Incidental Mutation 'IGL02625:Nlrp4f'
ID 301023
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) question?
Stock # IGL02625
Quality Score
Status
Chromosome 13
Chromosomal Location 65324925-65353530 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 65347085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 58 (L58F)
Ref Sequence ENSEMBL: ENSMUSP00000152297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037372] [ENSMUST00000221659] [ENSMUST00000222273] [ENSMUST00000222514] [ENSMUST00000222559] [ENSMUST00000223418]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000037372
AA Change: L58F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041908
Gene: ENSMUSG00000032999
AA Change: L58F

DomainStartEndE-ValueType
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: ENSMUST00000221659
AA Change: L58F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222273
AA Change: L58F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222514
AA Change: L58F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000222559
AA Change: L36F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000223418
AA Change: L58F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg6 T A 4: 99,634,584 (GRCm39) C109S probably damaging Het
Arhgdia C A 11: 120,471,039 (GRCm39) E53D probably benign Het
Ccr4 A C 9: 114,321,401 (GRCm39) C221W probably damaging Het
Ces2a G A 8: 105,466,910 (GRCm39) probably null Het
Chpf2 G T 5: 24,796,709 (GRCm39) E552* probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnmt1 C T 9: 20,838,442 (GRCm39) R207H probably benign Het
Dock2 A G 11: 34,451,168 (GRCm39) probably null Het
Esr1 A T 10: 4,951,346 (GRCm39) T575S probably benign Het
Fancc A G 13: 63,545,965 (GRCm39) C93R probably damaging Het
Foxj3 A T 4: 119,482,114 (GRCm39) R523W unknown Het
Fryl C T 5: 73,227,220 (GRCm39) probably benign Het
Fsip2 A C 2: 82,779,836 (GRCm39) H194P probably benign Het
Gaa G A 11: 119,165,559 (GRCm39) V350I probably damaging Het
Gpn3 T A 5: 122,519,257 (GRCm39) I152N probably damaging Het
H2-M10.3 T A 17: 36,678,417 (GRCm39) H136L probably benign Het
H4c16 C T 6: 136,781,335 (GRCm39) probably benign Het
Hspg2 A G 4: 137,239,953 (GRCm39) D507G probably damaging Het
Jcad A G 18: 4,674,422 (GRCm39) E728G probably benign Het
Kat14 G A 2: 144,244,365 (GRCm39) R406H possibly damaging Het
Kcnma1 G T 14: 23,413,900 (GRCm39) D863E probably damaging Het
Lrp1 A G 10: 127,410,355 (GRCm39) Y1464H probably damaging Het
Map4 T C 9: 109,893,485 (GRCm39) S584P probably damaging Het
Nlrp6 A G 7: 140,503,413 (GRCm39) I506M probably benign Het
Nudt17 G A 3: 96,613,780 (GRCm39) R266W probably damaging Het
Or4a47 A G 2: 89,665,740 (GRCm39) L183P probably damaging Het
Or4a69 A G 2: 89,313,018 (GRCm39) S154P probably damaging Het
Or52h9 A G 7: 104,202,780 (GRCm39) Y218C probably damaging Het
Plcb4 A G 2: 135,803,714 (GRCm39) E529G probably benign Het
Prss32 A T 17: 24,075,210 (GRCm39) I187F possibly damaging Het
Prss55 A T 14: 64,316,818 (GRCm39) I108K probably damaging Het
Rcl1 A G 19: 29,095,741 (GRCm39) M109V probably benign Het
Rho A T 6: 115,912,158 (GRCm39) M207L possibly damaging Het
Slc12a1 A G 2: 125,012,611 (GRCm39) D291G probably damaging Het
Slco2b1 A C 7: 99,309,330 (GRCm39) probably null Het
Stx11 T A 10: 12,817,661 (GRCm39) D21V possibly damaging Het
Svep1 T A 4: 58,115,807 (GRCm39) Y962F possibly damaging Het
Tbx5 G T 5: 119,974,972 (GRCm39) probably benign Het
Tcf12 C A 9: 71,830,039 (GRCm39) G141W probably damaging Het
Tmtc2 A G 10: 105,206,407 (GRCm39) M296T probably damaging Het
Trim13 T A 14: 61,842,999 (GRCm39) S339T probably benign Het
Ugt1a7c A G 1: 88,023,239 (GRCm39) K133E possibly damaging Het
Usp40 A G 1: 87,877,739 (GRCm39) V1050A probably benign Het
Vmn2r86 T G 10: 130,288,781 (GRCm39) N240T probably damaging Het
Wdr36 T C 18: 32,992,314 (GRCm39) V617A possibly damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wdr6 T C 9: 108,452,704 (GRCm39) Y393C probably damaging Het
Zfp619 A T 7: 39,183,609 (GRCm39) probably benign Het
Other mutations in Nlrp4f
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 2015-04-16