Mutagenetix > Incidental Mutation

Incidental Mutation 'R5537:Nlrp4e'

434873

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

043095-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5537 (G1)

Quality Score

149

Status

Not validated

Chromosome

Chromosomal Location

23000617-23061702 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23019914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 134 (F134L)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

probably benign
Transcript: ENSMUST00000076470
AA Change: F134L

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

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: F134L

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: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 9,005,485 (GRCm39)	I1123F	probably damaging	Het
Acsl3	C	T	1: 78,684,073 (GRCm39)	R702C	probably damaging	Het
Ank1	A	G	8: 23,604,892 (GRCm39)	E1031G	probably damaging	Het
Ankle2	T	C	5: 110,397,361 (GRCm39)	S536P	probably damaging	Het
Arfgef2	G	T	2: 166,698,513 (GRCm39)		probably null	Het
Bahd1	G	T	2: 118,746,461 (GRCm39)	D27Y	probably damaging	Het
Brinp2	C	T	1: 158,082,583 (GRCm39)	V246I	probably damaging	Het
Ccdc187	C	A	2: 26,166,237 (GRCm39)	A731S	probably benign	Het
Cdc37l1	T	A	19: 28,972,518 (GRCm39)	N70K	probably damaging	Het
Cdk5r1	A	G	11: 80,368,825 (GRCm39)	Y164C	probably damaging	Het
Clrn3	A	T	7: 135,115,791 (GRCm39)	H186Q	probably benign	Het
Col12a1	G	A	9: 79,606,872 (GRCm39)	T517I	probably damaging	Het
Crhr1	T	A	11: 104,054,682 (GRCm39)	N98K	possibly damaging	Het
Dst	C	T	1: 34,228,959 (GRCm39)	S2362L	probably benign	Het
Eapp	G	A	12: 54,738,844 (GRCm39)	T98I	probably benign	Het
Iqsec3	T	C	6: 121,389,603 (GRCm39)		probably benign	Het
Kctd12	A	G	14: 103,219,713 (GRCm39)	V55A	probably benign	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Lgr5	T	C	10: 115,292,594 (GRCm39)	D432G	probably benign	Het
Mrgprx1	T	A	7: 47,670,898 (GRCm39)	H283L	probably benign	Het
Or1e34	T	C	11: 73,778,523 (GRCm39)	K225R	probably benign	Het
Or4f14b	A	T	2: 111,775,393 (GRCm39)	M136K	probably damaging	Het
Or5m5	T	A	2: 85,814,570 (GRCm39)	Y129N	possibly damaging	Het
Or8b43	T	A	9: 38,360,538 (GRCm39)	Y123*	probably null	Het
Pfkp	C	A	13: 6,669,278 (GRCm39)	W235L	probably damaging	Het
Prom1	C	T	5: 44,158,118 (GRCm39)		probably null	Het
Psma5-ps	A	G	10: 85,149,913 (GRCm39)		noncoding transcript	Het
Rab14	A	T	2: 35,082,649 (GRCm39)	F12L	possibly damaging	Het
Rnf40	T	A	7: 127,195,261 (GRCm39)	I429N	probably benign	Het
S100pbp	G	A	4: 129,075,981 (GRCm39)	P115S	probably benign	Het
Scarf1	G	A	11: 75,416,357 (GRCm39)	A600T	probably damaging	Het
Slc6a5	T	C	7: 49,609,059 (GRCm39)	F755L	probably benign	Het
Slc7a2	A	T	8: 41,367,023 (GRCm39)	I510F	probably benign	Het
Spag16	T	C	1: 69,866,175 (GRCm39)	S5P	probably benign	Het
Tex15	A	G	8: 34,061,641 (GRCm39)	Y631C	probably damaging	Het
Tmem182	A	T	1: 40,894,069 (GRCm39)	I195F	probably benign	Het
Tox	A	G	4: 6,697,510 (GRCm39)	L431P	probably damaging	Het
Tprn	G	A	2: 25,153,369 (GRCm39)	A224T	probably benign	Het
Tsg101	T	C	7: 46,540,876 (GRCm39)	K294E	probably benign	Het
Tubb2a	C	A	13: 34,259,434 (GRCm39)	V119L	probably benign	Het
Vps37d	C	T	5: 135,103,256 (GRCm39)	E129K	possibly damaging	Het
Zfp974	TAATCTGTCTCCAAATCTG	TAATCTG	7: 27,611,671 (GRCm39)		probably benign	Het
Zpld1	A	G	16: 55,054,003 (GRCm39)	V263A	possibly damaging	Het

Other mutations in Nlrp4e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Nlrp4e	APN	7	23,042,565 (GRCm39)	missense	probably damaging	1.00
IGL00833:Nlrp4e	APN	7	23,039,896 (GRCm39)	missense	probably benign	0.00
IGL01017:Nlrp4e	APN	7	23,021,092 (GRCm39)	missense	possibly damaging	0.93
IGL01025:Nlrp4e	APN	7	23,052,586 (GRCm39)	splice site	probably benign
IGL01815:Nlrp4e	APN	7	23,020,863 (GRCm39)	missense	probably benign	0.02
IGL01924:Nlrp4e	APN	7	23,020,255 (GRCm39)	nonsense	probably null
IGL02245:Nlrp4e	APN	7	23,020,300 (GRCm39)	missense	probably damaging	1.00
IGL02745:Nlrp4e	APN	7	23,020,716 (GRCm39)	missense	probably damaging	1.00
IGL02746:Nlrp4e	APN	7	23,021,264 (GRCm39)	missense	probably benign	0.00
IGL02987:Nlrp4e	APN	7	23,000,858 (GRCm39)	missense	probably damaging	1.00
IGL02997:Nlrp4e	APN	7	23,000,799 (GRCm39)	missense	probably benign	0.04
IGL03193:Nlrp4e	APN	7	23,020,251 (GRCm39)	missense	probably damaging	1.00
IGL03304:Nlrp4e	APN	7	23,052,768 (GRCm39)	critical splice donor site	probably null
IGL03352:Nlrp4e	APN	7	23,020,251 (GRCm39)	missense	probably damaging	1.00
R0389:Nlrp4e	UTSW	7	23,054,628 (GRCm39)	missense	probably damaging	0.98
R1028:Nlrp4e	UTSW	7	23,021,169 (GRCm39)	missense	probably damaging	1.00
R1163:Nlrp4e	UTSW	7	23,020,397 (GRCm39)	missense	probably benign	0.03
R1269:Nlrp4e	UTSW	7	23,052,763 (GRCm39)	missense	possibly damaging	0.95
R1400:Nlrp4e	UTSW	7	23,021,085 (GRCm39)	missense	possibly damaging	0.93
R1497:Nlrp4e	UTSW	7	23,019,797 (GRCm39)	missense	probably benign	0.00
R1518:Nlrp4e	UTSW	7	23,021,268 (GRCm39)	missense	probably benign	0.33
R1716:Nlrp4e	UTSW	7	23,020,458 (GRCm39)	missense	possibly damaging	0.56
R1727:Nlrp4e	UTSW	7	23,020,420 (GRCm39)	missense	probably benign	0.01
R1998:Nlrp4e	UTSW	7	23,020,671 (GRCm39)	missense	probably benign	0.00
R2177:Nlrp4e	UTSW	7	23,054,686 (GRCm39)	missense	probably benign	0.00
R3724:Nlrp4e	UTSW	7	23,020,802 (GRCm39)	missense	probably benign	0.28
R3767:Nlrp4e	UTSW	7	23,039,988 (GRCm39)	missense	probably damaging	1.00
R3795:Nlrp4e	UTSW	7	23,020,228 (GRCm39)	missense	probably benign	0.35
R4387:Nlrp4e	UTSW	7	23,020,652 (GRCm39)	missense	probably benign	0.01
R4387:Nlrp4e	UTSW	7	23,000,902 (GRCm39)	missense	probably benign	0.00
R4388:Nlrp4e	UTSW	7	23,020,652 (GRCm39)	missense	probably benign	0.01
R4388:Nlrp4e	UTSW	7	23,000,902 (GRCm39)	missense	probably benign	0.00
R4389:Nlrp4e	UTSW	7	23,020,652 (GRCm39)	missense	probably benign	0.01
R4403:Nlrp4e	UTSW	7	23,020,888 (GRCm39)	nonsense	probably null
R4444:Nlrp4e	UTSW	7	23,020,652 (GRCm39)	missense	probably benign	0.01
R4486:Nlrp4e	UTSW	7	23,020,652 (GRCm39)	missense	probably benign	0.01
R4547:Nlrp4e	UTSW	7	23,036,291 (GRCm39)	missense	probably benign	0.00
R4553:Nlrp4e	UTSW	7	23,020,404 (GRCm39)	missense	probably benign
R4666:Nlrp4e	UTSW	7	23,036,205 (GRCm39)	nonsense	probably null
R4721:Nlrp4e	UTSW	7	23,020,521 (GRCm39)	missense	possibly damaging	0.84
R4728:Nlrp4e	UTSW	7	23,020,989 (GRCm39)	missense	probably benign
R4758:Nlrp4e	UTSW	7	23,020,043 (GRCm39)	missense	probably benign	0.17
R4775:Nlrp4e	UTSW	7	23,042,525 (GRCm39)	missense	probably benign	0.14
R4830:Nlrp4e	UTSW	7	23,036,165 (GRCm39)	missense	probably benign	0.03
R4954:Nlrp4e	UTSW	7	23,061,318 (GRCm39)	nonsense	probably null
R5277:Nlrp4e	UTSW	7	23,020,863 (GRCm39)	missense	probably benign	0.02
R5352:Nlrp4e	UTSW	7	23,052,598 (GRCm39)	missense	probably benign	0.26
R5521:Nlrp4e	UTSW	7	23,021,190 (GRCm39)	missense	probably benign	0.00
R5528:Nlrp4e	UTSW	7	23,036,316 (GRCm39)	missense	probably benign	0.07
R5584:Nlrp4e	UTSW	7	23,020,602 (GRCm39)	missense	probably benign
R5683:Nlrp4e	UTSW	7	23,052,697 (GRCm39)	missense	probably damaging	0.99
R6160:Nlrp4e	UTSW	7	23,020,731 (GRCm39)	missense	probably damaging	0.99
R6313:Nlrp4e	UTSW	7	23,052,597 (GRCm39)	missense	probably benign
R6427:Nlrp4e	UTSW	7	23,020,058 (GRCm39)	missense	possibly damaging	0.48
R6647:Nlrp4e	UTSW	7	23,020,740 (GRCm39)	missense	probably benign	0.00
R6929:Nlrp4e	UTSW	7	23,036,156 (GRCm39)	critical splice acceptor site	probably null
R7307:Nlrp4e	UTSW	7	23,020,953 (GRCm39)	missense	probably benign	0.07
R7792:Nlrp4e	UTSW	7	23,021,182 (GRCm39)	missense	possibly damaging	0.60
R8169:Nlrp4e	UTSW	7	23,019,931 (GRCm39)	missense	probably benign	0.06
R8445:Nlrp4e	UTSW	7	23,039,965 (GRCm39)	missense	probably benign	0.00
R8487:Nlrp4e	UTSW	7	23,020,983 (GRCm39)	missense	probably benign	0.00
R8906:Nlrp4e	UTSW	7	23,020,556 (GRCm39)	missense	possibly damaging	0.88
R9124:Nlrp4e	UTSW	7	23,020,403 (GRCm39)	missense	probably benign
R9167:Nlrp4e	UTSW	7	23,039,951 (GRCm39)	missense	probably benign	0.00
R9181:Nlrp4e	UTSW	7	23,061,270 (GRCm39)	nonsense	probably null
R9219:Nlrp4e	UTSW	7	23,020,941 (GRCm39)	missense	possibly damaging	0.50
R9229:Nlrp4e	UTSW	7	23,020,799 (GRCm39)	missense	probably benign	0.00
R9321:Nlrp4e	UTSW	7	23,020,755 (GRCm39)	missense	probably benign
R9323:Nlrp4e	UTSW	7	23,020,755 (GRCm39)	missense	probably benign
R9325:Nlrp4e	UTSW	7	23,020,755 (GRCm39)	missense	probably benign
R9379:Nlrp4e	UTSW	7	23,020,755 (GRCm39)	missense	probably benign
R9380:Nlrp4e	UTSW	7	23,020,755 (GRCm39)	missense	probably benign
R9448:Nlrp4e	UTSW	7	23,000,956 (GRCm39)	missense	probably benign
R9523:Nlrp4e	UTSW	7	23,054,636 (GRCm39)	missense	probably benign	0.00
R9593:Nlrp4e	UTSW	7	23,020,197 (GRCm39)	missense	probably benign	0.19
X0022:Nlrp4e	UTSW	7	23,042,544 (GRCm39)	missense	probably damaging	1.00
X0025:Nlrp4e	UTSW	7	23,042,603 (GRCm39)	missense	possibly damaging	0.91
X0026:Nlrp4e	UTSW	7	23,054,648 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- AAGCTCTCTGTGGGTGAATG -3'
(R):5'- ATCAATTCTGCCAGGCTTGCTC -3'

Sequencing Primer
(F):5'- CTCTGTGGGTGAATGTTTAACTTAAC -3'
(R):5'- CTTCTTCACATCTTGACAGCAGAAG -3'

Posted On

2016-10-24