Mutagenetix > Incidental Mutation

Incidental Mutation 'R8445:Nlrp4e'

654448

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

067886-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8445 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23340540 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 763 (I763L)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

probably benign
Transcript: ENSMUST00000076470
AA Change: I763L

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

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: I763L

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	T	G	9: 70,766,921	S522A	probably benign	Het
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Alg12	C	T	15: 88,814,486	R212Q	probably benign	Het
C330018D20Rik	G	A	18: 56,957,890	P67L	probably damaging	Het
Col3a1	C	T	1: 45,341,180	R955*	probably null	Het
Cyp2j12	T	A	4: 96,133,022	I116F	possibly damaging	Het
Cyp4a10	T	A	4: 115,525,594	W331R	probably damaging	Het
Dmbt1	T	A	7: 131,090,380	Y959N	unknown	Het
Dytn	T	A	1: 63,647,514	K332N	probably benign	Het
E130308A19Rik	T	A	4: 59,720,526	V686D	probably damaging	Het
Epha8	T	C	4: 136,932,289	Y792C	probably benign	Het
Fam53c	T	C	18: 34,768,315	V95A	probably benign	Het
Fbxl4	C	A	4: 22,385,983	Q197K	probably benign	Het
Fmod	G	A	1: 134,040,998	V259I	probably benign	Het
Insrr	T	C	3: 87,813,584	S1050P	probably damaging	Het
Itga4	A	G	2: 79,281,781	M347V	probably benign	Het
Kdm5d	A	G	Y: 916,874	E423G	probably damaging	Het
Klra7	A	T	6: 130,227,115	I147N	possibly damaging	Het
Lbx1	T	A	19: 45,234,212	K124I	probably damaging	Het
Map4k5	T	A	12: 69,850,967	H138L	probably damaging	Het
Mc3r	A	G	2: 172,249,317	H153R	probably damaging	Het
Myh15	C	A	16: 49,120,018	T777N	probably damaging	Het
Nfatc4	A	C	14: 55,826,418	I121L	possibly damaging	Het
Nipa1	A	T	7: 55,979,718	S216T	probably benign	Het
Nop2	A	G	6: 125,134,604	D100G	probably benign	Het
Olfr437	A	G	6: 43,167,297	M80V	probably benign	Het
Olfr870	T	A	9: 20,171,098	I158L	probably benign	Het
Prelid3a	A	G	18: 67,473,778	E80G	probably damaging	Het
Prl4a1	T	C	13: 28,021,462	S137P	possibly damaging	Het
Rbpms2	C	T	9: 65,651,021	A113V	possibly damaging	Het
Rph3a	T	C	5: 120,973,370	E49G	probably damaging	Het
Shisa7	A	T	7: 4,836,353	M124K	probably benign	Het
Shprh	C	T	10: 11,181,569	P1078S	possibly damaging	Het
Slc30a7	C	T	3: 116,007,346		probably benign	Het
Smarca4	CGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGG	9: 21,700,943		probably benign	Het
Smg1	A	C	7: 118,136,977	N3563K	possibly damaging	Het
Spata31d1c	G	T	13: 65,033,177	S30I	probably damaging	Het
St6galnac6	A	G	2: 32,608,520		probably benign	Het
Tcp11l1	C	A	2: 104,681,933	E451D	probably benign	Het
Tfpt	G	A	7: 3,620,929	P160S	probably damaging	Het
Thbs4	C	A	13: 92,790,841	A47S	probably benign	Het
Trpm2	T	C	10: 77,910,252	D1482G	probably damaging	Het
Tspyl4	C	T	10: 34,297,746	A78V	probably benign	Het
Vmn2r26	A	G	6: 124,026,036	N135S	probably damaging	Het
Vmn2r87	A	T	10: 130,477,466	V477E	probably damaging	Het
Wdr89	T	C	12: 75,632,862	D206G	probably damaging	Het
Zfp623	C	A	15: 75,947,553	Y119*	probably null	Het
Zfp879	A	G	11: 50,833,386	M281T	probably damaging	Het
Zfp952	T	G	17: 33,003,578	F344V	possibly damaging	Het
Zgrf1	T	C	3: 127,586,205		probably null	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
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'- CTCAAACCTTCATGGGAATAGCAAG -3'
(R):5'- CTTGAGCTCTAAGACCCACC -3'

Sequencing Primer
(F):5'- TTCATGGGAATAGCAAGGAAAAATTG -3'
(R):5'- CAGCTCTGTGGTTGCAGACATC -3'

Posted On

2020-10-20