Mutagenetix > Incidental Mutation

Incidental Mutation 'R0729:Nlrp4d'

67381

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4d

Ensembl Gene

ENSMUSG00000034122

Gene Name

NLR family, pyrin domain containing 4D

Synonyms

Nalp-beta, Nalp4d

MMRRC Submission

038910-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0729 (G1)

Quality Score

136

Status

Validated

Chromosome

Chromosomal Location

10092800-10122862 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (4 bp from exon)

DNA Base Change (assembly)

A to T at 10111612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000086269

SMART Domains

Protein: ENSMUSP00000083450
Gene: ENSMUSG00000034122

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

0.0814

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.0%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	A	11: 72,050,281 (GRCm39)	A828S	probably benign	Het
Acsm3	T	C	7: 119,383,207 (GRCm39)		probably benign	Het
Adamts12	G	A	15: 11,255,769 (GRCm39)	R446H	possibly damaging	Het
Adgrb1	A	G	15: 74,420,398 (GRCm39)	N849S	probably damaging	Het
Ankra2	A	G	13: 98,408,235 (GRCm39)	D228G	probably damaging	Het
Bicd1	T	C	6: 149,414,412 (GRCm39)	V375A	probably damaging	Het
Blvrb	A	G	7: 27,147,555 (GRCm39)	K5E	possibly damaging	Het
Cacna2d2	A	G	9: 107,394,456 (GRCm39)	N573D	probably benign	Het
Calhm2	C	A	19: 47,121,356 (GRCm39)	G271V	possibly damaging	Het
Capn13	C	T	17: 73,629,064 (GRCm39)	G581E	probably damaging	Het
Capzb	T	C	4: 139,016,288 (GRCm39)		probably benign	Het
Casd1	T	C	6: 4,619,753 (GRCm39)		probably benign	Het
Clca4b	A	G	3: 144,634,111 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crx	A	G	7: 15,605,058 (GRCm39)		probably benign	Het
Cyp2c68	T	C	19: 39,727,994 (GRCm39)		probably benign	Het
Dcaf8	T	A	1: 172,000,221 (GRCm39)	D126E	probably benign	Het
Ddx31	T	C	2: 28,764,186 (GRCm39)	I464T	probably damaging	Het
Dhx32	G	A	7: 133,339,150 (GRCm39)	T155I	probably benign	Het
Elac2	C	A	11: 64,889,349 (GRCm39)	P567T	possibly damaging	Het
Fat4	A	G	3: 39,054,444 (GRCm39)		probably benign	Het
Fh1	T	G	1: 175,442,383 (GRCm39)	N156H	probably damaging	Het
Gm10064	T	C	5: 122,835,584 (GRCm39)		noncoding transcript	Het
Gm14137	A	G	2: 119,005,834 (GRCm39)	E131G	probably benign	Het
Gpr22	T	A	12: 31,759,312 (GRCm39)	K233M	probably damaging	Het
Gpr63	A	G	4: 25,007,480 (GRCm39)	N68S	probably benign	Het
Gypa	C	T	8: 81,223,421 (GRCm39)	P66S	unknown	Het
Htr2a	A	T	14: 74,879,587 (GRCm39)	Q72L	probably benign	Het
Klhdc7b	C	T	15: 89,271,598 (GRCm39)	R827*	probably null	Het
Leo1	G	A	9: 75,364,420 (GRCm39)	R520Q	possibly damaging	Het
Lrrc66	T	C	5: 73,765,757 (GRCm39)	M429V	probably benign	Het
Lrrc74a	C	T	12: 86,792,353 (GRCm39)	Q225*	probably null	Het
Mamdc4	T	A	2: 25,460,048 (GRCm39)	N68Y	probably damaging	Het
Map3k10	G	A	7: 27,360,992 (GRCm39)	P507L	probably damaging	Het
Methig1	T	A	15: 100,272,870 (GRCm39)	C68S	probably benign	Het
Metrn	C	T	17: 26,015,202 (GRCm39)		probably benign	Het
Mmp12	C	T	9: 7,358,290 (GRCm39)	T392I	possibly damaging	Het
Mss51	A	T	14: 20,533,160 (GRCm39)	I437N	probably damaging	Het
Mtus2	A	G	5: 148,014,097 (GRCm39)	T297A	probably benign	Het
Myo10	T	C	15: 25,722,243 (GRCm39)		probably benign	Het
Ncoa7	G	A	10: 30,567,575 (GRCm39)	P319S	probably benign	Het
Obscn	A	G	11: 58,923,535 (GRCm39)	S6455P	probably damaging	Het
Or5b97	T	C	19: 12,878,259 (GRCm39)	N295S	probably damaging	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Pcdh12	A	G	18: 38,415,517 (GRCm39)	I536T	probably benign	Het
Pex5l	G	T	3: 33,008,685 (GRCm39)		probably benign	Het
Pla2g2e	A	C	4: 138,608,046 (GRCm39)	K43Q	possibly damaging	Het
Rasa4	T	C	5: 136,130,924 (GRCm39)		probably benign	Het
Rsf1	C	T	7: 97,328,234 (GRCm39)	R1079W	probably damaging	Het
Sez6	A	G	11: 77,867,411 (GRCm39)	T803A	probably benign	Het
Shcbp1	T	A	8: 4,786,297 (GRCm39)	N602Y	probably benign	Het
Slc16a13	G	A	11: 70,109,857 (GRCm39)	P215S	probably damaging	Het
Slc39a6	T	C	18: 24,734,527 (GRCm39)	Q54R	probably benign	Het
Smg1	C	A	7: 117,745,512 (GRCm39)		probably benign	Het
Spg7	A	G	8: 123,797,156 (GRCm39)	N110D	probably damaging	Het
Sptbn1	A	T	11: 30,060,902 (GRCm39)	S2010T	probably damaging	Het
Sun1	T	A	5: 139,223,619 (GRCm39)		probably benign	Het
Sytl5	A	G	X: 9,860,736 (GRCm39)	E717G	probably damaging	Het
Tle1	A	T	4: 72,044,679 (GRCm39)		probably benign	Het
Tm9sf4	T	A	2: 153,033,065 (GRCm39)	V290E	probably damaging	Het
Tmem63b	A	G	17: 45,985,060 (GRCm39)	S179P	probably damaging	Het
Trpm3	T	A	19: 22,965,153 (GRCm39)	F1549L	probably benign	Het
Ubr4	A	T	4: 139,212,631 (GRCm39)	Y5063F	possibly damaging	Het
Uroc1	T	A	6: 90,313,937 (GRCm39)	Y75N	probably damaging	Het
Vmn2r70	T	C	7: 85,215,112 (GRCm39)	T141A	probably benign	Het
Vps13c	A	G	9: 67,868,931 (GRCm39)	K3128E	probably damaging	Het
Wdr26	T	C	1: 181,013,470 (GRCm39)		probably null	Het
Wrn	T	A	8: 33,738,946 (GRCm39)		probably null	Het
Zfp106	C	T	2: 120,385,729 (GRCm39)	V13M	probably damaging	Het
Zfp456	G	A	13: 67,514,663 (GRCm39)	H348Y	probably damaging	Het
Zfpm1	G	A	8: 123,063,398 (GRCm39)	R819H	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
IGL01076:Nlrp4d	APN	7	10,106,010 (GRCm39)	missense	unknown	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- GGCTTCCTACAACAGTAGCCTATATGC -3'
(R):5'- CCCCAGCTTCACCCTTAAAGAACTTATG -3'

Sequencing Primer
(F):5'- acagtagcctatatgctgaaaatttg -3'
(R):5'- caccactaatgtctgttgcc -3'

Posted On

2013-09-03