Mutagenetix > Incidental Mutation

Incidental Mutation 'R1028:Nlrp4e'

95036

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

039130-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1028 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23321744 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 552 (F552S)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

probably damaging
Transcript: ENSMUST00000076470
AA Change: F552S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: F552S

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: 98.5%
3x: 97.1%
10x: 91.8%
20x: 78.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak7	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	12: 105,710,189		probably benign	Het
Ano8	GCCTCCTCCTCCTCCTC	GCCTCCTCCTCCTC	8: 71,480,971		probably benign	Het
B3galt4	G	A	17: 33,950,839	R142C	probably damaging	Het
Bpifb9a	G	C	2: 154,262,407	E257Q	possibly damaging	Het
Cdh19	T	C	1: 110,954,584	I59M	probably benign	Het
Cmah	A	G	13: 24,435,662	D171G	probably damaging	Het
Colec12	T	C	18: 9,866,837	S683P	unknown	Het
Dixdc1	C	T	9: 50,703,246	A168T	probably benign	Het
Dpp6	A	G	5: 27,666,427	D461G	probably benign	Het
Entpd3	A	G	9: 120,558,361	H208R	probably benign	Het
Fuz	T	C	7: 44,896,926	I39T	probably damaging	Het
Gprin3	T	C	6: 59,354,609	N238D	possibly damaging	Het
Itpr3	G	T	17: 27,091,369	A403S	probably benign	Het
Mroh2a	G	A	1: 88,235,376	R376H	probably benign	Het
Mtor	G	C	4: 148,538,830	G2046R	possibly damaging	Het
Myh13	T	C	11: 67,356,181	S1243P	possibly damaging	Het
Net1	A	T	13: 3,884,375	C441S	probably damaging	Het
Olfr1297	A	T	2: 111,621,525	L183Q	probably damaging	Het
Olfr1387	G	A	11: 49,460,220	M180I	probably benign	Het
Olfr1504	C	A	19: 13,887,795	Q138H	probably damaging	Het
Ovch2	T	C	7: 107,796,548	I88V	probably benign	Het
Phf1	A	G	17: 26,934,333	T42A	possibly damaging	Het
Pkhd1	A	G	1: 20,117,726	Y3453H	probably damaging	Het
Rabgef1	T	G	5: 130,212,862	L369*	probably null	Het
Rufy1	A	T	11: 50,414,598		probably null	Het
Sec16b	T	C	1: 157,560,917	V618A	probably benign	Het
Sh3rf1	A	G	8: 61,393,787	R876G	possibly damaging	Het
Slc26a8	A	G	17: 28,672,798	Y126H	probably damaging	Het
Vwa8	C	T	14: 78,908,230	R116C	probably damaging	Het
Zp1	G	A	19: 10,918,911	T150I	probably benign	Het

Other mutations in Nlrp4e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Nlrp4e	APN	7	23,343,140 (GRCm38)	missense	probably damaging	1.00
IGL00833:Nlrp4e	APN	7	23,340,471 (GRCm38)	missense	probably benign	0.00
IGL01017:Nlrp4e	APN	7	23,321,667 (GRCm38)	missense	possibly damaging	0.93
IGL01025:Nlrp4e	APN	7	23,353,161 (GRCm38)	splice site	probably benign
IGL01815:Nlrp4e	APN	7	23,321,438 (GRCm38)	missense	probably benign	0.02
IGL01924:Nlrp4e	APN	7	23,320,830 (GRCm38)	nonsense	probably null
IGL02245:Nlrp4e	APN	7	23,320,875 (GRCm38)	missense	probably damaging	1.00
IGL02745:Nlrp4e	APN	7	23,321,291 (GRCm38)	missense	probably damaging	1.00
IGL02746:Nlrp4e	APN	7	23,321,839 (GRCm38)	missense	probably benign	0.00
IGL02987:Nlrp4e	APN	7	23,301,433 (GRCm38)	missense	probably damaging	1.00
IGL02997:Nlrp4e	APN	7	23,301,374 (GRCm38)	missense	probably benign	0.04
IGL03193:Nlrp4e	APN	7	23,320,826 (GRCm38)	missense	probably damaging	1.00
IGL03304:Nlrp4e	APN	7	23,353,343 (GRCm38)	critical splice donor site	probably null
IGL03352:Nlrp4e	APN	7	23,320,826 (GRCm38)	missense	probably damaging	1.00
R0389:Nlrp4e	UTSW	7	23,355,203 (GRCm38)	missense	probably damaging	0.98
R1163:Nlrp4e	UTSW	7	23,320,972 (GRCm38)	missense	probably benign	0.03
R1269:Nlrp4e	UTSW	7	23,353,338 (GRCm38)	missense	possibly damaging	0.95
R1400:Nlrp4e	UTSW	7	23,321,660 (GRCm38)	missense	possibly damaging	0.93
R1497:Nlrp4e	UTSW	7	23,320,372 (GRCm38)	missense	probably benign	0.00
R1518:Nlrp4e	UTSW	7	23,321,843 (GRCm38)	missense	probably benign	0.33
R1716:Nlrp4e	UTSW	7	23,321,033 (GRCm38)	missense	possibly damaging	0.56
R1727:Nlrp4e	UTSW	7	23,320,995 (GRCm38)	missense	probably benign	0.01
R1998:Nlrp4e	UTSW	7	23,321,246 (GRCm38)	missense	probably benign	0.00
R2177:Nlrp4e	UTSW	7	23,355,261 (GRCm38)	missense	probably benign	0.00
R3724:Nlrp4e	UTSW	7	23,321,377 (GRCm38)	missense	probably benign	0.28
R3767:Nlrp4e	UTSW	7	23,340,563 (GRCm38)	missense	probably damaging	1.00
R3795:Nlrp4e	UTSW	7	23,320,803 (GRCm38)	missense	probably benign	0.35
R4387:Nlrp4e	UTSW	7	23,321,227 (GRCm38)	missense	probably benign	0.01
R4387:Nlrp4e	UTSW	7	23,301,477 (GRCm38)	missense	probably benign	0.00
R4388:Nlrp4e	UTSW	7	23,321,227 (GRCm38)	missense	probably benign	0.01
R4388:Nlrp4e	UTSW	7	23,301,477 (GRCm38)	missense	probably benign	0.00
R4389:Nlrp4e	UTSW	7	23,321,227 (GRCm38)	missense	probably benign	0.01
R4403:Nlrp4e	UTSW	7	23,321,463 (GRCm38)	nonsense	probably null
R4444:Nlrp4e	UTSW	7	23,321,227 (GRCm38)	missense	probably benign	0.01
R4486:Nlrp4e	UTSW	7	23,321,227 (GRCm38)	missense	probably benign	0.01
R4547:Nlrp4e	UTSW	7	23,336,866 (GRCm38)	missense	probably benign	0.00
R4553:Nlrp4e	UTSW	7	23,320,979 (GRCm38)	missense	probably benign
R4666:Nlrp4e	UTSW	7	23,336,780 (GRCm38)	nonsense	probably null
R4721:Nlrp4e	UTSW	7	23,321,096 (GRCm38)	missense	possibly damaging	0.84
R4728:Nlrp4e	UTSW	7	23,321,564 (GRCm38)	missense	probably benign
R4758:Nlrp4e	UTSW	7	23,320,618 (GRCm38)	missense	probably benign	0.17
R4775:Nlrp4e	UTSW	7	23,343,100 (GRCm38)	missense	probably benign	0.14
R4830:Nlrp4e	UTSW	7	23,336,740 (GRCm38)	missense	probably benign	0.03
R4954:Nlrp4e	UTSW	7	23,361,893 (GRCm38)	nonsense	probably null
R5277:Nlrp4e	UTSW	7	23,321,438 (GRCm38)	missense	probably benign	0.02
R5352:Nlrp4e	UTSW	7	23,353,173 (GRCm38)	missense	probably benign	0.26
R5521:Nlrp4e	UTSW	7	23,321,765 (GRCm38)	missense	probably benign	0.00
R5528:Nlrp4e	UTSW	7	23,336,891 (GRCm38)	missense	probably benign	0.07
R5537:Nlrp4e	UTSW	7	23,320,489 (GRCm38)	missense	probably benign	0.00
R5584:Nlrp4e	UTSW	7	23,321,177 (GRCm38)	missense	probably benign
R5683:Nlrp4e	UTSW	7	23,353,272 (GRCm38)	missense	probably damaging	0.99
R6160:Nlrp4e	UTSW	7	23,321,306 (GRCm38)	missense	probably damaging	0.99
R6313:Nlrp4e	UTSW	7	23,353,172 (GRCm38)	missense	probably benign
R6427:Nlrp4e	UTSW	7	23,320,633 (GRCm38)	missense	possibly damaging	0.48
R6647:Nlrp4e	UTSW	7	23,321,315 (GRCm38)	missense	probably benign	0.00
R6929:Nlrp4e	UTSW	7	23,336,731 (GRCm38)	critical splice acceptor site	probably null
R7307:Nlrp4e	UTSW	7	23,321,528 (GRCm38)	missense	probably benign	0.07
R7792:Nlrp4e	UTSW	7	23,321,757 (GRCm38)	missense	possibly damaging	0.60
R8169:Nlrp4e	UTSW	7	23,320,506 (GRCm38)	missense	probably benign	0.06
R8445:Nlrp4e	UTSW	7	23,340,540 (GRCm38)	missense	probably benign	0.00
R8487:Nlrp4e	UTSW	7	23,321,558 (GRCm38)	missense	probably benign	0.00
R8906:Nlrp4e	UTSW	7	23,321,131 (GRCm38)	missense	possibly damaging	0.88
R9124:Nlrp4e	UTSW	7	23,320,978 (GRCm38)	missense	probably benign
R9167:Nlrp4e	UTSW	7	23,340,526 (GRCm38)	missense	probably benign	0.00
R9181:Nlrp4e	UTSW	7	23,361,845 (GRCm38)	nonsense	probably null
R9219:Nlrp4e	UTSW	7	23,321,516 (GRCm38)	missense	possibly damaging	0.50
R9229:Nlrp4e	UTSW	7	23,321,374 (GRCm38)	missense	probably benign	0.00
R9321:Nlrp4e	UTSW	7	23,321,330 (GRCm38)	missense	probably benign
R9323:Nlrp4e	UTSW	7	23,321,330 (GRCm38)	missense	probably benign
R9325:Nlrp4e	UTSW	7	23,321,330 (GRCm38)	missense	probably benign
R9379:Nlrp4e	UTSW	7	23,321,330 (GRCm38)	missense	probably benign
R9380:Nlrp4e	UTSW	7	23,321,330 (GRCm38)	missense	probably benign
R9448:Nlrp4e	UTSW	7	23,301,531 (GRCm38)	missense	probably benign
R9523:Nlrp4e	UTSW	7	23,355,211 (GRCm38)	missense	probably benign	0.00
R9593:Nlrp4e	UTSW	7	23,320,772 (GRCm38)	missense	probably benign	0.19
X0022:Nlrp4e	UTSW	7	23,343,119 (GRCm38)	missense	probably damaging	1.00
X0025:Nlrp4e	UTSW	7	23,343,178 (GRCm38)	missense	possibly damaging	0.91
X0026:Nlrp4e	UTSW	7	23,355,223 (GRCm38)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- AGAGCCATGTAGACCATCCTAGCC -3'
(R):5'- GGAAAGAGTGAATGGACTCACGTATAGC -3'

Sequencing Primer
(F):5'- TCCTAGCCAGGATGTCAAAAG -3'
(R):5'- AGCTGTGTTCTTGACCTTCAC -3'

Posted On

2014-01-05