Mutagenetix > Incidental Mutations

Incidental Mutation 'R1400:Nlrp4e'

160327

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

039462-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1400 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23321660 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 524 (E524V)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076470
AA Change: E524V

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: E524V

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: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	G	T	9: 92,351,127	C25F	probably benign	Het
9130008F23Rik	T	C	17: 40,880,304	E78G	probably damaging	Het
Acsf2	T	C	11: 94,570,316	I345V	probably benign	Het
Akap11	T	A	14: 78,513,962	K328N	probably damaging	Het
Aoc1	A	T	6: 48,906,711	Q507L	probably benign	Het
Aoc1	T	A	6: 48,906,283	Y364*	probably null	Het
Atp6v1c2	T	C	12: 17,289,130	T207A	probably benign	Het
Atr	C	A	9: 95,862,848	Q73K	probably benign	Het
Cage1	A	G	13: 38,032,424	S17P	possibly damaging	Het
Cfap44	A	T	16: 44,421,212	I649F	probably benign	Het
Cops4	A	G	5: 100,533,546	K200R	probably damaging	Het
Crygd	A	G	1: 65,063,208	S32P	probably damaging	Het
Cyp3a11	A	G	5: 145,862,489	I296T	probably damaging	Het
Fads3	A	G	19: 10,056,300		probably null	Het
Fbn2	T	C	18: 58,080,193	E974G	possibly damaging	Het
Gcgr	A	G	11: 120,534,986	H45R	probably benign	Het
Gcn1l1	T	C	5: 115,614,161	I2112T	probably damaging	Het
Gm43302	A	T	5: 105,274,756	I470N	probably damaging	Het
Hoxa13	G	C	6: 52,260,648		probably benign	Het
Hoxa13	C	G	6: 52,260,647		probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Krt13	C	A	11: 100,121,284	G71V	probably damaging	Het
Las1l	T	C	X: 95,946,900	T390A	possibly damaging	Het
Lifr	T	A	15: 7,190,865	V992E	probably benign	Het
Mbd5	T	C	2: 49,274,776		probably null	Het
Mzf1	C	A	7: 13,052,771	R124L	possibly damaging	Het
Ndst3	A	G	3: 123,556,828	F636S	probably damaging	Het
Necab1	T	C	4: 14,975,185	D232G	possibly damaging	Het
Nxf3	T	A	X: 136,076,045	T349S	probably benign	Het
Ofcc1	C	T	13: 40,208,829	G206R	probably benign	Het
Olfr1013	T	C	2: 85,770,133	C111R	possibly damaging	Het
Olfr1259	T	A	2: 89,943,542	H191L	possibly damaging	Het
Olfr722	A	T	14: 49,895,691	I37K	possibly damaging	Het
Olfr847	A	G	9: 19,375,062	V273A	probably damaging	Het
Ppm1e	T	A	11: 87,231,766	N455I	probably damaging	Het
Prkag2	G	A	5: 24,873,918	T158I	probably damaging	Het
Ptpn18	T	C	1: 34,463,506		probably null	Het
Rai14	T	G	15: 10,571,548	K936N	probably damaging	Het
Rasgrf2	A	G	13: 91,887,689	L1077P	probably damaging	Het
Rgn	C	A	X: 20,550,457	Q27K	probably benign	Het
Ryr2	C	T	13: 11,595,076	S723N	probably benign	Het
Scamp1	A	G	13: 94,224,947	F142L	possibly damaging	Het
Selenon	A	G	4: 134,551,518	V67A	probably benign	Het
Slc5a5	T	C	8: 70,889,435	I292V	possibly damaging	Het
Smarca2	C	A	19: 26,676,740	T775K	probably damaging	Het
Stab1	C	T	14: 31,139,830	V2437I	possibly damaging	Het
Tas2r143	C	T	6: 42,400,383	A49V	probably benign	Het
Tlr7	T	A	X: 167,307,849	N214Y	probably damaging	Het
Unc13a	C	A	8: 71,651,221	D856Y	probably damaging	Het
Upp2	T	C	2: 58,790,106	Y263H	probably damaging	Het
Vill	T	C	9: 119,063,347	S349P	probably benign	Het
Zfp644	T	C	5: 106,637,470		probably null	Het
Zfp664	T	C	5: 124,886,153	C204R	unknown	Het
Zfp729b	A	G	13: 67,592,794	Y451H	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
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
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'- CCAGTCTCAATCTGCCGACGTATC -3'
(R):5'- GCAGTGGGCAGCAACAATAACATC -3'

Sequencing Primer
(F):5'- GGGATCATGGACTCTGATATCTCC -3'
(R):5'- ATAACATCAGAATAATCCTTAGCCAC -3'

Posted On

2014-03-14