Mutagenetix > Incidental Mutations

Incidental Mutation 'R3724:Nlrp4e'

270674

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

040715-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3724 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23321377 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 430 (T430S)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

probably benign
Transcript: ENSMUST00000076470
AA Change: T430S

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: T430S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	T	8: 120,149,360	R133L	probably damaging	Het
Abhd8	G	A	8: 71,461,492	A164V	probably benign	Het
Api5	C	T	2: 94,425,613	R243Q	possibly damaging	Het
Atl1	A	G	12: 69,959,380	T487A	probably damaging	Het
C2cd6	C	T	1: 59,066,235		probably benign	Het
Ccdc88c	G	A	12: 100,930,524	A1389V	possibly damaging	Het
Ccna1	T	C	3: 55,050,932	E110G	probably damaging	Het
Ccne2	T	C	4: 11,203,039	C386R	probably benign	Het
Cfap53	A	G	18: 74,359,569	I455V	probably benign	Het
Ctdp1	C	T	18: 80,459,267	V143I	probably benign	Het
Cyp11a1	A	T	9: 58,019,322	M47L	probably benign	Het
Dnah5	T	C	15: 28,270,420	L956P	probably benign	Het
Enkd1	A	T	8: 105,703,925	V326E	possibly damaging	Het
Epha4	A	G	1: 77,426,543		probably benign	Het
Etv5	T	C	16: 22,435,912	D66G	probably damaging	Het
Evi5l	A	G	8: 4,178,080		probably benign	Het
Foxf2	A	G	13: 31,630,530	K409R	probably damaging	Het
Frem3	A	G	8: 80,615,271	T1398A	probably benign	Het
Galm	A	G	17: 80,183,280	T289A	probably benign	Het
Gtdc1	T	C	2: 44,756,307	E44G	probably damaging	Het
Hmcn1	T	A	1: 150,689,518	Y2286F	possibly damaging	Het
Iars	A	G	13: 49,687,384		probably null	Het
Ifna5	A	G	4: 88,835,934	E137G	probably damaging	Het
Itih4	G	A	14: 30,892,584	E468K	possibly damaging	Het
Kat6a	A	T	8: 22,862,788	H196L	probably damaging	Het
Kctd16	A	G	18: 40,258,859	T167A	possibly damaging	Het
Klhl29	C	T	12: 5,090,603	V680I	probably damaging	Het
March7	T	C	2: 60,229,745	I72T	probably benign	Het
Mbd6	C	T	10: 127,283,891		probably benign	Het
Mefv	A	G	16: 3,708,194		probably null	Het
Mindy3	T	A	2: 12,355,354	M6L	probably damaging	Het
Mrpl9	T	A	3: 94,447,766		probably null	Het
Olfr1187-ps1	T	G	2: 88,540,286		noncoding transcript	Het
Pcdh15	A	T	10: 74,645,848	T342S	probably benign	Het
Prkce	A	T	17: 86,168,623	K11*	probably null	Het
Pros1	T	C	16: 62,900,329	I117T	possibly damaging	Het
Prpf38b	T	C	3: 108,904,340		probably benign	Het
Sh3rf1	T	C	8: 61,372,722	S584P	probably benign	Het
Slit2	T	C	5: 48,256,883		probably null	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
Stambp	C	T	6: 83,557,466	E280K	probably damaging	Het
Tenm3	A	G	8: 48,277,746	I1329T	probably damaging	Het
Tex2	G	A	11: 106,529,330	T869I	unknown	Het
Tlk2	A	G	11: 105,247,564	T281A	probably benign	Het
Tpm1	G	A	9: 67,031,945		probably benign	Het
Trim3	A	G	7: 105,611,189	F702L	probably damaging	Het
Uba6	T	C	5: 86,135,047	D559G	probably damaging	Het
Vmn2r20	T	A	6: 123,385,747	T693S	probably benign	Het
Zfand2b	A	G	1: 75,169,855	K125E	possibly damaging	Het
Zfp422	C	T	6: 116,626,379	A220T	probably benign	Het
Zfp747	A	T	7: 127,374,590	V136D	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
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
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'- AATCTGCCGACGTATCACTTC -3'
(R):5'- AGGCACTGATACAACTGACG -3'

Sequencing Primer
(F):5'- GACGTATCACTTCCCTGTATACCAC -3'
(R):5'- CAACTGACGTTTTATTTCTTGGGAC -3'

Posted On

2015-03-18