Mutagenetix > Incidental Mutations

Incidental Mutation 'R4954:Nlrp4e'

381482

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

042551-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4954 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 23361893 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 970 (K970*)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

probably null
Transcript: ENSMUST00000076470
AA Change: K970*

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: K970*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208495

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,911,434	H668Y	probably benign	Het
AI464131	G	A	4: 41,498,241	A463V	possibly damaging	Het
Alk	C	T	17: 71,902,692	W919*	probably null	Het
Aoc3	G	A	11: 101,332,099	G387D	probably damaging	Het
Arhgap26	T	A	18: 39,243,641	C441S	probably benign	Het
Arhgap28	C	A	17: 67,869,013	E100*	probably null	Het
Ate1	C	T	7: 130,509,018	G186D	probably benign	Het
Birc6	T	A	17: 74,612,031	L1948H	probably damaging	Het
Bmp2k	C	T	5: 97,086,764		probably benign	Het
Ccin	A	T	4: 43,985,077	I495F	probably benign	Het
Cir1	T	A	2: 73,310,504	E40D	probably benign	Het
Cyp3a57	A	T	5: 145,370,955		probably null	Het
Dennd1b	A	G	1: 139,053,386	T113A	probably damaging	Het
Dnah2	G	A	11: 69,539,496	P79S	possibly damaging	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Enpep	A	T	3: 129,284,180	I596N	probably damaging	Het
Eps15	G	A	4: 109,370,678		probably null	Het
Ext1	T	C	15: 53,344,492	D291G	probably damaging	Het
Gm12883	T	C	4: 121,395,001		noncoding transcript	Het
Gm7257	A	T	9: 36,432,860	K46N	probably benign	Het
Gm9921	A	G	12: 45,437,600		noncoding transcript	Het
H2-T22	C	A	17: 36,041,959	W85C	probably damaging	Het
Heatr1	G	A	13: 12,407,516		probably null	Het
Hspa4l	T	A	3: 40,785,400		probably null	Het
Kcnc3	CTT	CT	7: 44,591,296		probably null	Het
Kpna1	T	C	16: 36,033,326	V442A	probably damaging	Het
Mogat2	T	C	7: 99,238,517	T17A	possibly damaging	Het
Musk	C	T	4: 58,344,222	T285I	probably damaging	Het
Nbea	T	G	3: 56,035,958	Q632P	probably damaging	Het
Ncoa3	T	C	2: 166,065,786	V1105A	probably benign	Het
Neb	T	C	2: 52,177,518		probably null	Het
Olfr309	T	C	7: 86,306,601	I171V	probably benign	Het
Olfr47	A	G	6: 43,236,384	M259V	probably benign	Het
Olfr628	A	G	7: 103,732,207	I94V	probably damaging	Het
Oog2	A	T	4: 144,190,732		probably benign	Het
Otos	T	C	1: 92,644,445	Y53C	probably damaging	Het
Oxct2a	A	T	4: 123,322,459	C376*	probably null	Het
Phf14	C	A	6: 11,987,620	Q633K	probably benign	Het
Pkdrej	T	A	15: 85,816,401	N1778I	probably damaging	Het
Psmc3	C	T	2: 91,055,629		probably benign	Het
Rbm33	A	T	5: 28,339,276	I177F	probably damaging	Het
Rps6ka2	A	G	17: 7,271,604	D307G	probably benign	Het
Rps6ka2	G	A	17: 7,299,286	V648I	probably benign	Het
Scn11a	C	T	9: 119,758,659	V1340M	possibly damaging	Het
Sema7a	T	C	9: 57,956,380	W279R	probably damaging	Het
Slc2a10	A	T	2: 165,514,755	I112F	probably damaging	Het
Stk4	C	A	2: 164,151,681	S77R	possibly damaging	Het
Stk4	T	A	2: 164,151,682	W78R	probably damaging	Het
Syf2	T	A	4: 134,934,972	L99*	probably null	Het
Tas2r104	A	T	6: 131,685,005	I247K	probably damaging	Het
Usp15	G	T	10: 123,131,398	R368S	probably damaging	Het
Usp5	C	G	6: 124,822,630	K318N	possibly damaging	Het
Vmn2r2	T	A	3: 64,140,484	L20F	probably benign	Het
Wdr60	T	C	12: 116,256,025	D99G	probably damaging	Het
Zcchc4	A	T	5: 52,819,217	H451L	probably damaging	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
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'- GGTTACCTGAACTTGGCCTTG -3'
(R):5'- TGCAAAACACATCTGAATGGGG -3'

Sequencing Primer
(F):5'- GAGAAATGGCTCCTCTGTTAAGC -3'
(R):5'- GCGTGGATAAAGAAACTGTATGTATC -3'

Posted On

2016-04-27