Mutagenetix > Incidental Mutation

Incidental Mutation 'R9181:Nlrp4e'

697026

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9181 (G1)

Quality Score

171.009

Status

Validated

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 23361845 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 954 (R954*)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

probably null
Transcript: ENSMUST00000076470
AA Change: R954*

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: R954*

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: 99.8%
20x: 99.2%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	G	T	5: 104,974,096	D138E	probably benign	Het
Acvr2a	T	A	2: 48,870,295	I21K	probably damaging	Het
Adam30	C	G	3: 98,162,878	P676A	probably benign	Het
AF529169	A	G	9: 89,603,341	M1T	probably null	Het
Ankrd28	A	C	14: 31,748,670	H145Q	probably damaging	Het
Ap3m2	A	G	8: 22,799,758	Y110H	probably damaging	Het
Apoc4	A	G	7: 19,678,740	S27P	possibly damaging	Het
Bbs1	A	C	19: 4,891,042	L548R	possibly damaging	Het
Cfap99	A	T	5: 34,314,258	D346V	probably damaging	Het
Ckmt1	T	A	2: 121,359,389		probably benign	Het
Col13a1	T	C	10: 61,867,833	K436E	possibly damaging	Het
Col15a1	G	C	4: 47,288,200		probably benign	Het
Dbf4	A	G	5: 8,412,206	V105A	possibly damaging	Het
Disp2	T	A	2: 118,786,912	V129E	probably benign	Het
Dnah7b	T	C	1: 46,142,034	V1027A	probably damaging	Het
Dst	T	A	1: 34,192,737	I3137N	probably benign	Het
F5	A	G	1: 164,192,326	D790G	probably benign	Het
Fan1	A	G	7: 64,366,652	S575P	probably damaging	Het
Gemin5	C	T	11: 58,130,209	A1051T	probably benign	Het
Gm10424	A	T	5: 95,270,555	V194D	probably benign	Het
Gsta4	A	G	9: 78,198,315	Y9C	probably damaging	Het
H2-M3	C	A	17: 37,272,281	A211E	probably damaging	Het
Ifna1	A	T	4: 88,850,216	M44L	probably benign	Het
Ildr2	A	T	1: 166,294,714	D242V	probably damaging	Het
Kif27	G	T	13: 58,344,729	Q199K	probably damaging	Het
Lmf1	T	A	17: 25,585,744	L132H	probably damaging	Het
Mbtd1	A	G	11: 93,912,415	N173S	probably benign	Het
Mgat4c	A	T	10: 102,389,262	N446Y	probably benign	Het
Mocs1	T	A	17: 49,449,773	M261K	probably damaging	Het
Nlrp10	A	T	7: 108,924,901	F457L	probably damaging	Het
Olfr1191-ps1	T	C	2: 88,643,004	M79T	probably benign	Het
Pigu	T	C	2: 155,299,189	I261M	probably damaging	Het
Pkd1l3	T	A	8: 109,648,686	I1576N	probably damaging	Het
Plekhg6	A	C	6: 125,378,891		probably benign	Het
Pmpca	T	C	2: 26,393,353	L388P	probably damaging	Het
Polg	A	T	7: 79,454,673	I818N	probably damaging	Het
Radil	A	G	5: 142,494,967	Y578H	probably damaging	Het
Retnlb	A	G	16: 48,818,721	D95G	probably damaging	Het
Rrnad1	A	G	3: 87,928,085		probably benign	Het
Rufy2	A	T	10: 63,000,387	Y365F	possibly damaging	Het
Ssc5d	A	G	7: 4,942,815	T949A	possibly damaging	Het
Svil	C	A	18: 5,090,833	R1312S	possibly damaging	Het
Syne1	T	C	10: 5,113,994	T7142A	probably damaging	Het
Tert	A	T	13: 73,637,175		probably benign	Het
Tpbgl	A	T	7: 99,625,569	D360E	probably damaging	Het
Traj13	G	A	14: 54,205,791	V17I	unknown	Het
Trim13	G	A	14: 61,604,597	R21Q	possibly damaging	Het
Wdr36	T	C	18: 32,848,329	V357A	possibly damaging	Het
Xdh	G	A	17: 73,925,011	R235C	probably damaging	Het
Zfp971	T	C	2: 178,032,943	F112L	probably damaging	Het
Znfx1	C	T	2: 167,037,818	C1546Y	probably damaging	Het
Znfx1	T	A	2: 167,038,217	E1413V	probably benign	Het
Zscan4c	A	G	7: 11,009,814	M447V	probably benign	Het
Zyx	T	A	6: 42,357,884	D541E	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
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
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'- TTACCTGAACTTGGCCTTGG -3'
(R):5'- CCTTTGGAGGTAGTTCGACG -3'

Sequencing Primer
(F):5'- GAGAAATGGCTCCTCTGTTAAGC -3'
(R):5'- CGTAGTTTGAGGTCAGAATACAGCC -3'

Posted On

2022-02-07