Mutagenetix > Incidental Mutation

Incidental Mutation 'R1998:Nlrp4e'

224546

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

040008-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1998 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 23321246 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 386 (Y386S)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

probably benign
Transcript: ENSMUST00000076470
AA Change: Y386S

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

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: Y386S

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: 96.9%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	G	5: 87,970,694	N12K	probably damaging	Het
2700049A03Rik	T	A	12: 71,188,619	S1114R	possibly damaging	Het
4931409K22Rik	G	A	5: 24,545,006	R680C	probably benign	Het
Acot1	T	A	12: 84,009,753	W82R	probably damaging	Het
Adam22	T	C	5: 8,329,995	D101G	probably damaging	Het
Adcy9	T	C	16: 4,297,412	D705G	probably benign	Het
Adgrg3	T	G	8: 95,036,668	L244V	probably damaging	Het
Amh	AGCGCCTTGG	AG	10: 80,805,585		probably null	Het
Brinp1	C	T	4: 68,762,553	G580E	probably damaging	Het
Brwd1	G	A	16: 96,021,288	T1239M	probably damaging	Het
Camk1d	A	T	2: 5,362,025	Y126*	probably null	Het
Camta1	T	C	4: 151,077,880	Y1560C	probably damaging	Het
Cbfa2t2	T	A	2: 154,504,789	L139M	probably damaging	Het
Cd226	T	C	18: 89,207,219	V80A	probably damaging	Het
Dgka	C	T	10: 128,729,939	V367I	probably benign	Het
Dnajb13	A	T	7: 100,504,610	I206N	probably benign	Het
Dst	A	T	1: 34,256,347	Q5693L	probably damaging	Het
Ear6	T	A	14: 51,854,215	I73N	probably benign	Het
Egr1	A	G	18: 34,861,534	I16V	probably benign	Het
Eif2s1	T	A	12: 78,866,734	C70S	possibly damaging	Het
Epcam	T	C	17: 87,640,474	V124A	probably damaging	Het
Erbb2	T	A	11: 98,428,953	C624S	probably damaging	Het
Fam135b	T	A	15: 71,452,404	H1238L	probably damaging	Het
Fam90a1a	A	G	8: 21,963,697	D356G	probably benign	Het
Fbrsl1	G	A	5: 110,376,439	S127L	probably benign	Het
Fndc3c1	C	T	X: 106,420,705	E1276K	probably benign	Het
Gbe1	A	T	16: 70,569,041	N702I	probably damaging	Het
Gm10643	A	T	8: 84,064,424	C20*	probably null	Het
Gpr156	A	G	16: 37,997,908	N322S	possibly damaging	Het
Gsdma	T	A	11: 98,673,694	I333N	probably damaging	Het
Gstm1	A	G	3: 108,014,811	F170S	probably damaging	Het
Hgsnat	C	T	8: 25,945,252	W618*	probably null	Het
Htr5a	G	A	5: 27,850,889	V293M	possibly damaging	Het
Hyal4	A	G	6: 24,756,311	E176G	probably benign	Het
Jag1	T	C	2: 137,090,938	D546G	probably damaging	Het
Kbtbd3	A	G	9: 4,330,760	E378G	probably benign	Het
Lipo4	A	G	19: 33,514,301	V94A	probably damaging	Het
Magea10	A	T	X: 72,382,773	I205K	probably benign	Het
Manea	A	G	4: 26,327,871	L390P	probably damaging	Het
Mars	T	A	10: 127,300,478	K493*	probably null	Het
Mars	T	C	10: 127,302,871	I439V	probably benign	Het
Mboat2	A	G	12: 24,946,673	D225G	possibly damaging	Het
Mcmbp	T	A	7: 128,709,163	E350V	probably damaging	Het
Mki67	A	G	7: 135,705,770	M459T	probably benign	Het
Mlf1	G	A	3: 67,395,291	G150R	probably damaging	Het
Mtmr14	A	G	6: 113,277,924	D294G	probably null	Het
Nomo1	A	G	7: 46,033,944	D38G	possibly damaging	Het
Nudcd2	T	C	11: 40,734,017	W18R	probably damaging	Het
Olfr1140	T	C	2: 87,746,972	Y259H	probably damaging	Het
Olfr1155	G	A	2: 87,943,146	L161F	probably benign	Het
Olfr401	A	G	11: 74,121,580	Y97C	probably benign	Het
Olfr677	G	T	7: 105,056,905	V220L	probably benign	Het
Olfr742	T	A	14: 50,515,356	C51S	probably benign	Het
Pcnx2	A	T	8: 125,887,143	V523D	probably damaging	Het
Pkd1	T	C	17: 24,573,014	V1225A	probably damaging	Het
Plekhh2	T	A	17: 84,606,877	L1236Q	possibly damaging	Het
Ppp2r1b	A	G	9: 50,883,585	D570G	probably damaging	Het
Prrc2c	T	A	1: 162,704,918		probably benign	Het
Rai14	C	T	15: 10,594,981		probably null	Het
Rap1gap2	A	G	11: 74,395,833	L547P	probably benign	Het
Rims3	A	T	4: 120,891,358	M259L	probably benign	Het
Rsbn1l	G	A	5: 20,902,370	H549Y	probably damaging	Het
Sart3	A	C	5: 113,747,921		probably null	Het
Scn7a	C	A	2: 66,683,269	G1156C	probably damaging	Het
Sh3rf2	T	A	18: 42,141,083	V406D	probably damaging	Het
Slitrk6	T	C	14: 110,751,823	I151V	probably damaging	Het
Smarca2	A	T	19: 26,631,093	Q260L	probably benign	Het
Smco1	A	G	16: 32,273,840	R110G	probably damaging	Het
Spef2	T	A	15: 9,668,903		probably null	Het
Stab1	T	A	14: 31,162,153	K219*	probably null	Het
Sulf1	G	T	1: 12,858,834	E869*	probably null	Het
Susd1	T	C	4: 59,349,925	I504V	probably benign	Het
Szt2	A	G	4: 118,375,727		probably null	Het
Tas1r3	A	T	4: 155,862,920	C103S	probably damaging	Het
Thg1l	C	A	11: 45,950,203	W243L	possibly damaging	Het
Tlr4	A	T	4: 66,840,470	D500V	probably damaging	Het
Tmem72	A	G	6: 116,716,564	V5A	probably benign	Het
Tns4	T	G	11: 99,085,703	M131L	probably benign	Het
Trim66	C	T	7: 109,484,577		probably null	Het
Ttll6	T	A	11: 96,139,775		probably null	Het
Ttn	A	T	2: 76,969,703	I387N	probably damaging	Het
Ubqln5	T	A	7: 104,128,741	Q292L	probably damaging	Het
Vmn1r74	G	T	7: 11,847,375	V201F	probably damaging	Het
Vmn2r28	G	T	7: 5,488,314	D311E	possibly damaging	Het
Vtn	T	A	11: 78,499,716	V67E	probably damaging	Het
Xirp2	T	A	2: 67,509,049	F545I	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
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
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'- AATGAGCAGCTGTTCTCTGTATG -3'
(R):5'- GAAAGATGGCAGCACAGACCTC -3'

Sequencing Primer
(F):5'- AGCAGCTGTTCTCTGTATGTCAAGTC -3'
(R):5'- CAGACCTCCTGGATAGATGGGTG -3'

Posted On

2014-08-25