Incidental Mutation 'R0477:Nlrp4f'
ID |
41871 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp4f
|
Ensembl Gene |
ENSMUSG00000032999 |
Gene Name |
NLR family, pyrin domain containing 4F |
Synonyms |
Nalp4f, C330026N02Rik, Nalp-kappa |
MMRRC Submission |
038677-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R0477 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
13 |
Chromosomal Location |
65324925-65353530 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 65338720 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 639
(R639L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152418
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037372]
[ENSMUST00000220448]
[ENSMUST00000221659]
[ENSMUST00000222514]
[ENSMUST00000222559]
[ENSMUST00000223418]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037372
AA Change: R639L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000041908 Gene: ENSMUSG00000032999 AA Change: R639L
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: R639L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222514
AA Change: R639L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222559
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223418
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.1%
|
Validation Efficiency |
98% (57/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030468B19Rik |
A |
T |
11: 117,693,787 (GRCm39) |
I85F |
probably benign |
Het |
Abca8a |
T |
A |
11: 109,956,051 (GRCm39) |
I778L |
probably benign |
Het |
Abcc5 |
T |
C |
16: 20,187,319 (GRCm39) |
N889S |
possibly damaging |
Het |
Abcc5 |
T |
C |
16: 20,217,635 (GRCm39) |
N359D |
probably damaging |
Het |
Adam23 |
A |
G |
1: 63,596,559 (GRCm39) |
|
probably benign |
Het |
Adamts3 |
A |
T |
5: 89,832,366 (GRCm39) |
D913E |
probably benign |
Het |
Ap1b1 |
G |
T |
11: 4,981,787 (GRCm39) |
C538F |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,890,766 (GRCm39) |
S882T |
probably benign |
Het |
C9 |
A |
T |
15: 6,487,664 (GRCm39) |
E43D |
probably benign |
Het |
Cacna2d1 |
T |
C |
5: 16,399,796 (GRCm39) |
|
probably null |
Het |
Ces2a |
A |
G |
8: 105,464,169 (GRCm39) |
E267G |
probably damaging |
Het |
Cfap61 |
A |
G |
2: 145,781,836 (GRCm39) |
D23G |
probably damaging |
Het |
Col9a3 |
T |
G |
2: 180,251,263 (GRCm39) |
|
probably benign |
Het |
Cstl1 |
T |
C |
2: 148,592,908 (GRCm39) |
V21A |
probably benign |
Het |
Cth |
A |
T |
3: 157,610,812 (GRCm39) |
L340Q |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,974,054 (GRCm39) |
M2813K |
probably damaging |
Het |
Fam107a |
A |
T |
14: 8,301,168 (GRCm38) |
Y21N |
probably benign |
Het |
Fam184a |
G |
A |
10: 53,531,175 (GRCm39) |
T733M |
probably damaging |
Het |
Fer1l4 |
A |
G |
2: 155,894,806 (GRCm39) |
V21A |
probably benign |
Het |
Foxc2 |
A |
T |
8: 121,844,774 (GRCm39) |
Y474F |
probably damaging |
Het |
Hnf4g |
G |
T |
3: 3,716,851 (GRCm39) |
|
probably benign |
Het |
Hnrnpll |
T |
C |
17: 80,369,261 (GRCm39) |
D54G |
unknown |
Het |
Hydin |
A |
G |
8: 111,145,130 (GRCm39) |
Y827C |
probably damaging |
Het |
Il23r |
A |
G |
6: 67,429,361 (GRCm39) |
V327A |
probably benign |
Het |
Itih4 |
T |
A |
14: 30,611,631 (GRCm39) |
V118D |
probably damaging |
Het |
Kmt2d |
G |
A |
15: 98,751,462 (GRCm39) |
|
probably benign |
Het |
Lamb1 |
A |
G |
12: 31,376,268 (GRCm39) |
D1546G |
possibly damaging |
Het |
Large1 |
A |
T |
8: 73,544,710 (GRCm39) |
D689E |
probably damaging |
Het |
Map1a |
T |
C |
2: 121,132,582 (GRCm39) |
S895P |
probably damaging |
Het |
Mdn1 |
A |
C |
4: 32,750,928 (GRCm39) |
E4487A |
probably benign |
Het |
Myo15a |
T |
C |
11: 60,411,740 (GRCm39) |
|
probably null |
Het |
Or4f52 |
A |
G |
2: 111,062,009 (GRCm39) |
F43S |
probably benign |
Het |
Or8h10 |
T |
A |
2: 86,808,567 (GRCm39) |
D191V |
probably damaging |
Het |
Pcdh9 |
T |
C |
14: 94,125,114 (GRCm39) |
N229S |
probably damaging |
Het |
Pcnx2 |
A |
G |
8: 126,488,306 (GRCm39) |
V1746A |
probably damaging |
Het |
Phf12 |
A |
T |
11: 77,913,896 (GRCm39) |
H446L |
possibly damaging |
Het |
Phlpp2 |
A |
G |
8: 110,622,138 (GRCm39) |
|
probably null |
Het |
Psmb9 |
A |
C |
17: 34,401,238 (GRCm39) |
V207G |
probably damaging |
Het |
Ptprh |
C |
A |
7: 4,600,997 (GRCm39) |
D127Y |
possibly damaging |
Het |
Rabep1 |
T |
G |
11: 70,811,733 (GRCm39) |
M535R |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Scin |
T |
C |
12: 40,110,515 (GRCm39) |
D711G |
probably damaging |
Het |
Slfn4 |
T |
C |
11: 83,079,507 (GRCm39) |
I6T |
probably benign |
Het |
Sos1 |
T |
A |
17: 80,742,363 (GRCm39) |
E388V |
possibly damaging |
Het |
Spag5 |
A |
C |
11: 78,205,024 (GRCm39) |
Q603P |
probably damaging |
Het |
Supv3l1 |
G |
T |
10: 62,266,364 (GRCm39) |
T604N |
probably damaging |
Het |
Tbx5 |
A |
G |
5: 120,021,184 (GRCm39) |
S397G |
possibly damaging |
Het |
Tmprss5 |
A |
G |
9: 49,026,465 (GRCm39) |
D383G |
possibly damaging |
Het |
Trim43b |
A |
G |
9: 88,972,654 (GRCm39) |
W167R |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,609,160 (GRCm39) |
D1283V |
probably damaging |
Het |
Upf1 |
A |
T |
8: 70,786,730 (GRCm39) |
V918D |
probably benign |
Het |
Vmn2r100 |
A |
G |
17: 19,742,776 (GRCm39) |
I383M |
probably benign |
Het |
Zc3h3 |
G |
T |
15: 75,648,932 (GRCm39) |
S733R |
possibly damaging |
Het |
Zcchc2 |
C |
T |
1: 105,958,000 (GRCm39) |
P426S |
possibly damaging |
Het |
Zkscan7 |
A |
G |
9: 122,719,874 (GRCm39) |
|
probably null |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAGAAAGCAGAGCCCTGCACG -3'
(R):5'- GGTCACTACCCTTACTCAGTATGGGAG -3'
Sequencing Primer
(F):5'- cgtgctttcatcatcataaacttc -3'
(R):5'- tgctggaaactggccttg -3'
|
Posted On |
2013-05-23 |