Mutagenetix > Incidental Mutations

Incidental Mutation 'R4830:Nlrp4e'

372740

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

042446-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4830 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23336740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 673 (N673Y)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

probably benign
Transcript: ENSMUST00000076470
AA Change: N673Y

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: N673Y

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

97% (71/73)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	C	A	3: 121,760,284	G643V	probably damaging	Het
Adamtsl1	A	G	4: 86,356,382	E1225G	probably damaging	Het
Agbl5	G	A	5: 30,890,715	R111H	probably damaging	Het
Ankle2	A	C	5: 110,242,013	K446Q	probably damaging	Het
Boc	A	C	16: 44,490,157	M800R	probably damaging	Het
Ccnt1	A	T	15: 98,543,451	N645K	probably damaging	Het
Cd93	G	A	2: 148,443,379	Q16*	probably null	Het
Cpsf4l	G	T	11: 113,709,502		probably benign	Het
Cuzd1	T	A	7: 131,318,054	D111V	probably damaging	Het
Dab2	T	C	15: 6,427,527	C232R	probably benign	Het
Dmpk	A	T	7: 19,087,528	Y237F	probably damaging	Het
Dnah6	T	A	6: 73,044,762	T3526S	possibly damaging	Het
Dock2	T	C	11: 34,273,767		probably null	Het
Dsp	G	A	13: 38,192,864	V1542I	probably benign	Het
Dst	T	A	1: 34,198,505		probably null	Het
Esd	T	C	14: 74,741,160	L54S	probably damaging	Het
Exd1	C	T	2: 119,520,326	A485T	probably benign	Het
Gm3604	A	T	13: 62,369,043	N500K	probably damaging	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Grhl2	T	A	15: 37,335,659		probably null	Het
Gsto1	C	T	19: 47,864,391	R222C	probably benign	Het
H2afy2	C	T	10: 61,739,353	D355N	possibly damaging	Het
Inpp4a	T	A	1: 37,371,780	M343K	probably damaging	Het
Itpripl2	T	C	7: 118,491,057	Q93R	probably benign	Het
Jakmip2	G	A	18: 43,567,143	T450I	probably benign	Het
Kdm6b	A	T	11: 69,403,794	I1186N	unknown	Het
Kif1a	T	C	1: 93,021,209		probably null	Het
Klhl20	T	C	1: 161,098,376	K434R	probably benign	Het
Lemd3	T	C	10: 120,931,948	D697G	probably damaging	Het
Lipo1	A	G	19: 33,776,587	S383P	probably damaging	Het
Ltn1	C	A	16: 87,379,694	K1741N	probably damaging	Het
Lvrn	A	T	18: 46,905,351	T991S	probably damaging	Het
Mast3	C	A	8: 70,788,915	R151L	possibly damaging	Het
Muc4	G	C	16: 32,753,919	R1265P	probably benign	Het
Myoz1	T	C	14: 20,655,309	K14E	probably damaging	Het
Neb	G	T	2: 52,192,520	Q5450K	probably damaging	Het
Nedd1	T	A	10: 92,686,258	N639I	probably damaging	Het
Nop53	C	T	7: 15,942,204	R190Q	probably damaging	Het
Notch4	T	C	17: 34,570,118	Y468H	probably damaging	Het
Obscn	T	C	11: 59,067,607	T3507A	probably damaging	Het
Olfr724	T	C	14: 49,960,224	N283D	probably damaging	Het
Opn5	T	C	17: 42,611,296	H5R	probably benign	Het
Patl1	T	C	19: 11,925,151	M349T	probably benign	Het
Phactr3	A	G	2: 178,284,018	N362S	probably damaging	Het
Pirb	C	T	7: 3,717,603	G299S	probably benign	Het
Rapgef5	G	A	12: 117,756,074	R579Q	probably damaging	Het
Rgl1	T	C	1: 152,554,330	D234G	probably benign	Het
Serpinb3a	C	T	1: 107,048,586	E122K	probably benign	Het
Slc22a15	T	C	3: 101,875,603		probably benign	Het
Slc25a12	A	T	2: 71,296,805	V344E	probably damaging	Het
Slc43a2	T	C	11: 75,543,293	L99P	probably damaging	Het
Smim27	G	T	4: 40,269,719		probably null	Het
Smtn	A	G	11: 3,520,736		probably benign	Het
Szt2	A	T	4: 118,369,248	Y3001N	unknown	Het
Tgfbr3	G	T	5: 107,109,719	P825T	probably damaging	Het
Tnpo3	T	C	6: 29,568,938	T472A	probably benign	Het
Trf	T	A	9: 103,227,915	D66V	probably damaging	Het
Vmn1r124	A	G	7: 21,259,699	C307R	probably damaging	Het
Vps13b	T	A	15: 35,452,224	F656Y	possibly damaging	Het
Zic1	G	T	9: 91,362,531	S358R	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
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
R9448:Nlrp4e	UTSW	7	23301531	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'- CAGGCTTTCCTTATGTGACAGC -3'
(R):5'- CTTTAAGGGGAGTCAGTGAGCTAG -3'

Sequencing Primer
(F):5'- ATGTGACAGCCAACCTTGTC -3'
(R):5'- TGAGCTAGGAGAACACACAGACTTAC -3'

Posted On

2016-03-01