Mutagenetix > Incidental Mutation

Incidental Mutation 'R9325:Nlrp4e'

706460

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9325 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 23321330 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 414 (A414G)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

probably benign
Transcript: ENSMUST00000076470
AA Change: A414G

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

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: A414G

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,669,619	D1076G	possibly damaging	Het
Adamts9	T	C	6: 92,872,298	D1060G	probably benign	Het
Ahnak	T	A	19: 9,013,893	D4180E	probably benign	Het
Ank2	A	C	3: 126,981,855	F42V	probably damaging	Het
Ankib1	A	G	5: 3,772,523	I61T	possibly damaging	Het
Arhgap9	T	C	10: 127,325,853	S238P	probably damaging	Het
Bpifa3	A	T	2: 154,133,680	I57F	probably damaging	Het
C130079G13Rik	T	A	3: 59,936,441	N185K	probably benign	Het
Cdh17	A	G	4: 11,810,319	Y670C	probably damaging	Het
Ceacam20	C	A	7: 19,986,682	R515S	probably benign	Het
Cers5	A	T	15: 99,739,457	V274E	probably damaging	Het
Clip1	T	C	5: 123,613,123	D865G		Het
Cnih3	G	A	1: 181,353,507		probably null	Het
Coro2b	G	T	9: 62,489,327	H44N	probably benign	Het
Cuta	A	G	17: 26,939,315		probably null	Het
Dchs1	T	C	7: 105,766,195	I625V	possibly damaging	Het
Ddx4	A	T	13: 112,599,907	F643Y	probably damaging	Het
Dlc1	A	T	8: 36,571,364	V1020E	possibly damaging	Het
Dnah1	G	T	14: 31,276,203	T2559K	possibly damaging	Het
Eng	C	T	2: 32,671,433	A152V	probably damaging	Het
F7	G	T	8: 13,033,430	R190L	probably benign	Het
Fcgr4	T	C	1: 171,020,142	V103A	probably damaging	Het
Fer1l4	C	T	2: 156,036,014	V1005I	probably damaging	Het
Fmod	A	T	1: 134,040,633	H137L	probably damaging	Het
Fndc7	T	C	3: 108,883,518	D64G	possibly damaging	Het
Gm13119	A	G	4: 144,362,523	H137R	probably benign	Het
Gucy2c	A	T	6: 136,766,994	C202*	probably null	Het
Hspg2	C	T	4: 137,538,241	R1783W	probably damaging	Het
Hyal6	T	A	6: 24,743,456	S384T	probably damaging	Het
Igsf21	T	A	4: 140,067,155	I136F	probably damaging	Het
Isl1	A	G	13: 116,299,569	S321P	probably damaging	Het
Kif5c	A	G	2: 49,749,366	K813R	probably benign	Het
Klk7	A	G	7: 43,812,013	E18G	possibly damaging	Het
Lox	T	C	18: 52,528,328	M225V	probably benign	Het
Lrrfip2	T	A	9: 111,161,361	M50K	possibly damaging	Het
Lrrn2	A	T	1: 132,937,503	Q102L	probably damaging	Het
Mcm3	T	C	1: 20,805,338	R692G	probably benign	Het
Mmp14	T	C	14: 54,438,791	V326A	probably damaging	Het
Muc2	G	A	7: 141,744,822	M70I		Het
Nefl	T	C	14: 68,085,011		probably null	Het
Nup188	T	A	2: 30,322,259	L586Q	probably damaging	Het
Olfr1124	G	A	2: 87,434,946	G153D	possibly damaging	Het
Olfr891	T	C	9: 38,180,031	D264G	probably benign	Het
Pik3c2a	A	T	7: 116,391,323	D467E	probably damaging	Het
Polr2g	T	A	19: 8,797,305	K71N	probably benign	Het
Prkci	A	G	3: 31,031,184	K184R	probably damaging	Het
Prr15	G	A	6: 54,329,152		probably benign	Het
Rin2	T	A	2: 145,885,899	N896K	probably benign	Het
Ryr3	T	C	2: 112,649,295	E4414G	probably damaging	Het
Slc4a4	T	A	5: 89,228,897	D994E	probably damaging	Het
Slc6a4	C	A	11: 77,019,173	P418Q	probably benign	Het
Smarcc2	T	A	10: 128,488,207	M1138K	unknown	Het
Snph	C	T	2: 151,594,288	R240Q	probably damaging	Het
Stox2	T	A	8: 47,194,060	T122S	probably benign	Het
Tmem131l	T	C	3: 83,910,461	D1244G	probably benign	Het
Tmem168	T	C	6: 13,583,254	I543V	probably benign	Het
Tyw1	T	C	5: 130,262,921	S77P	probably damaging	Het
Usp36	T	G	11: 118,269,205	D471A	possibly damaging	Het
Vmn2r102	A	G	17: 19,677,296	Y191C	probably damaging	Het
Vmn2r104	T	C	17: 20,048,171	Q12R	possibly damaging	Het
Zfp820	A	T	17: 21,819,399	I316N	probably damaging	Het
Zscan4-ps3	T	C	7: 11,610,300	F62L	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
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
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

2022-04-18