Mutagenetix > Incidental Mutation

Incidental Mutation 'R6647:Nlrp4e'

526127

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4e

Ensembl Gene

ENSMUSG00000045693

Gene Name

NLR family, pyrin domain containing 4E

Synonyms

4930406H16Rik, Nalp4e, Nalp-epsilon

MMRRC Submission

044768-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6647 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23321315 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 409 (D409G)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076470]

AlphaFold

Q66X19

Predicted Effect

probably benign
Transcript: ENSMUST00000076470
AA Change: D409G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: D409G

Domain	Start	End	E-Value	Type
PYRIN	6	89	1.43e-35	SMART
Pfam:NACHT	148	317	1.3e-39	PFAM
LRR	689	716	1.87e1	SMART
LRR	718	745	7.74e0	SMART
LRR	746	772	2.5e1	SMART
LRR	774	801	2.67e1	SMART
LRR	802	829	6.48e-1	SMART
LRR	831	858	2.03e0	SMART
LRR	859	886	2.88e-6	SMART
LRR	888	915	9.41e0	SMART
LRR	916	943	1.02e2	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	A	1: 26,682,578	N1174Y	probably damaging	Het
Agl	T	C	3: 116,750,411	T1416A	probably damaging	Het
Atp7b	A	G	8: 22,028,478	S103P	probably damaging	Het
Ces1h	A	C	8: 93,352,026	*563G	probably null	Het
Cfap157	G	T	2: 32,779,074	A339E	probably benign	Het
Crebbp	C	T	16: 4,119,806	A698T	possibly damaging	Het
Cyp2b13	A	G	7: 26,085,899	H231R	possibly damaging	Het
Ddx31	A	T	2: 28,875,738	T483S	probably damaging	Het
Defa25	A	T	8: 21,085,185	D60V	possibly damaging	Het
Dnah5	G	A	15: 28,403,487	A3453T	probably benign	Het
Dnah6	A	T	6: 73,138,760	F1500I	probably damaging	Het
Eprs	C	T	1: 185,414,424	A1217V	probably damaging	Het
Ermp1	T	C	19: 29,626,935	Y481C	probably benign	Het
Fam159a	A	G	4: 108,368,027	S113P	probably benign	Het
Fmn2	T	A	1: 174,593,104	N635K	unknown	Het
Fras1	A	G	5: 96,735,202	D2531G	probably damaging	Het
Frat1	C	T	19: 41,830,825	Q220*	probably null	Het
Gcc2	T	A	10: 58,287,281		probably null	Het
Gm3285	T	C	10: 77,862,613		probably benign	Het
Gm9857	T	C	3: 108,940,063		probably benign	Het
Grin2b	C	A	6: 135,733,110	W1146L	probably damaging	Het
Hells	T	A	19: 38,931,504	L33I	probably benign	Het
Ift81	T	A	5: 122,610,166	R54*	probably null	Het
Ints12	G	A	3: 133,096,878	R41Q	possibly damaging	Het
Katnal2	C	T	18: 76,980,037	E403K	probably benign	Het
Kcnk1	A	G	8: 125,995,460	M1V	probably null	Het
Kdm5a	A	G	6: 120,412,461	T950A	probably benign	Het
Kdr	G	A	5: 75,952,889	A773V	probably damaging	Het
Lats1	G	C	10: 7,697,507	M118I	possibly damaging	Het
Mug1	A	G	6: 121,840,241	I90V	probably benign	Het
Nid2	A	G	14: 19,802,416	D1064G	probably benign	Het
Nkx2-4	A	T	2: 147,084,267	I225N	possibly damaging	Het
Ogfod2	G	C	5: 124,114,803	R292P	possibly damaging	Het
Olfr1163	A	T	2: 88,070,709	F224L	probably benign	Het
Olfr781	T	A	10: 129,333,164	C94*	probably null	Het
Olfr845	T	A	9: 19,338,629	H56Q	possibly damaging	Het
Olfr935	T	C	9: 38,994,914	I174V	possibly damaging	Het
Oprk1	C	T	1: 5,602,284	P215S	probably damaging	Het
Pcdhb16	A	G	18: 37,479,172	K395R	possibly damaging	Het
Ptprg	C	A	14: 11,962,714	P171T	probably damaging	Het
Pycard	T	C	7: 127,993,569	T29A	probably benign	Het
Rap1gap2	G	A	11: 74,407,928	A452V	probably benign	Het
Rasgrf1	C	G	9: 90,010,463	T1072S	probably benign	Het
Rc3h2	G	A	2: 37,382,944	R707*	probably null	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Senp7	T	C	16: 56,173,255	I767T	probably damaging	Het
Setd7	A	G	3: 51,542,762	V81A	probably benign	Het
Shkbp1	A	G	7: 27,342,375	S685P	probably benign	Het
Snrnp200	A	G	2: 127,226,452	E904G	probably damaging	Het
Spata22	T	A	11: 73,354,700		probably null	Het
Tas2r138	G	T	6: 40,612,799	T171K	possibly damaging	Het
Tor1aip1	T	C	1: 156,018,253	D77G	possibly damaging	Het
Vav3	A	T	3: 109,527,416	H421L	probably benign	Het
Vmn1r43	A	G	6: 89,869,859	L215P	probably damaging	Het
Vmn2r100	T	A	17: 19,522,523	S386R	probably benign	Het
Xpa	T	A	4: 46,183,089	R233S	probably benign	Het

Other mutations in Nlrp4e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Nlrp4e	APN	7	23343140	missense	probably damaging	1.00
IGL00833:Nlrp4e	APN	7	23340471	missense	probably benign	0.00
IGL01017:Nlrp4e	APN	7	23321667	missense	possibly damaging	0.93
IGL01025:Nlrp4e	APN	7	23353161	splice site	probably benign
IGL01815:Nlrp4e	APN	7	23321438	missense	probably benign	0.02
IGL01924:Nlrp4e	APN	7	23320830	nonsense	probably null
IGL02245:Nlrp4e	APN	7	23320875	missense	probably damaging	1.00
IGL02745:Nlrp4e	APN	7	23321291	missense	probably damaging	1.00
IGL02746:Nlrp4e	APN	7	23321839	missense	probably benign	0.00
IGL02987:Nlrp4e	APN	7	23301433	missense	probably damaging	1.00
IGL02997:Nlrp4e	APN	7	23301374	missense	probably benign	0.04
IGL03193:Nlrp4e	APN	7	23320826	missense	probably damaging	1.00
IGL03304:Nlrp4e	APN	7	23353343	critical splice donor site	probably null
IGL03352:Nlrp4e	APN	7	23320826	missense	probably damaging	1.00
R0389:Nlrp4e	UTSW	7	23355203	missense	probably damaging	0.98
R1028:Nlrp4e	UTSW	7	23321744	missense	probably damaging	1.00
R1163:Nlrp4e	UTSW	7	23320972	missense	probably benign	0.03
R1269:Nlrp4e	UTSW	7	23353338	missense	possibly damaging	0.95
R1400:Nlrp4e	UTSW	7	23321660	missense	possibly damaging	0.93
R1497:Nlrp4e	UTSW	7	23320372	missense	probably benign	0.00
R1518:Nlrp4e	UTSW	7	23321843	missense	probably benign	0.33
R1716:Nlrp4e	UTSW	7	23321033	missense	possibly damaging	0.56
R1727:Nlrp4e	UTSW	7	23320995	missense	probably benign	0.01
R1998:Nlrp4e	UTSW	7	23321246	missense	probably benign	0.00
R2177:Nlrp4e	UTSW	7	23355261	missense	probably benign	0.00
R3724:Nlrp4e	UTSW	7	23321377	missense	probably benign	0.28
R3767:Nlrp4e	UTSW	7	23340563	missense	probably damaging	1.00
R3795:Nlrp4e	UTSW	7	23320803	missense	probably benign	0.35
R4387:Nlrp4e	UTSW	7	23301477	missense	probably benign	0.00
R4387:Nlrp4e	UTSW	7	23321227	missense	probably benign	0.01
R4388:Nlrp4e	UTSW	7	23301477	missense	probably benign	0.00
R4388:Nlrp4e	UTSW	7	23321227	missense	probably benign	0.01
R4389:Nlrp4e	UTSW	7	23321227	missense	probably benign	0.01
R4403:Nlrp4e	UTSW	7	23321463	nonsense	probably null
R4444:Nlrp4e	UTSW	7	23321227	missense	probably benign	0.01
R4486:Nlrp4e	UTSW	7	23321227	missense	probably benign	0.01
R4547:Nlrp4e	UTSW	7	23336866	missense	probably benign	0.00
R4553:Nlrp4e	UTSW	7	23320979	missense	probably benign
R4666:Nlrp4e	UTSW	7	23336780	nonsense	probably null
R4721:Nlrp4e	UTSW	7	23321096	missense	possibly damaging	0.84
R4728:Nlrp4e	UTSW	7	23321564	missense	probably benign
R4758:Nlrp4e	UTSW	7	23320618	missense	probably benign	0.17
R4775:Nlrp4e	UTSW	7	23343100	missense	probably benign	0.14
R4830:Nlrp4e	UTSW	7	23336740	missense	probably benign	0.03
R4954:Nlrp4e	UTSW	7	23361893	nonsense	probably null
R5277:Nlrp4e	UTSW	7	23321438	missense	probably benign	0.02
R5352:Nlrp4e	UTSW	7	23353173	missense	probably benign	0.26
R5521:Nlrp4e	UTSW	7	23321765	missense	probably benign	0.00
R5528:Nlrp4e	UTSW	7	23336891	missense	probably benign	0.07
R5537:Nlrp4e	UTSW	7	23320489	missense	probably benign	0.00
R5584:Nlrp4e	UTSW	7	23321177	missense	probably benign
R5683:Nlrp4e	UTSW	7	23353272	missense	probably damaging	0.99
R6160:Nlrp4e	UTSW	7	23321306	missense	probably damaging	0.99
R6313:Nlrp4e	UTSW	7	23353172	missense	probably benign
R6427:Nlrp4e	UTSW	7	23320633	missense	possibly damaging	0.48
R6929:Nlrp4e	UTSW	7	23336731	critical splice acceptor site	probably null
R7307:Nlrp4e	UTSW	7	23321528	missense	probably benign	0.07
R7792:Nlrp4e	UTSW	7	23321757	missense	possibly damaging	0.60
R8169:Nlrp4e	UTSW	7	23320506	missense	probably benign	0.06
R8445:Nlrp4e	UTSW	7	23340540	missense	probably benign	0.00
R8487:Nlrp4e	UTSW	7	23321558	missense	probably benign	0.00
R8906:Nlrp4e	UTSW	7	23321131	missense	possibly damaging	0.88
R9124:Nlrp4e	UTSW	7	23320978	missense	probably benign
R9167:Nlrp4e	UTSW	7	23340526	missense	probably benign	0.00
R9181:Nlrp4e	UTSW	7	23361845	nonsense	probably null
R9219:Nlrp4e	UTSW	7	23321516	missense	possibly damaging	0.50
R9229:Nlrp4e	UTSW	7	23321374	missense	probably benign	0.00
R9321:Nlrp4e	UTSW	7	23321330	missense	probably benign
R9323:Nlrp4e	UTSW	7	23321330	missense	probably benign
R9325:Nlrp4e	UTSW	7	23321330	missense	probably benign
R9379:Nlrp4e	UTSW	7	23321330	missense	probably benign
R9380:Nlrp4e	UTSW	7	23321330	missense	probably benign
R9448:Nlrp4e	UTSW	7	23301531	missense	probably benign
R9523:Nlrp4e	UTSW	7	23355211	missense	probably benign	0.00
R9593:Nlrp4e	UTSW	7	23320772	missense	probably benign	0.19
X0022:Nlrp4e	UTSW	7	23343119	missense	probably damaging	1.00
X0025:Nlrp4e	UTSW	7	23343178	missense	possibly damaging	0.91
X0026:Nlrp4e	UTSW	7	23355223	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TGTATGTCAAGTCCCTGTGCTC -3'
(R):5'- ATGGTCTACATGGCTCTTTAGC -3'

Sequencing Primer
(F):5'- AAGTCCCTGTGCTCTGCTGG -3'
(R):5'- CTCTTTAGCAGATGAAAGATGGC -3'

Posted On

2018-06-22