Mutagenetix > Incidental Mutations

Incidental Mutation 'R4728:Nlrp4e'

358600

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

042020-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4728 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23321564 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 492 (I492K)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

probably benign
Transcript: ENSMUST00000076470
AA Change: I492K

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

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: I492K

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

94% (73/78)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bicc1	C	T	10: 70,935,831		probably null	Het
Bpifc	T	A	10: 85,991,199	H162L	possibly damaging	Het
Ccdc163	C	T	4: 116,709,012		probably benign	Het
Cldn12	A	G	5: 5,508,385	F14S	probably damaging	Het
Cyth4	G	A	15: 78,602,713	G14R	probably benign	Het
Ddhd2	C	T	8: 25,752,267	V194I	probably damaging	Het
Ddx23	A	T	15: 98,650,225	V433E	probably damaging	Het
Defb34	A	G	8: 19,126,418	N42D	possibly damaging	Het
Dennd6a	A	G	14: 26,627,420	E313G	probably null	Het
Dhx30	A	G	9: 110,087,650	F570S	probably damaging	Het
Dnah3	T	C	7: 120,059,366	E864G	probably damaging	Het
Eps8	G	A	6: 137,509,162	Q451*	probably null	Het
Fmo9	A	T	1: 166,663,311	Y533N	possibly damaging	Het
Fut8	T	A	12: 77,475,199	D537E	probably damaging	Het
Gm5407	T	C	16: 49,296,920		noncoding transcript	Het
Gm9916	A	G	3: 118,435,041		noncoding transcript	Het
Grm5	T	A	7: 87,975,288	F354L	probably damaging	Het
Hira	C	T	16: 18,922,904	A353V	probably damaging	Het
Ifna4	C	A	4: 88,842,282	T141K	probably benign	Het
Igf1r	T	C	7: 68,189,624	L628P	probably damaging	Het
Kcnh5	A	T	12: 75,007,781	I463N	probably damaging	Het
Kcnh8	C	A	17: 52,725,870	Q62K	probably damaging	Het
Kif3c	A	T	12: 3,365,873		probably benign	Het
Kmo	A	G	1: 175,656,763	D353G	possibly damaging	Het
Lrp1	T	C	10: 127,563,737	T2301A	probably damaging	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,318,408		probably benign	Het
Map3k9	C	T	12: 81,722,373	R967Q	probably damaging	Het
Mcm8	A	G	2: 132,832,854	H414R	probably damaging	Het
Mier1	A	G	4: 103,140,205	E145G	probably damaging	Het
Mlc1	A	T	15: 88,978,031		probably null	Het
Napb	T	C	2: 148,709,325	D96G	probably damaging	Het
Nbas	T	A	12: 13,288,739	S193R	probably damaging	Het
Nlrp4a	T	C	7: 26,475,090	V967A	probably benign	Het
Notch4	A	G	17: 34,570,205	T497A	probably benign	Het
Npdc1	G	A	2: 25,408,945	D284N	probably damaging	Het
Ogdh	T	A	11: 6,342,549	Y417N	probably damaging	Het
Olfr1152	T	C	2: 87,868,435	V148A	probably benign	Het
Ovol1	A	T	19: 5,553,662	Y70*	probably null	Het
P2ry1	A	G	3: 61,004,220	Y260C	probably damaging	Het
Pcx	G	T	19: 4,603,096	R263L	probably damaging	Het
Pla2g4f	T	A	2: 120,300,921	T774S	probably benign	Het
Prdm15	T	G	16: 97,821,786	K289Q	probably benign	Het
Prl7c1	A	T	13: 27,776,285	H91Q	probably benign	Het
Prmt5	C	T	14: 54,507,907	R601H	probably benign	Het
Prrc2b	T	A	2: 32,230,625	D2192E	probably damaging	Het
Ptdss2	A	G	7: 141,154,459	I299V	probably benign	Het
Rbm28	A	G	6: 29,143,592	V354A	probably damaging	Het
Rps6kb1	G	C	11: 86,544,658		probably null	Het
Sema3f	A	G	9: 107,705,440	S35P	probably benign	Het
Serpina3n	A	T	12: 104,409,163	T165S	probably benign	Het
Serpinb13	C	T	1: 106,982,844	S66L	probably damaging	Het
Sh2d4b	T	A	14: 40,842,432	R267*	probably null	Het
Slc5a12	A	T	2: 110,644,424	K554*	probably null	Het
Snrnp200	T	C	2: 127,217,414	L409P	probably damaging	Het
Snrnp200	T	A	2: 127,227,878	V981E	possibly damaging	Het
Spon2	T	A	5: 33,217,338	R41S	probably benign	Het
Sptb	A	T	12: 76,583,379	M2279K	probably benign	Het
Srcap	T	G	7: 127,540,924		probably null	Het
Tctn3	A	G	19: 40,605,742	V409A	probably damaging	Het
Tg	A	C	15: 66,682,827	Q697P	probably damaging	Het
Tmem181a	A	G	17: 6,290,599	D141G	probably benign	Het
Tmem82	A	G	4: 141,614,652	S334P	probably benign	Het
Ubr4	A	G	4: 139,423,879	Y1875C	probably damaging	Het
Vmn1r63	C	A	7: 5,803,363	R90L	probably damaging	Het
Zfp330	A	C	8: 82,770,846	Y56D	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
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'- TGCTGGACGTAAGGATCCTTG -3'
(R):5'- AAGAAGGCTTCATCGTCCATC -3'

Sequencing Primer
(F):5'- CTGGACGTAAGGATCCTTGAAAAG -3'
(R):5'- GGCTTCATCGTCCATCTCAAACAG -3'

Posted On

2015-11-11