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) question?
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

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 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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