Incidental Mutation 'IGL01799:Nlrp4f'
ID155448
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nlrp4f
Ensembl Gene ENSMUSG00000032999
Gene NameNLR family, pyrin domain containing 4F
SynonymsNalp-kappa, Nalp4f, C330026N02Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL01799
Quality Score
Status
Chromosome13
Chromosomal Location65177111-65205977 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 65187462 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 771 (H771R)
Ref Sequence ENSEMBL: ENSMUSP00000152151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037372] [ENSMUST00000220448] [ENSMUST00000221659] [ENSMUST00000222514]
Predicted Effect probably benign
Transcript: ENSMUST00000037372
AA Change: H771R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000041908
Gene: ENSMUSG00000032999
AA Change: H771R

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
AA Change: H63R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000221659
AA Change: H771R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000222514
AA Change: H771R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 T A 13: 4,514,258 probably null Het
Anp32a A G 9: 62,371,810 T35A probably benign Het
Dennd1a A G 2: 38,048,742 Y119H probably damaging Het
Evc T C 5: 37,324,914 I32V possibly damaging Het
Fbll1 A C 11: 35,798,109 V109G possibly damaging Het
Gli3 T C 13: 15,726,161 S1378P probably benign Het
Gm7257 T C 9: 36,432,883 L54P possibly damaging Het
Hcfc2 G A 10: 82,700,991 C79Y probably damaging Het
Hdac5 A T 11: 102,200,085 I741N possibly damaging Het
Heatr5a T C 12: 51,897,835 D1289G probably benign Het
Hyal5 T A 6: 24,891,337 N383K probably benign Het
Itsn1 T C 16: 91,848,882 L59P probably damaging Het
Lrrc8b T A 5: 105,485,891 L743Q probably benign Het
Minos1 G T 4: 139,103,997 probably benign Het
Mks1 A T 11: 87,856,863 I191F probably benign Het
Mrc1 T A 2: 14,238,376 N104K probably damaging Het
Ms4a6d A T 19: 11,590,135 I26N probably damaging Het
Mup17 T C 4: 61,593,711 T109A probably benign Het
Mylk4 T G 13: 32,781,691 E9A probably benign Het
Myo7b C T 18: 31,962,770 V1812M probably damaging Het
Nbas T C 12: 13,324,400 probably benign Het
Ncoa2 T C 1: 13,152,375 probably benign Het
Olfr1012 T A 2: 85,759,642 I245F probably benign Het
Opa1 T C 16: 29,616,658 V642A possibly damaging Het
Pi4ka C A 16: 17,389,371 L23F probably damaging Het
Rerg T A 6: 137,056,378 K100* probably null Het
Sema6c T C 3: 95,170,831 V506A probably damaging Het
Slc15a1 T G 14: 121,480,729 N246T possibly damaging Het
Sorcs1 A G 19: 50,230,209 probably null Het
Vmn2r118 A G 17: 55,592,990 L638P probably damaging Het
Vmn2r80 G A 10: 79,171,551 G454S possibly damaging Het
Other mutations in Nlrp4f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01608:Nlrp4f APN 13 65195543 nonsense probably null
IGL01676:Nlrp4f APN 13 65195119 missense possibly damaging 0.95
IGL01701:Nlrp4f APN 13 65199409 missense probably damaging 1.00
IGL02084:Nlrp4f APN 13 65194171 nonsense probably null
IGL02234:Nlrp4f APN 13 65194488 missense probably damaging 1.00
IGL02481:Nlrp4f APN 13 65194734 missense probably benign 0.04
IGL02483:Nlrp4f APN 13 65194734 missense probably benign 0.04
IGL02625:Nlrp4f APN 13 65199271 missense probably damaging 1.00
IGL02814:Nlrp4f APN 13 65185042 missense probably damaging 0.98
IGL03077:Nlrp4f APN 13 65194598 missense probably benign 0.10
IGL03111:Nlrp4f APN 13 65183002 missense probably damaging 1.00
IGL03175:Nlrp4f APN 13 65194596 missense probably damaging 1.00
IGL03324:Nlrp4f APN 13 65195228 missense possibly damaging 0.91
R0398:Nlrp4f UTSW 13 65194918 missense possibly damaging 0.79
R0477:Nlrp4f UTSW 13 65190906 missense probably benign 0.01
R0707:Nlrp4f UTSW 13 65194503 missense probably benign 0.42
R1052:Nlrp4f UTSW 13 65185083 missense possibly damaging 0.73
R1302:Nlrp4f UTSW 13 65194557 missense possibly damaging 0.77
R1460:Nlrp4f UTSW 13 65190268 missense probably benign 0.23
R1970:Nlrp4f UTSW 13 65194091 missense probably damaging 1.00
R2111:Nlrp4f UTSW 13 65199353 missense probably benign 0.11
R2272:Nlrp4f UTSW 13 65194408 missense probably benign 0.01
R2370:Nlrp4f UTSW 13 65190846 missense probably damaging 0.99
R2680:Nlrp4f UTSW 13 65194343 nonsense probably null
R3120:Nlrp4f UTSW 13 65194716 missense probably benign 0.13
R3737:Nlrp4f UTSW 13 65194007 missense probably benign 0.01
R4035:Nlrp4f UTSW 13 65194007 missense probably benign 0.01
R4107:Nlrp4f UTSW 13 65183065 missense probably benign 0.01
R4422:Nlrp4f UTSW 13 65184962 critical splice donor site probably null
R4718:Nlrp4f UTSW 13 65194989 missense probably benign 0.01
R5652:Nlrp4f UTSW 13 65182989 missense probably benign 0.00
R5656:Nlrp4f UTSW 13 65190871 nonsense probably null
R5912:Nlrp4f UTSW 13 65194908 missense probably damaging 0.99
R5915:Nlrp4f UTSW 13 65187555 missense probably damaging 1.00
R5955:Nlrp4f UTSW 13 65195081 missense probably benign 0.15
R6683:Nlrp4f UTSW 13 65199195 missense probably benign 0.01
R6742:Nlrp4f UTSW 13 65187440 critical splice donor site probably null
R6750:Nlrp4f UTSW 13 65181654 nonsense probably null
R6751:Nlrp4f UTSW 13 65194429 missense probably damaging 0.99
R7110:Nlrp4f UTSW 13 65199346 missense probably damaging 0.96
R7143:Nlrp4f UTSW 13 65195306 missense probably damaging 1.00
R7143:Nlrp4f UTSW 13 65199352 missense possibly damaging 0.90
R7187:Nlrp4f UTSW 13 65195387 missense possibly damaging 0.47
R7230:Nlrp4f UTSW 13 65194901 missense probably benign 0.16
R7283:Nlrp4f UTSW 13 65195538 nonsense probably null
R7501:Nlrp4f UTSW 13 65194329 missense probably damaging 0.99
Z1088:Nlrp4f UTSW 13 65194302 missense probably benign 0.00
Posted On2014-02-04