Mutagenetix > Incidental Mutation

Incidental Mutation 'R5537:Nlrp4e'

434873

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

043095-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5537 (G1)

Quality Score

149

Status

Not validated

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23320489 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 134 (F134L)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

probably benign
Transcript: ENSMUST00000076470
AA Change: F134L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: F134L

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: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,955,485	I1123F	probably damaging	Het
Acsl3	C	T	1: 78,706,356	R702C	probably damaging	Het
Ank1	A	G	8: 23,114,876	E1031G	probably damaging	Het
Ankle2	T	C	5: 110,249,495	S536P	probably damaging	Het
Arfgef2	G	T	2: 166,856,593		probably null	Het
Bahd1	G	T	2: 118,915,980	D27Y	probably damaging	Het
Brinp2	C	T	1: 158,255,013	V246I	probably damaging	Het
Ccdc187	C	A	2: 26,276,225	A731S	probably benign	Het
Cdc37l1	T	A	19: 28,995,118	N70K	probably damaging	Het
Cdk5r1	A	G	11: 80,477,999	Y164C	probably damaging	Het
Clrn3	A	T	7: 135,514,062	H186Q	probably benign	Het
Col12a1	G	A	9: 79,699,590	T517I	probably damaging	Het
Crhr1	T	A	11: 104,163,856	N98K	possibly damaging	Het
Dst	C	T	1: 34,189,878	S2362L	probably benign	Het
Eapp	G	A	12: 54,692,059	T98I	probably benign	Het
Gm8394	A	G	10: 85,314,049		noncoding transcript	Het
Iqsec3	T	C	6: 121,412,644		probably benign	Het
Kctd12	A	G	14: 102,982,277	V55A	probably benign	Het
Kmt2d	G	A	15: 98,852,109		probably benign	Het
Lgr5	T	C	10: 115,456,689	D432G	probably benign	Het
Mrgprx1	T	A	7: 48,021,150	H283L	probably benign	Het
Olfr1030	T	A	2: 85,984,226	Y129N	possibly damaging	Het
Olfr1307	A	T	2: 111,945,048	M136K	probably damaging	Het
Olfr394	T	C	11: 73,887,697	K225R	probably benign	Het
Olfr902	T	A	9: 38,449,242	Y123*	probably null	Het
Pfkp	C	A	13: 6,619,242	W235L	probably damaging	Het
Prom1	C	T	5: 44,000,776		probably null	Het
Rab14	A	T	2: 35,192,637	F12L	possibly damaging	Het
Rnf40	T	A	7: 127,596,089	I429N	probably benign	Het
S100pbp	G	A	4: 129,182,188	P115S	probably benign	Het
Scarf1	G	A	11: 75,525,531	A600T	probably damaging	Het
Slc6a5	T	C	7: 49,959,311	F755L	probably benign	Het
Slc7a2	A	T	8: 40,913,986	I510F	probably benign	Het
Spag16	T	C	1: 69,827,016	S5P	probably benign	Het
Tex15	A	G	8: 33,571,613	Y631C	probably damaging	Het
Tmem182	A	T	1: 40,854,909	I195F	probably benign	Het
Tox	A	G	4: 6,697,510	L431P	probably damaging	Het
Tprn	G	A	2: 25,263,357	A224T	probably benign	Het
Tsg101	T	C	7: 46,891,128	K294E	probably benign	Het
Tubb2a	C	A	13: 34,075,451	V119L	probably benign	Het
Vps37d	C	T	5: 135,074,402	E129K	possibly damaging	Het
Zfp974	TAATCTGTCTCCAAATCTG	TAATCTG	7: 27,912,246		probably benign	Het
Zpld1	A	G	16: 55,233,640	V263A	possibly 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
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
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

PCR Primer
(F):5'- AAGCTCTCTGTGGGTGAATG -3'
(R):5'- ATCAATTCTGCCAGGCTTGCTC -3'

Sequencing Primer
(F):5'- CTCTGTGGGTGAATGTTTAACTTAAC -3'
(R):5'- CTTCTTCACATCTTGACAGCAGAAG -3'

Posted On

2016-10-24