Incidental Mutation 'IGL01676:Nlrp4f'
ID 103631
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 # IGL01676
Quality Score
Status
Chromosome 13
Chromosomal Location 65324925-65353530 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65342933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 237 (D237E)
Ref Sequence ENSEMBL: ENSMUSP00000152151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037372] [ENSMUST00000220448] [ENSMUST00000221659] [ENSMUST00000222273] [ENSMUST00000222514] [ENSMUST00000222559] [ENSMUST00000223418]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000037372
AA Change: D237E

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000041908
Gene: ENSMUSG00000032999
AA Change: D237E

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 possibly damaging
Transcript: ENSMUST00000221659
AA Change: D237E

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000222273
Predicted Effect probably benign
Transcript: ENSMUST00000222514
AA Change: D237E

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000222559
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
Acsm4 A T 7: 119,307,866 (GRCm39) R334S probably benign Het
Adamts3 A T 5: 89,825,613 (GRCm39) F1075L probably benign Het
Adamts3 A G 5: 90,029,402 (GRCm39) V30A possibly damaging Het
Bpifb5 A G 2: 154,070,969 (GRCm39) N223D possibly damaging Het
Cacna1e T C 1: 154,274,222 (GRCm39) R2228G probably damaging Het
Cacna1e T C 1: 154,288,196 (GRCm39) E1894G probably damaging Het
Calr4 A G 4: 109,101,447 (GRCm39) K110E probably damaging Het
Catsperz G T 19: 6,902,421 (GRCm39) Y24* probably null Het
Clec9a T G 6: 129,398,118 (GRCm39) S219A probably benign Het
Csrnp3 T A 2: 65,779,336 (GRCm39) I16N probably damaging Het
Ddx19a A G 8: 111,707,621 (GRCm39) probably null Het
Diaph1 G A 18: 37,989,241 (GRCm39) Q905* probably null Het
Dnah10 T C 5: 124,880,392 (GRCm39) M2743T possibly damaging Het
Ears2 A T 7: 121,643,781 (GRCm39) D392E probably benign Het
Fsip1 T C 2: 118,070,865 (GRCm39) probably benign Het
Ighv1-74 T C 12: 115,766,323 (GRCm39) Y98C possibly damaging Het
Igsf10 T C 3: 59,233,432 (GRCm39) K1767R probably benign Het
Igsf10 C T 3: 59,236,756 (GRCm39) A1142T probably benign Het
Lpar6 A G 14: 73,477,010 (GRCm39) N324D probably benign Het
Lrit1 T A 14: 36,779,394 (GRCm39) L109Q probably damaging Het
Oas1h G T 5: 121,009,897 (GRCm39) G324V probably damaging Het
Pak1 T G 7: 97,532,738 (GRCm39) D179E probably benign Het
Prop1 T A 11: 50,842,956 (GRCm39) Q77L probably damaging Het
Scn10a A T 9: 119,501,231 (GRCm39) Y184* probably null Het
Sdk1 T C 5: 142,113,591 (GRCm39) F1546S probably damaging Het
Trim67 A T 8: 125,541,899 (GRCm39) I366F possibly damaging Het
Vmn2r94 T G 17: 18,477,272 (GRCm39) M380L probably benign Het
Vmn2r-ps158 A G 7: 42,674,133 (GRCm39) N397S probably damaging Het
Zfand3 T G 17: 30,354,337 (GRCm39) S51R possibly damaging Het
Zfp36l3 T C X: 52,777,624 (GRCm39) S197G probably benign Het
Other mutations in Nlrp4f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01608:Nlrp4f APN 13 65,343,357 (GRCm39) nonsense probably null
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
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 2014-01-21