Mutagenetix > Incidental Mutations

Incidental Mutation 'R4553:Nlrp4e'

341781

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

041595-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4553 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23320979 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 297 (M297T)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

probably benign
Transcript: ENSMUST00000076470
AA Change: M297T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: M297T

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	T	C	5: 114,813,193	Y49C	probably damaging	Het
Adat1	T	C	8: 111,990,280	T32A	probably damaging	Het
Adra2a	T	C	19: 54,046,735	V174A	possibly damaging	Het
Armcx5	T	A	X: 135,746,507	V444D	probably damaging	Het
Cand2	C	A	6: 115,792,211	R661S	probably damaging	Het
Cd274	T	C	19: 29,380,448	V180A	probably benign	Het
Crat	T	C	2: 30,408,217	T157A	probably benign	Het
Cts6	G	A	13: 61,197,593	P230L	probably damaging	Het
Dppa2	A	G	16: 48,310,514	Y3C	possibly damaging	Het
Epgn	A	T	5: 91,027,562	K14*	probably null	Het
Fam71f2	A	G	6: 29,287,706	I210M	probably benign	Het
Gsap	A	T	5: 21,290,571	D79V	probably damaging	Het
Hgfac	T	A	5: 35,042,856	C130S	probably damaging	Het
Ifi35	T	C	11: 101,457,891	V188A	probably damaging	Het
Iqsec2	A	G	X: 152,211,281	H585R	probably benign	Het
Itih4	T	C	14: 30,900,953	L842P	probably damaging	Het
Kif3a	C	A	11: 53,578,918	L119I	possibly damaging	Het
Lrp2	T	C	2: 69,513,285	D910G	probably benign	Het
Lyve1	T	C	7: 110,852,360		probably null	Het
Mtss1l	A	G	8: 110,738,505	T464A	probably damaging	Het
Mx2	A	G	16: 97,552,005	T398A	possibly damaging	Het
Nog	A	G	11: 89,301,422	L200P	probably damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Papolb	T	C	5: 142,529,178	I237V	probably benign	Het
Phf11b	G	A	14: 59,341,285	P11S	probably benign	Het
Plcb1	T	C	2: 135,335,493	S582P	probably benign	Het
Pld1	G	T	3: 28,124,702	R915L	probably benign	Het
Sell	C	T	1: 164,072,116	T34I	probably benign	Het
Slc34a1	G	A	13: 55,412,061		probably null	Het
Slc8b1	T	C	5: 120,529,598	V432A	probably damaging	Het
Tipin	T	A	9: 64,288,103		probably null	Het
Vmn1r117	A	T	7: 20,883,592	F177Y	probably damaging	Het
Xab2	T	C	8: 3,611,015	T700A	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
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
R6647:Nlrp4e	UTSW	7	23321315	missense	probably benign	0.00
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
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'- CATCGACAACTTGGAAGTGATGG -3'
(R):5'- TACGTCGGCAGATTGAGACTG -3'

Sequencing Primer
(F):5'- AATGTGATATGTCTGAATGGGAGTC -3'
(R):5'- GGGTCTCTTCCCTTCTCTATCTC -3'

Posted On

2015-09-24