Mutagenetix > Incidental Mutation

Incidental Mutation 'R1585:Nlrp4d'

177430

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4d

Ensembl Gene

ENSMUSG00000034122

Gene Name

NLR family, pyrin domain containing 4D

Synonyms

Nalp-beta, Nalp4d

MMRRC Submission

039622-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1585 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10092800-10122862 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10116437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 148 (H148R)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000086269
AA Change: H148R

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000083450
Gene: ENSMUSG00000034122
AA Change: H148R

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: 99.1%
3x: 98.1%
10x: 95.7%
20x: 91.2%

Validation Efficiency

95% (81/85)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	A	10: 28,858,518 (GRCm39)	I50F	possibly damaging	Het
4930505A04Rik	T	C	11: 30,377,175 (GRCm39)		probably benign	Het
Aadat	A	T	8: 60,979,714 (GRCm39)	D192V	possibly damaging	Het
Akap12	A	G	10: 4,303,640 (GRCm39)	D150G	probably benign	Het
Amigo3	A	T	9: 107,931,231 (GRCm39)	N218I	probably damaging	Het
Ankmy1	A	G	1: 92,827,373 (GRCm39)	S60P	probably benign	Het
Apol7e	G	A	15: 77,602,029 (GRCm39)	S209N	probably damaging	Het
AW551984	A	T	9: 39,510,632 (GRCm39)	Y234*	probably null	Het
Bcam	A	T	7: 19,494,111 (GRCm39)	D393E	probably damaging	Het
Card9	A	G	2: 26,244,398 (GRCm39)	L444P	probably benign	Het
Ccar1	T	C	10: 62,586,780 (GRCm39)	E886G	unknown	Het
Ccnb2	A	T	9: 70,317,559 (GRCm39)		probably null	Het
Cd276	T	C	9: 58,442,838 (GRCm39)	S206G	probably damaging	Het
Cds1	T	A	5: 101,965,828 (GRCm39)		probably benign	Het
Cfap96	G	A	8: 46,409,515 (GRCm39)	S268L	probably benign	Het
Chuk	T	C	19: 44,065,812 (GRCm39)	S661G	possibly damaging	Het
Col17a1	T	C	19: 47,639,276 (GRCm39)	N1090D	probably benign	Het
Col3a1	A	T	1: 45,367,026 (GRCm39)		probably null	Het
Crispld1	G	T	1: 17,821,024 (GRCm39)	V355F	possibly damaging	Het
Cspg4	A	T	9: 56,806,151 (GRCm39)	R2321W	probably damaging	Het
Dner	T	C	1: 84,563,177 (GRCm39)	T61A	probably benign	Het
Dnmt3a	A	T	12: 3,951,660 (GRCm39)	Y679F	probably damaging	Het
Dzip3	A	T	16: 48,798,241 (GRCm39)		probably benign	Het
Eif3l	T	C	15: 78,968,381 (GRCm39)	S217P	possibly damaging	Het
Fbxo42	T	A	4: 140,925,417 (GRCm39)		probably benign	Het
Fhod1	A	T	8: 106,063,957 (GRCm39)		probably benign	Het
Fzd1	T	A	5: 4,806,278 (GRCm39)	I435F	probably damaging	Het
Gapvd1	C	T	2: 34,602,207 (GRCm39)	V647I	possibly damaging	Het
Gm14496	T	C	2: 181,638,002 (GRCm39)	S359P	possibly damaging	Het
Gm5218	C	A	15: 81,383,741 (GRCm39)		noncoding transcript	Het
Hnrnph3	A	G	10: 62,851,579 (GRCm39)		probably null	Het
Hsd17b12	G	T	2: 93,864,321 (GRCm39)	T262K	probably damaging	Het
Igsf10	G	C	3: 59,237,838 (GRCm39)	P781R	probably damaging	Het
Il11ra1	T	A	4: 41,768,207 (GRCm39)	S373T	probably damaging	Het
Kdm3b	A	G	18: 34,942,345 (GRCm39)	D612G	probably damaging	Het
Ldb1	T	C	19: 46,022,903 (GRCm39)	T261A	probably damaging	Het
Lep	C	A	6: 29,069,089 (GRCm39)	H47N	possibly damaging	Het
Lrrtm2	A	T	18: 35,346,428 (GRCm39)	S291R	possibly damaging	Het
Ncor2	T	C	5: 125,162,062 (GRCm39)	Q404R	unknown	Het
Nlrp9a	T	A	7: 26,258,093 (GRCm39)	D570E	probably benign	Het
Nphp3	G	A	9: 103,886,413 (GRCm39)	V202I	probably damaging	Het
Nptn	T	A	9: 58,548,073 (GRCm39)	N159K	probably benign	Het
Or4a69	T	A	2: 89,313,315 (GRCm39)	T55S	probably benign	Het
Or4a72	A	T	2: 89,405,746 (GRCm39)	V108D	possibly damaging	Het
Or51f2	G	A	7: 102,526,980 (GRCm39)	V218I	probably benign	Het
Or52a24	A	T	7: 103,381,585 (GRCm39)	T151S	possibly damaging	Het
Or8b53	A	T	9: 38,667,716 (GRCm39)	H244L	probably damaging	Het
Pcolce	T	A	5: 137,608,769 (GRCm39)	R13*	probably null	Het
Pdgfra	A	G	5: 75,353,264 (GRCm39)	Y1018C	probably damaging	Het
Prima1	A	G	12: 103,201,854 (GRCm39)	S74P	probably damaging	Het
Prl7c1	A	G	13: 27,962,838 (GRCm39)	L55P	probably damaging	Het
Rasef	A	G	4: 73,658,574 (GRCm39)	V513A	probably damaging	Het
Rgs1	T	C	1: 144,121,227 (GRCm39)		probably null	Het
Rlf	T	C	4: 121,005,488 (GRCm39)	E1164G	probably benign	Het
Rnf213	A	T	11: 119,354,171 (GRCm39)	N4016I	probably damaging	Het
Sae1	C	T	7: 16,064,537 (GRCm39)		probably null	Het
Serping1	A	T	2: 84,601,848 (GRCm39)	D207E	probably benign	Het
Setd2	T	A	9: 110,380,464 (GRCm39)	D33E	unknown	Het
Simc1	T	C	13: 54,673,071 (GRCm39)	M473T	probably benign	Het
Slc30a6	T	A	17: 74,725,610 (GRCm39)		probably benign	Het
Slc4a5	T	C	6: 83,242,669 (GRCm39)	L346P	probably damaging	Het
Spef2	T	A	15: 9,596,660 (GRCm39)	Q1473L	probably damaging	Het
St3gal3	G	T	4: 117,817,204 (GRCm39)	A44D	possibly damaging	Het
Sv2b	G	T	7: 74,797,425 (GRCm39)	T323K	probably damaging	Het
Sycp2	T	A	2: 177,993,461 (GRCm39)	N1228I	possibly damaging	Het
Thbs2	T	A	17: 14,910,030 (GRCm39)	M190L	probably benign	Het
Tnrc6a	G	A	7: 122,776,098 (GRCm39)	V1190I	probably benign	Het
Utrn	A	T	10: 12,312,029 (GRCm39)	I673K	possibly damaging	Het
Vmn2r114	C	T	17: 23,510,675 (GRCm39)	V602M	probably damaging	Het
Wdr7	A	T	18: 64,057,989 (GRCm39)	I1273L	probably benign	Het
Zfp618	T	C	4: 63,051,175 (GRCm39)	L652P	probably damaging	Het
Zfp804a	G	A	2: 81,884,095 (GRCm39)		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
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
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'- ACACTCACTGGAGATCAGATCAGCC -3'
(R):5'- AGCTCATTTGAAGACGAAGGTGACC -3'

Sequencing Primer
(F):5'- TGCTTCAAATCTTGACAGCAG -3'
(R):5'- TGACCCATTATGGTTTCAGAGC -3'

Posted On

2014-04-24