Incidental Mutation 'F5493:Nlrp4d'
ID562
Institutional Source Beutler Lab
Gene Symbol Nlrp4d
Ensembl Gene ENSMUSG00000034122
Gene NameNLR family, pyrin domain containing 4D
SynonymsNalp4d, Nalp-beta
Accession Numbers

Genbank: XM_001481310; Ensembl: ENSMUST00000184509

 

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #F5493 (G1)
Quality Score
Status Validated
Chromosome7
Chromosomal Location10358862-10388935 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 10381084 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 568 (D568E)
Gene Model predicted gene model for transcript(s):
Predicted Effect possibly damaging
Transcript: ENSMUST00000086269
AA Change: D568E

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000083450
Gene: ENSMUSG00000034122
AA Change: D568E

DomainStartEndE-ValueType
PYRIN 6 89 2.6e-31 SMART
Pfam:NACHT 150 318 2.4e-34 PFAM
low complexity region 575 586 N/A INTRINSIC
LRR 674 701 1.3e-1 SMART
Blast:LRR 703 729 8e-7 BLAST
LRR 730 756 2.1e-2 SMART
LRR 758 785 2.1e-1 SMART
LRR 786 813 1.6e-5 SMART
LRR 814 837 3.5e-1 SMART
LRR 838 865 2.7e-6 SMART
LRR 867 894 7.2e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182420
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 76.6%
  • 3x: 51.4%
Het Detection Efficiency27.8%
Validation Efficiency 67% (74/111)
Allele List at MGI
Other mutations in this stock
Total: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cars T A 7: 143,569,871 T448S probably damaging Het
Cdca2 T A 14: 67,677,692 N706I probably damaging Het
Fat1 A G 8: 45,025,480 E2521G probably damaging Het
Fmo2 C A 1: 162,880,532 V345L probably benign Het
Frrs1l T C 4: 56,968,293 M160V probably benign Het
Nckap5 A T 1: 126,025,827 M996K probably benign Het
Pex1 T G 5: 3,635,912 probably null Het
Ptprd A G 4: 76,084,408 L17P probably damaging Het
Tnfsf13b T A 8: 10,006,916 V25E probably damaging Het
Zfp386 T C 12: 116,060,302 Y512H probably damaging Het
Other mutations in Nlrp4d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00981:Nlrp4d APN 7 10382094 exon noncoding transcript
IGL01076:Nlrp4d APN 7 10372083 missense unknown 0.00
IGL01656:Nlrp4d APN 7 10364147 missense noncoding transcript
IGL01889:Nlrp4d APN 7 10378334 missense unknown 0.00
IGL02110:Nlrp4d APN 7 10382564 exon noncoding transcript
IGL02271:Nlrp4d APN 7 10388698 exon noncoding transcript
IGL02637:Nlrp4d APN 7 10382555 exon noncoding transcript
snoop UTSW 7 10374891 missense probably benign 0.02
1mM(1):Nlrp4d UTSW 7 10381713 missense probably benign 0.09
IGL03048:Nlrp4d UTSW 7 10358954 unclassified noncoding transcript
R0116:Nlrp4d UTSW 7 10374891 missense probably benign 0.02
R0125:Nlrp4d UTSW 7 10382389 missense probably damaging 1.00
R0390:Nlrp4d UTSW 7 10388778 missense probably benign 0.04
R0452:Nlrp4d UTSW 7 10378292 missense probably benign 0.01
R0595:Nlrp4d UTSW 7 10381045 missense probably benign 0.00
R0729:Nlrp4d UTSW 7 10377685 critical splice donor site probably benign
R0733:Nlrp4d UTSW 7 10382522 missense probably benign 0.02
R1147:Nlrp4d UTSW 7 10388717 missense probably benign 0.00
R1217:Nlrp4d UTSW 7 10364267 missense probably benign 0.36
R1378:Nlrp4d UTSW 7 10364184 missense probably benign 0.23
R1414:Nlrp4d UTSW 7 10382601 missense probably benign 0.22
R1583:Nlrp4d UTSW 7 10382237 missense probably damaging 0.99
R1585:Nlrp4d UTSW 7 10382510 missense probably benign 0.02
R1882:Nlrp4d UTSW 7 10382677 critical splice acceptor site noncoding transcript
R2422:Nlrp4d UTSW 7 10362945 missense probably benign 0.29
R2907:Nlrp4d UTSW 7 10378427 missense probably benign 0.00
R2964:Nlrp4d UTSW 7 10378329 nonsense probably null
R2974:Nlrp4d UTSW 7 10378440 critical splice acceptor site probably benign
R3401:Nlrp4d UTSW 7 10362854 missense probably damaging 1.00
R3402:Nlrp4d UTSW 7 10362854 missense probably damaging 1.00
R4240:Nlrp4d UTSW 7 10381316 missense noncoding transcript
R4682:Nlrp4d UTSW 7 10374952 missense noncoding transcript
R4766:Nlrp4d UTSW 7 10362779 critical splice donor site unknown
R4864:Nlrp4d UTSW 7 10381161 missense noncoding transcript
R4910:Nlrp4d UTSW 7 10378409 exon noncoding transcript
R5307:Nlrp4d UTSW 7 10362782 nonsense probably null
R5596:Nlrp4d UTSW 7 10382024 missense noncoding transcript
R5857:Nlrp4d UTSW 7 10382377 missense noncoding transcript
Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to A transversion at position 1752 of the Nlrp4d transcript.  The mutated nucleotide causes an isoleucine to lysine substitution at amino acid 586 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (see related file ).

Protein Function and Prediction

The Nlrp4d gene encodes a encodes a 985 amino acid protein that is a member of the nucleotide-binding and oligomerization domain (NOD)-like receptor (NLR) family. The NLRP subfamily contains an N-terminal pyrin domain (PYD), a central NACHT or nucleotide-binding domain (NBD), and a C-terminal domain containing several leucine-rich repeats (LRRs). The numbers of LRRs can be variable in these proteins. SMART analysis shows the PYD domain occurring at residues 6-89, the NACHT domain located at residues 151-318 and seven LRRs.

 

The I586K change occurs prior to the LRR repeats, and is predicted to be probably damaging by the PolyPhen program.

Posted On2010-11-29