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) question?
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

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: 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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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