Mutagenetix > Incidental Mutation

Incidental Mutation 'R1163:Nlrp4e'

100616

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

039236-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1163 (G1)

Quality Score

157

Status

Not validated

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23320972 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 295 (V295I)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

probably benign
Transcript: ENSMUST00000076470
AA Change: V295I

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: V295I

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: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	A	10: 87,121,422	Y7N	probably damaging	Het
4930579F01Rik	T	G	3: 138,176,510	D18A	probably damaging	Het
Abca8a	T	C	11: 110,071,530	D499G	probably benign	Het
Adamts1	G	C	16: 85,802,637	A25G	probably benign	Het
Adamts2	A	T	11: 50,779,714	I552F	probably damaging	Het
Akap3	A	G	6: 126,864,787	D123G	probably damaging	Het
Ankar	C	T	1: 72,688,705	V350I	possibly damaging	Het
Apob	A	G	12: 8,011,654	T3379A	probably damaging	Het
Ash1l	G	T	3: 89,035,263		probably null	Het
Atp2b1	T	C	10: 98,979,851	I119T	possibly damaging	Het
B3gnt2	A	T	11: 22,836,558	M210K	probably benign	Het
Bcl11a	A	G	11: 24,165,143	N829D	probably benign	Het
Btnl4	T	C	17: 34,470,075	E337G	possibly damaging	Het
Casr	A	T	16: 36,494,807	V967D	probably damaging	Het
Cd200	A	T	16: 45,392,352	V244D	probably damaging	Het
Cd200r4	A	G	16: 44,838,020	N256D	probably benign	Het
Cep68	A	G	11: 20,240,539	S158P	probably damaging	Het
Chst10	A	T	1: 38,871,702	V123D	probably damaging	Het
Cobll1	T	C	2: 65,098,279	H938R	probably damaging	Het
Creld2	G	A	15: 88,820,631	W103*	probably null	Het
Dmkn	T	G	7: 30,765,051	C205G	probably damaging	Het
Dock8	A	G	19: 25,051,503	I24V	probably benign	Het
Dpp3	C	T	19: 4,914,923	W488*	probably null	Het
Dpp9	C	A	17: 56,199,426	A365S	possibly damaging	Het
Egfr	A	T	11: 16,883,546	T605S	probably benign	Het
Eme2	G	A	17: 24,892,918	S263F	probably damaging	Het
Fam83g	T	C	11: 61,703,436	S599P	probably damaging	Het
Fscn1	G	T	5: 142,960,843	W132L	probably damaging	Het
Gbp2b	A	G	3: 142,599,096	T98A	probably damaging	Het
Gm13088	A	G	4: 143,656,634	L5P	probably damaging	Het
Gm4922	C	T	10: 18,783,721	A418T	possibly damaging	Het
Golgb1	G	T	16: 36,916,126	V1912L	possibly damaging	Het
Gon4l	T	C	3: 88,892,535	L829P	probably damaging	Het
Grm3	T	A	5: 9,570,738	I169L	probably benign	Het
Gsdma2	A	G	11: 98,650,858	D137G	probably damaging	Het
Hhip	T	C	8: 79,992,476	Y474C	probably damaging	Het
Hsph1	A	T	5: 149,630,801	V163E	probably damaging	Het
Ifi203	T	C	1: 173,924,137	K373E	probably damaging	Het
Itsn2	A	G	12: 4,712,009	T1540A	probably benign	Het
Kdm1b	T	C	13: 47,071,922	V527A	probably benign	Het
Kdm5d	G	A	Y: 898,029	A22T	probably benign	Het
Khdrbs1	A	T	4: 129,725,586	F254Y	possibly damaging	Het
Kif26a	T	C	12: 112,179,945	F1822L	probably benign	Het
Krt1	C	A	15: 101,848,165	E308*	probably null	Het
Lrrc47	T	A	4: 154,011,817	M1K	probably null	Het
Mrgpra4	A	T	7: 47,981,476	W126R	probably damaging	Het
Olfr1100	A	G	2: 86,978,676	L40P	probably damaging	Het
Olfr1258	G	T	2: 89,930,105	V99F	possibly damaging	Het
Olfr1446	T	A	19: 12,890,149	T143S	probably benign	Het
Olfr201	A	G	16: 59,269,155	S171P	probably benign	Het
Olfr206	A	T	16: 59,345,062	I213N	probably damaging	Het
Olfr228	A	T	2: 86,483,238	F168Y	probably damaging	Het
Olfr364-ps1	A	T	2: 37,147,027	T272S	probably damaging	Het
Olfr453	G	A	6: 42,744,123	V29I	probably benign	Het
Olfr798	A	G	10: 129,625,647	V138A	possibly damaging	Het
Plec	G	T	15: 76,183,838	N1190K	possibly damaging	Het
Plin1	T	C	7: 79,729,971	T44A	probably damaging	Het
Pou3f2	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	4: 22,487,697		probably benign	Het
Psg27	A	G	7: 18,565,309	L29P	probably damaging	Het
Psmd13	C	A	7: 140,897,454	T292N	probably damaging	Het
Rab1b	A	T	19: 5,104,656	Y88*	probably null	Het
Reln	T	A	5: 21,899,029	I3315L	probably benign	Het
Rmdn2	A	T	17: 79,659,451	M257L	probably benign	Het
Rnd1	A	T	15: 98,676,554	F47L	probably damaging	Het
Rnf41	G	A	10: 128,438,207	V243I	probably benign	Het
Rnf43	C	G	11: 87,729,513	S226R	probably damaging	Het
Scn5a	A	T	9: 119,533,927	D542E	probably damaging	Het
Sema5b	A	T	16: 35,628,096	I81F	probably benign	Het
Serinc5	G	A	13: 92,682,777	C73Y	probably damaging	Het
Serpina3g	A	T	12: 104,239,292	N97Y	possibly damaging	Het
Shq1	A	G	6: 100,637,072	S262P	probably damaging	Het
Smad4	A	T	18: 73,648,907	I428N	probably damaging	Het
Snip1	G	T	4: 125,072,820	G348W	probably damaging	Het
Spg11	A	G	2: 122,070,941	L1506P	probably damaging	Het
Stard9	G	A	2: 120,696,213	V984I	possibly damaging	Het
Svopl	A	T	6: 38,029,700	F121I	possibly damaging	Het
Tjp1	A	T	7: 65,323,054	V546E	probably damaging	Het
Tmem116	T	A	5: 121,493,756	F110L	probably damaging	Het
Ttyh2	C	T	11: 114,710,888	T446M	probably benign	Het
Tubb1	A	T	2: 174,457,739	I405L	probably benign	Het
Uba5	A	T	9: 104,055,826	F155L	possibly damaging	Het
Ubd	C	T	17: 37,195,321	H33Y	probably damaging	Het
Ube2cbp	A	T	9: 86,440,595	D175E	probably benign	Het
Usp24	A	G	4: 106,420,960	Q2293R	probably benign	Het
Vmn1r175	T	A	7: 23,808,512	H230L	probably benign	Het
Vmn1r88	A	G	7: 13,178,133	I139V	probably benign	Het
Vmn2r1	T	C	3: 64,086,625	F131L	probably benign	Het
Yipf3	T	C	17: 46,251,229		probably null	Het
Zdhhc19	A	G	16: 32,506,440	K192R	probably benign	Het
Zfy1	G	A	Y: 725,611	T718I	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
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
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
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

Posted On

2014-01-15