaging |
Het |
Capn8 |
C |
A |
1: 182,426,336 (GRCm39) |
L224M |
probably damaging |
Het |
Cdh4 |
A |
T |
2: 179,422,267 (GRCm39) |
E130D |
probably benign |
Het |
Cgn |
G |
A |
3: 94,681,550 (GRCm39) |
T515M |
probably benign |
Het |
Chrna10 |
C |
T |
7: 101,761,469 (GRCm39) |
G374D |
probably benign |
Het |
Chrnb1 |
T |
A |
11: 69,686,506 (GRCm39) |
Y38F |
probably damaging |
Het |
Cyld |
A |
G |
8: 89,471,525 (GRCm39) |
D621G |
probably benign |
Het |
Cyp4f37 |
T |
C |
17: 32,853,645 (GRCm39) |
F443S |
probably benign |
Het |
Dctn1 |
C |
A |
6: 83,166,896 (GRCm39) |
A152E |
probably damaging |
Het |
Eml4 |
T |
A |
17: 83,748,791 (GRCm39) |
Y228* |
probably null |
Het |
Fbln2 |
T |
A |
6: 91,242,839 (GRCm39) |
C846* |
probably null |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Gart |
T |
C |
16: 91,420,345 (GRCm39) |
S833G |
possibly damaging |
Het |
Gda |
T |
C |
19: 21,405,839 (GRCm39) |
|
probably null |
Het |
Gjb5 |
C |
T |
4: 127,249,355 (GRCm39) |
R263Q |
probably benign |
Het |
Gtf2i |
T |
C |
5: 134,315,558 (GRCm39) |
K193E |
probably damaging |
Het |
H4c14 |
C |
A |
3: 96,170,603 (GRCm39) |
K6N |
probably benign |
Het |
Ints1 |
C |
T |
5: 139,758,146 (GRCm39) |
E244K |
possibly damaging |
Het |
Kat14 |
G |
A |
2: 144,244,383 (GRCm39) |
S412N |
probably benign |
Het |
Kcnn3 |
A |
T |
3: 89,428,482 (GRCm39) |
H236L |
possibly damaging |
Het |
Kif15 |
T |
A |
9: 122,832,705 (GRCm39) |
I1005K |
possibly damaging |
Het |
Klrc1 |
T |
C |
6: 129,655,855 (GRCm39) |
T7A |
possibly damaging |
Het |
Lcp2 |
T |
C |
11: 34,021,033 (GRCm39) |
S130P |
probably damaging |
Het |
Ldha |
T |
A |
7: 46,500,315 (GRCm39) |
Y133* |
probably null |
Het |
Lrp2 |
A |
G |
2: 69,337,080 (GRCm39) |
C1231R |
probably damaging |
Het |
Lrrn1 |
T |
A |
6: 107,544,313 (GRCm39) |
V37D |
probably damaging |
Het |
Mep1a |
T |
A |
17: 43,788,112 (GRCm39) |
H648L |
probably benign |
Het |
Mmp25 |
C |
T |
17: 23,858,736 (GRCm39) |
G272R |
probably damaging |
Het |
Myh15 |
A |
G |
16: 48,965,801 (GRCm39) |
|
probably benign |
Het |
Myl3 |
G |
T |
9: 110,597,059 (GRCm39) |
E140* |
probably null |
Het |
Nrde2 |
T |
C |
12: 100,110,394 (GRCm39) |
I207M |
probably null |
Het |
Or13a26 |
T |
C |
7: 140,285,046 (GRCm39) |
L294P |
probably damaging |
Het |
Or2y8 |
C |
T |
11: 52,035,637 (GRCm39) |
C240Y |
probably damaging |
Het |
Or5p54 |
T |
C |
7: 107,553,977 (GRCm39) |
I43T |
probably benign |
Het |
Paics |
T |
G |
5: 77,110,320 (GRCm39) |
V245G |
probably damaging |
Het |
Pank1 |
A |
G |
19: 34,818,255 (GRCm39) |
F95L |
probably damaging |
Het |
Pde4dip |
A |
C |
3: 97,674,416 (GRCm39) |
C167G |
probably damaging |
Het |
Picalm |
C |
A |
7: 89,840,957 (GRCm39) |
T542K |
possibly damaging |
Het |
Piezo1 |
A |
G |
8: 123,224,954 (GRCm39) |
Y651H |
probably damaging |
Het |
Pikfyve |
T |
A |
1: 65,289,353 (GRCm39) |
C1208* |
probably null |
Het |
Pkd1l1 |
T |
A |
11: 8,852,582 (GRCm39) |
T634S |
probably benign |
Het |
Rab32 |
T |
C |
10: 10,422,171 (GRCm39) |
T183A |
probably benign |
Het |
Rad18 |
T |
C |
6: 112,621,583 (GRCm39) |
I206V |
possibly damaging |
Het |
Rbm15b |
T |
C |
9: 106,762,975 (GRCm39) |
I398V |
probably benign |
Het |
Rbm28 |
T |
C |
6: 29,159,725 (GRCm39) |
E101G |
probably benign |
Het |
Rsf1 |
T |
C |
7: 97,310,434 (GRCm39) |
L388P |
probably damaging |
Het |
Scnn1g |
A |
G |
7: 121,339,588 (GRCm39) |
Y129C |
probably damaging |
Het |
Slc7a13 |
G |
A |
4: 19,839,387 (GRCm39) |
C330Y |
probably benign |
Het |
Spock1 |
A |
T |
13: 57,735,486 (GRCm39) |
V101E |
probably damaging |
Het |
Sympk |
T |
A |
7: 18,787,198 (GRCm39) |
W1029R |
probably damaging |
Het |
Syne2 |
T |
A |
12: 75,992,150 (GRCm39) |
H2008Q |
possibly damaging |
Het |
Tgs1 |
T |
A |
4: 3,585,719 (GRCm39) |
Y199N |
probably damaging |
Het |
Trim10 |
T |
A |
17: 37,188,228 (GRCm39) |
C481* |
probably null |
Het |
Vmn2r102 |
A |
G |
17: 19,898,170 (GRCm39) |
E395G |
probably damaging |
Het |
Wfs1 |
A |
C |
5: 37,125,013 (GRCm39) |
V626G |
possibly damaging |
Het |
Zfp689 |
A |
G |
7: 127,044,193 (GRCm39) |
S146P |
possibly damaging |
Het |
Zfp786 |
T |
C |
6: 47,796,775 (GRCm39) |
H721R |
probably damaging |
Het |
Zfta |
C |
A |
19: 7,397,787 (GRCm39) |
N111K |
possibly damaging |
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 |
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 |
IGL03324:Nlrp4f
|
APN |
13 |
65,343,042 (GRCm39) |
missense |
possibly damaging |
0.91 |
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 |
2015-12-18 |