Mutagenetix > Incidental Mutation

Incidental Mutation 'R4486:Nlrp4e'

331614

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

041742-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4486 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23000617-23061702 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23020652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 380 (I380V)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

probably benign
Transcript: ENSMUST00000076470
AA Change: I380V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: I380V

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: 97.0%
20x: 94.7%

Validation Efficiency

94% (45/48)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,062,486 (GRCm39)	V484A	probably damaging	Het
Adam22	A	T	5: 8,230,227 (GRCm39)		probably benign	Het
Adamts18	G	T	8: 114,439,825 (GRCm39)	P923T	probably benign	Het
Ank3	C	T	10: 69,837,804 (GRCm39)	T1604I	possibly damaging	Het
Armc10	A	G	5: 21,858,432 (GRCm39)	Q159R	probably damaging	Het
Arnt2	T	A	7: 83,924,553 (GRCm39)	T425S	probably benign	Het
B4galt3	A	G	1: 171,099,343 (GRCm39)	T36A	possibly damaging	Het
Bbx	A	G	16: 50,020,777 (GRCm39)	V799A	probably damaging	Het
Bud23	T	C	5: 135,092,779 (GRCm39)		probably null	Het
Cnga2	T	A	X: 71,049,733 (GRCm39)	F133I	possibly damaging	Het
Crispld1	A	G	1: 17,823,102 (GRCm39)	T390A	probably benign	Het
Cyp4f39	T	A	17: 32,702,428 (GRCm39)	D308E	probably damaging	Het
Dnah6	A	G	6: 73,015,729 (GRCm39)	V3584A	probably damaging	Het
Ecpas	A	G	4: 58,820,086 (GRCm39)		probably benign	Het
Frk	T	C	10: 34,484,377 (GRCm39)	I450T	probably benign	Het
Grm6	T	C	11: 50,750,816 (GRCm39)	S660P	probably damaging	Het
Hao2	T	A	3: 98,789,341 (GRCm39)	I116F	probably damaging	Het
Hyi	G	A	4: 118,219,674 (GRCm39)	G237D	probably damaging	Het
Jrkl	T	C	9: 13,245,376 (GRCm39)	N95S	probably benign	Het
Kifbp	A	G	10: 62,398,806 (GRCm39)		probably benign	Het
Nanog	T	C	6: 122,689,676 (GRCm39)		probably null	Het
Ngf	G	A	3: 102,428,015 (GRCm39)	D255N	probably damaging	Het
Or52e7	T	C	7: 104,684,510 (GRCm39)	F35S	probably benign	Het
Or6c76b	T	C	10: 129,692,567 (GRCm39)	F60S	probably damaging	Het
Pcdha3	T	C	18: 37,080,404 (GRCm39)	V382A	probably damaging	Het
Pla2g4c	T	A	7: 13,071,676 (GRCm39)	N165K	probably benign	Het
Rexo5	T	C	7: 119,424,800 (GRCm39)	I362T	probably benign	Het
Rpl7a-ps3	G	A	15: 36,308,429 (GRCm39)		noncoding transcript	Het
Rpusd2	T	C	2: 118,865,705 (GRCm39)	V134A	probably damaging	Het
Serpina1c	T	A	12: 103,863,259 (GRCm39)		probably null	Het
Slc6a19	A	T	13: 73,829,836 (GRCm39)	I606N	probably damaging	Het
Smchd1	T	C	17: 71,714,230 (GRCm39)	T878A	probably benign	Het
Tas2r143	A	G	6: 42,377,628 (GRCm39)	M153V	probably benign	Het
Thrb	G	T	14: 17,925,640 (GRCm38)	M1I	probably null	Het
Trbc2	A	G	6: 41,523,814 (GRCm39)		probably benign	Het
Trim37	T	A	11: 87,087,651 (GRCm39)	S587R	probably benign	Het
Ulbp1	T	A	10: 7,397,397 (GRCm39)	H151L	probably benign	Het
Vmn2r54	A	T	7: 12,366,199 (GRCm39)	L245*	probably null	Het
Vmn2r78	A	C	7: 86,569,959 (GRCm39)		probably null	Het
Xlr5b	T	C	X: 72,201,504 (GRCm39)		probably null	Het
Xrcc4	A	C	13: 90,140,707 (GRCm39)	S167R	possibly damaging	Het
Zfp994	C	T	17: 22,420,541 (GRCm39)	C136Y	probably damaging	Het

Other mutations in Nlrp4e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Nlrp4e	APN	7	23,042,565 (GRCm39)	missense	probably damaging	1.00
IGL00833:Nlrp4e	APN	7	23,039,896 (GRCm39)	missense	probably benign	0.00
IGL01017:Nlrp4e	APN	7	23,021,092 (GRCm39)	missense	possibly damaging	0.93
IGL01025:Nlrp4e	APN	7	23,052,586 (GRCm39)	splice site	probably benign
IGL01815:Nlrp4e	APN	7	23,020,863 (GRCm39)	missense	probably benign	0.02
IGL01924:Nlrp4e	APN	7	23,020,255 (GRCm39)	nonsense	probably null
IGL02245:Nlrp4e	APN	7	23,020,300 (GRCm39)	missense	probably damaging	1.00
IGL02745:Nlrp4e	APN	7	23,020,716 (GRCm39)	missense	probably damaging	1.00
IGL02746:Nlrp4e	APN	7	23,021,264 (GRCm39)	missense	probably benign	0.00
IGL02987:Nlrp4e	APN	7	23,000,858 (GRCm39)	missense	probably damaging	1.00
IGL02997:Nlrp4e	APN	7	23,000,799 (GRCm39)	missense	probably benign	0.04
IGL03193:Nlrp4e	APN	7	23,020,251 (GRCm39)	missense	probably damaging	1.00
IGL03304:Nlrp4e	APN	7	23,052,768 (GRCm39)	critical splice donor site	probably null
IGL03352:Nlrp4e	APN	7	23,020,251 (GRCm39)	missense	probably damaging	1.00
R0389:Nlrp4e	UTSW	7	23,054,628 (GRCm39)	missense	probably damaging	0.98
R1028:Nlrp4e	UTSW	7	23,021,169 (GRCm39)	missense	probably damaging	1.00
R1163:Nlrp4e	UTSW	7	23,020,397 (GRCm39)	missense	probably benign	0.03
R1269:Nlrp4e	UTSW	7	23,052,763 (GRCm39)	missense	possibly damaging	0.95
R1400:Nlrp4e	UTSW	7	23,021,085 (GRCm39)	missense	possibly damaging	0.93
R1497:Nlrp4e	UTSW	7	23,019,797 (GRCm39)	missense	probably benign	0.00
R1518:Nlrp4e	UTSW	7	23,021,268 (GRCm39)	missense	probably benign	0.33
R1716:Nlrp4e	UTSW	7	23,020,458 (GRCm39)	missense	possibly damaging	0.56
R1727:Nlrp4e	UTSW	7	23,020,420 (GRCm39)	missense	probably benign	0.01
R1998:Nlrp4e	UTSW	7	23,020,671 (GRCm39)	missense	probably benign	0.00
R2177:Nlrp4e	UTSW	7	23,054,686 (GRCm39)	missense	probably benign	0.00
R3724:Nlrp4e	UTSW	7	23,020,802 (GRCm39)	missense	probably benign	0.28
R3767:Nlrp4e	UTSW	7	23,039,988 (GRCm39)	missense	probably damaging	1.00
R3795:Nlrp4e	UTSW	7	23,020,228 (GRCm39)	missense	probably benign	0.35
R4387:Nlrp4e	UTSW	7	23,020,652 (GRCm39)	missense	probably benign	0.01
R4387:Nlrp4e	UTSW	7	23,000,902 (GRCm39)	missense	probably benign	0.00
R4388:Nlrp4e	UTSW	7	23,020,652 (GRCm39)	missense	probably benign	0.01
R4388:Nlrp4e	UTSW	7	23,000,902 (GRCm39)	missense	probably benign	0.00
R4389:Nlrp4e	UTSW	7	23,020,652 (GRCm39)	missense	probably benign	0.01
R4403:Nlrp4e	UTSW	7	23,020,888 (GRCm39)	nonsense	probably null
R4444:Nlrp4e	UTSW	7	23,020,652 (GRCm39)	missense	probably benign	0.01
R4547:Nlrp4e	UTSW	7	23,036,291 (GRCm39)	missense	probably benign	0.00
R4553:Nlrp4e	UTSW	7	23,020,404 (GRCm39)	missense	probably benign
R4666:Nlrp4e	UTSW	7	23,036,205 (GRCm39)	nonsense	probably null
R4721:Nlrp4e	UTSW	7	23,020,521 (GRCm39)	missense	possibly damaging	0.84
R4728:Nlrp4e	UTSW	7	23,020,989 (GRCm39)	missense	probably benign
R4758:Nlrp4e	UTSW	7	23,020,043 (GRCm39)	missense	probably benign	0.17
R4775:Nlrp4e	UTSW	7	23,042,525 (GRCm39)	missense	probably benign	0.14
R4830:Nlrp4e	UTSW	7	23,036,165 (GRCm39)	missense	probably benign	0.03
R4954:Nlrp4e	UTSW	7	23,061,318 (GRCm39)	nonsense	probably null
R5277:Nlrp4e	UTSW	7	23,020,863 (GRCm39)	missense	probably benign	0.02
R5352:Nlrp4e	UTSW	7	23,052,598 (GRCm39)	missense	probably benign	0.26
R5521:Nlrp4e	UTSW	7	23,021,190 (GRCm39)	missense	probably benign	0.00
R5528:Nlrp4e	UTSW	7	23,036,316 (GRCm39)	missense	probably benign	0.07
R5537:Nlrp4e	UTSW	7	23,019,914 (GRCm39)	missense	probably benign	0.00
R5584:Nlrp4e	UTSW	7	23,020,602 (GRCm39)	missense	probably benign
R5683:Nlrp4e	UTSW	7	23,052,697 (GRCm39)	missense	probably damaging	0.99
R6160:Nlrp4e	UTSW	7	23,020,731 (GRCm39)	missense	probably damaging	0.99
R6313:Nlrp4e	UTSW	7	23,052,597 (GRCm39)	missense	probably benign
R6427:Nlrp4e	UTSW	7	23,020,058 (GRCm39)	missense	possibly damaging	0.48
R6647:Nlrp4e	UTSW	7	23,020,740 (GRCm39)	missense	probably benign	0.00
R6929:Nlrp4e	UTSW	7	23,036,156 (GRCm39)	critical splice acceptor site	probably null
R7307:Nlrp4e	UTSW	7	23,020,953 (GRCm39)	missense	probably benign	0.07
R7792:Nlrp4e	UTSW	7	23,021,182 (GRCm39)	missense	possibly damaging	0.60
R8169:Nlrp4e	UTSW	7	23,019,931 (GRCm39)	missense	probably benign	0.06
R8445:Nlrp4e	UTSW	7	23,039,965 (GRCm39)	missense	probably benign	0.00
R8487:Nlrp4e	UTSW	7	23,020,983 (GRCm39)	missense	probably benign	0.00
R8906:Nlrp4e	UTSW	7	23,020,556 (GRCm39)	missense	possibly damaging	0.88
R9124:Nlrp4e	UTSW	7	23,020,403 (GRCm39)	missense	probably benign
R9167:Nlrp4e	UTSW	7	23,039,951 (GRCm39)	missense	probably benign	0.00
R9181:Nlrp4e	UTSW	7	23,061,270 (GRCm39)	nonsense	probably null
R9219:Nlrp4e	UTSW	7	23,020,941 (GRCm39)	missense	possibly damaging	0.50
R9229:Nlrp4e	UTSW	7	23,020,799 (GRCm39)	missense	probably benign	0.00
R9321:Nlrp4e	UTSW	7	23,020,755 (GRCm39)	missense	probably benign
R9323:Nlrp4e	UTSW	7	23,020,755 (GRCm39)	missense	probably benign
R9325:Nlrp4e	UTSW	7	23,020,755 (GRCm39)	missense	probably benign
R9379:Nlrp4e	UTSW	7	23,020,755 (GRCm39)	missense	probably benign
R9380:Nlrp4e	UTSW	7	23,020,755 (GRCm39)	missense	probably benign
R9448:Nlrp4e	UTSW	7	23,000,956 (GRCm39)	missense	probably benign
R9523:Nlrp4e	UTSW	7	23,054,636 (GRCm39)	missense	probably benign	0.00
R9593:Nlrp4e	UTSW	7	23,020,197 (GRCm39)	missense	probably benign	0.19
X0022:Nlrp4e	UTSW	7	23,042,544 (GRCm39)	missense	probably damaging	1.00
X0025:Nlrp4e	UTSW	7	23,042,603 (GRCm39)	missense	possibly damaging	0.91
X0026:Nlrp4e	UTSW	7	23,054,648 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- GAACCCAGGAAATTTTCAGTTTGG -3'
(R):5'- ACCTCCTGGATAGATGGGTG -3'

Sequencing Primer
(F):5'- TTTCAGTTTGGTGAGAGAAAATGAGC -3'
(R):5'- GCTCTTTTCAAGGATCCTTACG -3'

Posted On

2015-07-21