Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01076:Nlrp4d'

51703

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp4d

Ensembl Gene

ENSMUSG00000034122

Gene Name

NLR family, pyrin domain containing 4D

Synonyms

Nalp-beta, Nalp4d

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01076

Quality Score

Status

Chromosome

Chromosomal Location

10092800-10122862 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10106010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 801 (D801E)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000086269
AA Change: D801E

PolyPhen 2 Score 0.000 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083450
Gene: ENSMUSG00000034122
AA Change: D801E

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184509
AA Change: M790K

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 2 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Klk1b8	T	C	7: 43,604,279 (GRCm39)	F249S	probably damaging	Het
Ldlrap1	T	C	4: 134,477,293 (GRCm39)	D197G	probably benign	Het

Other mutations in Nlrp4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Nlrp4d	APN	7	10,116,021 (GRCm39)	exon	noncoding transcript
IGL01656:Nlrp4d	APN	7	10,098,074 (GRCm39)	missense	noncoding transcript
IGL01889:Nlrp4d	APN	7	10,112,261 (GRCm39)	missense	unknown	0.00
IGL02110:Nlrp4d	APN	7	10,116,491 (GRCm39)	exon	noncoding transcript
IGL02271:Nlrp4d	APN	7	10,122,625 (GRCm39)	exon	noncoding transcript
IGL02637:Nlrp4d	APN	7	10,116,482 (GRCm39)	exon	noncoding transcript
snoop	UTSW	7	10,108,818 (GRCm39)	missense	probably benign	0.02
1mM(1):Nlrp4d	UTSW	7	10,115,640 (GRCm39)	missense	probably benign	0.09
F5493:Nlrp4d	UTSW	7	10,115,011 (GRCm39)	missense	possibly damaging	0.84
IGL03048:Nlrp4d	UTSW	7	10,092,881 (GRCm39)	unclassified	noncoding transcript
R0116:Nlrp4d	UTSW	7	10,108,818 (GRCm39)	missense	probably benign	0.02
R0125:Nlrp4d	UTSW	7	10,116,316 (GRCm39)	missense	probably damaging	1.00
R0390:Nlrp4d	UTSW	7	10,122,705 (GRCm39)	missense	probably benign	0.04
R0452:Nlrp4d	UTSW	7	10,112,219 (GRCm39)	missense	probably benign	0.01
R0595:Nlrp4d	UTSW	7	10,114,972 (GRCm39)	missense	probably benign	0.00
R0729:Nlrp4d	UTSW	7	10,111,612 (GRCm39)	critical splice donor site	probably benign
R0733:Nlrp4d	UTSW	7	10,116,449 (GRCm39)	missense	probably benign	0.02
R1147:Nlrp4d	UTSW	7	10,122,644 (GRCm39)	missense	probably benign	0.00
R1217:Nlrp4d	UTSW	7	10,098,194 (GRCm39)	missense	probably benign	0.36
R1378:Nlrp4d	UTSW	7	10,098,111 (GRCm39)	missense	probably benign	0.23
R1414:Nlrp4d	UTSW	7	10,116,528 (GRCm39)	missense	probably benign	0.22
R1583:Nlrp4d	UTSW	7	10,116,164 (GRCm39)	missense	probably damaging	0.99
R1585:Nlrp4d	UTSW	7	10,116,437 (GRCm39)	missense	probably benign	0.02
R1882:Nlrp4d	UTSW	7	10,116,604 (GRCm39)	critical splice acceptor site	noncoding transcript
R2422:Nlrp4d	UTSW	7	10,096,872 (GRCm39)	missense	probably benign	0.29
R2907:Nlrp4d	UTSW	7	10,112,354 (GRCm39)	missense	probably benign	0.00
R2964:Nlrp4d	UTSW	7	10,112,256 (GRCm39)	nonsense	probably null
R2974:Nlrp4d	UTSW	7	10,112,367 (GRCm39)	critical splice acceptor site	probably benign
R3401:Nlrp4d	UTSW	7	10,096,781 (GRCm39)	missense	probably damaging	1.00
R3402:Nlrp4d	UTSW	7	10,096,781 (GRCm39)	missense	probably damaging	1.00
R4240:Nlrp4d	UTSW	7	10,115,243 (GRCm39)	missense	noncoding transcript
R4682:Nlrp4d	UTSW	7	10,108,879 (GRCm39)	missense	noncoding transcript
R4766:Nlrp4d	UTSW	7	10,096,706 (GRCm39)	critical splice donor site	unknown
R4864:Nlrp4d	UTSW	7	10,115,088 (GRCm39)	missense	noncoding transcript
R4910:Nlrp4d	UTSW	7	10,112,336 (GRCm39)	exon	noncoding transcript
R5307:Nlrp4d	UTSW	7	10,096,709 (GRCm39)	nonsense	probably null
R5596:Nlrp4d	UTSW	7	10,115,951 (GRCm39)	missense	noncoding transcript
R5857:Nlrp4d	UTSW	7	10,116,304 (GRCm39)	missense	noncoding transcript

Posted On

2013-06-21