Mutagenetix > Incidental Mutations

Incidental Mutation 'R9380:Nlrp4e'

709933

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4e

Ensembl Gene

ENSMUSG00000045693

Gene Name

NLR family, pyrin domain containing 4E

Synonyms

4930406H16Rik, Nalp4e, Nalp-epsilon

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9380 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 23321330 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 414 (A414G)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

probably benign
Transcript: ENSMUST00000076470
AA Change: A414G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: A414G

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: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	C	6: 48,933,130	I667T	probably damaging	Het
Acsl3	T	G	1: 78,681,885	C85G	possibly damaging	Het
Alox12e	A	T	11: 70,316,168		probably null	Het
Asb10	A	C	5: 24,534,105		probably null	Het
BC027072	A	T	17: 71,749,356	S1109T	possibly damaging	Het
Bcl2a1d	G	A	9: 88,731,882		probably benign	Het
Camsap3	A	T	8: 3,603,999	K556N	probably benign	Het
Cd300lf	T	A	11: 115,124,327	T146S	probably benign	Het
Chuk	C	A	19: 44,074,519	A744S	unknown	Het
Clint1	A	T	11: 45,852,161	M4L	probably benign	Het
Cnot4	T	C	6: 35,052,930	I344M	possibly damaging	Het
Cpne1	T	C	2: 156,078,801	D135G	probably benign	Het
Csgalnact2	C	A	6: 118,128,879	L159F	probably damaging	Het
Dnaic2	T	C	11: 114,745,163	F325L	probably benign	Het
Dnal4	G	A	15: 79,763,589	S25L	possibly damaging	Het
Ep300	T	C	15: 81,616,044	M515T	unknown	Het
Ewsr1	T	C	11: 5,093,730	Y18C	possibly damaging	Het
Fam25c	T	C	14: 34,352,000	T72A	possibly damaging	Het
Flii	T	C	11: 60,715,471	Y1131C	probably benign	Het
Foxj1	C	T	11: 116,331,721	A419T	possibly damaging	Het
Fsd1l	A	G	4: 53,693,991	T323A	possibly damaging	Het
Furin	T	C	7: 80,391,758	I551V	probably benign	Het
Gbp11	A	G	5: 105,327,336	V382A	probably benign	Het
Gfod1	A	C	13: 43,200,844	D218E	probably damaging	Het
Glp2r	A	T	11: 67,746,746	I153N	possibly damaging	Het
Gm11214	G	T	4: 63,662,613	P100T	possibly damaging	Het
Gm34653	G	A	2: 34,839,017	C276Y	probably damaging	Het
Gne	A	T	4: 44,066,807	F69I	probably benign	Het
Hsd3b2	T	C	3: 98,712,137	K164R	probably damaging	Het
Hspa1b	T	C	17: 34,958,194	R272G	probably damaging	Het
Hydin	C	A	8: 110,563,872	T3321N	probably benign	Het
Impg1	A	T	9: 80,381,795	S327T	probably benign	Het
Izumo2	T	C	7: 44,715,388	V159A	probably benign	Het
Kat6b	T	C	14: 21,628,858	S430P	probably damaging	Het
Kcnj9	T	A	1: 172,325,880	T226S	probably benign	Het
Kl	T	A	5: 150,988,877	M697K	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lrrk1	G	A	7: 66,278,583	P1266S	probably damaging	Het
Med13	A	T	11: 86,286,772	N1499K	probably benign	Het
Mid1	C	G	X: 169,985,007	P384A	probably benign	Het
Mybbp1a	A	G	11: 72,442,842	I182V	probably benign	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nin	A	G	12: 70,028,031	L1859P		Het
Olfr1200	A	T	2: 88,768,186	I43N	probably damaging	Het
Olfr1380	A	G	11: 49,564,077	D52G	possibly damaging	Het
Olfr728	C	A	14: 50,140,313	G109W	probably damaging	Het
Olfr914	A	G	9: 38,607,119	Y218C	probably damaging	Het
Osbpl8	T	A	10: 111,273,119	S421T	probably damaging	Het
Paqr7	A	G	4: 134,507,039	N69S	probably damaging	Het
Pdgfrb	G	A	18: 61,064,848	G231D	probably damaging	Het
Pip5k1b	A	G	19: 24,379,053	Y174H	probably damaging	Het
Pkd1	T	A	17: 24,550,288	L9Q	unknown	Het
Psmg4	A	T	13: 34,166,097	T71S	probably benign	Het
Ptpn23	A	G	9: 110,392,513	I173T	possibly damaging	Het
Qser1	G	A	2: 104,789,346	Q284*	probably null	Het
Rcc2	G	T	4: 140,702,391	A79S	probably benign	Het
Rgl3	G	T	9: 21,976,827	Q464K	probably damaging	Het
Rhov	C	A	2: 119,270,123	R211L	probably benign	Het
Rp1l1	A	G	14: 64,029,026	D687G	probably benign	Het
Selenbp2	A	G	3: 94,702,347	I291V	probably benign	Het
Sh3glb2	A	T	2: 30,348,613	V189E	probably damaging	Het
Slc46a2	A	G	4: 59,913,867	I352T	probably damaging	Het
Sucla2	T	A	14: 73,590,872	N306K	probably benign	Het
Suco	A	G	1: 161,818,505	V1209A	possibly damaging	Het
Tacc2	T	A	7: 130,625,041	L1152Q	possibly damaging	Het
Tanc1	A	T	2: 59,835,452	K1185M	probably damaging	Het
Tas2r114	A	G	6: 131,689,418	F216L	probably benign	Het
Tead1	A	T	7: 112,841,898	H78L	possibly damaging	Het
Tex12	T	C	9: 50,558,286	I64V	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Trank1	A	G	9: 111,392,670	E2825G	probably benign	Het
Trappc13	T	A	13: 104,144,199	Y399F	probably damaging	Het
Trim21	T	C	7: 102,563,785	D102G	probably damaging	Het
Trim27	G	T	13: 21,180,510	V6L	probably benign	Het
Trim55	A	G	3: 19,674,395	T457A	probably benign	Het
Trrap	A	G	5: 144,833,171	E2716G	probably benign	Het
Usp10	T	G	8: 119,956,204	L712R	probably damaging	Het
Vldlr	T	A	19: 27,238,792	C338S	possibly damaging	Het
Zfp946	A	G	17: 22,454,699	I145V	probably benign	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
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
R9448:Nlrp4e	UTSW	7	23301531	missense	probably benign
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

Posted On

2022-04-18