Mutagenetix > Incidental Mutations

Incidental Mutation 'R0595:Nlrp4d'

55059

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4d

Ensembl Gene

ENSMUSG00000034122

Gene Name

NLR family, pyrin domain containing 4D

Synonyms

Nalp4d, Nalp-beta

MMRRC Submission

038785-MU

Accession Numbers

Genbank: XM_001481310; Ensembl: ENSMUST00000184509

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0595 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10358862-10388935 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10381045 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 581 (K581N)

Gene Model

predicted gene model for transcript(s):

Predicted Effect

probably benign
Transcript: ENSMUST00000086269
AA Change: K581N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000083450
Gene: ENSMUSG00000034122
AA Change: K581N

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.5%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,740,417	D1093E	probably damaging	Het
Aldh2	G	T	5: 121,573,500	A276D	probably damaging	Het
Aldh2	C	T	5: 121,573,501	A276T	probably damaging	Het
Aldh7a1	C	T	18: 56,546,893		probably benign	Het
Ano1	C	T	7: 144,590,153	R964H	possibly damaging	Het
Apob	G	A	12: 8,008,369	V2251I	probably benign	Het
Atp6v1e1	A	G	6: 120,801,130	V148A	probably benign	Het
Bbs9	T	A	9: 22,496,815	H73Q	probably benign	Het
Brca1	A	G	11: 101,524,887	V807A	probably benign	Het
Cacna1b	C	T	2: 24,649,989		probably benign	Het
Cadps2	A	T	6: 23,321,704		probably null	Het
Cep152	T	C	2: 125,595,063	Q519R	probably damaging	Het
Cep295	A	C	9: 15,332,191	Y1608*	probably null	Het
Cfap54	T	C	10: 92,884,736	I2619V	unknown	Het
Dnajb9	A	G	12: 44,208,284	V7A	probably benign	Het
Ep400	T	C	5: 110,703,542	K1358R	unknown	Het
Fbxw7	C	A	3: 84,977,367		probably null	Het
Fsip2	T	C	2: 82,946,952	Y108H	probably damaging	Het
Ggt6	T	A	11: 72,437,667	L331Q	probably damaging	Het
Ifitm1	T	A	7: 140,968,329	I25N	possibly damaging	Het
Krt75	C	T	15: 101,568,354	E367K	probably damaging	Het
Lifr	A	G	15: 7,177,469	Y487C	probably damaging	Het
Map3k6	G	T	4: 133,241,263	G59W	probably damaging	Het
Mme	A	G	3: 63,328,181	T129A	probably benign	Het
Mmp10	G	A	9: 7,508,198	E442K	probably benign	Het
Myh13	T	C	11: 67,344,846	S646P	probably benign	Het
Nbea	A	T	3: 55,628,496	I2889N	probably benign	Het
Nr3c2	C	T	8: 76,909,604	P445S	possibly damaging	Het
Olfr487	A	T	7: 108,211,661	N289K	probably damaging	Het
Pck1	T	A	2: 173,157,029	V360E	probably damaging	Het
Plekha7	T	C	7: 116,144,968	D766G	probably damaging	Het
Prag1	A	G	8: 36,147,002	N1236S	probably damaging	Het
Prkdc	A	C	16: 15,808,088	Q3326P	probably damaging	Het
Prrc2b	T	C	2: 32,183,177	M57T	probably damaging	Het
Rb1	A	T	14: 73,273,680	F330I	probably damaging	Het
Rufy4	A	G	1: 74,140,930	E448G	possibly damaging	Het
Scn10a	T	A	9: 119,666,063	M371L	probably benign	Het
Sgta	T	C	10: 81,048,908	D189G	probably damaging	Het
Spata31d1b	A	G	13: 59,716,277	H413R	probably benign	Het
Stau2	T	C	1: 16,440,450	T95A	probably damaging	Het
Supt4a	C	T	11: 87,743,156		probably null	Het
Tanc2	A	G	11: 105,714,177		probably null	Het
Tap2	T	A	17: 34,212,354	V422D	probably damaging	Het
Tas2r138	A	G	6: 40,612,865	L149P	probably damaging	Het
Tex15	T	C	8: 33,572,617	S692P	probably damaging	Het
Tgm2	C	T	2: 158,143,042	R48H	probably damaging	Het
Ticrr	T	A	7: 79,695,563	F1725L	possibly damaging	Het
Tnpo2	T	A	8: 85,052,041	C672*	probably null	Het
Xkr9	A	G	1: 13,700,784	I175V	probably benign	Het
Zfp428	T	A	7: 24,515,378	S140T	probably benign	Het

Other mutations in Nlrp4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
F5493:Nlrp4d	UTSW	7	10381084	missense	possibly damaging	0.84
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
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

Predicted Primers

PCR Primer
(F):5'- TGTACCATTACCAATCAAGTTGACAGCC -3'
(R):5'- GTTGTGTCAGTGCCTGAAAACCATAAG -3'

Sequencing Primer
(F):5'- TGAGCACTTGCCATTGGAC -3'
(R):5'- GAGTTGGATGATGAAGCCTTCTTAG -3'

Posted On

2013-07-11